Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 5727 |
| ensemblid | ENSG00000185920.19 |
| hgncid | 9585 |
| symbol | PTCH1 |
| name | patched 1 |
| refseq_nuc | NM_001083603.3 |
| refseq_prot | NP_001077072.1 |
| ensembl_nuc | ENST00000437951.6 |
| ensembl_prot | ENSP00000389744.2 |
| mane_status | MANE Plus Clinical |
| chr | chr9 |
| start | 95442980 |
| end | 95516971 |
| strand | - |
| ver | v1.2 |
| region | chr9:95442980-95516971 |
| region5000 | chr9:95437980-95521971 |
| regionname0 | PTCH1_chr9_95442980_95516971 |
| regionname5000 | PTCH1_chr9_95437980_95521971 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 1446 | 146 | 50 | 29 | 45 | 6 | 15 | 37 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0002 | 0/1 | 1446 | 86 | 15 | 13 | 48 | 4 | 5 | 35 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0003 | 0/0 | 1446 | 25 | 8 | 0 | 15 | 0 | 2 | 10 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0004 | 0/0 | 1446 | 6 | 0 | 0 | 5 | 0 | 1 | 3 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0005 | 0/0 | 1446 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0006 | 0/0 | 1446 | 2 | 0 | 0 | 2 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0007 | 0/0 | 1446 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0008 | 0/0 | 1446 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0009 | 0/0 | 1446 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0010 | 0/0 | 1446 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0011 | 0/0 | 1446 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0012 | 0/0 | 1446 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0013 | 0/0 | 1446 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0014 | 0/0 | 1446 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| a0015 | 0/0 | 1446 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | MELLN others(1441): Show |
chr9 | 95437980 | 95521971 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 1/0 | 4338 | 63 | 25 | 19 | 9 | 2 | 7 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0003 | 0/0 | 4338 | 44 | 18 | 5 | 17 | 2 | 2 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0004 | 0/0 | 4338 | 22 | 1 | 2 | 15 | 1 | 3 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0007 | 0/0 | 4338 | 4 | 0 | 0 | 3 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0008 | 0/0 | 4338 | 4 | 1 | 2 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0013 | 0/0 | 4338 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0014 | 0/0 | 4338 | 2 | 1 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0021 | 0/0 | 4338 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0023 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0029 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0035 | 0/0 | 4338 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0001c0036 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0001 | 0/1 | 4338 | 76 | 12 | 13 | 43 | 3 | 4 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0012 | 0/0 | 4338 | 3 | 0 | 0 | 2 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0017 | 0/0 | 4338 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0018 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0019 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0028 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0030 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0033 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0002c0034 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0003c0005 | 0/0 | 4338 | 19 | 8 | 0 | 9 | 0 | 2 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0003c0010 | 0/0 | 4338 | 3 | 0 | 0 | 3 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0003c0011 | 0/0 | 4338 | 3 | 0 | 0 | 3 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0004c0006 | 0/0 | 4338 | 5 | 0 | 0 | 4 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0004c0020 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0005c0009 | 0/0 | 4338 | 4 | 4 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0006c0016 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0006c0022 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0007c0015 | 0/0 | 4338 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0008c0024 | 0/0 | 4338 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0009c0037 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0010c0031 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0011c0038 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0012c0025 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0013c0026 | 0/0 | 4338 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0014c0027 | 0/0 | 4338 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 | ||
| a0015c0032 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | ATGGA others(4333): Show |
chr9 | 95437980 | 95521971 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001 | 1/0 | 7905 | 18 | 2 | 5 | 5 | 1 | 4 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0002 | 0/0 | 7905 | 18 | 5 | 5 | 4 | 1 | 3 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0003 | 0/0 | 7909 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7904): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0004 | 0/0 | 7906 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0006 | 0/0 | 7905 | 5 | 4 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0007 | 0/0 | 7906 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0008 | 0/0 | 7906 | 7 | 6 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0011 | 0/0 | 7906 | 4 | 2 | 2 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0014 | 0/0 | 7902 | 2 | 0 | 2 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7897): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0019 | 0/0 | 7906 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0024 | 0/0 | 7905 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0029 | 0/0 | 7905 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0002t0035 | 0/0 | 7905 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0001 | 0/0 | 7905 | 6 | 2 | 1 | 3 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0002 | 0/0 | 7905 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0003 | 0/0 | 7909 | 19 | 1 | 4 | 11 | 1 | 2 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7904): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0004 | 0/0 | 7906 | 5 | 4 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0006 | 0/0 | 7905 | 3 | 3 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0009 | 0/0 | 7906 | 4 | 4 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0014 | 0/0 | 7902 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7897): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0021 | 0/0 | 7906 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0026 | 0/0 | 7908 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7903): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0027 | 0/0 | 7909 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7904): Show |
chr9 | 95437980 | 95521971 |
| a0001c0003t0033 | 0/0 | 7905 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0004t0001 | 0/0 | 7905 | 15 | 1 | 1 | 9 | 1 | 3 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0004t0002 | 0/0 | 7905 | 3 | 0 | 1 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0004t0003 | 0/0 | 7909 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7904): Show |
chr9 | 95437980 | 95521971 |
| a0001c0004t0018 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0004t0022 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0004t0036 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0007t0012 | 0/0 | 7891 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7886): Show |
chr9 | 95437980 | 95521971 |
| a0001c0007t0013 | 0/0 | 7905 | 3 | 0 | 0 | 3 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0008t0001 | 0/0 | 7905 | 4 | 1 | 2 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0013t0007 | 0/0 | 7906 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0014t0002 | 0/0 | 7905 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0014t0034 | 0/0 | 7906 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0001c0021t0001 | 0/0 | 7905 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0023t0002 | 0/0 | 7905 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0029t0028 | 0/0 | 7909 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7904): Show |
chr9 | 95437980 | 95521971 |
| a0001c0035t0001 | 0/0 | 7905 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0001c0036t0012 | 0/0 | 7891 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7886): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0001 | 0/1 | 7905 | 50 | 3 | 9 | 34 | 1 | 2 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0002 | 0/0 | 7905 | 3 | 0 | 2 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0003 | 0/0 | 7909 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7904): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0004 | 0/0 | 7906 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0005 | 0/0 | 7906 | 7 | 7 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0007 | 0/0 | 7906 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0015 | 0/0 | 7905 | 3 | 0 | 1 | 0 | 2 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0016 | 0/0 | 7904 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7899): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0017 | 0/0 | 7905 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0023 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0025 | 0/0 | 7909 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7904): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0030 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0001t0031 | 0/0 | 7904 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7899): Show |
chr9 | 95437980 | 95521971 |
| a0002c0012t0001 | 0/0 | 7905 | 3 | 0 | 0 | 2 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0017t0003 | 0/0 | 7909 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7904): Show |
chr9 | 95437980 | 95521971 |
| a0002c0018t0005 | 0/0 | 7906 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0002c0019t0001 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0028t0001 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0030t0001 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0033t0001 | 0/0 | 7905 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0002c0034t0032 | 0/0 | 7906 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0003c0005t0001 | 0/0 | 7905 | 7 | 0 | 0 | 5 | 0 | 2 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0003c0005t0002 | 0/0 | 7905 | 5 | 5 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0003c0005t0004 | 0/0 | 7906 | 5 | 2 | 0 | 3 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0003c0005t0009 | 0/0 | 7906 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0003c0005t0018 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0003c0010t0010 | 0/0 | 7906 | 3 | 0 | 0 | 3 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0003c0011t0002 | 0/0 | 7905 | 3 | 0 | 0 | 3 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0004c0006t0001 | 0/0 | 7905 | 4 | 0 | 0 | 4 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0004c0006t0004 | 0/0 | 7906 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0004c0020t0010 | 0/0 | 7906 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0005c0009t0007 | 0/0 | 7906 | 4 | 4 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0006c0016t0001 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0006c0022t0004 | 0/0 | 7906 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0007c0015t0001 | 0/0 | 7905 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0008c0024t0002 | 0/0 | 7905 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0009c0037t0012 | 0/0 | 7891 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7886): Show |
chr9 | 95437980 | 95521971 |
| a0010c0031t0004 | 0/0 | 7906 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0011c0038t0020 | 0/0 | 7906 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0012c0025t0020 | 0/0 | 7906 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7901): Show |
chr9 | 95437980 | 95521971 |
| a0013c0026t0001 | 0/0 | 7905 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0014c0027t0001 | 0/0 | 7905 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| a0015c0032t0002 | 0/0 | 7905 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | CTGTT others(7900): Show |
chr9 | 95437980 | 95521971 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0091 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0117 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0002g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0003g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0004g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0004g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0006g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0006g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0006g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0006g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0006g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0007g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0008g0012 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0008g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0008g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0008g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0008g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0008g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0011g0010 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0011g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0011g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0014g0011 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0019g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0019g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0024g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0029g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0002t0035g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0002g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0003g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0004g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0004g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0004g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0004g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0004g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0006g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0006g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0006g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0009g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0009g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0009g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0009g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0014g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0021g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0021g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0026g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0027g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0003t0033g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0002g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0002g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0002g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0003g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0018g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0022g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0004t0036g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0007t0012g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0007t0013g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0007t0013g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0007t0013g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0008t0001g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0008t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0008t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0008t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0013t0007g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0013t0007g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0014t0002g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0014t0034g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0021t0001g0218 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0023t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0029t0028g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0035t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0001c0036t0012g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0001 | 0/0 | 6 | 0 | 0 | 5 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0002 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0060 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0002g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0002g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0003g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0003g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0004g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0004g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0005g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0005g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0005g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0005g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0005g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0005g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0007g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0015g0003 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0015g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0016g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0016g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0017g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0023g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0025g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0030g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0001t0031g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0012t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0012t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0012t0001g0249 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0017t0003g0155 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0018t0005g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0019t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0028t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0030t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0033t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0002c0034t0032g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0001g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0002g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0002g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0002g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0002g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0002g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0004g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0004g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0004g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0004g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0004g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0009g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0005t0018g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0010t0010g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0010t0010g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0011t0002g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0011t0002g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0003c0011t0002g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0004c0006t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0004c0006t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0004c0006t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0004c0006t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0004c0006t0004g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0004c0020t0010g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0005c0009t0007g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0005c0009t0007g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0005c0009t0007g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0006c0016t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0006c0022t0004g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0007c0015t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0008c0024t0002g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0009c0037t0012g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0010c0031t0004g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0011c0038t0020g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0012c0025t0020g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0013c0026t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0014c0027t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| a0015c0032t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0002 | c0001 | t0001 | g0106 | EUR | GBR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00140 | hp2 | a0001 | c0004 | t0001 | g0247 | EUR | GBR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00408 | hp1 | a0002 | c0001 | t0001 | g0032 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00408 | hp2 | a0001 | c0002 | t0001 | g0245 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00423 | hp1 | a0002 | c0001 | t0001 | g0116 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00423 | hp2 | a0001 | c0007 | t0013 | g0020 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00558 | hp1 | a0002 | c0028 | t0001 | g0085 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00558 | hp2 | a0006 | c0016 | t0001 | g0071 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00597 | hp1 | a0001 | c0003 | t0003 | g0148 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00597 | hp2 | a0002 | c0001 | t0001 | g0002 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00609 | hp1 | a0003 | c0010 | t0010 | g0114 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00609 | hp2 | a0002 | c0012 | t0001 | g0224 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00639 | hp1 | a0001 | c0002 | t0001 | g0004 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00639 | hp2 | a0002 | c0001 | t0031 | g0121 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00673 | hp1 | a0002 | c0001 | t0001 | g0001 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00673 | hp2 | a0004 | c0020 | t0010 | g0209 | EAS | CHS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00738 | hp1 | a0002 | c0001 | t0001 | g0129 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG00738 | hp2 | a0001 | c0003 | t0001 | g0137 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01069 | hp1 | a0001 | c0002 | t0014 | g0011 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01069 | hp2 | a0007 | c0015 | t0001 | g0131 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01071 | hp1 | a0001 | c0002 | t0002 | g0112 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01071 | hp2 | a0001 | c0002 | t0014 | g0011 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01074 | hp1 | a0001 | c0002 | t0002 | g0064 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01074 | hp2 | a0001 | c0002 | t0003 | g0226 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01081 | hp1 | a0001 | c0002 | t0006 | g0185 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01081 | hp2 | a0001 | c0014 | t0034 | g0068 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01099 | hp1 | a0001 | c0003 | t0003 | g0157 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01099 | hp2 | a0002 | c0001 | t0001 | g0006 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01106 | hp1 | a0001 | c0002 | t0001 | g0132 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01106 | hp2 | a0002 | c0001 | t0002 | g0045 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01109 | hp1 | a0001 | c0002 | t0001 | g0004 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01109 | hp2 | a0001 | c0002 | t0011 | g0165 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01167 | hp1 | a0001 | c0003 | t0003 | g0160 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01167 | hp2 | a0001 | c0002 | t0001 | g0062 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01175 | hp1 | a0001 | c0004 | t0002 | g0231 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01175 | hp2 | a0002 | c0001 | t0001 | g0094 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01192 | hp1 | a0002 | c0001 | t0001 | g0006 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01192 | hp2 | a0001 | c0003 | t0003 | g0158 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01243 | hp1 | a0001 | c0002 | t0011 | g0010 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01243 | hp2 | a0001 | c0002 | t0008 | g0200 | AMR | PUR | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01255 | hp1 | a0001 | c0002 | t0002 | g0172 | AMR | CLM | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01255 | hp2 | a0001 | c0003 | t0003 | g0156 | AMR | CLM | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01358 | hp1 | a0001 | c0002 | t0002 | g0110 | AMR | CLM | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01358 | hp2 | a0001 | c0002 | t0035 | g0221 | AMR | CLM | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01361 | hp1 | a0001 | c0008 | t0001 | g0239 | AMR | CLM | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01361 | hp2 | a0002 | c0001 | t0001 | g0096 | AMR | CLM | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01516 | hp1 | a0002 | c0001 | t0015 | g0003 | EUR | IBS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01516 | hp2 | a0001 | c0002 | t0002 | g0117 | EUR | IBS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01517 | hp1 | a0002 | c0017 | t0003 | g0155 | EUR | IBS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01517 | hp2 | a0002 | c0001 | t0015 | g0049 | EUR | IBS | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01884 | hp1 | a0001 | c0002 | t0001 | g0205 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01884 | hp2 | a0003 | c0005 | t0002 | g0184 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01934 | hp1 | a0002 | c0001 | t0001 | g0109 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01934 | hp2 | a0001 | c0002 | t0002 | g0119 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01952 | hp1 | a0008 | c0024 | t0002 | g0167 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01952 | hp2 | a0002 | c0001 | t0002 | g0043 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01975 | hp1 | a0002 | c0001 | t0001 | g0047 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01975 | hp2 | a0001 | c0004 | t0001 | g0229 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02004 | hp1 | a0001 | c0002 | t0001 | g0133 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02004 | hp2 | a0002 | c0001 | t0001 | g0048 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02015 | hp1 | a0003 | c0005 | t0001 | g0014 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02015 | hp2 | a0001 | c0036 | t0012 | g0019 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02027 | hp1 | a0001 | c0003 | t0003 | g0151 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02027 | hp2 | a0002 | c0001 | t0001 | g0001 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02040 | hp1 | a0002 | c0001 | t0030 | g0077 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02040 | hp2 | a0002 | c0001 | t0001 | g0118 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02055 | hp1 | a0001 | c0008 | t0001 | g0240 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02055 | hp2 | a0002 | c0001 | t0001 | g0086 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02056 | hp1 | a0001 | c0003 | t0003 | g0141 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02056 | hp2 | a0003 | c0010 | t0010 | g0013 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02071 | hp1 | a0002 | c0001 | t0017 | g0007 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02071 | hp2 | a0009 | c0037 | t0012 | g0022 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02129 | hp1 | a0006 | c0022 | t0004 | g0215 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02129 | hp2 | a0002 | c0001 | t0001 | g0122 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02135 | hp1 | a0003 | c0005 | t0001 | g0014 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02135 | hp2 | a0001 | c0002 | t0002 | g0030 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02145 | hp1 | a0005 | c0009 | t0007 | g0255 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02145 | hp2 | a0001 | c0003 | t0004 | g0173 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02155 | hp1 | a0001 | c0004 | t0001 | g0230 | EAS | CDX | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02155 | hp2 | a0002 | c0001 | t0001 | g0102 | EAS | CDX | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02257 | hp1 | a0001 | c0002 | t0006 | g0178 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02257 | hp2 | a0002 | c0018 | t0005 | g0036 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02300 | hp1 | a0001 | c0008 | t0001 | g0238 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02300 | hp2 | a0002 | c0001 | t0001 | g0090 | AMR | PEL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02451 | hp1 | a0001 | c0002 | t0024 | g0197 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02451 | hp2 | a0001 | c0003 | t0021 | g0028 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02523 | hp1 | a0004 | c0006 | t0001 | g0166 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02523 | hp2 | a0010 | c0031 | t0004 | g0104 | EAS | KHV | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02572 | hp1 | a0001 | c0029 | t0028 | g0189 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02572 | hp2 | a0005 | c0009 | t0007 | g0254 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02615 | hp1 | a0001 | c0003 | t0006 | g0174 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02615 | hp2 | a0001 | c0002 | t0006 | g0250 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02622 | hp1 | a0001 | c0002 | t0002 | g0194 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02622 | hp2 | a0001 | c0003 | t0001 | g0168 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02630 | hp1 | a0002 | c0001 | t0005 | g0005 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02630 | hp2 | a0001 | c0003 | t0009 | g0179 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02647 | hp1 | a0003 | c0005 | t0004 | g0072 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02647 | hp2 | a0001 | c0003 | t0021 | g0027 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02683 | hp1 | a0001 | c0002 | t0002 | g0120 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02683 | hp2 | a0001 | c0021 | t0001 | g0218 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02717 | hp1 | a0001 | c0002 | t0002 | g0198 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02717 | hp2 | a0002 | c0034 | t0032 | g0093 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02723 | hp1 | a0001 | c0023 | t0002 | g0196 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02723 | hp2 | a0011 | c0038 | t0020 | g0253 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02735 | hp1 | a0001 | c0002 | t0002 | g0092 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02735 | hp2 | a0001 | c0008 | t0001 | g0237 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02738 | hp1 | a0001 | c0004 | t0001 | g0220 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02738 | hp2 | a0001 | c0002 | t0001 | g0105 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02809 | hp1 | a0001 | c0002 | t0007 | g0025 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02809 | hp2 | a0002 | c0001 | t0005 | g0061 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02818 | hp1 | a0001 | c0013 | t0007 | g0190 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02818 | hp2 | a0012 | c0025 | t0020 | g0183 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02895 | hp1 | a0001 | c0003 | t0009 | g0180 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02895 | hp2 | a0005 | c0009 | t0007 | g0016 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02897 | hp1 | a0002 | c0001 | t0005 | g0079 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02897 | hp2 | a0005 | c0009 | t0007 | g0016 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02922 | hp1 | a0001 | c0002 | t0008 | g0012 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02922 | hp2 | a0003 | c0005 | t0009 | g0217 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02965 | hp1 | a0002 | c0001 | t0004 | g0058 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02965 | hp2 | a0001 | c0003 | t0033 | g0026 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02976 | hp1 | a0001 | c0003 | t0006 | g0186 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02976 | hp2 | a0003 | c0005 | t0002 | g0216 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03041 | hp1 | a0002 | c0001 | t0005 | g0005 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03041 | hp2 | a0001 | c0013 | t0007 | g0191 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03098 | hp1 | a0001 | c0002 | t0004 | g0199 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03098 | hp2 | a0001 | c0002 | t0008 | g0202 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03130 | hp1 | a0001 | c0002 | t0011 | g0010 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03130 | hp2 | a0003 | c0005 | t0004 | g0070 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03139 | hp1 | a0001 | c0003 | t0009 | g0170 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03139 | hp2 | a0002 | c0001 | t0005 | g0251 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03195 | hp1 | a0003 | c0005 | t0002 | g0065 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03195 | hp2 | a0001 | c0003 | t0004 | g0176 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03239 | hp1 | a0002 | c0001 | t0001 | g0111 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03239 | hp2 | a0001 | c0004 | t0001 | g0233 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03453 | hp1 | a0001 | c0003 | t0006 | g0188 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03453 | hp2 | a0001 | c0003 | t0001 | g0169 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03486 | hp1 | a0001 | c0002 | t0019 | g0024 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03486 | hp2 | a0001 | c0002 | t0002 | g0192 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03490 | hp1 | a0001 | c0002 | t0001 | g0046 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03490 | hp2 | a0001 | c0004 | t0001 | g0069 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03491 | hp1 | a0001 | c0002 | t0002 | g0124 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03491 | hp2 | a0001 | c0002 | t0001 | g0095 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03516 | hp1 | a0001 | c0002 | t0008 | g0012 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03516 | hp2 | a0003 | c0005 | t0002 | g0067 | AFR | ESN | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03540 | hp1 | a0002 | c0001 | t0004 | g0078 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03540 | hp2 | a0001 | c0002 | t0011 | g0162 | AFR | GWD | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03579 | hp1 | a0002 | c0001 | t0001 | g0056 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03579 | hp2 | a0001 | c0002 | t0008 | g0203 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03669 | hp1 | a0001 | c0002 | t0001 | g0099 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03669 | hp2 | a0002 | c0001 | t0007 | g0053 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03704 | hp1 | a0002 | c0012 | t0001 | g0249 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03704 | hp2 | a0001 | c0003 | t0003 | g0159 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03710 | hp1 | a0003 | c0005 | t0001 | g0115 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03710 | hp2 | a0002 | c0001 | t0002 | g0087 | SAS | PJL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG04184 | hp1 | a0001 | c0003 | t0003 | g0073 | SAS | BEB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG04184 | hp2 | a0004 | c0006 | t0004 | g0135 | SAS | BEB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG04199 | hp1 | a0001 | c0007 | t0012 | g0018 | SAS | STU | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG04199 | hp2 | a0013 | c0026 | t0001 | g0076 | SAS | STU | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18747 | hp1 | a0002 | c0001 | t0001 | g0082 | EAS | CHB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18747 | hp2 | a0003 | c0011 | t0002 | g0161 | EAS | CHB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18906 | hp1 | a0002 | c0033 | t0001 | g0083 | AFR | YRI | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18906 | hp2 | a0001 | c0003 | t0004 | g0177 | AFR | YRI | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18939 | hp1 | a0002 | c0001 | t0016 | g0100 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18939 | hp2 | a0001 | c0003 | t0003 | g0142 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18940 | hp1 | a0002 | c0001 | t0001 | g0084 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18940 | hp2 | a0001 | c0004 | t0002 | g0241 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18943 | hp1 | a0002 | c0012 | t0001 | g0232 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18943 | hp2 | a0001 | c0002 | t0002 | g0008 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18944 | hp1 | a0001 | c0003 | t0003 | g0146 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18944 | hp2 | a0002 | c0001 | t0001 | g0108 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18946 | hp1 | a0001 | c0004 | t0022 | g0227 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18946 | hp2 | a0002 | c0001 | t0001 | g0098 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18952 | hp1 | a0003 | c0005 | t0001 | g0152 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18952 | hp2 | a0002 | c0001 | t0001 | g0001 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18954 | hp1 | a0001 | c0003 | t0001 | g0009 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18954 | hp2 | a0002 | c0001 | t0003 | g0101 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18956 | hp1 | a0001 | c0003 | t0003 | g0139 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18956 | hp2 | a0002 | c0001 | t0001 | g0126 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18957 | hp1 | a0002 | c0001 | t0001 | g0088 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18957 | hp2 | a0003 | c0005 | t0004 | g0207 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18960 | hp1 | a0002 | c0001 | t0001 | g0042 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18960 | hp2 | a0002 | c0001 | t0001 | g0041 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18962 | hp1 | a0001 | c0004 | t0018 | g0242 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18962 | hp2 | a0001 | c0003 | t0003 | g0140 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18965 | hp1 | a0001 | c0007 | t0013 | g0017 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18965 | hp2 | a0014 | c0027 | t0001 | g0127 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18967 | hp1 | a0001 | c0003 | t0027 | g0244 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18967 | hp2 | a0002 | c0001 | t0001 | g0038 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18968 | hp1 | a0001 | c0003 | t0001 | g0143 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18968 | hp2 | a0003 | c0005 | t0001 | g0214 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18969 | hp1 | a0002 | c0001 | t0001 | g0040 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18969 | hp2 | a0001 | c0004 | t0002 | g0243 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18970 | hp1 | a0002 | c0001 | t0001 | g0052 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18970 | hp2 | a0003 | c0011 | t0002 | g0163 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18971 | hp1 | a0002 | c0001 | t0001 | g0103 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18971 | hp2 | a0001 | c0004 | t0003 | g0246 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18973 | hp1 | a0001 | c0004 | t0001 | g0234 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18973 | hp2 | a0002 | c0030 | t0001 | g0113 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18975 | hp1 | a0002 | c0001 | t0001 | g0037 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18975 | hp2 | a0003 | c0010 | t0010 | g0013 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18977 | hp1 | a0003 | c0005 | t0004 | g0210 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18977 | hp2 | a0002 | c0001 | t0017 | g0007 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18979 | hp1 | a0003 | c0005 | t0004 | g0206 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18979 | hp2 | a0002 | c0001 | t0001 | g0097 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18982 | hp1 | a0002 | c0001 | t0001 | g0107 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18982 | hp2 | a0002 | c0001 | t0016 | g0035 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18983 | hp1 | a0002 | c0001 | t0001 | g0002 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18983 | hp2 | a0001 | c0004 | t0001 | g0015 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18986 | hp1 | a0004 | c0006 | t0001 | g0213 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18986 | hp2 | a0001 | c0003 | t0004 | g0136 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18988 | hp1 | a0003 | c0011 | t0002 | g0164 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18988 | hp2 | a0002 | c0001 | t0025 | g0029 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18991 | hp1 | a0002 | c0001 | t0001 | g0039 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18991 | hp2 | a0001 | c0004 | t0001 | g0236 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18994 | hp1 | a0004 | c0006 | t0001 | g0208 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18994 | hp2 | a0001 | c0004 | t0001 | g0222 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18999 | hp1 | a0002 | c0001 | t0001 | g0001 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18999 | hp2 | a0001 | c0004 | t0001 | g0248 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19000 | hp1 | a0002 | c0001 | t0001 | g0002 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19000 | hp2 | a0001 | c0003 | t0003 | g0144 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19003 | hp1 | a0002 | c0001 | t0001 | g0034 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19003 | hp2 | a0001 | c0002 | t0001 | g0063 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19004 | hp1 | a0001 | c0003 | t0001 | g0009 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19004 | hp2 | a0001 | c0002 | t0001 | g0075 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19005 | hp1 | a0002 | c0001 | t0001 | g0050 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19005 | hp2 | a0003 | c0005 | t0001 | g0153 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19007 | hp1 | a0002 | c0001 | t0001 | g0051 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19007 | hp2 | a0001 | c0004 | t0001 | g0235 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19030 | hp1 | a0001 | c0002 | t0002 | g0252 | AFR | LWK | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19030 | hp2 | a0003 | c0005 | t0002 | g0066 | AFR | LWK | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19043 | hp1 | a0002 | c0001 | t0005 | g0081 | AFR | LWK | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19043 | hp2 | a0001 | c0003 | t0004 | g0175 | AFR | LWK | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19056 | hp1 | a0002 | c0001 | t0003 | g0128 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19056 | hp2 | a0001 | c0003 | t0026 | g0150 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19062 | hp1 | a0002 | c0001 | t0023 | g0033 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19062 | hp2 | a0001 | c0002 | t0002 | g0008 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19064 | hp1 | a0004 | c0006 | t0001 | g0212 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19064 | hp2 | a0001 | c0003 | t0003 | g0138 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19066 | hp1 | a0001 | c0007 | t0013 | g0021 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19066 | hp2 | a0002 | c0019 | t0001 | g0059 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19068 | hp1 | a0001 | c0004 | t0036 | g0256 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19068 | hp2 | a0001 | c0002 | t0001 | g0023 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19079 | hp1 | a0001 | c0004 | t0001 | g0228 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19079 | hp2 | a0002 | c0001 | t0001 | g0002 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19083 | hp1 | a0003 | c0005 | t0018 | g0211 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19083 | hp2 | a0002 | c0001 | t0001 | g0123 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19086 | hp1 | a0001 | c0002 | t0001 | g0130 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19086 | hp2 | a0001 | c0004 | t0001 | g0015 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19090 | hp1 | a0001 | c0003 | t0003 | g0147 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19090 | hp2 | a0002 | c0001 | t0001 | g0001 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19240 | hp1 | a0001 | c0002 | t0008 | g0193 | AFR | YRI | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA19240 | hp2 | a0001 | c0002 | t0006 | g0181 | AFR | YRI | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA20129 | hp1 | a0001 | c0002 | t0008 | g0201 | AFR | ASW | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA20129 | hp2 | a0001 | c0002 | t0002 | g0195 | AFR | ASW | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA20752 | hp1 | a0001 | c0002 | t0001 | g0125 | EUR | TSI | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA20752 | hp2 | a0001 | c0003 | t0003 | g0154 | EUR | TSI | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA20805 | hp1 | a0001 | c0035 | t0001 | g0225 | EUR | TSI | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA20805 | hp2 | a0001 | c0003 | t0002 | g0054 | EUR | TSI | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA20905 | hp1 | a0002 | c0001 | t0001 | g0001 | SAS | GIH | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA20905 | hp2 | a0003 | c0005 | t0001 | g0219 | SAS | GIH | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01123 | hp1 | a0001 | c0002 | t0029 | g0134 | AMR | CLM | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG01123 | hp2 | a0002 | c0001 | t0015 | g0003 | AMR | CLM | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02109 | hp1 | a0001 | c0002 | t0006 | g0182 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02109 | hp2 | a0001 | c0003 | t0014 | g0187 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02486 | hp1 | a0001 | c0002 | t0001 | g0204 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02486 | hp2 | a0001 | c0004 | t0001 | g0223 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02559 | hp1 | a0001 | c0003 | t0003 | g0145 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG02559 | hp2 | a0001 | c0002 | t0004 | g0055 | AFR | ACB | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03471 | hp1 | a0002 | c0001 | t0005 | g0080 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG03471 | hp2 | a0001 | c0002 | t0019 | g0031 | AFR | MSL | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG06807 | hp1 | a0002 | c0001 | t0001 | g0057 | AFR | USA | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| HG06807 | hp2 | a0001 | c0014 | t0002 | g0044 | AFR | USA | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18955 | hp1 | a0001 | c0003 | t0003 | g0149 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA18955 | hp2 | a0001 | c0002 | t0002 | g0074 | EAS | JPT | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA21309 | hp1 | a0001 | c0003 | t0009 | g0171 | AFR | LWK | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| NA21309 | hp2 | a0015 | c0032 | t0002 | g0089 | AFR | LWK | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| homoSapiens | chm13v2 | a0002 | c0001 | t0001 | g0060 | REF | REF | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| homoSapiens | grch38p0 | a0001 | c0002 | t0001 | g0091 | REF | REF | PTCH1_chr9_95437980_95521971 | PTCH1 | chr9 | 95437980 | 95521971 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:95446931 | C | T | 1 | a0014 | 1 | NA18965.hp2 | missense_variant | MODERATE | c.4322G>A | p.Arg1441Gln | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/24 | 4473/7905 | 4322/4341 | 1441/1446 | chr9 | 95446931 | |||
| chr9:95446967 | A | G | 1 | a0012 | 1 | HG02818.hp2 | missense_variant | MODERATE | c.4286T>C | p.Ile1429Thr | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/24 | 4437/7905 | 4286/4341 | 1429/1446 | chr9 | 95446967 | |||
| chr9:95447108 | G | A | 1 | a0013 | 1 | HG04199.hp2 | missense_variant | MODERATE | c.4145C>T | p.Pro1382Leu | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/24 | 4296/7905 | 4145/4341 | 1382/1446 | chr9 | 95447108 | |||
| chr9:95447312 | G | A | 6 | a0002 a0004 a0009 others(3): Show |
95 | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(92): Show |
missense_variant | MODERATE | c.3941C>T | p.Pro1314Leu | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/24 | 4092/7905 | 3941/4341 | 1314/1446 | chr9 | 95447312 | |||
| chr9:95447349 | G | A | 1 | a0006 | 2 | HG00558.hp2 HG02129.hp1 |
missense_variant | MODERATE | c.3904C>T | p.Arg1302Cys | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/24 | 4055/7905 | 3904/4341 | 1302/1446 | chr9 | 95447349 | |||
| chr9:95447411 | G | A | 1 | a0005 | 4 | HG02145.hp1 HG02572.hp2 HG02895.hp2 others(1): Show |
missense_variant | MODERATE | c.3842C>T | p.Pro1281Leu | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/24 | 3993/7905 | 3842/4341 | 1281/1446 | chr9 | 95447411 | |||
| chr9:95449107 | C | T | 1 | a0008 | 1 | HG01952.hp1 | missense_variant | MODERATE | c.3763G>A | p.Val1255Met | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/24 | 3914/7905 | 3763/4341 | 1255/1446 | chr9 | 95449107 | |||
| chr9:95449290 | T | A | 3 | a0003 a0004 a0006 |
33 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(30): Show |
missense_variant | MODERATE | c.3580A>T | p.Thr1194Ser | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/24 | 3731/7905 | 3580/4341 | 1194/1446 | chr9 | 95449290 | |||
| chr9:95467197 | T | C | 1 | a0009 | 1 | HG02071.hp2 | missense_variant | MODERATE | c.2476A>G | p.Ser826Gly | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/24 | 2627/7905 | 2476/4341 | 826/1446 | chr9 | 95467197 | |||
| chr9:95468779 | G | A | 1 | a0010 | 1 | HG02523.hp2 | missense_variant | MODERATE | c.2219C>T | p.Ala740Val | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/24 | 2370/7905 | 2219/4341 | 740/1446 | chr9 | 95468779 | |||
| chr9:95468828 | G | A | 1 | a0015 | 1 | NA21309.hp2 | missense_variant | MODERATE | c.2170C>T | p.Pro724Ser | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/24 | 2321/7905 | 2170/4341 | 724/1446 | chr9 | 95468828 | |||
| chr9:95476101 | C | T | 1 | a0007 | 1 | HG01069.hp2 | missense_variant | MODERATE | c.1658G>A | p.Ser553Asn | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/24 | 1809/7905 | 1658/4341 | 553/1446 | chr9 | 95476101 | |||
| chr9:95516658 | C | G | 2 | a0001 a0012 |
16 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(13): Show |
missense_variant | MODERATE | c.163G>C | p.Asp55His | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/24 | 314/7905 | 163/4341 | 55/1446 | chr9 | 95516658 | |||
| chr9:95516690 | T | C | 3 | a0005 a0009 a0011 |
6 | HG02071.hp2 HG02145.hp1 HG02572.hp2 others(3): Show |
missense_variant | MODERATE | c.131A>G | p.Glu44Gly | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/24 | 282/7905 | 131/4341 | 44/1446 | chr9 | 95516690 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:95447176 | G | A | 2 | a0001c0035 a0002c0028 |
2 | HG00558.hp1 NA20805.hp1 |
synonymous_variant | LOW | c.4077C>T | p.Ser1359Ser | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/24 | 4228/7905 | 4077/4341 | 1359/1446 | chr9 | 95447176 | |||
| chr9:95449186 | C | T | 1 | a0001c0023 | 1 | HG02723.hp1 | synonymous_variant | LOW | c.3684G>A | p.Thr1228Thr | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/24 | 3835/7905 | 3684/4341 | 1228/1446 | chr9 | 95449186 | |||
| chr9:95449249 | G | A | 1 | a0001c0029 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.3621C>T | p.Ala1207Ala | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/24 | 3772/7905 | 3621/4341 | 1207/1446 | chr9 | 95449249 | |||
| chr9:95449306 | G | A | 1 | a0001c0014 | 2 | HG01081.hp2 HG06807.hp2 |
synonymous_variant | LOW | c.3564C>T | p.Gly1188Gly | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/24 | 3715/7905 | 3564/4341 | 1188/1446 | chr9 | 95449306 | |||
| chr9:95453540 | G | A | 1 | a0002c0030 | 1 | NA18973.hp2 | synonymous_variant | LOW | c.3384C>T | p.Gly1128Gly | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/24 | 3535/7905 | 3384/4341 | 1128/1446 | chr9 | 95453540 | |||
| chr9:95456387 | G | A | 1 | a0002c0034 | 1 | HG02717.hp2 | synonymous_variant | LOW | c.3192C>T | p.Val1064Val | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/24 | 3343/7905 | 3192/4341 | 1064/1446 | chr9 | 95456387 | |||
| chr9:95458040 | A | C | 7 | a0001c0021 a0003c0005 a0003c0010 others(4): Show |
31 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(28): Show |
synonymous_variant | LOW | c.3138T>G | p.Leu1046Leu | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/24 | 3289/7905 | 3138/4341 | 1046/1446 | chr9 | 95458040 | |||
| chr9:95458268 | A | G | 2 | a0003c0010 a0004c0020 |
4 | HG00609.hp1 HG00673.hp2 HG02056.hp2 others(1): Show |
synonymous_variant | LOW | c.2910T>C | p.Tyr970Tyr | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/24 | 3061/7905 | 2910/4341 | 970/1446 | chr9 | 95458268 | |||
| chr9:95458271 | C | T | 1 | a0002c0019 | 1 | NA19066.hp2 | synonymous_variant | LOW | c.2907G>A | p.Glu969Glu | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/24 | 3058/7905 | 2907/4341 | 969/1446 | chr9 | 95458271 | |||
| chr9:95459688 | C | T | 1 | a0001c0013 | 2 | HG02818.hp1 HG03041.hp2 |
synonymous_variant | LOW | c.2796G>A | p.Ala932Ala | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/24 | 2947/7905 | 2796/4341 | 932/1446 | chr9 | 95459688 | |||
| chr9:95468802 | T | C | 3 | a0001c0007 a0001c0036 a0009c0037 |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
synonymous_variant | LOW | c.2196A>G | p.Ser732Ser | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/24 | 2347/7905 | 2196/4341 | 732/1446 | chr9 | 95468802 | |||
