Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 728194 |
| ensemblid | ENSG00000169402.16 |
| hgncid | 34385 |
| symbol | RSPH10B2 |
| name | radial spoke head 10 homolog B2 |
| refseq_nuc | NM_001099697.2 |
| refseq_prot | NP_001093167.1 |
| ensembl_nuc | ENST00000404077.6 |
| ensembl_prot | ENSP00000386102.1 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 6754103 |
| end | 6798765 |
| strand | + |
| ver | v1.2 |
| region | chr7:6754103-6798765 |
| region5000 | chr7:6749103-6803765 |
| regionname0 | RSPH10B2_chr7_6754103_6798765 |
| regionname5000 | RSPH10B2_chr7_6749103_6803765 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 870 | 35 | 9 | 9 | 14 | 1 | 2 | 10 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0002 | 0/0 | 870 | 32 | 6 | 4 | 12 | 0 | 10 | 9 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0003 | 0/0 | 870 | 13 | 3 | 3 | 4 | 0 | 3 | 2 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0004 | 0/0 | 870 | 13 | 1 | 3 | 4 | 1 | 4 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0005 | 0/0 | 870 | 4 | 2 | 1 | 1 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0006 | 0/0 | 870 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0007 | 0/0 | 870 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0008 | 0/0 | 870 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0009 | 0/0 | 870 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0010 | 0/0 | 870 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0011 | 0/0 | 870 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0012 | 0/0 | 870 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0013 | 0/0 | 870 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0014 | 0/0 | 870 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| a0015 | 0/0 | 870 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | MVKEK others(865): Show |
chr7 | 6749103 | 6803765 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 2610 | 30 | 8 | 7 | 13 | 0 | 2 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0001c0008 | 0/0 | 2610 | 3 | 0 | 1 | 1 | 1 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0001c0024 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0001c0026 | 0/0 | 2610 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0002c0002 | 0/0 | 2610 | 14 | 1 | 2 | 6 | 0 | 5 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0002c0005 | 0/0 | 2610 | 7 | 2 | 1 | 1 | 0 | 3 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0002c0006 | 0/0 | 2610 | 4 | 0 | 0 | 3 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0002c0011 | 0/0 | 2610 | 2 | 1 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0002c0012 | 0/0 | 2610 | 2 | 0 | 1 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0002c0025 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0002c0027 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0002c0029 | 0/0 | 2610 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0003c0004 | 0/0 | 2610 | 8 | 1 | 1 | 3 | 0 | 3 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0003c0007 | 0/0 | 2610 | 3 | 1 | 1 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0003c0015 | 0/0 | 2610 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0003c0020 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0004c0003 | 0/0 | 2610 | 13 | 1 | 3 | 4 | 1 | 4 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0005c0009 | 0/0 | 2610 | 2 | 1 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0005c0018 | 0/0 | 2610 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0005c0019 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0006c0010 | 0/0 | 2610 | 2 | 0 | 0 | 0 | 0 | 2 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0007c0022 | 0/0 | 2610 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0008c0021 | 0/0 | 2610 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0009c0023 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0010c0028 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0011c0014 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0012c0030 | 0/0 | 2610 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0013c0016 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0014c0017 | 0/0 | 2610 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 | ||
| a0015c0013 | 0/0 | 2610 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | ATGGT others(2605): Show |
chr7 | 6749103 | 6803765 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002 | 0/0 | 3112 | 25 | 3 | 7 | 13 | 0 | 2 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0001c0001t0003 | 0/0 | 3112 | 5 | 5 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0001c0008t0002 | 0/0 | 3112 | 3 | 0 | 1 | 1 | 1 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0001c0024t0006 | 0/0 | 3112 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0001c0026t0002 | 0/0 | 3112 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0002c0002t0001 | 0/0 | 3110 | 12 | 0 | 1 | 6 | 0 | 5 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0002c0002t0002 | 0/0 | 3112 | 2 | 1 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0002c0005t0001 | 0/0 | 3110 | 7 | 2 | 1 | 1 | 0 | 3 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0002c0006t0001 | 0/0 | 3110 | 4 | 0 | 0 | 3 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0002c0011t0001 | 0/0 | 3110 | 2 | 1 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0002c0012t0002 | 0/0 | 3112 | 2 | 0 | 1 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0002c0025t0001 | 0/0 | 3110 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0002c0027t0005 | 0/0 | 3107 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3102): Show |
chr7 | 6749103 | 6803765 |