| chr9:95469039 | C | T | 1 | a0002c0018 | 1 | HG02257.hp2 | synonymous_variant | LOW | c.1959G>A | p.Thr653Thr | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/24 | 2110/7905 | 1959/4341 | 653/1446 | chr9 | 95469039 | |||
| chr9:95469147 | G | A | 2 | a0002c0033 a0002c0034 |
2 | HG02717.hp2 NA18906.hp1 |
synonymous_variant | LOW | c.1851C>T | p.Cys617Cys | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/24 | 2002/7905 | 1851/4341 | 617/1446 | chr9 | 95469147 | |||
| chr9:95476076 | G | A | 4 | a0001c0004 a0001c0008 a0001c0035 others(1): Show |
30 | HG00140.hp2 HG00609.hp2 HG01175.hp1 others(27): Show |
synonymous_variant | LOW | c.1683C>T | p.Ala561Ala | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/24 | 1834/7905 | 1683/4341 | 561/1446 | chr9 | 95476076 | |||
| chr9:95476097 | A | G | 6 | a0001c0003 a0001c0007 a0001c0036 others(3): Show |
52 | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(49): Show |
synonymous_variant | LOW | c.1662T>C | p.Asn554Asn | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/24 | 1813/7905 | 1662/4341 | 554/1446 | chr9 | 95476097 | |||
| chr9:95481960 | T | C | 1 | a0001c0008 | 4 | HG01361.hp1 HG02055.hp1 HG02300.hp1 others(1): Show |
synonymous_variant | LOW | c.732A>G | p.Thr244Thr | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/24 | 883/7905 | 732/4341 | 244/1446 | chr9 | 95481960 | |||
| chr9:95506597 | C | A | 1 | a0001c0036 | 1 | HG02015.hp2 | splice_region_variant&synonymous_variant | LOW | c.201G>T | p.Gly67Gly | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/24 | 352/7905 | 201/4341 | 67/1446 | chr9 | 95506597 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:95443161 | C | A | 14 | a0001c0002t0002 a0001c0002t0024 a0001c0003t0002 others(11): Show |
41 | HG00639.hp2 HG01071.hp1 HG01074.hp1 others(38): Show |
3_prime_UTR_variant | MODIFIER | c.*3232G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 3751 | chr9 | 95443161 | ||||||
| chr9:95443236 | C | T | 3 | a0001c0007t0012 a0001c0036t0012 a0009c0037t0012 |
3 | HG02015.hp2 HG02071.hp2 HG04199.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3157G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 3676 | chr9 | 95443236 | ||||||
| chr9:95443363 | T | C | 28 | a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(25): Show |
78 | HG00597.hp1 HG01074.hp2 HG01081.hp1 others(75): Show |
3_prime_UTR_variant | MODIFIER | c.*3030A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 3549 | chr9 | 95443363 | ||||||
| chr9:95443397 | TACAA | T | 2 | a0001c0002t0014 a0001c0003t0014 |
3 | HG01069.hp1 HG01071.hp2 HG02109.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2992_*2995delTTGT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 3511 | chr9 | 95443397 | ||||||
| chr9:95443613 | T | A | 1 | a0002c0001t0030 | 1 | HG02040.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2780A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 3299 | chr9 | 95443613 | ||||||
| chr9:95443735 | A | C | 1 | a0002c0034t0032 | 1 | HG02717.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2658T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 3177 | chr9 | 95443735 | ||||||
| chr9:95444104 | G | GT | 9 | a0001c0002t0004 a0001c0003t0004 a0002c0001t0004 others(6): Show |
21 | HG00609.hp1 HG00673.hp2 HG02056.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*2288dupA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2807 | chr9 | 95444104 | ||||||
| chr9:95444104 | GT | G | 4 | a0001c0003t0026 a0001c0003t0033 a0002c0001t0016 others(1): Show |
5 | HG00639.hp2 HG02965.hp2 NA18939.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2288delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2807 | chr9 | 95444104 | ||||||
| chr9:95444117 | T | A | 1 | a0001c0013t0007 | 2 | HG02818.hp1 HG03041.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2276A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2795 | chr9 | 95444117 | ||||||
| chr9:95444117 | TA | T | 3 | a0001c0007t0012 a0002c0001t0005 a0009c0037t0012 |
4 | HG02071.hp2 HG03041.hp1 HG04199.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2275delT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2794 | chr9 | 95444117 | ||||||
| chr9:95444118 | A | T | 13 | a0001c0002t0008 a0001c0002t0011 a0001c0002t0014 others(10): Show |
30 | HG01069.hp1 HG01071.hp2 HG01109.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*2275T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2794 | chr9 | 95444118 | ||||||
| chr9:95444488 | G | C | 5 | a0001c0002t0008 a0002c0001t0005 a0002c0018t0005 others(2): Show |
17 | HG01243.hp2 HG02257.hp2 HG02630.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1905C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2424 | chr9 | 95444488 | ||||||
| chr9:95444491 | ACACACAC others(11): Show |
A | 3 | a0001c0007t0012 a0001c0036t0012 a0009c0037t0012 |
3 | HG02015.hp2 HG02071.hp2 HG04199.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1884_*1901delCGTG others(14): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2403 | chr9 | 95444491 | ||||||
| chr9:95444501 | G | A | 1 | a0001c0002t0029 | 1 | HG01123.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1892C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2411 | chr9 | 95444501 | ||||||
| chr9:95444509 | G | GCA | 19 | a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(16): Show |
54 | HG00597.hp1 HG01074.hp2 HG01081.hp1 others(51): Show |
3_prime_UTR_variant | MODIFIER | c.*1882_*1883dupTG | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2402 | chr9 | 95444509 | ||||||
| chr9:95444509 | G | GCACACA | 5 | a0001c0002t0008 a0002c0001t0005 a0002c0018t0005 others(2): Show |
16 | HG01243.hp2 HG02257.hp2 HG02630.hp1 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*1878_*1883dupTGTG others(2): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2402 | chr9 | 95444509 | ||||||
| chr9:95444509 | G | GCACACAC others(3): Show |
1 | a0002c0001t0005 | 1 | HG02809.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1874_*1883dupTGTG others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2402 | chr9 | 95444509 | ||||||
| chr9:95444513 | A | G | 1 | a0001c0002t0029 | 1 | HG01123.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1880T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2399 | chr9 | 95444513 | ||||||
| chr9:95444571 | T | G | 1 | a0001c0003t0027 | 1 | NA18967.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1822A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2341 | chr9 | 95444571 | ||||||
| chr9:95444684 | C | T | 5 | a0001c0002t0008 a0002c0001t0005 a0002c0018t0005 others(2): Show |
17 | HG01243.hp2 HG02257.hp2 HG02630.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1709G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2228 | chr9 | 95444684 | ||||||
| chr9:95444685 | G | A | 3 | a0002c0001t0017 a0003c0010t0010 a0004c0020t0010 |
6 | HG00609.hp1 HG00673.hp2 HG02056.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1708C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2227 | chr9 | 95444685 | ||||||
| chr9:95444691 | G | A | 2 | a0002c0001t0005 a0002c0018t0005 |
8 | HG02257.hp2 HG02630.hp1 HG02809.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1702C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2221 | chr9 | 95444691 | ||||||
| chr9:95444777 | T | G | 5 | a0001c0002t0008 a0002c0001t0005 a0002c0018t0005 others(2): Show |
17 | HG01243.hp2 HG02257.hp2 HG02630.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1616A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2135 | chr9 | 95444777 | ||||||
| chr9:95444848 | A | G | 3 | a0001c0002t0019 a0001c0003t0021 a0001c0014t0034 |
5 | HG01081.hp2 HG02451.hp2 HG02647.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1545T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2064 | chr9 | 95444848 | ||||||
| chr9:95444858 | A | G | 3 | a0001c0002t0019 a0001c0003t0021 a0001c0014t0034 |
5 | HG01081.hp2 HG02451.hp2 HG02647.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1535T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 2054 | chr9 | 95444858 | ||||||
| chr9:95445020 | C | G | 8 | a0001c0002t0003 a0001c0003t0003 a0001c0003t0026 others(5): Show |
27 | HG00597.hp1 HG01074.hp2 HG01099.hp1 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*1373G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1892 | chr9 | 95445020 | ||||||
| chr9:95445327 | T | G | 2 | a0001c0003t0021 a0001c0014t0034 |
3 | HG01081.hp2 HG02451.hp2 HG02647.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1066A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1585 | chr9 | 95445327 | ||||||
| chr9:95445542 | C | G | 1 | a0001c0002t0008 | 7 | HG01243.hp2 HG02922.hp1 HG03098.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*851G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1370 | chr9 | 95445542 | ||||||
| chr9:95445592 | G | A | 1 | a0001c0014t0034 | 1 | HG01081.hp2 | 3_prime_UTR_variant | MODIFIER | c.*801C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1320 | chr9 | 95445592 | ||||||
| chr9:95445606 | G | A | 2 | a0001c0004t0018 a0003c0005t0018 |
2 | NA18962.hp1 NA19083.hp1 |
3_prime_UTR_variant | MODIFIER | c.*787C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1306 | chr9 | 95445606 | ||||||
| chr9:95445613 | G | A | 3 | a0001c0007t0012 a0001c0036t0012 a0009c0037t0012 |
3 | HG02015.hp2 HG02071.hp2 HG04199.hp1 |
3_prime_UTR_variant | MODIFIER | c.*780C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1299 | chr9 | 95445613 | ||||||
| chr9:95445644 | G | GAAAT | 3 | a0001c0007t0012 a0001c0036t0012 a0009c0037t0012 |
3 | HG02015.hp2 HG02071.hp2 HG04199.hp1 |
3_prime_UTR_variant | MODIFIER | c.*748_*749insATTT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1267 | chr9 | 95445644 | ||||||
| chr9:95445644 | G | GAAGT | 9 | a0001c0002t0003 a0001c0003t0003 a0001c0003t0026 others(6): Show |
28 | HG00597.hp1 HG01074.hp2 HG01099.hp1 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*748_*749insACTT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1267 | chr9 | 95445644 | ||||||
| chr9:95445728 | C | CA | 19 | a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 others(16): Show |
44 | HG01069.hp1 HG01071.hp2 HG01081.hp2 others(41): Show |
3_prime_UTR_variant | MODIFIER | c.*664dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 1183 | chr9 | 95445728 | ||||||
| chr9:95445943 | T | G | 1 | a0001c0002t0035 | 1 | HG01358.hp2 | 3_prime_UTR_variant | MODIFIER | c.*450A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 969 | chr9 | 95445943 | ||||||
| chr9:95446156 | C | G | 8 | a0001c0002t0008 a0001c0002t0014 a0001c0002t0024 others(5): Show |
24 | HG01069.hp1 HG01071.hp2 HG01243.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*237G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 756 | chr9 | 95446156 | ||||||
| chr9:95446162 | A | G | 1 | a0002c0001t0015 | 3 | HG01123.hp2 HG01516.hp1 HG01517.hp2 |
3_prime_UTR_variant | MODIFIER | c.*231T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 750 | chr9 | 95446162 | ||||||
| chr9:95446248 | A | G | 1 | a0002c0001t0023 | 1 | NA19062.hp1 | 3_prime_UTR_variant | MODIFIER | c.*145T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 664 | chr9 | 95446248 | ||||||
| chr9:95446288 | C | T | 1 | a0001c0004t0022 | 1 | NA18946.hp1 | 3_prime_UTR_variant | MODIFIER | c.*105G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 624 | chr9 | 95446288 | ||||||
| chr9:95446308 | C | T | 2 | a0001c0002t0014 a0001c0003t0014 |
3 | HG01069.hp1 HG01071.hp2 HG02109.hp2 |
3_prime_UTR_variant | MODIFIER | c.*85G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 24/24 | 604 | chr9 | 95446308 | ||||||
| chr9:95516875 | T | A | 1 | a0001c0004t0036 | 1 | NA19068.hp1 | 5_prime_UTR_variant | MODIFIER | c.-55A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/24 | 55 | chr9 | 95516875 | ||||||
| chr9:95516878 | C | A | 1 | a0001c0004t0036 | 1 | NA19068.hp1 | 5_prime_UTR_variant | MODIFIER | c.-58G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/24 | 58 | chr9 | 95516878 | ||||||
| chr9:95516952 | C | T | 4 | a0001c0007t0012 a0001c0007t0013 a0001c0036t0012 others(1): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-132G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/24 | chr9 | 95516952 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:95446437 | G | A | 1 | a0001c0002t0011g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.*2-46C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446437 | |||||||
| chr9:95446505 | G | A | 5 | a0001c0002t0001g0063 a0001c0002t0001g0075 a0001c0002t0001g0130 others(2): Show |
5 | NA18962.hp1 NA19003.hp2 NA19004.hp2 others(2): Show |
intron_variant | MODIFIER | c.*2-114C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446505 | |||||||
| chr9:95446508 | G | A | 1 | a0002c0001t0003g0101 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.*2-117C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446508 | |||||||
| chr9:95446571 | C | T | 1 | a0001c0008t0001g0238 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.*2-180G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446571 | |||||||
| chr9:95446682 | C | T | 2 | a0001c0002t0003g0226 a0001c0003t0003g0145 |
2 | HG01074.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.*1+229G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446682 | |||||||
| chr9:95446773 | A | G | 2 | a0001c0002t0008g0193 a0002c0034t0032g0093 |
2 | HG02717.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.*1+138T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446773 | |||||||
| chr9:95446812 | C | T | 2 | a0002c0001t0001g0041 a0002c0001t0001g0051 |
2 | NA18960.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.*1+99G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446812 | |||||||
| chr9:95446874 | T | C | 18 | a0001c0004t0001g0236 a0002c0001t0001g0002 a0002c0001t0001g0034 others(15): Show |
21 | HG00597.hp2 HG02040.hp1 NA18939.hp1 others(18): Show |
intron_variant | MODIFIER | c.*1+37A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446874 | |||||||
| chr9:95446904 | C | T | 1 | a0002c0001t0001g0037 | 1 | NA18975.hp1 | splice_region_variant&intron_variant | LOW | c.*1+7G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 23/23 | chr9 | 95446904 | |||||||
| chr9:95447460 | G | A | 2 | a0002c0001t0001g0107 a0014c0027t0001g0127 |
2 | NA18965.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.3802-9C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95447460 | |||||||
| chr9:95447617 | C | T | 8 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(5): Show |
9 | HG00423.hp2 HG00609.hp1 HG02015.hp2 others(6): Show |
intron_variant | MODIFIER | c.3802-166G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95447617 | |||||||
| chr9:95447648 | A | T | 8 | a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 others(5): Show |
9 | HG01069.hp1 HG01071.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.3802-197T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95447648 | |||||||
| chr9:95447676 | G | A | 27 | a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 others(24): Show |
31 | HG00423.hp2 HG00609.hp1 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.3802-225C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95447676 | |||||||
| chr9:95447802 | G | A | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3802-351C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95447802 | |||||||
| chr9:95447888 | G | A | 8 | a0001c0002t0004g0055 a0003c0005t0002g0184 a0003c0005t0002g0216 others(5): Show |
8 | HG01884.hp2 HG02559.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.3802-437C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95447888 | |||||||
| chr9:95448223 | C | T | 2 | a0001c0002t0006g0181 a0001c0002t0006g0182 |
2 | HG02109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.3802-772G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95448223 | |||||||
| chr9:95448224 | G | A | 1 | a0001c0002t0008g0193 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3802-773C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95448224 | |||||||
| chr9:95448227 | C | T | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3802-776G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95448227 | |||||||
| chr9:95448659 | G | T | 59 | a0001c0002t0002g0252 a0001c0002t0003g0226 a0001c0002t0004g0199 others(56): Show |
60 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(57): Show |
intron_variant | MODIFIER | c.3801+410C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95448659 | |||||||
| chr9:95448730 | G | GA | 33 | a0001c0002t0001g0063 a0001c0003t0003g0151 a0003c0005t0001g0014 others(30): Show |
35 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.3801+338dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 22/23 | chr9 | 95448730 | |||||||
| chr9:95449438 | C | A | 2 | a0001c0003t0001g0168 a0001c0003t0001g0169 |
2 | HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.3547-115G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 21/23 | chr9 | 95449438 | |||||||
| chr9:95449661 | G | A | 1 | a0001c0003t0001g0009 | 2 | NA18954.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.3546+180C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 21/23 | chr9 | 95449661 | |||||||
| chr9:95449678 | C | G | 1 | a0001c0008t0001g0237 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.3546+163G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 21/23 | chr9 | 95449678 | |||||||
| chr9:95449706 | C | T | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.3546+135G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 21/23 | chr9 | 95449706 | |||||||
| chr9:95449803 | C | A | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.3546+38G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 21/23 | chr9 | 95449803 | |||||||
| chr9:95450027 | C | T | 1 | a0001c0003t0003g0151 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3447-87G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95450027 | |||||||
| chr9:95450072 | A | C | 2 | a0001c0003t0001g0168 a0001c0003t0001g0169 |
2 | HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.3447-132T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95450072 | |||||||
| chr9:95450238 | A | G | 1 | a0002c0033t0001g0083 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3447-298T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95450238 | |||||||
| chr9:95450270 | C | T | 8 | a0001c0002t0002g0252 a0001c0002t0004g0199 a0001c0002t0006g0178 others(5): Show |
8 | HG01952.hp1 HG02109.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.3447-330G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95450270 | |||||||
| chr9:95450326 | C | T | 29 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(26): Show |
30 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(27): Show |
intron_variant | MODIFIER | c.3447-386G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95450326 | |||||||
| chr9:95450788 | G | C | 3 | a0001c0003t0004g0173 a0001c0003t0006g0174 a0008c0024t0002g0167 |
3 | HG01952.hp1 HG02145.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.3447-848C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95450788 | |||||||
| chr9:95451004 | A | AG | 29 | a0001c0002t0011g0165 a0001c0002t0035g0221 a0001c0004t0001g0015 others(26): Show |
30 | HG00140.hp2 HG01109.hp2 HG01175.hp1 others(27): Show |
intron_variant | MODIFIER | c.3447-1065dupC | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95451004 | |||||||
| chr9:95451071 | T | G | 2 | a0001c0014t0002g0044 a0001c0014t0034g0068 |
2 | HG01081.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.3447-1131A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95451071 | |||||||
| chr9:95451404 | G | C | 1 | a0001c0003t0009g0171 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3447-1464C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95451404 | |||||||
| chr9:95451446 | C | G | 28 | a0001c0002t0035g0221 a0001c0004t0001g0015 a0001c0004t0001g0069 others(25): Show |
29 | HG00140.hp2 HG01175.hp1 HG01358.hp2 others(26): Show |
intron_variant | MODIFIER | c.3447-1506G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95451446 | |||||||
| chr9:95451478 | G | A | 1 | a0001c0004t0001g0223 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3447-1538C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95451478 | |||||||
| chr9:95451627 | T | C | 2 | a0001c0002t0006g0181 a0001c0002t0006g0182 |
2 | HG02109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.3447-1687A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95451627 | |||||||
| chr9:95452085 | A | G | 28 | a0001c0002t0035g0221 a0001c0004t0001g0015 a0001c0004t0001g0069 others(25): Show |
29 | HG00140.hp2 HG01175.hp1 HG01358.hp2 others(26): Show |
intron_variant | MODIFIER | c.3446+1393T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452085 | |||||||
| chr9:95452328 | G | GAC | 5 | a0001c0002t0001g0095 a0001c0002t0002g0172 a0001c0002t0024g0197 others(2): Show |
5 | HG01255.hp1 HG02451.hp1 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.3446+1148_3446+114 others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACAC | 12 | a0001c0002t0001g0204 a0001c0002t0002g0252 a0001c0002t0006g0185 others(9): Show |
14 | HG01069.hp1 HG01071.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.3446+1144_3446+114 others(10): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACACA others(1): Show |
7 | a0001c0002t0001g0205 a0001c0002t0002g0192 a0001c0002t0002g0194 others(4): Show |
7 | HG01358.hp2 HG01884.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3446+1142_3446+114 others(12): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACACA others(3): Show |
32 | a0001c0002t0006g0178 a0001c0002t0006g0250 a0001c0002t0019g0024 others(29): Show |
33 | HG00140.hp2 HG01175.hp1 HG01361.hp1 others(30): Show |
intron_variant | MODIFIER | c.3446+1140_3446+114 others(14): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACACA others(5): Show |
11 | a0001c0003t0003g0146 a0001c0003t0003g0158 a0001c0003t0004g0173 others(8): Show |
11 | HG00423.hp2 HG01192.hp2 HG01952.hp1 others(8): Show |
intron_variant | MODIFIER | c.3446+1138_3446+114 others(16): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACACA others(7): Show |
10 | a0001c0002t0004g0199 a0001c0002t0006g0181 a0001c0002t0006g0182 others(7): Show |
10 | HG02027.hp1 HG02109.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.3446+1136_3446+114 others(18): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACACA others(9): Show |
25 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(22): Show |
26 | HG00738.hp2 HG01099.hp1 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.3446+1134_3446+114 others(20): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACACA others(11): Show |
5 | a0001c0003t0003g0147 a0001c0004t0003g0246 a0001c0007t0012g0018 others(2): Show |
5 | HG01517.hp1 HG02015.hp2 HG04199.hp1 others(2): Show |
intron_variant | MODIFIER | c.3446+1132_3446+114 others(22): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACACA others(13): Show |
1 | a0001c0003t0004g0136 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.3446+1130_3446+114 others(24): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | G | GACACACA others(15): Show |
1 | a0001c0003t0003g0148 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.3446+1128_3446+114 others(26): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452328 | GAC | G | 85 | a0001c0002t0001g0046 a0001c0002t0001g0099 a0001c0002t0001g0245 others(82): Show |
99 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.3446+1148_3446+114 others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452328 | |||||||
| chr9:95452356 | C | CACACACA others(6): Show |
1 | a0001c0002t0003g0226 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.3446+1121_3446+112 others(17): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452356 | |||||||
| chr9:95452357 | A | ACACACAC others(12): Show |
1 | a0001c0003t0027g0244 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.3446+1120_3446+112 others(23): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452357 | |||||||
| chr9:95452476 | C | T | 38 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(35): Show |
40 | HG00140.hp2 HG01069.hp1 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.3446+1002G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452476 | |||||||
| chr9:95452903 | T | C | 29 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(26): Show |
30 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(27): Show |
intron_variant | MODIFIER | c.3446+575A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95452903 | |||||||
| chr9:95453024 | C | T | 50 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(47): Show |
54 | HG00140.hp2 HG01069.hp1 HG01071.hp2 others(51): Show |
intron_variant | MODIFIER | c.3446+454G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95453024 | |||||||
| chr9:95453046 | T | C | 6 | a0001c0002t0008g0012 a0001c0002t0008g0193 a0001c0002t0008g0200 others(3): Show |
7 | HG01243.hp2 HG02922.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.3446+432A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95453046 | |||||||
| chr9:95453113 | C | A | 1 | a0003c0005t0002g0066 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3446+365G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95453113 | |||||||
| chr9:95453114 | G | A | 1 | a0001c0003t0003g0142 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.3446+364C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95453114 | |||||||
| chr9:95453141 | T | A | 2 | a0001c0002t0011g0010 a0001c0002t0011g0162 |
3 | HG01243.hp1 HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.3446+337A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95453141 | |||||||
| chr9:95453244 | G | A | 1 | a0001c0008t0001g0239 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.3446+234C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95453244 | |||||||
| chr9:95453349 | T | C | 40 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(37): Show |
41 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(38): Show |
intron_variant | MODIFIER | c.3446+129A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | 95453349 | |||||||
| chr9:95453686 | C | G | 31 | a0003c0005t0001g0014 a0003c0005t0001g0115 a0003c0005t0001g0152 others(28): Show |
33 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(30): Show |
intron_variant | MODIFIER | c.3304-66G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95453686 | |||||||
| chr9:95453772 | C | A | 1 | a0002c0001t0001g0039 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.3304-152G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95453772 | |||||||
| chr9:95453772 | C | T | 6 | a0001c0002t0004g0199 a0001c0002t0006g0178 a0001c0002t0006g0181 others(3): Show |
6 | HG01952.hp1 HG02109.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.3304-152G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95453772 | |||||||
| chr9:95453991 | T | C | 6 | a0001c0002t0008g0012 a0001c0002t0008g0193 a0001c0002t0008g0200 others(3): Show |
7 | HG01243.hp2 HG02922.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.3304-371A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95453991 | |||||||
| chr9:95454363 | A | G | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.3304-743T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95454363 | |||||||
| chr9:95454594 | A | G | 151 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(148): Show |