| a0002c0029t0004 | 0/0 | 3110 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0003c0004t0001 | 0/0 | 3110 | 7 | 1 | 1 | 3 | 0 | 2 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0003c0004t0004 | 0/0 | 3110 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0003c0007t0001 | 0/0 | 3110 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0003c0007t0004 | 0/0 | 3110 | 2 | 0 | 1 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0003c0015t0001 | 0/0 | 3110 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0003c0020t0001 | 0/0 | 3110 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0004c0003t0001 | 0/0 | 3110 | 13 | 1 | 3 | 4 | 1 | 4 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0005c0009t0002 | 0/0 | 3112 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0005c0009t0003 | 0/0 | 3112 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0005c0018t0001 | 0/0 | 3110 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0005c0019t0001 | 0/0 | 3110 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0006c0010t0001 | 0/0 | 3110 | 2 | 0 | 0 | 0 | 0 | 2 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0007c0022t0002 | 0/0 | 3112 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0008c0021t0003 | 0/0 | 3112 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0009c0023t0002 | 0/0 | 3112 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0010c0028t0005 | 0/0 | 3107 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3102): Show |
chr7 | 6749103 | 6803765 |
| a0011c0014t0001 | 0/0 | 3110 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0012c0030t0001 | 0/0 | 3110 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| a0013c0016t0007 | 0/0 | 3112 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0014c0017t0002 | 0/0 | 3112 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3107): Show |
chr7 | 6749103 | 6803765 |
| a0015c0013t0001 | 0/0 | 3110 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | GGGTC others(3105): Show |
chr7 | 6749103 | 6803765 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0003g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0003g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0003g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0003g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0001t0003g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0008t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0008t0002g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0008t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0024t0006g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0001c0026t0002g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0002t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0005t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0005t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0005t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0005t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0005t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0005t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0005t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0006t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0006t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0006t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0006t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0011t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0011t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0012t0002g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0012t0002g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0025t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0027t0005g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0002c0029t0004g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0004t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0004t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0004t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0004t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0004t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0004t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0004t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0004t0004g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0007t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0007t0004g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0007t0004g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0015t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0003c0020t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0004c0003t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0005c0009t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0005c0009t0003g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0005c0018t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0005c0019t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0006c0010t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0006c0010t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0007c0022t0002g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0008c0021t0003g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0009c0023t0002g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0010c0028t0005g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0011c0014t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0012c0030t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0013c0016t0007g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0014c0017t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| a0015c0013t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00438 | hp1 | a0003 | c0007 | t0004 | g0092 | EAS | CHS | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG00438 | hp2 | a0001 | c0008 | t0002 | g0081 | EAS | CHS | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG00642 | hp1 | a0007 | c0022 | t0002 | g0007 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG00642 | hp2 | a0008 | c0021 | t0003 | g0088 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG00741 | hp1 | a0004 | c0003 | t0001 | g0017 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0052 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01071 | hp1 | a0001 | c0008 | t0002 | g0040 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01071 | hp2 | a0003 | c0015 | t0001 | g0056 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01167 | hp1 | a0001 | c0001 | t0002 | g0054 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01167 | hp2 | a0002 | c0012 | t0002 | g0021 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01243 | hp1 | a0005 | c0018 | t0001 | g0072 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01243 | hp2 | a0002 | c0002 | t0002 | g0057 | AMR | PUR | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01256 | hp1 | a0001 | c0001 | t0002 | g0107 | AMR | CLM | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0055 | AMR | CLM | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01261 | hp1 | a0004 | c0003 | t0001 | g0024 | AMR | CLM | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01261 | hp2 | a0001 | c0001 | t0002 | g0031 | AMR | CLM | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01433 | hp1 | a0003 | c0007 | t0004 | g0091 | AMR | CLM | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01433 | hp2 | a0001 | c0026 | t0002 | g0053 | AMR | CLM | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01517 | hp1 | a0004 | c0003 | t0001 | g0018 | EUR | IBS | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01517 | hp2 | a0001 | c0008 | t0002 | g0045 | EUR | IBS | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01884 | hp1 | a0002 | c0025 | t0001 | g0108 | AFR | ACB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01884 | hp2 | a0004 | c0003 | t0001 | g0025 | AFR | ACB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01891 | hp1 | a0001 | c0001 | t0003 | g0101 | AFR | ACB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01891 | hp2 | a0003 | c0020 | t0001 | g0065 | AFR | ACB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01978 | hp1 | a0001 | c0001 | t0002 | g0106 | AMR | PEL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01978 | hp2 | a0002 | c0002 | t0001 | g0039 | AMR | PEL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01981 | hp1 | a0004 | c0003 | t0001 | g0037 | AMR | PEL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG01981 | hp2 | a0001 | c0001 | t0002 | g0033 | AMR | PEL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02015 | hp1 | a0002 | c0029 | t0004 | g0095 | EAS | KHV | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02015 | hp2 | a0002 | c0002 | t0001 | g0049 | EAS | KHV | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02071 | hp1 | a0004 | c0003 | t0001 | g0010 | EAS | KHV | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0063 | EAS | KHV | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02074 | hp1 | a0002 | c0006 | t0001 | g0078 | EAS | KHV | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02074 | hp2 | a0001 | c0001 | t0002 | g0087 | EAS | KHV | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02135 | hp1 | a0003 | c0004 | t0001 | g0048 | EAS | KHV | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02135 | hp2 | a0004 | c0003 | t0001 | g0009 | EAS | KHV | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02148 | hp1 | a0002 | c0005 | t0001 | g0070 | AMR | PEL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02148 | hp2 | a0003 | c0004 | t0001 | g0001 | AMR | PEL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02602 | hp1 | a0002 | c0002 | t0001 | g0011 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02602 | hp2 | a0002 | c0006 | t0001 | g0044 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02622 | hp1 | a0001 | c0001 | t0003 | g0097 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02622 | hp2 | a0003 | c0007 | t0001 | g0077 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02647 | hp1 | a0005 | c0019 | t0001 | g0012 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02647 | hp2 | a0009 | c0023 | t0002 | g0085 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02735 | hp1 | a0003 | c0004 | t0004 | g0096 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02735 | hp2 | a0002 | c0002 | t0001 | g0062 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02809 | hp1 | a0001 | c0024 | t0006 | g0014 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02809 | hp2 | a0001 | c0001 | t0003 | g0098 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02818 | hp1 | a0001 | c0001 | t0003 | g0093 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02818 | hp2 | a0002 | c0027 | t0005 | g0013 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0079 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0051 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02895 | hp1 | a0010 | c0028 | t0005 | g0005 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02895 | hp2 | a0003 | c0004 | t0001 | g0003 | AFR | GWD | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02922 | hp1 | a0002 | c0005 | t0001 | g0043 | AFR | ESN | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02922 | hp2 | a0011 | c0014 | t0001 | g0089 | AFR | ESN | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02970 | hp1 | a0002 | c0002 | t0002 | g0058 | AFR | ESN | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG02970 | hp2 | a0005 | c0009 | t0003 | g0090 | AFR | ESN | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03239 | hp1 | a0002 | c0005 | t0001 | g0082 