159 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(156): Show |
intron_variant | MODIFIER | c.3304-974T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95454594 | |||||||
| chr9:95454804 | C | G | 1 | a0001c0002t0002g0192 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3304-1184G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95454804 | |||||||
| chr9:95455066 | A | G | 96 | a0001c0002t0002g0252 a0001c0002t0003g0226 a0001c0002t0004g0199 others(93): Show |
100 | HG00558.hp2 HG00597.hp1 HG00609.hp1 others(97): Show |
intron_variant | MODIFIER | c.3303+1210T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455066 | |||||||
| chr9:95455226 | C | T | 1 | a0001c0002t0001g0095 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3303+1050G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455226 | |||||||
| chr9:95455299 | T | C | 151 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(148): Show |
159 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(156): Show |
intron_variant | MODIFIER | c.3303+977A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455299 | |||||||
| chr9:95455328 | G | A | 2 | a0001c0002t0002g0064 a0001c0002t0002g0112 |
2 | HG01071.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.3303+948C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455328 | |||||||
| chr9:95455442 | C | G | 9 | a0001c0003t0004g0175 a0001c0003t0004g0176 a0001c0003t0004g0177 others(6): Show |
9 | HG02630.hp2 HG02895.hp1 HG02976.hp1 others(6): Show |
intron_variant | MODIFIER | c.3303+834G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455442 | |||||||
| chr9:95455462 | C | T | 2 | a0001c0002t0001g0204 a0001c0002t0001g0205 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.3303+814G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455462 | |||||||
| chr9:95455495 | T | C | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.3303+781A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455495 | |||||||
| chr9:95455507 | A | G | 3 | a0001c0003t0021g0027 a0001c0014t0002g0044 a0001c0014t0034g0068 |
3 | HG01081.hp2 HG02647.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.3303+769T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455507 | |||||||
| chr9:95455728 | T | G | 2 | a0001c0002t0014g0011 a0001c0003t0014g0187 |
3 | HG01069.hp1 HG01071.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.3303+548A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455728 | |||||||
| chr9:95455759 | C | T | 8 | a0001c0002t0004g0199 a0001c0002t0006g0178 a0001c0002t0006g0181 others(5): Show |
8 | HG01952.hp1 HG02109.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.3303+517G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455759 | |||||||
| chr9:95455760 | G | A | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.3303+516C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455760 | |||||||
| chr9:95455960 | G | A | 2 | a0002c0033t0001g0083 a0002c0034t0032g0093 |
2 | HG02717.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3303+316C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95455960 | |||||||
| chr9:95456030 | C | T | 1 | a0003c0005t0001g0214 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3303+246G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95456030 | |||||||
| chr9:95456160 | G | A | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.3303+116C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95456160 | |||||||
| chr9:95456192 | G | GC | 152 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(149): Show |
160 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(157): Show |
intron_variant | MODIFIER | c.3303+83dupG | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 19/23 | chr9 | 95456192 | |||||||
| chr9:95456418 | A | G | 1 | a0001c0002t0001g0095 | 1 | HG03491.hp2 | splice_region_variant&intron_variant | LOW | c.3166-5T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95456418 | |||||||
| chr9:95456710 | G | A | 1 | a0003c0005t0002g0216 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.3166-297C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95456710 | |||||||
| chr9:95456755 | C | T | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.3166-342G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95456755 | |||||||
| chr9:95456761 | T | TCA | 8 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(5): Show |
8 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(5): Show |
intron_variant | MODIFIER | c.3166-350_3166-349d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95456761 | |||||||
| chr9:95456984 | G | A | 1 | a0002c0019t0001g0059 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.3166-571C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95456984 | |||||||
| chr9:95457009 | C | T | 4 | a0001c0002t0002g0008 a0001c0002t0002g0030 a0001c0002t0002g0110 others(1): Show |
5 | HG01358.hp1 HG01934.hp2 HG02135.hp2 others(2): Show |
intron_variant | MODIFIER | c.3166-596G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95457009 | |||||||
| chr9:95457022 | C | G | 1 | a0001c0002t0006g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3166-609G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95457022 | |||||||
| chr9:95457565 | T | C | 4 | a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 others(1): Show |
4 | NA18939.hp1 NA18967.hp2 NA18969.hp1 others(1): Show |
intron_variant | MODIFIER | c.3165+448A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95457565 | |||||||
| chr9:95457667 | T | C | 1 | a0002c0001t0001g0111 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3165+346A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95457667 | |||||||
| chr9:95457755 | G | A | 4 | a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0015g0003 others(1): Show |
5 | HG01123.hp2 HG01516.hp1 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.3165+258C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95457755 | |||||||
| chr9:95457777 | G | C | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3165+236C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95457777 | |||||||
| chr9:95457780 | C | T | 1 | a0003c0005t0002g0184 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3165+233G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95457780 | |||||||
| chr9:95457793 | C | T | 1 | a0002c0001t0002g0087 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3165+220G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 18/23 | chr9 | 95457793 | |||||||
| chr9:95458432 | T | C | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2885-139A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95458432 | |||||||
| chr9:95458564 | C | T | 2 | a0001c0002t0001g0204 a0001c0002t0001g0205 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.2885-271G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95458564 | |||||||
| chr9:95458576 | AT | A | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2885-284delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95458576 | |||||||
| chr9:95458939 | C | T | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2885-646G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95458939 | |||||||
| chr9:95459017 | G | A | 1 | a0001c0002t0001g0075 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.2884+583C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95459017 | |||||||
| chr9:95459272 | C | T | 3 | a0003c0010t0010g0013 a0003c0010t0010g0114 a0004c0020t0010g0209 |
4 | HG00609.hp1 HG00673.hp2 HG02056.hp2 others(1): Show |
intron_variant | MODIFIER | c.2884+328G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95459272 | |||||||
| chr9:95459306 | C | T | 1 | a0001c0003t0009g0171 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2884+294G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95459306 | |||||||
| chr9:95459340 | G | A | 1 | a0001c0014t0034g0068 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2884+260C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95459340 | |||||||
| chr9:95459418 | G | A | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2884+182C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95459418 | |||||||
| chr9:95459512 | G | A | 1 | a0002c0001t0001g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2884+88C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95459512 | |||||||
| chr9:95459563 | T | C | 3 | a0001c0002t0011g0010 a0001c0002t0011g0162 a0001c0002t0011g0165 |
4 | HG01109.hp2 HG01243.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2884+37A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95459563 | |||||||
| chr9:95459579 | T | C | 151 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(148): Show |
159 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(156): Show |
intron_variant | MODIFIER | c.2884+21A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 17/23 | chr9 | 95459579 | |||||||
| chr9:95459891 | T | C | 2 | a0001c0002t0002g0092 a0001c0002t0002g0124 |
2 | HG02735.hp1 HG03491.hp1 |
intron_variant | MODIFIER | c.2701-108A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95459891 | |||||||
| chr9:95460072 | A | G | 1 | a0001c0002t0006g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2701-289T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460072 | |||||||
| chr9:95460145 | C | T | 4 | a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 others(1): Show |
4 | NA18939.hp1 NA18967.hp2 NA18969.hp1 others(1): Show |
intron_variant | MODIFIER | c.2701-362G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460145 | |||||||
| chr9:95460298 | G | A | 4 | a0001c0002t0007g0025 a0005c0009t0007g0016 a0005c0009t0007g0254 others(1): Show |
5 | HG02145.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.2701-515C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460298 | |||||||
| chr9:95460299 | T | G | 1 | a0002c0001t0002g0087 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2701-516A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460299 | |||||||
| chr9:95460349 | G | A | 1 | a0008c0024t0002g0167 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2701-566C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460349 | |||||||
| chr9:95460365 | C | T | 1 | a0001c0002t0001g0245 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2701-582G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460365 | |||||||
| chr9:95460369 | C | T | 33 | a0001c0021t0001g0218 a0003c0005t0001g0014 a0003c0005t0001g0115 others(30): Show |
35 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.2701-586G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460369 | |||||||
| chr9:95460371 | C | T | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2701-588G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460371 | |||||||
| chr9:95460383 | C | T | 38 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(35): Show |
41 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.2701-600G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460383 | |||||||
| chr9:95460404 | G | A | 3 | a0001c0002t0006g0181 a0001c0002t0006g0182 a0008c0024t0002g0167 |
3 | HG01952.hp1 HG02109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2701-621C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460404 | |||||||
| chr9:95460416 | T | C | 1 | a0001c0003t0003g0156 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2701-633A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460416 | |||||||
| chr9:95460467 | C | T | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2701-684G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460467 | |||||||
| chr9:95460505 | T | G | 1 | a0002c0001t0005g0080 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2701-722A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460505 | |||||||
| chr9:95460510 | A | G | 2 | a0001c0002t0006g0181 a0001c0002t0006g0182 |
2 | HG02109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2701-727T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460510 | |||||||
| chr9:95460527 | C | T | 1 | a0001c0003t0033g0026 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2701-744G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460527 | |||||||
| chr9:95460588 | G | C | 1 | a0001c0002t0003g0226 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2701-805C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460588 | |||||||
| chr9:95460646 | A | C | 1 | a0001c0004t0001g0229 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.2701-863T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460646 | |||||||
| chr9:95460751 | G | C | 1 | a0002c0034t0032g0093 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2701-968C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95460751 | |||||||
| chr9:95461155 | A | G | 6 | a0001c0002t0008g0012 a0001c0002t0008g0193 a0001c0002t0008g0200 others(3): Show |
7 | HG01243.hp2 HG02922.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.2700+701T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461155 | |||||||
| chr9:95461179 | T | C | 2 | a0011c0038t0020g0253 a0012c0025t0020g0183 |
2 | HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2700+677A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461179 | |||||||
| chr9:95461230 | A | T | 1 | a0001c0002t0011g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2700+626T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461230 | |||||||
| chr9:95461275 | C | T | 1 | a0002c0001t0001g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2700+581G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461275 | |||||||
| chr9:95461394 | C | T | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2700+462G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461394 | |||||||
| chr9:95461416 | C | T | 1 | a0002c0001t0002g0087 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2700+440G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461416 | |||||||
| chr9:95461455 | G | T | 3 | a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0033g0026 |
3 | HG02622.hp2 HG02965.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2700+401C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461455 | |||||||
| chr9:95461556 | A | G | 1 | a0014c0027t0001g0127 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.2700+300T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461556 | |||||||
| chr9:95461560 | T | C | 1 | a0001c0003t0003g0156 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2700+296A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461560 | |||||||
| chr9:95461574 | C | T | 11 | a0001c0003t0004g0173 a0001c0003t0004g0175 a0001c0003t0004g0176 others(8): Show |
11 | HG02145.hp2 HG02615.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.2700+282G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 16/23 | chr9 | 95461574 | |||||||
| chr9:95462061 | G | A | 1 | a0002c0001t0001g0098 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.2558-63C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462061 | |||||||
| chr9:95462078 | C | G | 151 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(148): Show |
159 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(156): Show |
intron_variant | MODIFIER | c.2558-80G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462078 | |||||||
| chr9:95462205 | G | C | 11 | a0001c0003t0004g0173 a0001c0003t0004g0175 a0001c0003t0004g0176 others(8): Show |
11 | HG02145.hp2 HG02615.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.2558-207C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462205 | |||||||
| chr9:95462345 | G | A | 10 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(7): Show |
11 | HG01069.hp1 HG01071.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.2558-347C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462345 | |||||||
| chr9:95462403 | A | G | 18 | a0001c0004t0001g0015 a0001c0004t0001g0222 a0001c0004t0001g0228 others(15): Show |
19 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(16): Show |
intron_variant | MODIFIER | c.2558-405T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462403 | |||||||
| chr9:95462429 | T | C | 1 | a0001c0002t0001g0023 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.2558-431A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462429 | |||||||
| chr9:95462499 | G | C | 1 | a0001c0002t0024g0197 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2558-501C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462499 | |||||||
| chr9:95462521 | A | T | 1 | a0001c0002t0001g0023 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.2558-523T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462521 | |||||||
| chr9:95462658 | G | A | 1 | a0002c0001t0025g0029 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.2558-660C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462658 | |||||||
| chr9:95462774 | G | T | 102 | a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 others(99): Show |
107 | HG00558.hp2 HG00597.hp1 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.2558-776C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462774 | |||||||
| chr9:95462832 | C | A | 1 | a0001c0002t0006g0181 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2558-834G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462832 | |||||||
| chr9:95462941 | G | A | 3 | a0001c0003t0021g0027 a0001c0014t0002g0044 a0001c0014t0034g0068 |
3 | HG01081.hp2 HG02647.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.2558-943C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462941 | |||||||
| chr9:95462964 | T | C | 1 | a0007c0015t0001g0131 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.2558-966A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462964 | |||||||
| chr9:95462966 | G | A | 1 | a0001c0003t0021g0028 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2558-968C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462966 | |||||||
| chr9:95462999 | C | A | 1 | a0001c0002t0006g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2558-1001G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95462999 | |||||||
| chr9:95463007 | C | T | 1 | a0001c0002t0006g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2558-1009G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463007 | |||||||
| chr9:95463110 | G | A | 1 | a0001c0003t0006g0186 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2558-1112C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463110 | |||||||
| chr9:95463125 | C | T | 3 | a0001c0002t0002g0194 a0001c0002t0024g0197 a0001c0023t0002g0196 |
3 | HG02451.hp1 HG02622.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.2558-1127G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463125 | |||||||
| chr9:95463139 | C | T | 1 | a0001c0002t0001g0099 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2558-1141G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463139 | |||||||
| chr9:95463170 | CA | C | 44 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(41): Show |
47 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.2558-1173delT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463170 | |||||||
| chr9:95463187 | C | T | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2558-1189G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463187 | |||||||
| chr9:95463260 | G | A | 12 | a0001c0003t0004g0173 a0001c0003t0004g0175 a0001c0003t0004g0176 others(9): Show |
12 | HG02109.hp2 HG02145.hp2 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.2558-1262C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463260 | |||||||
| chr9:95463332 | C | T | 1 | a0002c0001t0001g0107 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2558-1334G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463332 | |||||||
| chr9:95463376 | C | T | 44 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(41): Show |
47 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.2558-1378G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463376 | |||||||
| chr9:95463401 | C | T | 51 | a0001c0002t0002g0252 a0001c0002t0004g0199 a0001c0002t0006g0178 others(48): Show |
54 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.2558-1403G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463401 | |||||||
| chr9:95463425 | T | C | 1 | a0001c0008t0001g0240 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2558-1427A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463425 | |||||||
| chr9:95463538 | C | T | 2 | a0002c0033t0001g0083 a0002c0034t0032g0093 |
2 | HG02717.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2558-1540G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463538 | |||||||
| chr9:95463591 | T | A | 1 | a0001c0003t0033g0026 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2558-1593A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463591 | |||||||
| chr9:95463681 | T | C | 1 | a0002c0001t0001g0116 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.2558-1683A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463681 | |||||||
| chr9:95463784 | G | A | 50 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(47): Show |
51 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(48): Show |
intron_variant | MODIFIER | c.2558-1786C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463784 | |||||||
| chr9:95463885 | G | A | 2 | a0001c0002t0001g0204 a0001c0002t0001g0205 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.2558-1887C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463885 | |||||||
| chr9:95463963 | C | T | 1 | a0001c0023t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2558-1965G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463963 | |||||||
| chr9:95463969 | C | T | 2 | a0001c0002t0011g0010 a0001c0002t0011g0162 |
3 | HG01243.hp1 HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2558-1971G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463969 | |||||||
| chr9:95463985 | C | T | 7 | a0001c0002t0008g0012 a0001c0002t0008g0193 a0001c0002t0008g0200 others(4): Show |
9 | HG01069.hp1 HG01071.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2558-1987G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463985 | |||||||
| chr9:95463986 | G | A | 1 | a0002c0001t0001g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2558-1988C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95463986 | |||||||
| chr9:95464025 | C | T | 44 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(41): Show |
45 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(42): Show |
intron_variant | MODIFIER | c.2558-2027G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95464025 | |||||||
| chr9:95464113 | A | C | 50 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(47): Show |
51 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(48): Show |
intron_variant | MODIFIER | c.2558-2115T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95464113 | |||||||
| chr9:95464262 | A | G | 1 | a0001c0002t0001g0046 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2558-2264T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95464262 | |||||||
| chr9:95464420 | T | C | 50 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(47): Show |
51 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(48): Show |
intron_variant | MODIFIER | c.2558-2422A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95464420 | |||||||
| chr9:95464748 | T | C | 2 | a0001c0003t0021g0027 a0001c0029t0028g0189 |
2 | HG02572.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.2557+2368A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95464748 | |||||||
| chr9:95464876 | C | T | 2 | a0002c0001t0001g0094 a0002c0001t0001g0111 |
2 | HG01175.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2557+2240G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95464876 | |||||||
| chr9:95464951 | T | C | 26 | a0001c0021t0001g0218 a0003c0005t0001g0014 a0003c0005t0001g0115 others(23): Show |
28 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.2557+2165A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95464951 | |||||||
| chr9:95465003 | G | A | 1 | a0001c0002t0011g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2557+2113C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465003 | |||||||
| chr9:95465056 | G | A | 1 | a0001c0002t0011g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2557+2060C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465056 | |||||||
| chr9:95465133 | C | T | 50 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(47): Show |
51 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(48): Show |
intron_variant | MODIFIER | c.2557+1983G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465133 | |||||||
| chr9:95465451 | G | A | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2557+1665C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465451 | |||||||
| chr9:95465479 | C | T | 2 | a0001c0003t0021g0027 a0001c0029t0028g0189 |
2 | HG02572.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.2557+1637G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465479 | |||||||
| chr9:95465505 | A | G | 1 | a0001c0002t0002g0172 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2557+1611T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465505 | |||||||
| chr9:95465528 | G | T | 50 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(47): Show |
51 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(48): Show |
intron_variant | MODIFIER | c.2557+1588C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465528 | |||||||
| chr9:95465667 | G | A | 1 | a0001c0002t0001g0004 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.2557+1449C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465667 | |||||||
| chr9:95465719 | A | G | 1 | a0001c0003t0021g0028 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2557+1397T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465719 | |||||||
| chr9:95465897 | T | C | 1 | a0002c0001t0001g0118 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.2557+1219A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465897 | |||||||
| chr9:95465943 | C | T | 48 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(45): Show |
51 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.2557+1173G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95465943 | |||||||
| chr9:95466132 | C | A | 1 | a0001c0003t0021g0028 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2557+984G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95466132 | |||||||
| chr9:95466255 | C | A | 1 | a0001c0002t0006g0250 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2557+861G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95466255 | |||||||
| chr9:95466379 | T | G | 1 | a0001c0002t0001g0062 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2557+737A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95466379 | |||||||
| chr9:95466873 | C | T | 2 | a0003c0005t0004g0070 a0003c0005t0004g0072 |
2 | HG02647.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2557+243G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95466873 | |||||||
| chr9:95466982 | A | T | 2 | a0001c0002t0001g0062 a0015c0032t0002g0089 |
2 | HG01167.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2557+134T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95466982 | |||||||
| chr9:95467008 | C | T | 3 | a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0033g0026 |
3 | HG02622.hp2 HG02965.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2557+108G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95467008 | |||||||
| chr9:95467015 | G | A | 50 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(47): Show |
54 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(51): Show |
intron_variant | MODIFIER | c.2557+101C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95467015 | |||||||
| chr9:95467084 | C | T | 3 | a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0033g0026 |
3 | HG02622.hp2 HG02965.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2557+32G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95467084 | |||||||
| chr9:95467107 | C | G | 149 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(146): Show |
157 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.2557+9G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95467107 | |||||||
| chr9:95467109 | G | A | 2 | a0001c0004t0002g0241 a0001c0004t0002g0243 |
2 | NA18940.hp2 NA18969.hp2 |
splice_region_variant&intron_variant | LOW | c.2557+7C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 15/23 | chr9 | 95467109 | |||||||
| chr9:95467527 | T | G | 1 | a0001c0003t0033g0026 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2248-102A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95467527 | |||||||
| chr9:95467714 | G | A | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2248-289C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95467714 | |||||||
| chr9:95468078 | T | C | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2248-653A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468078 | |||||||
| chr9:95468210 | G | A | 1 | a0002c0001t0001g0122 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.2247+541C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468210 | |||||||
| chr9:95468263 | C | T | 28 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(25): Show |
29 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(26): Show |
intron_variant | MODIFIER | c.2247+488G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468263 | |||||||
| chr9:95468556 | C | T | 1 | a0002c0001t0001g0109 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2247+195G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468556 | |||||||
| chr9:95468613 | A | G | 1 | a0001c0003t0003g0147 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2247+138T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468613 | |||||||
| chr9:95468623 | T | C | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2247+128A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468623 | |||||||
| chr9:95468625 | T | C | 45 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(42): Show |
46 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(43): Show |
intron_variant | MODIFIER | c.2247+126A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468625 | |||||||
| chr9:95468632 | C | T | 1 | a0005c0009t0007g0016 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.2247+119G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468632 | |||||||
| chr9:95468638 | C | T | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2247+113G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468638 | |||||||
| chr9:95468642 | AT | A | 143 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(140): Show |
151 | HG00140.hp2 HG00558.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.2247+108delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468642 | |||||||
| chr9:95468642 | ATT | A | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2247+107_2247+108d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468642 | |||||||
| chr9:95468726 | A | G | 40 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(37): Show |
41 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(38): Show |
intron_variant | MODIFIER | c.2247+25T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 14/23 | chr9 | 95468726 | |||||||
| chr9:95469321 | ACCTGGTT others(5): Show |
A | 1 | a0002c0001t0001g0032 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1845-180_1845-169d others(14): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 13/23 | chr9 | 95469321 | |||||||
| chr9:95469347 | A | G | 1 | a0002c0001t0001g0042 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1845-194T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 13/23 | chr9 | 95469347 | |||||||
| chr9:95469553 | C | T | 1 | a0001c0002t0002g0198 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1844+260G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 13/23 | chr9 | 95469553 | |||||||
| chr9:95469626 | G | A | 50 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(47): Show |
54 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(51): Show |
intron_variant | MODIFIER | c.1844+187C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 13/23 | chr9 | 95469626 | |||||||
| chr9:95470257 | T | C | 1 | a0005c0009t0007g0016 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1726-326A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470257 | |||||||
| chr9:95470263 | T | G | 2 | a0001c0004t0001g0248 a0002c0012t0001g0232 |
2 | NA18943.hp1 NA18999.hp2 |
intron_variant | MODIFIER | c.1726-332A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470263 | |||||||
| chr9:95470322 | T | C | 1 | a0001c0002t0002g0194 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1726-391A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470322 | |||||||
| chr9:95470343 | T | A | 14 | a0001c0002t0002g0252 a0001c0002t0006g0178 a0001c0002t0006g0181 others(11): Show |
15 | HG01952.hp1 HG02109.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.1726-412A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470343 | |||||||
| chr9:95470410 | C | A | 3 | a0003c0005t0004g0070 a0003c0005t0004g0072 a0008c0024t0002g0167 |
3 | HG01952.hp1 HG02647.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1726-479G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470410 | |||||||
| chr9:95470472 | A | G | 51 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(48): Show |
52 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(49): Show |
intron_variant | MODIFIER | c.1726-541T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470472 | |||||||
| chr9:95470528 | A | G | 1 | a0002c0001t0025g0029 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1726-597T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470528 | |||||||
| chr9:95470533 | G | A | 2 | a0001c0002t0011g0010 a0001c0002t0011g0162 |
3 | HG01243.hp1 HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1726-602C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470533 | |||||||
| chr9:95470791 | G | A | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1726-860C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470791 | |||||||
| chr9:95470812 | C | T | 1 | a0001c0002t0024g0197 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1726-881G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470812 | |||||||
| chr9:95470908 | C | T | 1 | a0001c0002t0008g0012 | 2 | HG02922.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1726-977G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470908 | |||||||
| chr9:95470916 | C | A | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1726-985G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470916 | |||||||
| chr9:95470927 | C | A | 1 | a0001c0002t0001g0023 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1726-996G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95470927 | |||||||
| chr9:95471036 | T | C | 4 | a0001c0002t0007g0025 a0005c0009t0007g0016 a0005c0009t0007g0254 others(1): Show |
5 | HG02145.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1726-1105A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471036 | |||||||
| chr9:95471082 | C | CA | 47 | a0001c0002t0002g0252 a0001c0002t0004g0199 a0001c0002t0006g0178 others(44): Show |
50 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.1726-1152dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471082 | |||||||
| chr9:95471082 | CAAAAAAA others(5): Show |
C | 45 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(42): Show |
46 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(43): Show |
intron_variant | MODIFIER | c.1726-1163_1726-115 others(16): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471082 | |||||||
| chr9:95471154 | A | T | 1 | a0002c0001t0001g0090 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1726-1223T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471154 | |||||||
| chr9:95471227 | G | A | 12 | a0001c0003t0004g0173 a0001c0003t0004g0175 a0001c0003t0004g0176 others(9): Show |
12 | HG02109.hp2 HG02145.hp2 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.1726-1296C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471227 | |||||||
| chr9:95471242 | G | A | 1 | a0001c0003t0009g0171 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1726-1311C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471242 | |||||||
| chr9:95471815 | A | G | 149 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(146): Show |
157 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.1726-1884T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471815 | |||||||
| chr9:95471836 | C | T | 1 | a0002c0001t0001g0122 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1726-1905G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471836 | |||||||
| chr9:95471855 | A | G | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1726-1924T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471855 | |||||||
| chr9:95471998 | T | C | 1 | a0002c0001t0001g0103 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1726-2067A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95471998 | |||||||
| chr9:95472101 | AAC | A | 12 | a0001c0003t0004g0173 a0001c0003t0004g0175 a0001c0003t0004g0176 others(9): Show |
12 | HG02109.hp2 HG02145.hp2 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.1726-2172_1726-217 others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472101 | |||||||
| chr9:95472105 | C | CA | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1726-2175dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472105 | |||||||
| chr9:95472105 | CAG | C | 48 | a0001c0002t0002g0252 a0001c0002t0004g0199 a0001c0002t0006g0178 others(45): Show |
51 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.1726-2176_1726-217 others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472105 | |||||||
| chr9:95472281 | C | T | 48 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(45): Show |
51 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.1726-2350G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472281 | |||||||
| chr9:95472310 | G | C | 3 | a0001c0002t0004g0199 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1726-2379C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472310 | |||||||
| chr9:95472368 | GT | G | 50 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(47): Show |
54 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(51): Show |
intron_variant | MODIFIER | c.1726-2438delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472368 | |||||||
| chr9:95472503 | C | T | 2 | a0001c0003t0001g0168 a0001c0003t0001g0169 |
2 | HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1726-2572G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472503 | |||||||
| chr9:95472621 | C | T | 48 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(45): Show |
51 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.1726-2690G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472621 | |||||||
| chr9:95472663 | C | T | 1 | a0001c0003t0021g0027 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1726-2732G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472663 | |||||||
| chr9:95472669 | C | A | 3 | a0001c0002t0004g0199 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1726-2738G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472669 | |||||||
| chr9:95472829 | C | T | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1726-2898G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472829 | |||||||
| chr9:95472966 | T | C | 4 | a0001c0002t0007g0025 a0005c0009t0007g0016 a0005c0009t0007g0254 others(1): Show |
5 | HG02145.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1726-3035A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95472966 | |||||||
| chr9:95473028 | T | C | 51 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(48): Show |
52 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(49): Show |
intron_variant | MODIFIER | c.1725+3006A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473028 | |||||||
| chr9:95473218 | T | A | 1 | a0001c0002t0006g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1725+2816A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473218 | |||||||
| chr9:95473447 | G | A | 3 | a0003c0005t0002g0065 a0003c0005t0002g0066 a0003c0005t0002g0067 |
3 | HG03195.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1725+2587C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473447 | |||||||
| chr9:95473542 | A | AT | 11 | a0001c0002t0001g0132 a0001c0002t0011g0010 a0001c0002t0011g0162 others(8): Show |
12 | HG01106.hp1 HG01175.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1725+2491dupA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473542 | |||||||
| chr9:95473542 | AT | A | 90 | a0001c0002t0001g0130 a0001c0002t0001g0204 a0001c0002t0001g0205 others(87): Show |
94 | HG00140.hp2 HG00597.hp1 HG00609.hp2 others(91): Show |
intron_variant | MODIFIER | c.1725+2491delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473542 | |||||||
| chr9:95473542 | ATT | A | 8 | a0001c0004t0001g0233 a0001c0007t0012g0018 a0001c0007t0013g0017 others(5): Show |
8 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(5): Show |
intron_variant | MODIFIER | c.1725+2490_1725+249 others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473542 | |||||||
| chr9:95473577 | T | C | 51 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(48): Show |
52 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(49): Show |
intron_variant | MODIFIER | c.1725+2457A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473577 | |||||||
| chr9:95473596 | G | C | 3 | a0001c0002t0004g0199 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1725+2438C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473596 | |||||||
| chr9:95473603 | A | G | 51 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(48): Show |
52 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(49): Show |
intron_variant | MODIFIER | c.1725+2431T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473603 | |||||||
| chr9:95473637 | C | T | 2 | a0001c0002t0001g0204 a0001c0002t0001g0205 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.1725+2397G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473637 | |||||||
| chr9:95473821 | C | T | 2 | a0001c0003t0003g0073 a0001c0003t0027g0244 |
2 | HG04184.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.1725+2213G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473821 | |||||||
| chr9:95473873 | G | C | 3 | a0003c0011t0002g0161 a0003c0011t0002g0163 a0003c0011t0002g0164 |
3 | NA18747.hp2 NA18970.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.1725+2161C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473873 | |||||||
| chr9:95473879 | T | C | 1 | a0001c0014t0002g0044 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1725+2155A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473879 | |||||||
| chr9:95473920 | A | G | 40 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(37): Show |
41 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(38): Show |
intron_variant | MODIFIER | c.1725+2114T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95473920 | |||||||
| chr9:95474027 | C | T | 3 | a0001c0002t0008g0012 a0001c0002t0008g0202 a0001c0002t0008g0203 |
4 | HG02922.hp1 HG03098.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1725+2007G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95474027 | |||||||
| chr9:95474115 | A | G | 2 | a0001c0002t0011g0010 a0001c0002t0011g0162 |
3 | HG01243.hp1 HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1725+1919T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95474115 | |||||||
| chr9:95474204 | C | A | 1 | a0001c0004t0003g0246 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.1725+1830G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95474204 | |||||||
| chr9:95474382 | C | T | 28 | a0001c0002t0003g0226 a0001c0003t0001g0009 a0001c0003t0001g0137 others(25): Show |
29 | HG00597.hp1 HG00738.hp2 HG01074.hp2 others(26): Show |
intron_variant | MODIFIER | c.1725+1652G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95474382 | |||||||
| chr9:95474583 | C | T | 44 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(41): Show |
45 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(42): Show |
intron_variant | MODIFIER | c.1725+1451G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95474583 | |||||||
| chr9:95474760 | A | G | 1 | a0001c0002t0014g0011 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1725+1274T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95474760 | |||||||
| chr9:95474818 | A | G | 1 | a0002c0001t0001g0006 | 2 | HG01099.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.1725+1216T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95474818 | |||||||
| chr9:95474883 | G | A | 14 | a0001c0002t0002g0252 a0001c0002t0006g0178 a0001c0002t0006g0181 others(11): Show |
15 | HG01952.hp1 HG02109.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.1725+1151C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95474883 | |||||||
| chr9:95475038 | T | C | 5 | a0001c0002t0008g0012 a0001c0002t0008g0200 a0001c0002t0008g0201 others(2): Show |
6 | HG01243.hp2 HG02922.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.1725+996A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475038 | |||||||
| chr9:95475169 | C | T | 1 | a0002c0001t0001g0129 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1725+865G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475169 | |||||||
| chr9:95475171 | T | C | 2 | a0001c0003t0002g0054 a0001c0003t0003g0154 |
2 | NA20752.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.1725+863A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475171 | |||||||
| chr9:95475280 | C | T | 1 | a0002c0001t0003g0128 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1725+754G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475280 | |||||||
| chr9:95475514 | A | G | 140 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(137): Show |
148 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(145): Show |
intron_variant | MODIFIER | c.1725+520T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475514 | |||||||
| chr9:95475701 | A | G | 1 | a0002c0001t0005g0061 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1725+333T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475701 | |||||||
| chr9:95475737 | T | G | 1 | a0001c0002t0014g0011 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1725+297A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475737 | |||||||
| chr9:95475770 | T | C | 2 | a0001c0002t0011g0010 a0001c0002t0011g0162 |
3 | HG01243.hp1 HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1725+264A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475770 | |||||||
| chr9:95475995 | C | T | 1 | a0002c0001t0001g0109 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1725+39G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 12/23 | chr9 | 95475995 | |||||||
| chr9:95476217 | C | G | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1600-58G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 11/23 | chr9 | 95476217 | |||||||
| chr9:95476219 | G | C | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1600-60C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 11/23 | chr9 | 95476219 | |||||||
| chr9:95476566 | T | C | 1 | a0001c0002t0006g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1599+193A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 11/23 | chr9 | 95476566 | |||||||
| chr9:95476578 | T | C | 26 | a0001c0021t0001g0218 a0003c0005t0001g0014 a0003c0005t0001g0115 others(23): Show |
28 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.1599+181A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 11/23 | chr9 | 95476578 | |||||||
| chr9:95476631 | G | A | 1 | a0010c0031t0004g0104 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1599+128C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 11/23 | chr9 | 95476631 | |||||||
| chr9:95476684 | A | G | 1 | a0001c0002t0001g0023 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1599+75T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 11/23 | chr9 | 95476684 | |||||||
| chr9:95476865 | A | G | 48 | a0001c0002t0002g0252 a0001c0002t0004g0199 a0001c0002t0006g0178 others(45): Show |
51 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
splice_region_variant&intron_variant | LOW | c.1501-8T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 10/23 | chr9 | 95476865 | |||||||
| chr9:95476908 | G | C | 28 | a0001c0002t0001g0023 a0001c0002t0001g0095 a0001c0002t0001g0105 others(25): Show |
28 | HG00140.hp1 HG00408.hp1 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.1501-51C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 10/23 | chr9 | 95476908 | |||||||
| chr9:95477144 | C | T | 1 | a0002c0012t0001g0224 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1501-287G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 10/23 | chr9 | 95477144 | |||||||
| chr9:95477151 | A | C | 1 | a0001c0003t0021g0027 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1501-294T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 10/23 | chr9 | 95477151 | |||||||
| chr9:95477221 | G | A | 44 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(41): Show |
45 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(42): Show |
intron_variant | MODIFIER | c.1500+326C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 10/23 | chr9 | 95477221 | |||||||
| chr9:95477448 | G | A | 39 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(36): Show |
40 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(37): Show |
intron_variant | MODIFIER | c.1500+99C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 10/23 | chr9 | 95477448 | |||||||
| chr9:95477752 | T | G | 3 | a0001c0002t0004g0199 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1345-50A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 9/23 | chr9 | 95477752 | |||||||
| chr9:95477828 | T | C | 1 | a0002c0018t0005g0036 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1345-126A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 9/23 | chr9 | 95477828 | |||||||
| chr9:95477838 | G | A | 149 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(146): Show |
157 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.1345-136C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 9/23 | chr9 | 95477838 | |||||||
| chr9:95478387 | G | A | 3 | a0001c0003t0006g0186 a0001c0003t0006g0188 a0001c0003t0014g0187 |
3 | HG02109.hp2 HG02976.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1213-201C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478387 | |||||||
| chr9:95478398 | G | T | 3 | a0003c0005t0001g0214 a0006c0016t0001g0071 a0006c0022t0004g0215 |
3 | HG00558.hp2 HG02129.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.1213-212C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478398 | |||||||
| chr9:95478431 | G | C | 1 | a0001c0007t0013g0021 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.1213-245C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478431 | |||||||
| chr9:95478551 | T | A | 1 | a0001c0002t0001g0075 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.1213-365A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478551 | |||||||
| chr9:95478654 | C | A | 1 | a0003c0011t0002g0163 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.1212+346G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478654 | |||||||
| chr9:95478788 | T | C | 1 | a0008c0024t0002g0167 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1212+212A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478788 | |||||||
| chr9:95478857 | G | A | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1212+143C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478857 | |||||||
| chr9:95478960 | T | C | 1 | a0001c0003t0021g0027 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1212+40A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478960 | |||||||
| chr9:95478967 | C | T | 2 | a0002c0001t0001g0097 a0002c0001t0001g0098 |
2 | NA18946.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.1212+33G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 8/23 | chr9 | 95478967 | |||||||
| chr9:95479317 | T | C | 1 | a0001c0002t0001g0205 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1065-170A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 7/23 | chr9 | 95479317 | |||||||
| chr9:95479322 | G | A | 1 | a0001c0003t0021g0027 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1065-175C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 7/23 | chr9 | 95479322 | |||||||
| chr9:95479670 | G | A | 1 | a0008c0024t0002g0167 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1064+299C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 7/23 | chr9 | 95479670 | |||||||
| chr9:95479817 | A | G | 1 | a0001c0003t0021g0028 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1064+152T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 7/23 | chr9 | 95479817 | |||||||
| chr9:95479830 | A | G | 49 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(46): Show |
52 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.1064+139T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 7/23 | chr9 | 95479830 | |||||||
| chr9:95479895 | T | C | 14 | a0001c0002t0002g0252 a0001c0002t0006g0178 a0001c0002t0006g0181 others(11): Show |
15 | HG01952.hp1 HG02109.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.1064+74A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 7/23 | chr9 | 95479895 | |||||||
| chr9:95480193 | T | G | 1 | a0001c0002t0002g0194 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.943-103A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 6/23 | chr9 | 95480193 | |||||||
| chr9:95480265 | C | G | 1 | a0001c0002t0006g0250 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.942+125G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 6/23 | chr9 | 95480265 | |||||||
| chr9:95480315 | A | G | 1 | a0015c0032t0002g0089 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.942+75T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 6/23 | chr9 | 95480315 | |||||||
| chr9:95480643 | A | G | 49 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(46): Show |
52 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.744-55T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95480643 | |||||||
| chr9:95480702 | G | A | 150 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(147): Show |
158 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(155): Show |
intron_variant | MODIFIER | c.744-114C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95480702 | |||||||
| chr9:95480792 | C | T | 1 | a0003c0005t0002g0216 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.744-204G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95480792 | |||||||
| chr9:95480875 | A | G | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.744-287T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95480875 | |||||||
| chr9:95480905 | A | C | 49 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(46): Show |
50 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(47): Show |