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03239 | hp2 | a0003 | c0004 | t0001 | g0102 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03492 | hp1 | a0002 | c0005 | t0001 | g0023 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03492 | hp2 | a0002 | c0002 | t0001 | g0061 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03669 | hp1 | a0012 | c0030 | t0001 | g0020 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03669 | hp2 | a0002 | c0002 | t0001 | g0032 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03688 | hp1 | a0006 | c0010 | t0001 | g0034 | SAS | STU | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03688 | hp2 | a0003 | c0004 | t0001 | g0103 | SAS | STU | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03704 | hp1 | a0002 | c0005 | t0001 | g0022 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03704 | hp2 | a0002 | c0012 | t0002 | g0105 | SAS | PJL | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0104 | SAS | BEB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG03942 | hp2 | a0004 | c0003 | t0001 | g0026 | SAS | BEB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG04115 | hp1 | a0001 | c0001 | t0002 | g0060 | SAS | STU | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG04115 | hp2 | a0004 | c0003 | t0001 | g0016 | SAS | STU | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG04184 | hp1 | a0004 | c0003 | t0001 | g0028 | SAS | BEB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0064 | SAS | BEB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG04228 | hp1 | a0004 | c0003 | t0001 | g0027 | SAS | STU | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| HG04228 | hp2 | a0006 | c0010 | t0001 | g0083 | SAS | STU | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18522 | hp1 | a0002 | c0005 | t0001 | g0015 | AFR | YRI | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18522 | hp2 | a0013 | c0016 | t0007 | g0100 | AFR | YRI | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18747 | hp1 | a0001 | c0001 | t0002 | g0073 | EAS | CHB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18747 | hp2 | a0004 | c0003 | t0001 | g0019 | EAS | CHB | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0068 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18942 | hp2 | a0003 | c0004 | t0001 | g0002 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18953 | hp1 | a0001 | c0001 | t0002 | g0035 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18953 | hp2 | a0002 | c0005 | t0001 | g0029 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18961 | hp1 | a0002 | c0002 | t0001 | g0076 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18961 | hp2 | a0001 | c0001 | t0002 | g0086 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18965 | hp1 | a0002 | c0002 | t0001 | g0066 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18965 | hp2 | a0001 | c0001 | t0002 | g0047 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18968 | hp1 | a0001 | c0001 | t0002 | g0046 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18968 | hp2 | a0002 | c0006 | t0001 | g0074 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18970 | hp1 | a0002 | c0006 | t0001 | g0042 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18970 | hp2 | a0001 | c0001 | t0002 | g0067 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18979 | hp1 | a0002 | c0002 | t0001 | g0036 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18979 | hp2 | a0004 | c0003 | t0001 | g0008 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18983 | hp1 | a0001 | c0001 | t0002 | g0080 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18983 | hp2 | a0003 | c0004 | t0001 | g0004 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18999 | hp1 | a0001 | c0001 | t0002 | g0059 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA18999 | hp2 | a0002 | c0011 | t0001 | g0069 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA19011 | hp1 | a0002 | c0002 | t0001 | g0050 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA19011 | hp2 | a0014 | c0017 | t0002 | g0084 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA19030 | hp1 | a0001 | c0001 | t0003 | g0094 | AFR | LWK | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA19030 | hp2 | a0002 | c0011 | t0001 | g0041 | AFR | LWK | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA19066 | hp1 | a0001 | c0001 | t0002 | g0075 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA19066 | hp2 | a0001 | c0001 | t0002 | g0038 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA19080 | hp1 | a0002 | c0002 | t0001 | g0071 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA19080 | hp2 | a0005 | c0009 | t0002 | g0030 | EAS | JPT | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA20300 | hp1 | a0001 | c0001 | t0002 | g0006 | AFR | USA | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| NA20300 | hp2 | a0015 | c0013 | t0001 | g0099 | AFR | USA | RSPH10B2_chr7_6749103_6803765 | RSPH10B2 | chr7 | 6749103 | 6803765 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:6757474 | C | T | 1 | a0013 | 1 | NA18522.hp2 | splice_region_variant | LOW | c.-88C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 2/21 | chr7 | 6757474 | |||||||
| chr7:6757889 | G | C | 7 | a0003 a0005 a0006 others(4): Show |
23 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(20): Show |
missense_variant | MODERATE | c.212G>C | p.Ser71Thr | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/21 | 489/3112 | 212/2613 | 71/870 | chr7 | 6757889 | |||
| chr7:6759104 | G | A | 1 | a0008 | 1 | HG00642.hp2 | missense_variant | MODERATE | c.275G>A | p.Arg92His | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/21 | 552/3112 | 275/2613 | 92/870 | chr7 | 6759104 | |||