intron_variant | MODIFIER | c.744-317T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95480905 | |||||||
| chr9:95480907 | A | AT | 48 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(45): Show |
52 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.744-320dupA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95480907 | |||||||
| chr9:95480907 | AT | A | 74 | a0001c0002t0001g0023 a0001c0002t0001g0046 a0001c0002t0001g0063 others(71): Show |
87 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(84): Show |
intron_variant | MODIFIER | c.744-320delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95480907 | |||||||
| chr9:95480921 | A | T | 1 | a0001c0002t0001g0004 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.744-333T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95480921 | |||||||
| chr9:95481103 | A | G | 49 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(46): Show |
50 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(47): Show |
intron_variant | MODIFIER | c.744-515T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95481103 | |||||||
| chr9:95481143 | G | A | 1 | a0001c0003t0021g0027 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.744-555C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95481143 | |||||||
| chr9:95481259 | T | C | 1 | a0001c0003t0003g0151 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.744-671A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95481259 | |||||||
| chr9:95481465 | G | C | 3 | a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0036g0256 |
3 | NA18991.hp2 NA19007.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.743+484C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95481465 | |||||||
| chr9:95481586 | C | T | 27 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(24): Show |
28 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(25): Show |
intron_variant | MODIFIER | c.743+363G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95481586 | |||||||
| chr9:95481638 | G | A | 1 | a0001c0003t0006g0186 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.743+311C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 5/23 | chr9 | 95481638 | |||||||
| chr9:95482266 | G | A | 2 | a0001c0002t0006g0181 a0001c0002t0006g0182 |
2 | HG02109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.582-63C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482266 | |||||||
| chr9:95482301 | G | T | 1 | a0001c0002t0002g0192 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.582-98C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482301 | |||||||
| chr9:95482326 | C | T | 1 | a0002c0001t0001g0088 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.582-123G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482326 | |||||||
| chr9:95482329 | G | A | 1 | a0002c0001t0030g0077 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.582-126C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482329 | |||||||
| chr9:95482338 | T | C | 3 | a0001c0007t0013g0017 a0001c0007t0013g0020 a0001c0007t0013g0021 |
3 | HG00423.hp2 NA18965.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.582-135A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482338 | |||||||
| chr9:95482537 | G | A | 2 | a0001c0002t0001g0204 a0001c0002t0001g0205 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.582-334C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482537 | |||||||
| chr9:95482675 | C | G | 1 | a0002c0001t0001g0041 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.582-472G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482675 | |||||||
| chr9:95482696 | C | T | 49 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(46): Show |
50 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(47): Show |
intron_variant | MODIFIER | c.582-493G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482696 | |||||||
| chr9:95482726 | A | G | 1 | a0002c0001t0002g0087 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.582-523T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482726 | |||||||
| chr9:95482744 | A | G | 27 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(24): Show |
28 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(25): Show |
intron_variant | MODIFIER | c.582-541T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95482744 | |||||||
| chr9:95483093 | A | G | 1 | a0001c0002t0011g0162 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.582-890T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483093 | |||||||
| chr9:95483109 | G | GA | 49 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(46): Show |
50 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(47): Show |
intron_variant | MODIFIER | c.582-907dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483109 | |||||||
| chr9:95483264 | C | CA | 7 | a0001c0002t0002g0195 a0001c0002t0008g0012 a0001c0002t0008g0193 others(4): Show |
8 | HG01243.hp2 HG02922.hp1 HG03098.hp2 others(5): Show |
intron_variant | MODIFIER | c.582-1062dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483264 | |||||||
| chr9:95483264 | CAA | C | 43 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(40): Show |
44 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(41): Show |
intron_variant | MODIFIER | c.582-1063_582-1062d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483264 | |||||||
| chr9:95483373 | A | G | 1 | a0001c0003t0003g0147 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.582-1170T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483373 | |||||||
| chr9:95483410 | GA | G | 20 | a0001c0002t0006g0178 a0001c0002t0006g0181 a0001c0002t0006g0182 others(17): Show |
22 | HG00738.hp2 HG01243.hp1 HG01952.hp1 others(19): Show |
intron_variant | MODIFIER | c.582-1208delT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483410 | |||||||
| chr9:95483425 | A | AG | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.582-1223_582-1222i others(3): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483425 | |||||||
| chr9:95483434 | A | G | 13 | a0001c0003t0004g0173 a0001c0003t0004g0175 a0001c0003t0004g0176 others(10): Show |
13 | HG02109.hp2 HG02145.hp2 HG02615.hp1 others(10): Show |
intron_variant | MODIFIER | c.582-1231T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483434 | |||||||
| chr9:95483573 | T | C | 51 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(48): Show |
55 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.582-1370A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483573 | |||||||
| chr9:95483607 | C | T | 1 | a0003c0005t0002g0066 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.582-1404G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483607 | |||||||
| chr9:95483692 | A | G | 51 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(48): Show |
55 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.582-1489T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483692 | |||||||
| chr9:95483697 | T | C | 1 | a0001c0002t0006g0178 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.582-1494A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483697 | |||||||
| chr9:95483748 | C | T | 1 | a0001c0003t0003g0151 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.582-1545G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483748 | |||||||
| chr9:95483772 | T | G | 22 | a0001c0021t0001g0218 a0003c0005t0001g0014 a0003c0005t0001g0115 others(19): Show |
24 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(21): Show |
intron_variant | MODIFIER | c.582-1569A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483772 | |||||||
| chr9:95483862 | T | C | 2 | a0002c0001t0001g0126 a0002c0001t0017g0007 |
3 | HG02071.hp1 NA18956.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.582-1659A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95483862 | |||||||
| chr9:95484110 | C | T | 2 | a0001c0002t0001g0105 a0013c0026t0001g0076 |
2 | HG02738.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.581+1575G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95484110 | |||||||
| chr9:95484121 | A | G | 1 | a0001c0003t0021g0028 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.581+1564T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95484121 | |||||||
| chr9:95484236 | T | C | 2 | a0001c0002t0011g0165 a0001c0003t0021g0027 |
2 | HG01109.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.581+1449A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95484236 | |||||||
| chr9:95484472 | C | A | 2 | a0001c0002t0001g0105 a0013c0026t0001g0076 |
2 | HG02738.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.581+1213G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95484472 | |||||||
| chr9:95484544 | C | T | 1 | a0001c0003t0004g0175 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.581+1141G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95484544 | |||||||
| chr9:95484615 | G | C | 1 | a0004c0006t0004g0135 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.581+1070C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95484615 | |||||||
| chr9:95484922 | C | T | 40 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(37): Show |
41 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(38): Show |
intron_variant | MODIFIER | c.581+763G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95484922 | |||||||
| chr9:95484943 | C | T | 3 | a0001c0002t0004g0199 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.581+742G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95484943 | |||||||
| chr9:95485004 | G | A | 1 | a0002c0012t0001g0249 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.581+681C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95485004 | |||||||
| chr9:95485148 | G | C | 1 | a0002c0001t0001g0052 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.581+537C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95485148 | |||||||
| chr9:95485261 | C | T | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.581+424G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95485261 | |||||||
| chr9:95485508 | C | T | 40 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(37): Show |
41 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(38): Show |
intron_variant | MODIFIER | c.581+177G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 3/23 | chr9 | 95485508 | |||||||
| chr9:95486046 | A | G | 40 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(37): Show |
41 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(38): Show |
intron_variant | MODIFIER | c.392-172T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95486046 | |||||||
| chr9:95486105 | A | G | 49 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(46): Show |
50 | HG00423.hp2 HG00597.hp1 HG00738.hp2 others(47): Show |
intron_variant | MODIFIER | c.392-231T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95486105 | |||||||
| chr9:95486149 | G | GA | 43 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(40): Show |
44 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(41): Show |
intron_variant | MODIFIER | c.392-276_392-275ins others(1): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95486149 | |||||||
| chr9:95486353 | C | A | 149 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(146): Show |
157 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.392-479G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95486353 | |||||||
| chr9:95486514 | C | A | 1 | a0001c0003t0006g0186 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.392-640G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95486514 | |||||||
| chr9:95486570 | G | A | 1 | a0001c0004t0003g0246 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.392-696C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95486570 | |||||||
| chr9:95487173 | A | G | 1 | a0001c0003t0009g0170 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.392-1299T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487173 | |||||||
| chr9:95487218 | G | A | 1 | a0002c0012t0001g0249 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.392-1344C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487218 | |||||||
| chr9:95487267 | T | C | 1 | a0001c0002t0001g0023 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.392-1393A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487267 | |||||||
| chr9:95487316 | T | C | 1 | a0002c0001t0001g0106 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.392-1442A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487316 | |||||||
| chr9:95487377 | A | G | 1 | a0002c0017t0003g0155 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.392-1503T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487377 | |||||||
| chr9:95487681 | C | T | 34 | a0001c0002t0003g0226 a0001c0002t0035g0221 a0001c0004t0001g0015 others(31): Show |
35 | HG00140.hp2 HG00609.hp2 HG01074.hp2 others(32): Show |
intron_variant | MODIFIER | c.392-1807G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487681 | |||||||
| chr9:95487824 | A | G | 1 | a0001c0003t0009g0171 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.392-1950T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487824 | |||||||
| chr9:95487904 | T | C | 2 | a0001c0003t0001g0168 a0001c0003t0001g0169 |
2 | HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.392-2030A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487904 | |||||||
| chr9:95487931 | A | C | 15 | a0001c0002t0002g0252 a0001c0002t0006g0178 a0001c0002t0006g0181 others(12): Show |
16 | HG01109.hp2 HG01952.hp1 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.392-2057T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95487931 | |||||||
| chr9:95488105 | A | G | 2 | a0001c0002t0006g0185 a0001c0029t0028g0189 |
2 | HG01081.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.392-2231T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95488105 | |||||||
| chr9:95488293 | C | G | 2 | a0001c0002t0006g0181 a0001c0002t0006g0182 |
2 | HG02109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.392-2419G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95488293 | |||||||
| chr9:95488392 | T | C | 27 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(24): Show |
28 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(25): Show |
intron_variant | MODIFIER | c.392-2518A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95488392 | |||||||
| chr9:95488415 | A | G | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.392-2541T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95488415 | |||||||
| chr9:95488669 | A | G | 2 | a0001c0002t0006g0185 a0001c0029t0028g0189 |
2 | HG01081.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.392-2795T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95488669 | |||||||
| chr9:95488674 | A | G | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.392-2800T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95488674 | |||||||
| chr9:95488902 | A | G | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.392-3028T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95488902 | |||||||
| chr9:95489097 | A | G | 15 | a0001c0002t0002g0252 a0001c0002t0006g0178 a0001c0002t0006g0181 others(12): Show |
16 | HG01109.hp2 HG01952.hp1 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.392-3223T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489097 | |||||||
| chr9:95489230 | T | C | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.392-3356A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489230 | |||||||
| chr9:95489340 | GT | G | 3 | a0003c0011t0002g0161 a0003c0011t0002g0163 a0003c0011t0002g0164 |
3 | NA18747.hp2 NA18970.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.392-3467delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489340 | |||||||
| chr9:95489357 | C | T | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.392-3483G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489357 | |||||||
| chr9:95489381 | C | T | 1 | a0001c0002t0001g0245 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.392-3507G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489381 | |||||||
| chr9:95489426 | G | A | 2 | a0001c0003t0001g0168 a0001c0003t0001g0169 |
2 | HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.392-3552C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489426 | |||||||
| chr9:95489539 | C | T | 3 | a0001c0002t0004g0199 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.392-3665G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489539 | |||||||
| chr9:95489602 | T | G | 1 | a0006c0022t0004g0215 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.392-3728A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489602 | |||||||
| chr9:95489692 | C | T | 2 | a0001c0003t0001g0168 a0001c0003t0001g0169 |
2 | HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.392-3818G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489692 | |||||||
| chr9:95489796 | T | C | 1 | a0002c0001t0001g0048 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.392-3922A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489796 | |||||||
| chr9:95489802 | A | AT | 21 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(18): Show |
23 | HG01069.hp1 HG01071.hp2 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.392-3929dupA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489802 | |||||||
| chr9:95489917 | A | C | 1 | a0001c0002t0001g0046 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.392-4043T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489917 | |||||||
| chr9:95489967 | A | AT | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.392-4094dupA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95489967 | |||||||
| chr9:95490031 | T | C | 53 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(50): Show |
57 | HG00140.hp2 HG00609.hp2 HG01069.hp1 others(54): Show |
intron_variant | MODIFIER | c.392-4157A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490031 | |||||||
| chr9:95490036 | T | C | 3 | a0001c0003t0006g0186 a0001c0003t0006g0188 a0001c0003t0014g0187 |
3 | HG02109.hp2 HG02976.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.392-4162A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490036 | |||||||
| chr9:95490044 | C | T | 1 | a0001c0003t0021g0027 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.392-4170G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490044 | |||||||
| chr9:95490270 | C | T | 1 | a0013c0026t0001g0076 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.392-4396G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490270 | |||||||
| chr9:95490519 | T | TCACA | 10 | a0001c0002t0019g0024 a0001c0003t0021g0027 a0003c0005t0001g0152 others(7): Show |
11 | HG00609.hp1 HG02056.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.392-4646_392-4645i others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490519 | |||||||
| chr9:95490519 | T | TCACACA | 15 | a0001c0002t0006g0250 a0001c0029t0028g0189 a0003c0005t0001g0014 others(12): Show |
17 | HG00558.hp2 HG00673.hp2 HG02015.hp1 others(14): Show |
intron_variant | MODIFIER | c.392-4646_392-4645i others(8): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490519 | |||||||
| chr9:95490519 | T | TCACACAC others(1): Show |
10 | a0001c0002t0002g0252 a0001c0002t0006g0178 a0001c0002t0006g0182 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.392-4646_392-4645i others(10): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490519 | |||||||
| chr9:95490519 | T | TCACACAC others(3): Show |
4 | a0001c0002t0004g0199 a0001c0002t0006g0181 a0003c0005t0004g0206 others(1): Show |
4 | HG03098.hp1 NA18979.hp1 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.392-4646_392-4645i others(12): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490519 | |||||||
| chr9:95490519 | T | TCACACAC others(5): Show |
4 | a0001c0002t0006g0185 a0003c0005t0004g0070 a0003c0005t0004g0072 others(1): Show |
4 | HG01081.hp1 HG01952.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.392-4646_392-4645i others(14): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490519 | |||||||
| chr9:95490519 | T | TCACACAC others(7): Show |
1 | a0001c0013t0007g0191 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.392-4646_392-4645i others(16): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490519 | |||||||
| chr9:95490520 | G | C | 47 | a0001c0002t0002g0252 a0001c0002t0004g0199 a0001c0002t0006g0178 others(44): Show |
50 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.392-4646C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | G | GAC | 19 | a0001c0002t0002g0030 a0001c0002t0002g0074 a0001c0003t0001g0009 others(16): Show |
20 | HG02135.hp2 HG02559.hp1 HG02630.hp2 others(17): Show |
intron_variant | MODIFIER | c.392-4648_392-4647d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | G | GACAC | 14 | a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0002g0054 others(11): Show |
14 | HG00597.hp1 HG02109.hp2 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.392-4650_392-4647d others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | G | GACACAC | 9 | a0001c0003t0003g0073 a0001c0003t0003g0138 a0001c0003t0003g0139 others(6): Show |
9 | HG01167.hp1 HG02027.hp1 HG03453.hp1 others(6): Show |
intron_variant | MODIFIER | c.392-4652_392-4647d others(8): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | G | GACACACA others(1): Show |
5 | a0001c0003t0001g0137 a0001c0003t0003g0141 a0001c0003t0003g0156 others(2): Show |
5 | HG00738.hp2 HG01255.hp2 HG01517.hp1 others(2): Show |
intron_variant | MODIFIER | c.392-4654_392-4647d others(10): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | G | GACACACA others(3): Show |
5 | a0001c0003t0003g0149 a0001c0003t0003g0157 a0001c0003t0003g0158 others(2): Show |
5 | HG01099.hp1 HG01192.hp2 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.392-4656_392-4647d others(12): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | GAC | G | 44 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(41): Show |
47 | HG00140.hp2 HG00558.hp1 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.392-4648_392-4647d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | GACAC | G | 3 | a0001c0002t0001g0004 a0001c0002t0011g0010 a0002c0001t0001g0082 |
5 | HG00639.hp1 HG01109.hp1 HG01243.hp1 others(2): Show |
intron_variant | MODIFIER | c.392-4650_392-4647d others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | GACACAC | G | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.392-4652_392-4647d others(8): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490520 | GACACACA others(5): Show |
G | 6 | a0001c0002t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 others(3): Show |
7 | HG01106.hp2 HG01123.hp2 HG01516.hp1 others(4): Show |
intron_variant | MODIFIER | c.392-4658_392-4647d others(14): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490520 | |||||||
| chr9:95490529 | A | ACC | 8 | a0002c0001t0004g0078 a0002c0001t0005g0005 a0002c0001t0005g0061 others(5): Show |
9 | HG02257.hp2 HG02630.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.392-4656_392-4655i others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490529 | |||||||
| chr9:95490558 | A | C | 3 | a0001c0021t0001g0218 a0011c0038t0020g0253 a0012c0025t0020g0183 |
3 | HG02683.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.392-4684T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490558 | |||||||
| chr9:95490565 | G | A | 150 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(147): Show |
158 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(155): Show |
intron_variant | MODIFIER | c.392-4691C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490565 | |||||||
| chr9:95490617 | C | CA | 7 | a0001c0002t0002g0008 a0001c0002t0002g0030 a0001c0002t0002g0110 others(4): Show |
8 | HG01358.hp1 HG01934.hp1 HG01934.hp2 others(5): Show |
intron_variant | MODIFIER | c.392-4744dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490617 | |||||||
| chr9:95490668 | A | G | 53 | a0001c0002t0002g0252 a0001c0002t0004g0199 a0001c0002t0006g0178 others(50): Show |
56 | HG00423.hp2 HG00558.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.392-4794T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490668 | |||||||
| chr9:95490759 | C | G | 8 | a0002c0001t0004g0078 a0002c0001t0005g0005 a0002c0001t0005g0061 others(5): Show |
9 | HG02257.hp2 HG02630.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.392-4885G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490759 | |||||||
| chr9:95490929 | C | T | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.392-5055G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490929 | |||||||
| chr9:95490957 | C | T | 1 | a0001c0003t0003g0160 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.392-5083G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95490957 | |||||||
| chr9:95491121 | T | C | 5 | a0001c0002t0006g0181 a0001c0002t0006g0182 a0003c0005t0004g0070 others(2): Show |
5 | HG01952.hp1 HG02109.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.392-5247A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491121 | |||||||
| chr9:95491194 | G | A | 44 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(41): Show |
45 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(42): Show |
intron_variant | MODIFIER | c.392-5320C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491194 | |||||||
| chr9:95491208 | C | T | 14 | a0001c0002t0006g0181 a0001c0002t0006g0182 a0001c0002t0007g0025 others(11): Show |
15 | HG01109.hp2 HG01952.hp1 HG02056.hp1 others(12): Show |
intron_variant | MODIFIER | c.392-5334G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491208 | |||||||
| chr9:95491243 | C | T | 1 | a0002c0001t0030g0077 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.392-5369G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491243 | |||||||
| chr9:95491254 | G | A | 1 | a0003c0005t0002g0184 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.392-5380C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491254 | |||||||
| chr9:95491380 | G | A | 1 | a0001c0002t0006g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.392-5506C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491380 | |||||||
| chr9:95491381 | G | A | 1 | a0001c0002t0014g0011 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.392-5507C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491381 | |||||||
| chr9:95491469 | C | T | 1 | a0003c0005t0004g0070 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.392-5595G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491469 | |||||||
| chr9:95491554 | T | C | 1 | a0001c0003t0033g0026 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.392-5680A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491554 | |||||||
| chr9:95491776 | C | T | 2 | a0002c0001t0016g0035 a0014c0027t0001g0127 |
2 | NA18965.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.392-5902G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491776 | |||||||
| chr9:95491903 | T | C | 1 | a0002c0001t0001g0111 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.392-6029A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491903 | |||||||
| chr9:95491936 | T | C | 2 | a0001c0002t0002g0064 a0001c0002t0002g0112 |
2 | HG01071.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.392-6062A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491936 | |||||||
| chr9:95491947 | C | T | 1 | a0013c0026t0001g0076 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.392-6073G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95491947 | |||||||
| chr9:95492017 | A | T | 1 | a0001c0002t0006g0178 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.392-6143T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492017 | |||||||