| chr7:6763971 | C | T | 1 | a0004 | 13 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(10): Show |
missense_variant | MODERATE | c.443C>T | p.Thr148Met | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/21 | 720/3112 | 443/2613 | 148/870 | chr7 | 6763971 | |||
| chr7:6765766 | A | G | 1 | a0012 | 1 | HG03669.hp1 | missense_variant | MODERATE | c.634A>G | p.Ile212Val | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/21 | 911/3112 | 634/2613 | 212/870 | chr7 | 6765766 | |||
| chr7:6766774 | T | C | 2 | a0011 a0015 |
2 | HG02922.hp2 NA20300.hp2 |
missense_variant | MODERATE | c.677T>C | p.Ile226Thr | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/21 | 954/3112 | 677/2613 | 226/870 | chr7 | 6766774 | |||
| chr7:6776523 | C | G | 1 | a0007 | 1 | HG00642.hp1 | missense_variant | MODERATE | c.1391C>G | p.Ala464Gly | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/21 | 1668/3112 | 1391/2613 | 464/870 | chr7 | 6776523 | |||
| chr7:6779697 | C | T | 1 | a0014 | 1 | NA19011.hp2 | missense_variant | MODERATE | c.1502C>T | p.Ala501Val | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/21 | 1779/3112 | 1502/2613 | 501/870 | chr7 | 6779697 | |||
| chr7:6780877 | G | T | 1 | a0011 | 1 | HG02922.hp2 | missense_variant | MODERATE | c.1598G>T | p.Cys533Phe | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/21 | 1875/3112 | 1598/2613 | 533/870 | chr7 | 6780877 | |||
| chr7:6781339 | C | T | 1 | a0006 | 2 | HG03688.hp1 HG04228.hp2 |
missense_variant | MODERATE | c.1621C>T | p.Arg541Cys | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/21 | 1898/3112 | 1621/2613 | 541/870 | chr7 | 6781339 | |||
| chr7:6781352 | G | A | 1 | a0011 | 1 | HG02922.hp2 | missense_variant | MODERATE | c.1634G>A | p.Arg545Gln | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/21 | 1911/3112 | 1634/2613 | 545/870 | chr7 | 6781352 | |||
| chr7:6781368 | G | A | 2 | a0009 a0013 |
2 | HG02647.hp2 NA18522.hp2 |
missense_variant | MODERATE | c.1650G>A | p.Met550Ile | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/21 | 1927/3112 | 1650/2613 | 550/870 | chr7 | 6781368 | |||
| chr7:6787011 | T | C | 1 | a0011 | 1 | HG02922.hp2 | missense_variant | MODERATE | c.2000T>C | p.Ile667Thr | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/21 | 2277/3112 | 2000/2613 | 667/870 | chr7 | 6787011 | |||
| chr7:6796628 | C | T | 7 | a0002 a0003 a0004 others(4): Show |
62 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(59): Show |
missense_variant | MODERATE | c.2294C>T | p.Thr765Met | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/21 | 2571/3112 | 2294/2613 | 765/870 | chr7 | 6796628 | |||
| chr7:6798392 | A | G | 1 | a0010 | 1 | HG02895.hp1 | missense_variant | MODERATE | c.2462A>G | p.Glu821Gly | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 21/21 | 2739/3112 | 2462/2613 | 821/870 | chr7 | 6798392 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:6760276 | C | T | 1 | a0003c0020 | 1 | HG01891.hp2 | synonymous_variant | LOW | c.381C>T | p.Ala127Ala | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/21 | 658/3112 | 381/2613 | 127/870 | chr7 | 6760276 | |||
| chr7:6766853 | C | T | 4 | a0002c0029 a0003c0007 a0005c0019 others(1): Show |
7 | HG00438.hp1 HG01433.hp1 HG02015.hp1 others(4): Show |
synonymous_variant | LOW | c.756C>T | p.Thr252Thr | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/21 | 1033/3112 | 756/2613 | 252/870 | chr7 | 6766853 | |||
| chr7:6776374 | A | G | 2 | a0011c0014 a0015c0013 |
2 | HG02922.hp2 NA20300.hp2 |
synonymous_variant | LOW | c.1242A>G | p.Leu414Leu | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/21 | 1519/3112 | 1242/2613 | 414/870 | chr7 | 6776374 | |||
| chr7:6776401 | T | C | 11 | a0001c0008 a0002c0005 a0002c0006 others(8): Show |
43 | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(40): Show |
synonymous_variant | LOW | c.1269T>C | p.Ile423Ile | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/21 | 1546/3112 | 1269/2613 | 423/870 | chr7 | 6776401 | |||
| chr7:6779698 | G | A | 3 | a0002c0006 a0003c0007 a0003c0015 |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
synonymous_variant | LOW | c.1503G>A | p.Ala501Ala | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/21 | 1780/3112 | 1503/2613 | 501/870 | chr7 | 6779698 | |||
| chr7:6780878 | C | T | 1 | a0015c0013 | 1 | NA20300.hp2 | synonymous_variant | LOW | c.1599C>T | p.Cys533Cys | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/21 | 1876/3112 | 1599/2613 | 533/870 | chr7 | 6780878 | |||
| chr7:6781419 | T | C | 18 | a0001c0024 a0002c0005 a0002c0006 others(15): Show |
50 | HG00438.hp1 HG00642.hp1 HG00741.hp1 others(47): Show |
synonymous_variant | LOW | c.1701T>C | p.Ser567Ser | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/21 | 1978/3112 | 1701/2613 | 567/870 | chr7 | 6781419 | |||
| chr7:6786880 | G | T | 2 | a0002c0027 a0010c0028 |
2 | HG02818.hp2 HG02895.hp1 |
splice_region_variant&synonymous_variant | LOW | c.1869G>T | p.Leu623Leu | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/21 | 2146/3112 | 1869/2613 | 623/870 | chr7 | 6786880 | |||
| chr7:6791975 | C | T | 1 | a0002c0025 | 1 | HG01884.hp1 | synonymous_variant | LOW | c.2211C>T | p.Ile737Ile | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/21 | 2488/3112 | 2211/2613 | 737/870 | chr7 | 6791975 | |||
| chr7:6798375 | T | C | 20 | a0001c0026 a0002c0002 a0002c0005 others(17): Show |
65 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(62): Show |
synonymous_variant | LOW | c.2445T>C | p.Phe815Phe | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 21/21 | 2722/3112 | 2445/2613 | 815/870 | chr7 | 6798375 | |||
| chr7:6798480 | C | G | 2 | a0002c0027 a0010c0028 |
2 | HG02818.hp2 HG02895.hp1 |