| chr9:95492040 | G | A | 1 | a0002c0030t0001g0113 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.392-6166C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492040 | |||||||
| chr9:95492096 | C | T | 2 | a0001c0003t0001g0168 a0001c0003t0001g0169 |
2 | HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.392-6222G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492096 | |||||||
| chr9:95492190 | A | G | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.392-6316T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492190 | |||||||
| chr9:95492244 | C | A | 106 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(103): Show |
113 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(110): Show |
intron_variant | MODIFIER | c.392-6370G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492244 | |||||||
| chr9:95492328 | G | C | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.392-6454C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492328 | |||||||
| chr9:95492337 | T | C | 4 | a0001c0002t0007g0025 a0005c0009t0007g0016 a0005c0009t0007g0254 others(1): Show |
5 | HG02145.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.392-6463A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492337 | |||||||
| chr9:95492571 | A | G | 1 | a0008c0024t0002g0167 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.392-6697T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492571 | |||||||
| chr9:95492713 | G | A | 1 | a0001c0002t0008g0012 | 2 | HG02922.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.392-6839C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492713 | |||||||
| chr9:95492821 | A | AG | 150 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(147): Show |
158 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(155): Show |
intron_variant | MODIFIER | c.392-6948_392-6947i others(3): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95492821 | |||||||
| chr9:95493156 | T | C | 31 | a0001c0002t0006g0178 a0001c0002t0006g0250 a0001c0002t0019g0024 others(28): Show |
33 | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(30): Show |
intron_variant | MODIFIER | c.392-7282A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493156 | |||||||
| chr9:95493244 | G | A | 1 | a0002c0001t0001g0116 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.392-7370C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493244 | |||||||
| chr9:95493256 | A | C | 2 | a0001c0002t0006g0185 a0001c0029t0028g0189 |
2 | HG01081.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.392-7382T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493256 | |||||||
| chr9:95493337 | C | G | 1 | a0003c0005t0004g0207 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.392-7463G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493337 | |||||||
| chr9:95493545 | A | C | 1 | a0001c0002t0008g0200 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.392-7671T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493545 | |||||||
| chr9:95493746 | T | C | 1 | a0001c0002t0007g0025 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.392-7872A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493746 | |||||||
| chr9:95493750 | C | T | 1 | a0001c0003t0009g0171 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.392-7876G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493750 | |||||||
| chr9:95493801 | C | CA | 18 | a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0004g0173 others(15): Show |
18 | HG01884.hp2 HG02109.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.392-7928dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493801 | |||||||
| chr9:95493801 | C | CAA | 25 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(22): Show |
26 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(23): Show |
intron_variant | MODIFIER | c.392-7929_392-7928d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493801 | |||||||
| chr9:95493899 | G | A | 2 | a0001c0014t0002g0044 a0001c0014t0034g0068 |
2 | HG01081.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.392-8025C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493899 | |||||||
| chr9:95493953 | T | G | 2 | a0001c0002t0002g0117 a0002c0001t0002g0043 |
2 | HG01516.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.392-8079A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95493953 | |||||||
| chr9:95494027 | G | A | 43 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(40): Show |
44 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(41): Show |
intron_variant | MODIFIER | c.392-8153C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494027 | |||||||
| chr9:95494046 | C | T | 3 | a0003c0005t0002g0065 a0003c0005t0002g0066 a0003c0005t0002g0067 |
3 | HG03195.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.392-8172G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494046 | |||||||
| chr9:95494076 | A | AACCGCAC others(3): Show |
1 | a0001c0003t0009g0170 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.392-8212_392-8203d others(12): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494076 | |||||||
| chr9:95494076 | AACCGCAC others(3): Show |
A | 5 | a0001c0002t0002g0192 a0001c0002t0004g0199 a0001c0003t0021g0027 others(2): Show |
5 | HG02647.hp2 HG02818.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.392-8212_392-8203d others(12): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494076 | |||||||
| chr9:95494131 | C | T | 1 | a0001c0002t0019g0024 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.392-8257G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494131 | |||||||
| chr9:95494139 | C | T | 1 | a0002c0012t0001g0224 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.392-8265G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494139 | |||||||
| chr9:95494158 | T | A | 18 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(15): Show |
21 | HG01069.hp1 HG01071.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.392-8284A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494158 | |||||||
| chr9:95494164 | G | A | 3 | a0001c0003t0001g0168 a0001c0003t0001g0169 a0003c0005t0002g0184 |
3 | HG01884.hp2 HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.392-8290C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494164 | |||||||
| chr9:95494333 | C | T | 4 | a0001c0002t0007g0025 a0005c0009t0007g0016 a0005c0009t0007g0254 others(1): Show |
5 | HG02145.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.392-8459G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494333 | |||||||
| chr9:95494438 | C | G | 14 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(11): Show |
16 | HG01069.hp1 HG01071.hp2 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.392-8564G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494438 | |||||||
| chr9:95494769 | T | C | 1 | a0001c0002t0001g0125 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.392-8895A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494769 | |||||||
| chr9:95494827 | C | T | 1 | a0003c0005t0002g0065 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.392-8953G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494827 | |||||||
| chr9:95494886 | T | C | 1 | a0002c0001t0001g0118 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.392-9012A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95494886 | |||||||
| chr9:95495012 | C | T | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.392-9138G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495012 | |||||||
| chr9:95495023 | C | T | 33 | a0001c0002t0003g0226 a0001c0002t0035g0221 a0001c0004t0001g0015 others(30): Show |
34 | HG00140.hp2 HG00609.hp2 HG01074.hp2 others(31): Show |
intron_variant | MODIFIER | c.392-9149G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495023 | |||||||
| chr9:95495054 | G | A | 1 | a0003c0005t0002g0184 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.392-9180C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495054 | |||||||
| chr9:95495214 | C | T | 1 | a0001c0002t0001g0075 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.392-9340G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495214 | |||||||
| chr9:95495237 | A | C | 2 | a0001c0003t0002g0054 a0001c0003t0003g0154 |
2 | NA20752.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.392-9363T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495237 | |||||||
| chr9:95495427 | C | CT | 16 | a0001c0002t0002g0074 a0001c0002t0006g0181 a0001c0002t0006g0182 others(13): Show |
16 | HG01952.hp2 HG02109.hp1 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.392-9554dupA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495427 | |||||||
| chr9:95495441 | A | T | 4 | a0001c0002t0019g0024 a0001c0002t0019g0031 a0011c0038t0020g0253 others(1): Show |
4 | HG02723.hp2 HG02818.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.392-9567T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495441 | |||||||
| chr9:95495524 | G | A | 1 | a0001c0002t0029g0134 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.392-9650C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495524 | |||||||
| chr9:95495560 | C | T | 149 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0192 others(146): Show |
157 | HG00140.hp2 HG00423.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.392-9686G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495560 | |||||||
| chr9:95495646 | A | G | 2 | a0001c0002t0011g0010 a0001c0002t0011g0162 |
3 | HG01243.hp1 HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.392-9772T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495646 | |||||||
| chr9:95495753 | T | TG | 8 | a0001c0003t0004g0173 a0001c0003t0004g0175 a0001c0003t0004g0176 others(5): Show |
8 | HG02145.hp2 HG02615.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.392-9880dupC | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95495753 | |||||||
| chr9:95496084 | T | C | 1 | a0001c0003t0004g0176 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.392-10210A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95496084 | |||||||
| chr9:95496128 | C | A | 1 | a0001c0003t0026g0150 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.392-10254G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95496128 | |||||||
| chr9:95496199 | C | G | 1 | a0003c0005t0001g0214 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.391+10208G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95496199 | |||||||
| chr9:95496537 | T | TA | 20 | a0001c0002t0006g0250 a0001c0021t0001g0218 a0002c0001t0005g0251 others(17): Show |
22 | HG00673.hp2 HG02015.hp1 HG02056.hp2 others(19): Show |
intron_variant | MODIFIER | c.391+9869dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95496537 | |||||||
| chr9:95496979 | G | A | 2 | a0001c0002t0006g0185 a0001c0029t0028g0189 |
2 | HG01081.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.391+9428C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95496979 | |||||||
| chr9:95497421 | T | G | 131 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(128): Show |
138 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.391+8986A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95497421 | |||||||
| chr9:95497489 | CT | C | 131 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(128): Show |
138 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.391+8917delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95497489 | |||||||
| chr9:95497951 | C | T | 1 | a0001c0002t0001g0004 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.391+8456G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95497951 | |||||||
| chr9:95497967 | G | A | 8 | a0001c0002t0007g0025 a0001c0003t0021g0027 a0001c0003t0021g0028 others(5): Show |
9 | HG01884.hp2 HG02145.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.391+8440C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95497967 | |||||||
| chr9:95498232 | G | A | 131 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(128): Show |
138 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.391+8175C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95498232 | |||||||
| chr9:95498273 | T | C | 8 | a0001c0002t0011g0010 a0001c0002t0011g0162 a0001c0002t0011g0165 others(5): Show |
9 | HG01109.hp2 HG01243.hp1 HG01952.hp1 others(6): Show |
intron_variant | MODIFIER | c.391+8134A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95498273 | |||||||
| chr9:95498656 | T | C | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.391+7751A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95498656 | |||||||
| chr9:95498729 | G | T | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.391+7678C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95498729 | |||||||
| chr9:95498750 | C | A | 17 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(14): Show |
18 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(15): Show |
intron_variant | MODIFIER | c.391+7657G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95498750 | |||||||
| chr9:95499108 | C | T | 1 | a0001c0004t0001g0220 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.391+7299G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95499108 | |||||||
| chr9:95499519 | G | C | 4 | a0001c0002t0007g0025 a0005c0009t0007g0016 a0005c0009t0007g0254 others(1): Show |
5 | HG02145.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.391+6888C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95499519 | |||||||
| chr9:95499783 | C | G | 1 | a0001c0002t0002g0195 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.391+6624G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95499783 | |||||||
| chr9:95499896 | G | A | 42 | a0001c0002t0002g0172 a0001c0002t0006g0181 a0001c0002t0006g0182 others(39): Show |
44 | HG00597.hp1 HG00738.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.391+6511C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95499896 | |||||||
| chr9:95499908 | C | G | 5 | a0001c0014t0002g0044 a0001c0014t0034g0068 a0003c0005t0002g0065 others(2): Show |
5 | HG01081.hp2 HG03195.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.391+6499G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95499908 | |||||||
| chr9:95499941 | G | A | 45 | a0001c0002t0002g0172 a0001c0002t0006g0181 a0001c0002t0006g0182 others(42): Show |
47 | HG00597.hp1 HG00738.hp2 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.391+6466C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95499941 | |||||||
| chr9:95500002 | C | A | 2 | a0011c0038t0020g0253 a0012c0025t0020g0183 |
2 | HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.391+6405G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500002 | |||||||
| chr9:95500035 | G | A | 1 | a0001c0002t0002g0119 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.391+6372C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500035 | |||||||
| chr9:95500116 | G | A | 1 | a0001c0002t0008g0203 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.391+6291C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500116 | |||||||
| chr9:95500213 | A | G | 1 | a0002c0001t0002g0045 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.391+6194T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500213 | |||||||
| chr9:95500350 | T | C | 3 | a0001c0007t0012g0018 a0001c0036t0012g0019 a0009c0037t0012g0022 |
3 | HG02015.hp2 HG02071.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.391+6057A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500350 | |||||||
| chr9:95500353 | C | T | 1 | a0001c0004t0001g0247 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.391+6054G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500353 | |||||||
| chr9:95500453 | A | G | 61 | a0001c0002t0001g0245 a0001c0002t0002g0124 a0001c0002t0003g0226 others(58): Show |
65 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(62): Show |
intron_variant | MODIFIER | c.391+5954T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500453 | |||||||
| chr9:95500551 | A | G | 132 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(129): Show |
139 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(136): Show |
intron_variant | MODIFIER | c.391+5856T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500551 | |||||||
| chr9:95500575 | C | T | 1 | a0001c0002t0001g0130 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.391+5832G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500575 | |||||||
| chr9:95500654 | G | A | 1 | a0001c0004t0003g0246 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.391+5753C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500654 | |||||||
| chr9:95500747 | C | T | 16 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(13): Show |
17 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.391+5660G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500747 | |||||||
| chr9:95500838 | T | C | 2 | a0001c0003t0021g0028 a0001c0003t0033g0026 |
2 | HG02451.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.391+5569A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500838 | |||||||
| chr9:95500856 | A | C | 17 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(14): Show |
18 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(15): Show |
intron_variant | MODIFIER | c.391+5551T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500856 | |||||||
| chr9:95500950 | C | T | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.391+5457G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500950 | |||||||
| chr9:95500961 | G | A | 1 | a0001c0002t0004g0055 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.391+5446C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95500961 | |||||||
| chr9:95501063 | T | C | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.391+5344A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95501063 | |||||||
| chr9:95501174 | C | A | 16 | a0001c0021t0001g0218 a0003c0005t0001g0014 a0003c0005t0001g0152 others(13): Show |
18 | HG00673.hp2 HG02015.hp1 HG02056.hp2 others(15): Show |
intron_variant | MODIFIER | c.391+5233G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95501174 | |||||||
| chr9:95501375 | G | C | 3 | a0001c0002t0002g0120 a0001c0003t0002g0054 a0002c0001t0031g0121 |
3 | HG00639.hp2 HG02683.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.391+5032C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95501375 | |||||||
| chr9:95501539 | T | TA | 98 | a0001c0002t0001g0245 a0001c0002t0002g0124 a0001c0002t0002g0172 others(95): Show |
104 | HG00140.hp2 HG00408.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.391+4867dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95501539 | |||||||
| chr9:95501539 | TA | T | 7 | a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0002g0064 others(4): Show |
7 | HG01069.hp2 HG01074.hp1 HG01167.hp2 others(4): Show |
intron_variant | MODIFIER | c.391+4867delT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95501539 | |||||||
| chr9:95501539 | TAAA | T | 18 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(15): Show |
19 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.391+4865_391+4867d others(5): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95501539 | |||||||
| chr9:95501588 | G | A | 16 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(13): Show |
17 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.391+4819C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95501588 | |||||||
| chr9:95501985 | A | G | 1 | a0003c0005t0001g0219 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.391+4422T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95501985 | |||||||
| chr9:95502055 | G | C | 3 | a0001c0003t0004g0175 a0001c0003t0004g0176 a0001c0003t0004g0177 |
3 | HG03195.hp2 NA18906.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.391+4352C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502055 | |||||||
| chr9:95502090 | A | G | 8 | a0001c0002t0011g0010 a0001c0002t0011g0162 a0001c0002t0011g0165 others(5): Show |
9 | HG01109.hp2 HG01243.hp1 HG01952.hp1 others(6): Show |
intron_variant | MODIFIER | c.391+4317T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502090 | |||||||
| chr9:95502236 | G | A | 2 | a0003c0005t0001g0214 a0006c0022t0004g0215 |
2 | HG02129.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.391+4171C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502236 | |||||||
| chr9:95502466 | C | A | 2 | a0002c0001t0015g0003 a0002c0001t0015g0049 |
3 | HG01123.hp2 HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.391+3941G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502466 | |||||||
| chr9:95502660 | A | C | 45 | a0001c0002t0002g0172 a0001c0002t0006g0181 a0001c0002t0006g0182 others(42): Show |
47 | HG00597.hp1 HG00738.hp2 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.391+3747T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502660 | |||||||
| chr9:95502666 | A | C | 16 | a0001c0021t0001g0218 a0003c0005t0001g0014 a0003c0005t0001g0152 others(13): Show |
18 | HG00673.hp2 HG02015.hp1 HG02056.hp2 others(15): Show |
intron_variant | MODIFIER | c.391+3741T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502666 | |||||||
| chr9:95502722 | C | A | 17 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(14): Show |
18 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(15): Show |
intron_variant | MODIFIER | c.391+3685G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502722 | |||||||
| chr9:95502869 | G | A | 1 | a0001c0004t0001g0220 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.391+3538C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502869 | |||||||
| chr9:95502894 | C | T | 1 | a0002c0001t0005g0061 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.391+3513G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502894 | |||||||
| chr9:95502907 | G | A | 2 | a0001c0003t0009g0179 a0001c0003t0009g0180 |
2 | HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.391+3500C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502907 | |||||||
| chr9:95502936 | C | T | 6 | a0001c0002t0008g0012 a0001c0002t0008g0193 a0001c0002t0008g0200 others(3): Show |
7 | HG01243.hp2 HG02922.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.391+3471G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95502936 | |||||||
| chr9:95503243 | G | A | 1 | a0001c0004t0001g0247 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.391+3164C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95503243 | |||||||
| chr9:95503380 | C | A | 3 | a0001c0002t0002g0192 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.391+3027G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95503380 | |||||||
| chr9:95503405 | G | A | 1 | a0001c0002t0006g0178 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.391+3002C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95503405 | |||||||
| chr9:95503498 | C | T | 132 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(129): Show |
139 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(136): Show |
intron_variant | MODIFIER | c.391+2909G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95503498 | |||||||
| chr9:95503551 | G | T | 1 | a0001c0003t0003g0160 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.391+2856C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95503551 | |||||||
| chr9:95503619 | A | G | 45 | a0001c0002t0002g0172 a0001c0002t0006g0181 a0001c0002t0006g0182 others(42): Show |
47 | HG00597.hp1 HG00738.hp2 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.391+2788T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95503619 | |||||||
| chr9:95503732 | TAGGGCCG others(322): Show |
T | 140 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(137): Show |
148 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(145): Show |
intron_variant | MODIFIER | c.391+2346_391+2674d others(2): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95503732 | |||||||
| chr9:95504022 | C | CA | 6 | a0001c0002t0001g0105 a0001c0014t0002g0044 a0002c0001t0001g0006 others(3): Show |
7 | HG00408.hp1 HG01099.hp2 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.391+2384dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | C | CAAAAAAA others(6): Show |
1 | a0002c0033t0001g0083 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.391+2372_391+2384d others(15): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | CA | C | 33 | a0001c0002t0001g0063 a0001c0002t0001g0075 a0001c0002t0002g0030 others(30): Show |
33 | HG00423.hp1 HG00558.hp1 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.391+2384delT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | CAA | C | 28 | a0001c0002t0001g0004 a0001c0002t0001g0062 a0001c0002t0001g0132 others(25): Show |
30 | HG01106.hp1 HG01109.hp1 HG01123.hp1 others(27): Show |
intron_variant | MODIFIER | c.391+2383_391+2384d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | CAAA | C | 24 | a0001c0002t0001g0004 a0001c0002t0001g0095 a0001c0002t0001g0099 others(21): Show |
24 | HG00639.hp1 HG01069.hp2 HG01175.hp2 others(21): Show |
intron_variant | MODIFIER | c.391+2382_391+2384d others(5): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | CAAAAAAA others(4): Show |
C | 1 | a0002c0001t0003g0128 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.391+2374_391+2384d others(13): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | CAAAAAAA others(10): Show |
C | 1 | a0003c0005t0002g0065 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.391+2368_391+2384d others(19): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | CAAAAAAA others(11): Show |
C | 2 | a0001c0002t0019g0031 a0001c0004t0001g0069 |
2 | HG03471.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.391+2367_391+2384d others(20): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | CAAAAAAA others(12): Show |
C | 2 | a0001c0002t0019g0024 a0002c0001t0017g0007 |
2 | HG02071.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.391+2366_391+2384d others(21): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504022 | CAAAAAAA others(14): Show |
C | 1 | a0003c0005t0004g0072 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.391+2364_391+2384d others(23): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504022 | |||||||
| chr9:95504056 | A | C | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.391+2351T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504056 | |||||||
| chr9:95504061 | A | T | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.391+2346T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504061 | |||||||
| chr9:95504088 | A | G | 132 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(129): Show |
139 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(136): Show |
intron_variant | MODIFIER | c.391+2319T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504088 | |||||||
| chr9:95504380 | G | A | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.391+2027C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504380 | |||||||
| chr9:95504573 | T | A | 46 | a0001c0002t0002g0172 a0001c0002t0006g0178 a0001c0002t0006g0181 others(43): Show |
48 | HG00597.hp1 HG00738.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.391+1834A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95504573 | |||||||
| chr9:95505066 | G | A | 1 | a0009c0037t0012g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.391+1341C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505066 | |||||||
| chr9:95505141 | G | A | 24 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(21): Show |
26 | HG01243.hp2 HG01884.hp1 HG02145.hp1 others(23): Show |