synonymous_variant | LOW | c.2550C>G | p.Pro850Pro | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 21/21 | 2827/3112 | 2550/2613 | 850/870 | chr7 | 6798480 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:6754141 | G | T | 6 | a0001c0001t0003 a0002c0029t0004 a0003c0004t0004 others(3): Show |
11 | HG00438.hp1 HG00642.hp2 HG01433.hp1 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-239G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/21 | 3537 | chr7 | 6754141 | ||||||
| chr7:6798541 | TAGAG | T | 2 | a0002c0027t0005 a0010c0028t0005 |
2 | HG02818.hp2 HG02895.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2_*5delGAGA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 21/21 | 2 | INFO_REALIGN_3_PRIME | chr7 | 6798541 | |||||
| chr7:6798577 | G | A | 1 | a0001c0024t0006 | 1 | HG02809.hp1 | 3_prime_UTR_variant | MODIFIER | c.*34G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 21/21 | 34 | chr7 | 6798577 | ||||||
| chr7:6798587 | G | GT | 2 | a0002c0027t0005 a0010c0028t0005 |
2 | HG02818.hp2 HG02895.hp1 |
3_prime_UTR_variant | MODIFIER | c.*45dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 21/21 | 46 | INFO_REALIGN_3_PRIME | chr7 | 6798587 | |||||
| chr7:6798597 | C | T | 2 | a0002c0027t0005 a0010c0028t0005 |
2 | HG02818.hp2 HG02895.hp1 |
3_prime_UTR_variant | MODIFIER | c.*54C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 21/21 | 54 | chr7 | 6798597 | ||||||
| chr7:6798725 | ACC | A | 21 | a0002c0002t0001 a0002c0005t0001 a0002c0006t0001 others(18): Show |
62 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(59): Show |
3_prime_UTR_variant | MODIFIER | c.*188_*189delCC | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 21/21 | 188 | INFO_REALIGN_3_PRIME | chr7 | 6798725 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:6754201 | C | G | 21 | a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 others(18): Show |
21 | HG00438.hp1 HG00642.hp2 HG01256.hp1 others(18): Show |
intron_variant | MODIFIER | c.-206+27C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754201 | |||||||
| chr7:6754217 | A | G | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-206+43A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754217 | |||||||
| chr7:6754337 | T | C | 21 | a0001c0001t0002g0006 a0001c0001t0003g0093 a0001c0001t0003g0094 others(18): Show |
21 | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(18): Show |
intron_variant | MODIFIER | c.-206+163T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754337 | |||||||
| chr7:6754410 | G | A | 3 | a0004c0003t0001g0008 a0004c0003t0001g0009 a0004c0003t0001g0010 |
3 | HG02071.hp1 HG02135.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.-206+236G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754410 | |||||||
| chr7:6754510 | G | A | 1 | a0002c0002t0001g0011 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.-206+336G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754510 | |||||||
| chr7:6754598 | C | A | 18 | a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0097 others(15): Show |
18 | HG00438.hp1 HG00642.hp2 HG01433.hp1 others(15): Show |
intron_variant | MODIFIER | c.-206+424C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754598 | |||||||
| chr7:6754605 | G | C | 1 | a0015c0013t0001g0099 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-206+431G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754605 | |||||||
| chr7:6754619 | G | C | 2 | a0010c0028t0005g0005 a0015c0013t0001g0099 |
2 | HG02895.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-206+445G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754619 | |||||||
| chr7:6754722 | G | T | 4 | a0003c0004t0001g0001 a0003c0004t0001g0002 a0003c0004t0001g0003 others(1): Show |
4 | HG02148.hp2 HG02895.hp2 NA18942.hp2 others(1): Show |
intron_variant | MODIFIER | c.-206+548G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754722 | |||||||
| chr7:6754748 | C | G | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.-206+574C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754748 | |||||||
| chr7:6754749 | G | C | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.-206+575G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754749 | |||||||
| chr7:6754825 | G | A | 21 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0005t0001g0022 others(18): Show |
21 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(18): Show |
intron_variant | MODIFIER | c.-206+651G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6754825 | |||||||
| chr7:6755114 | A | G | 1 | a0010c0028t0005g0005 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-206+940A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755114 | |||||||
| chr7:6755217 | C | CTT | 17 | a0001c0001t0002g0087 a0002c0005t0001g0022 a0002c0005t0001g0023 others(14): Show |
17 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(14): Show |
intron_variant | MODIFIER | c.-206+1043_-206+104 others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755217 | |||||||
| chr7:6755218 | C | T | 17 | a0001c0001t0002g0087 a0002c0005t0001g0022 a0002c0005t0001g0023 others(14): Show |
17 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(14): Show |
intron_variant | MODIFIER | c.-206+1044C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755218 | |||||||
| chr7:6755521 | C | T | 1 | a0003c0004t0001g0004 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-206+1347C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755521 | |||||||
| chr7:6755614 | C | CA | 17 | a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0033 others(14): Show |
17 | HG00642.hp2 HG01071.hp1 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.-206+1471dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755614 | ||||||
| chr7:6755614 | C | CAAAAA | 4 | a0003c0004t0001g0001 a0003c0004t0001g0103 a0005c0009t0002g0030 others(1): Show |
4 | HG02148.hp2 HG02647.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.-206+1467_-206+147 others(9): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755614 | ||||||
| chr7:6755614 | CA | C | 12 | a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 others(9): Show |
12 | HG00438.hp1 HG00438.hp2 HG02074.hp1 others(9): Show |
intron_variant | MODIFIER | c.-206+1471delA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755614 | ||||||
| chr7:6755614 | CAA | C | 6 | a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0101 others(3): Show |
6 | HG01891.hp1 HG02015.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.-206+1470_-206+147 others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755614 | ||||||
| chr7:6755614 | CAAAAAAA others(3): Show |
C | 1 | a0014c0017t0002g0084 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-206+1462_-206+147 others(14): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755614 | ||||||
| chr7:6755614 | CAAAAAAA others(4): Show |
C | 3 | a0003c0004t0001g0002 a0003c0004t0001g0004 a0009c0023t0002g0085 |
3 | HG02647.hp2 NA18942.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.-206+1461_-206+147 others(15): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755614 | ||||||
| chr7:6755614 | CAAAAAAA others(5): Show |
C | 2 | a0001c0001t0002g0086 a0003c0004t0001g0003 |
2 | HG02895.hp2 NA18961.hp2 |
intron_variant | MODIFIER | c.-206+1460_-206+147 others(16): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755614 | ||||||
| chr7:6755614 | CAAAAAAA others(7): Show |
C | 17 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(14): Show |
17 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(14): Show |
intron_variant | MODIFIER | c.-206+1458_-206+147 others(18): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755614 | ||||||
| chr7:6755679 | T | A | 11 | a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0097 others(8): Show |
11 | HG00438.hp1 HG01891.hp1 HG02015.hp1 others(8): Show |
intron_variant | MODIFIER | c.-206+1505T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755679 | |||||||
| chr7:6755693 | GGGAGGCC others(327): Show |
G | 1 | a0002c0006t0001g0044 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-206+1554_-205-129 others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755693 | ||||||
| chr7:6755704 | G | A | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-206+1530G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755704 | |||||||
| chr7:6755719 | G | T | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-206+1545G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755719 | |||||||
| chr7:6755869 | GCAGTGAG others(1): Show |
G | 9 | a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0097 others(6): Show |
9 | HG00438.hp1 HG01433.hp1 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.-205-1477_-205-147 others(12): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755869 | ||||||
| chr7:6755914 | C | A | 14 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(11): Show |
14 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(11): Show |
intron_variant | MODIFIER | c.-205-1443C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755914 | |||||||
| chr7:6755932 | T | C | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-205-1425T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755932 | |||||||
| chr7:6755938 | T | TA | 7 | a0001c0001t0002g0047 a0001c0001t0002g0106 a0001c0001t0003g0094 others(4): Show |
7 | HG00642.hp2 HG01978.hp1 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.-205-1401dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755938 | ||||||
| chr7:6755938 | T | TAA | 16 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(13): Show |
16 | HG01167.hp2 HG01261.hp1 HG01517.hp1 others(13): Show |
intron_variant | MODIFIER | c.-205-1402_-205-140 others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755938 | ||||||
| chr7:6755938 | TA | T | 9 | a0001c0001t0002g0033 a0001c0001t0003g0098 a0001c0008t0002g0045 others(6): Show |
9 | HG01433.hp1 HG01517.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.-205-1401delA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755938 | ||||||
| chr7:6755938 | TAA | T | 6 | a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0101 others(3): Show |
6 | HG00438.hp1 HG01891.hp1 HG02015.hp1 others(3): Show |
intron_variant | MODIFIER | c.-205-1402_-205-140 others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6755938 | ||||||
| chr7:6755953 | A | C | 1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-205-1404A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755953 | |||||||
| chr7:6755956 | AC | A | 3 | a0001c0001t0002g0079 a0005c0018t0001g0072 a0010c0028t0005g0005 |
3 | HG01243.hp1 HG02886.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.-205-1400delC | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755956 | |||||||
| chr7:6755957 | C | A | 4 | a0003c0007t0001g0077 a0003c0020t0001g0065 a0006c0010t0001g0034 others(1): Show |
4 | HG01891.hp2 HG02622.hp2 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.-205-1400C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755957 | |||||||
| chr7:6755970 | C | T | 16 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(13): Show |
16 | HG01167.hp2 HG01261.hp1 HG01517.hp1 others(13): Show |
intron_variant | MODIFIER | c.-205-1387C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6755970 | |||||||
| chr7:6756002 | A | G | 10 | a0001c0001t0002g0035 a0001c0008t0002g0081 a0002c0002t0001g0039 others(7): Show |
10 | HG00438.hp1 HG00438.hp2 HG01978.hp2 others(7): Show |