intron_variant | MODIFIER | c.391+1266C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505141 | |||||||
| chr9:95505266 | C | T | 2 | a0001c0003t0009g0179 a0001c0003t0009g0180 |
2 | HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.391+1141G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505266 | |||||||
| chr9:95505300 | G | A | 1 | a0001c0029t0028g0189 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.391+1107C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505300 | |||||||
| chr9:95505359 | G | A | 1 | a0002c0001t0001g0123 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.391+1048C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505359 | |||||||
| chr9:95505361 | A | T | 6 | a0001c0002t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 others(3): Show |
7 | HG01106.hp2 HG01123.hp2 HG01516.hp1 others(4): Show |
intron_variant | MODIFIER | c.391+1046T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505361 | |||||||
| chr9:95505464 | T | G | 140 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(137): Show |
148 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(145): Show |
intron_variant | MODIFIER | c.391+943A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505464 | |||||||
| chr9:95505488 | G | A | 1 | a0001c0002t0008g0193 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.391+919C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505488 | |||||||
| chr9:95505833 | T | C | 1 | a0001c0003t0003g0160 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.391+574A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505833 | |||||||
| chr9:95505881 | G | T | 6 | a0001c0002t0008g0012 a0001c0002t0008g0193 a0001c0002t0008g0200 others(3): Show |
7 | HG01243.hp2 HG02922.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.391+526C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505881 | |||||||
| chr9:95505918 | C | A | 1 | a0001c0004t0001g0248 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.391+489G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505918 | |||||||
| chr9:95505983 | C | T | 1 | a0002c0019t0001g0059 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.391+424G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95505983 | |||||||
| chr9:95506114 | G | A | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.391+293C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95506114 | |||||||
| chr9:95506192 | C | G | 1 | a0001c0003t0006g0186 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.391+215G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95506192 | |||||||
| chr9:95506195 | G | T | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.391+212C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95506195 | |||||||
| chr9:95506336 | T | C | 2 | a0001c0002t0011g0010 a0001c0002t0011g0162 |
3 | HG01243.hp1 HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.391+71A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | 95506336 | |||||||
| chr9:95506656 | A | ACGCCCGC others(11): Show |
24 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(21): Show |
25 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(22): Show |
intron_variant | MODIFIER | c.199-75_199-58dupGG others(16): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95506656 | |||||||
| chr9:95506816 | G | A | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.199-217C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95506816 | |||||||
| chr9:95507136 | CG | C | 85 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(82): Show |
90 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(87): Show |
intron_variant | MODIFIER | c.199-538delC | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507136 | |||||||
| chr9:95507156 | C | T | 1 | a0001c0002t0001g0004 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.199-557G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507156 | |||||||
| chr9:95507208 | G | C | 1 | a0001c0002t0001g0125 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.199-609C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507208 | |||||||
| chr9:95507381 | G | A | 3 | a0001c0002t0002g0194 a0001c0002t0024g0197 a0001c0023t0002g0196 |
3 | HG02451.hp1 HG02622.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.199-782C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507381 | |||||||
| chr9:95507433 | T | A | 1 | a0002c0012t0001g0249 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.199-834A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507433 | |||||||
| chr9:95507655 | A | C | 1 | a0001c0003t0003g0138 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.199-1056T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507655 | |||||||
| chr9:95507757 | T | C | 4 | a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0024g0197 others(1): Show |
4 | HG02451.hp1 HG02622.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.199-1158A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507757 | |||||||
| chr9:95507764 | C | T | 4 | a0001c0002t0004g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 others(1): Show |
4 | HG02559.hp2 HG02965.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.199-1165G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507764 | |||||||
| chr9:95507792 | A | T | 1 | a0001c0003t0002g0054 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.199-1193T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507792 | |||||||
| chr9:95507886 | A | G | 131 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(128): Show |
138 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.199-1287T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507886 | |||||||
| chr9:95507889 | A | G | 141 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(138): Show |
149 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(146): Show |
intron_variant | MODIFIER | c.199-1290T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507889 | |||||||
| chr9:95507905 | T | TAC | 13 | a0001c0002t0006g0185 a0001c0002t0007g0025 a0001c0002t0019g0024 others(10): Show |
14 | HG01081.hp1 HG01884.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.199-1308_199-1307d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507905 | |||||||
| chr9:95507905 | T | TACAC | 124 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(121): Show |
131 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(128): Show |
intron_variant | MODIFIER | c.199-1310_199-1307d others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507905 | |||||||
| chr9:95507905 | T | TACACAC | 3 | a0001c0002t0006g0178 a0001c0003t0004g0177 a0001c0021t0001g0218 |
3 | HG02257.hp1 HG02683.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.199-1312_199-1307d others(8): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95507905 | |||||||
| chr9:95508034 | TGTGA | T | 49 | a0001c0002t0002g0172 a0001c0002t0002g0192 a0001c0002t0002g0252 others(46): Show |
51 | HG00597.hp1 HG00738.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.199-1439_199-1436d others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508034 | |||||||
| chr9:95508038 | AGTGAGTG others(1): Show |
A | 62 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0006g0250 others(59): Show |
66 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.199-1447_199-1440d others(10): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508038 | |||||||
| chr9:95508040 | TGA | T | 14 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(11): Show |
15 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(12): Show |
intron_variant | MODIFIER | c.199-1443_199-1442d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508040 | |||||||
| chr9:95508042 | A | T | 7 | a0001c0002t0002g0110 a0001c0007t0012g0018 a0001c0007t0013g0017 others(4): Show |
7 | HG00423.hp2 HG01358.hp1 HG02015.hp2 others(4): Show |
intron_variant | MODIFIER | c.199-1443T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508042 | |||||||
| chr9:95508060 | A | T | 17 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(14): Show |
18 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(15): Show |
intron_variant | MODIFIER | c.199-1461T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508060 | |||||||
| chr9:95508253 | C | G | 2 | a0003c0011t0002g0163 a0003c0011t0002g0164 |
2 | NA18970.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.199-1654G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508253 | |||||||
| chr9:95508325 | G | C | 1 | a0002c0001t0001g0126 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.199-1726C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508325 | |||||||
| chr9:95508364 | T | TGCC | 84 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(81): Show |
89 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(86): Show |
intron_variant | MODIFIER | c.199-1768_199-1766d others(5): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508364 | |||||||
| chr9:95508628 | G | A | 1 | a0002c0001t0005g0251 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.199-2029C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508628 | |||||||
| chr9:95508702 | T | G | 3 | a0001c0002t0002g0192 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.199-2103A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95508702 | |||||||
| chr9:95509160 | C | T | 1 | a0002c0001t0007g0053 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.199-2561G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95509160 | |||||||
| chr9:95509256 | G | T | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.199-2657C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95509256 | |||||||
| chr9:95509397 | T | A | 1 | a0001c0002t0006g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.199-2798A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95509397 | |||||||
| chr9:95509474 | G | A | 1 | a0001c0002t0002g0194 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.199-2875C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95509474 | |||||||
| chr9:95509615 | GCA | G | 6 | a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0042 others(3): Show |
6 | NA18960.hp1 NA18960.hp2 NA18969.hp1 others(3): Show |
intron_variant | MODIFIER | c.199-3018_199-3017d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95509615 | |||||||
| chr9:95509724 | C | T | 6 | a0001c0002t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 others(3): Show |
7 | HG01106.hp2 HG01123.hp2 HG01516.hp1 others(4): Show |
intron_variant | MODIFIER | c.199-3125G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95509724 | |||||||
| chr9:95509742 | C | G | 1 | a0001c0002t0002g0194 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.199-3143G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95509742 | |||||||
| chr9:95510002 | T | TA | 29 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0003t0027g0244 others(26): Show |
30 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(27): Show |
intron_variant | MODIFIER | c.199-3404dupT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510002 | |||||||
| chr9:95510002 | TA | T | 15 | a0001c0002t0002g0192 a0001c0002t0019g0024 a0001c0002t0019g0031 others(12): Show |
15 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.199-3404delT | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510002 | |||||||
| chr9:95510012 | A | C | 1 | a0002c0001t0002g0043 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.199-3413T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510012 | |||||||
| chr9:95510182 | T | C | 54 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0006g0250 others(51): Show |
57 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(54): Show |
intron_variant | MODIFIER | c.199-3583A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510182 | |||||||
| chr9:95510209 | T | G | 1 | a0002c0001t0001g0129 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.199-3610A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510209 | |||||||
| chr9:95510348 | G | C | 141 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(138): Show |
149 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(146): Show |
intron_variant | MODIFIER | c.199-3749C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510348 | |||||||
| chr9:95510545 | C | T | 3 | a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0042 |
3 | NA18960.hp1 NA18960.hp2 NA18969.hp1 |
intron_variant | MODIFIER | c.199-3946G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510545 | |||||||
| chr9:95510587 | C | T | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.199-3988G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510587 | |||||||
| chr9:95510672 | T | C | 3 | a0001c0002t0006g0185 a0001c0029t0028g0189 a0003c0005t0002g0184 |
3 | HG01081.hp1 HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.199-4073A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510672 | |||||||
| chr9:95510742 | GAAGA | G | 17 | a0001c0002t0002g0172 a0001c0002t0006g0178 a0001c0002t0006g0181 others(14): Show |
18 | HG01069.hp1 HG01071.hp2 HG01255.hp1 others(15): Show |
intron_variant | MODIFIER | c.199-4147_199-4144d others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510742 | |||||||
| chr9:95510843 | G | T | 1 | a0001c0002t0002g0194 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.199-4244C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510843 | |||||||
| chr9:95510906 | G | T | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.199-4307C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95510906 | |||||||
| chr9:95511023 | T | G | 26 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(23): Show |
27 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(24): Show |
intron_variant | MODIFIER | c.199-4424A>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511023 | |||||||
| chr9:95511124 | C | T | 1 | a0001c0003t0003g0142 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.199-4525G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511124 | |||||||
| chr9:95511125 | C | T | 2 | a0002c0001t0001g0038 a0002c0001t0001g0039 |
2 | NA18967.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.199-4526G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511125 | |||||||
| chr9:95511137 | C | T | 1 | a0001c0004t0001g0220 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.199-4538G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511137 | |||||||
| chr9:95511398 | G | A | 1 | a0001c0002t0001g0130 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.199-4799C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511398 | |||||||
| chr9:95511429 | C | G | 1 | a0002c0001t0001g0037 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.199-4830G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511429 | |||||||
| chr9:95511435 | C | G | 2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.199-4836G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511435 | |||||||
| chr9:95511509 | G | A | 60 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0006g0250 others(57): Show |
64 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(61): Show |
intron_variant | MODIFIER | c.199-4910C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511509 | |||||||
| chr9:95511512 | C | T | 1 | a0001c0002t0004g0199 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.199-4913G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511512 | |||||||
| chr9:95511525 | C | T | 1 | a0001c0002t0006g0185 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.199-4926G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511525 | |||||||
| chr9:95511595 | C | T | 2 | a0001c0002t0006g0250 a0002c0001t0005g0251 |
2 | HG02615.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.199-4996G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511595 | |||||||
| chr9:95511743 | A | G | 1 | a0002c0018t0005g0036 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.198+4880T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511743 | |||||||
| chr9:95511752 | A | C | 1 | a0002c0001t0016g0035 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.198+4871T>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95511752 | |||||||
| chr9:95512004 | T | C | 2 | a0001c0002t0019g0024 a0001c0002t0019g0031 |
2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.198+4619A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95512004 | |||||||
| chr9:95512123 | C | T | 1 | a0002c0001t0001g0034 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.198+4500G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95512123 | |||||||
| chr9:95512135 | C | A | 1 | a0001c0002t0002g0198 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.198+4488G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95512135 | |||||||
| chr9:95512527 | C | T | 1 | a0002c0001t0023g0033 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.198+4096G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95512527 | |||||||
| chr9:95512815 | C | G | 60 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0006g0250 others(57): Show |
64 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(61): Show |
intron_variant | MODIFIER | c.198+3808G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95512815 | |||||||
| chr9:95512904 | T | C | 1 | a0001c0003t0003g0151 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.198+3719A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95512904 | |||||||
| chr9:95512992 | T | A | 3 | a0001c0002t0002g0192 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.198+3631A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95512992 | |||||||
| chr9:95513507 | C | T | 26 | a0001c0003t0001g0009 a0001c0003t0001g0137 a0001c0003t0001g0143 others(23): Show |
27 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(24): Show |
intron_variant | MODIFIER | c.198+3116G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95513507 | |||||||
| chr9:95513742 | G | A | 8 | a0001c0002t0007g0025 a0001c0003t0021g0027 a0001c0003t0021g0028 others(5): Show |
9 | HG02145.hp1 HG02451.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.198+2881C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95513742 | |||||||
| chr9:95513746 | C | T | 1 | a0002c0001t0001g0032 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.198+2877G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95513746 | |||||||
| chr9:95513823 | C | G | 32 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0035g0221 others(29): Show |
33 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(30): Show |
intron_variant | MODIFIER | c.198+2800G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95513823 | |||||||
| chr9:95513899 | T | C | 1 | a0002c0012t0001g0249 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.198+2724A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95513899 | |||||||
| chr9:95514089 | G | T | 60 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0006g0250 others(57): Show |
64 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(61): Show |
intron_variant | MODIFIER | c.198+2534C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514089 | |||||||
| chr9:95514092 | T | A | 60 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0006g0250 others(57): Show |
64 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(61): Show |
intron_variant | MODIFIER | c.198+2531A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514092 | |||||||
| chr9:95514195 | A | AT | 4 | a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 others(1): Show |
4 | HG02056.hp1 NA18956.hp1 NA18962.hp2 others(1): Show |
intron_variant | MODIFIER | c.198+2427dupA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514195 | |||||||
| chr9:95514321 | C | G | 16 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(13): Show |
17 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.198+2302G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514321 | |||||||
| chr9:95514471 | C | T | 131 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(128): Show |
138 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.198+2152G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514471 | |||||||
| chr9:95514621 | G | GGT | 3 | a0001c0002t0002g0030 a0001c0002t0019g0031 a0002c0001t0025g0029 |
3 | HG02135.hp2 HG03471.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.198+2000_198+2001d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514621 | |||||||
| chr9:95514621 | G | GGTGT | 9 | a0001c0002t0007g0025 a0001c0002t0008g0193 a0001c0003t0021g0027 others(6): Show |
10 | HG02145.hp1 HG02451.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.198+1998_198+2001d others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514621 | |||||||
| chr9:95514621 | GGT | G | 5 | a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0019g0024 others(2): Show |
5 | HG01069.hp2 HG01106.hp1 HG01123.hp1 others(2): Show |
intron_variant | MODIFIER | c.198+2000_198+2001d others(4): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514621 | |||||||
| chr9:95514647 | T | A | 1 | a0004c0006t0004g0135 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.198+1976A>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGA | 11 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0252 others(8): Show |
12 | HG01243.hp2 HG01884.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.198+1975_198+1976i others(6): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGAGA | 32 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0035g0221 others(29): Show |
33 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(30): Show |
intron_variant | MODIFIER | c.198+1975_198+1976i others(8): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGTGA | 28 | a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0198 others(25): Show |
30 | HG00423.hp2 HG00673.hp2 HG01952.hp1 others(27): Show |
intron_variant | MODIFIER | c.198+1975_198+1976i others(8): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGTGAG others(1): Show |
6 | a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0158 others(3): Show |
6 | HG01099.hp1 HG01167.hp1 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.198+1975_198+1976i others(10): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGTGTG others(1): Show |
28 | a0001c0002t0011g0010 a0001c0002t0011g0165 a0001c0003t0001g0009 others(25): Show |
30 | HG00597.hp1 HG01109.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.198+1975_198+1976i others(10): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGTGTG others(3): Show |
5 | a0001c0002t0006g0185 a0001c0003t0006g0186 a0001c0003t0006g0188 others(2): Show |
5 | HG01081.hp1 HG02109.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.198+1975_198+1976i others(12): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGTGTG others(5): Show |
1 | a0001c0002t0002g0192 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.198+1975_198+1976i others(14): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGTGTG others(3): Show |
13 | a0001c0002t0002g0172 a0001c0002t0006g0178 a0001c0002t0011g0162 others(10): Show |
14 | HG01069.hp1 HG01071.hp2 HG01255.hp1 others(11): Show |
intron_variant | MODIFIER | c.198+1975_198+1976i others(12): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGTGTG others(5): Show |
1 | a0003c0005t0002g0184 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.198+1975_198+1976i others(14): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514647 | T | TGTGTGTG others(11): Show |
2 | a0001c0013t0007g0190 a0001c0013t0007g0191 |
2 | HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.198+1975_198+1976i others(20): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514647 | |||||||
| chr9:95514649 | A | T | 8 | a0001c0002t0007g0025 a0001c0003t0021g0027 a0001c0003t0021g0028 others(5): Show |
9 | HG02145.hp1 HG02451.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.198+1974T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514649 | |||||||
| chr9:95514651 | A | T | 5 | a0001c0002t0007g0025 a0005c0009t0007g0016 a0005c0009t0007g0254 others(2): Show |
6 | HG02145.hp1 HG02572.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.198+1972T>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514651 | |||||||
| chr9:95514702 | AT | A | 3 | a0001c0002t0002g0192 a0001c0013t0007g0190 a0001c0013t0007g0191 |
3 | HG02818.hp1 HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.198+1920delA | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514702 | |||||||
| chr9:95514993 | G | C | 14 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0002g0194 others(11): Show |
15 | HG01243.hp2 HG01884.hp1 HG02451.hp1 others(12): Show |
intron_variant | MODIFIER | c.198+1630C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95514993 | |||||||
| chr9:95515031 | C | T | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.198+1592G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515031 | |||||||
| chr9:95515085 | AGTACCAC others(1): Show |
A | 50 | a0001c0002t0001g0245 a0001c0002t0003g0226 a0001c0002t0006g0250 others(47): Show |
53 | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(50): Show |
intron_variant | MODIFIER | c.198+1530_198+1537d others(10): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515085 | |||||||
| chr9:95515106 | G | T | 1 | a0001c0002t0019g0024 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.198+1517C>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515106 | |||||||
| chr9:95515234 | G | C | 6 | a0001c0007t0012g0018 a0001c0007t0013g0017 a0001c0007t0013g0020 others(3): Show |
6 | HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.198+1389C>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515234 | |||||||
| chr9:95515331 | T | C | 8 | a0001c0002t0011g0010 a0001c0002t0011g0162 a0001c0002t0011g0165 others(5): Show |
9 | HG01109.hp2 HG01243.hp1 HG01952.hp1 others(6): Show |
intron_variant | MODIFIER | c.198+1292A>G | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515331 | |||||||
| chr9:95515366 | A | G | 1 | a0001c0003t0004g0136 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.198+1257T>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515366 | |||||||
| chr9:95515509 | C | T | 1 | a0001c0002t0001g0023 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.198+1114G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515509 | |||||||
| chr9:95515720 | C | A | 2 | a0001c0002t0006g0250 a0002c0001t0005g0251 |
2 | HG02615.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.198+903G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515720 | |||||||
| chr9:95515984 | C | T | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.198+639G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95515984 | |||||||
| chr9:95516045 | G | A | 1 | a0001c0002t0002g0252 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.198+578C>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95516045 | |||||||
| chr9:95516050 | C | G | 131 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(128): Show |
138 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.198+573G>C | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95516050 | |||||||
| chr9:95516131 | C | T | 34 | a0001c0002t0011g0010 a0001c0002t0011g0162 a0001c0002t0011g0165 others(31): Show |
36 | HG00597.hp1 HG00738.hp2 HG01099.hp1 others(33): Show |
intron_variant | MODIFIER | c.198+492G>A | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95516131 | |||||||
| chr9:95516362 | C | A | 131 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0245 others(128): Show |
138 | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.198+261G>T | PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 1/23 | chr9 | 95516362 |