intron_variant | MODIFIER | c.-205-1355A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756002 | |||||||
| chr7:6756044 | A | G | 2 | a0002c0006t0001g0042 a0002c0006t0001g0074 |
2 | NA18968.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.-205-1313A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756044 | |||||||
| chr7:6756064 | C | T | 23 | a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0073 others(20): Show |
23 | HG00642.hp1 HG01071.hp1 HG01243.hp1 others(20): Show |
intron_variant | MODIFIER | c.-205-1293C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756064 | |||||||
| chr7:6756072 | T | C | 1 | a0007c0022t0002g0007 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-205-1285T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756072 | |||||||
| chr7:6756132 | T | C | 1 | a0001c0008t0002g0045 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-205-1225T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756132 | |||||||
| chr7:6756135 | T | G | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-205-1222T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756135 | |||||||
| chr7:6756138 | T | C | 15 | a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0046 others(12): Show |
15 | HG00642.hp2 HG01261.hp2 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.-205-1219T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756138 | |||||||
| chr7:6756142 | T | C | 8 | a0001c0001t0002g0075 a0001c0001t0003g0093 a0001c0001t0003g0097 others(5): Show |
8 | HG00741.hp1 HG01891.hp1 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.-205-1215T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756142 | |||||||
| chr7:6756154 | C | T | 75 | a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0035 others(72): Show |
75 | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(72): Show |
intron_variant | MODIFIER | c.-205-1203C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756154 | |||||||
| chr7:6756158 | T | A | 1 | a0002c0012t0002g0105 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-205-1199T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756158 | |||||||
| chr7:6756201 | T | C | 1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-205-1156T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756201 | |||||||
| chr7:6756264 | C | T | 1 | a0002c0005t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-205-1093C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756264 | |||||||
| chr7:6756271 | A | AAAAT | 11 | a0001c0001t0002g0038 a0001c0001t0002g0073 a0002c0002t0001g0039 others(8): Show |
11 | HG01978.hp2 HG02148.hp2 HG03239.hp2 others(8): Show |
intron_variant | MODIFIER | c.-205-1066_-205-106 others(8): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6756271 | ||||||
| chr7:6756271 | A | AAAATAAA others(9): Show |
1 | a0003c0007t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-205-1078_-205-106 others(20): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6756271 | ||||||
| chr7:6756396 | G | GT | 4 | a0003c0004t0001g0048 a0003c0007t0004g0092 a0003c0015t0001g0056 others(1): Show |
4 | HG00438.hp1 HG01071.hp2 HG02135.hp1 others(1): Show |
intron_variant | MODIFIER | c.-205-953dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | 6756396 | ||||||
| chr7:6756401 | T | G | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-205-956T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756401 | |||||||
| chr7:6756432 | G | A | 1 | a0003c0004t0001g0002 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-205-925G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756432 | |||||||
| chr7:6756435 | A | G | 2 | a0001c0001t0002g0054 a0001c0001t0002g0055 |
2 | HG01167.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.-205-922A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756435 | |||||||
| chr7:6756600 | G | C | 2 | a0006c0010t0001g0034 a0006c0010t0001g0083 |
2 | HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-205-757G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756600 | |||||||
| chr7:6756621 | C | T | 3 | a0002c0005t0001g0043 a0003c0004t0001g0002 a0005c0019t0001g0012 |
3 | HG02647.hp1 HG02922.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.-205-736C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756621 | |||||||
| chr7:6756710 | T | C | 12 | a0002c0029t0004g0095 a0003c0004t0001g0001 a0003c0004t0001g0004 others(9): Show |
12 | HG01433.hp1 HG02015.hp1 HG02148.hp2 others(9): Show |
intron_variant | MODIFIER | c.-205-647T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756710 | |||||||
| chr7:6756911 | G | T | 11 | a0002c0029t0004g0095 a0003c0004t0004g0096 a0003c0007t0001g0077 others(8): Show |
11 | HG01243.hp1 HG01433.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-205-446G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6756911 | |||||||
| chr7:6757214 | A | T | 5 | a0003c0004t0001g0002 a0003c0020t0001g0065 a0005c0018t0001g0072 others(2): Show |
5 | HG01243.hp1 HG01891.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.-205-143A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | chr7 | 6757214 | |||||||
| chr7:6757550 | A | G | 19 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(16): Show |
19 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(16): Show |
intron_variant | MODIFIER | c.-85-43A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 2/20 | chr7 | 6757550 | |||||||
| chr7:6757565 | G | A | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-85-28G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 2/20 | chr7 | 6757565 | |||||||
| chr7:6757591 | A | G | 1 | a0002c0005t0001g0082 | 1 | HG03239.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.-85-2A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 2/20 | chr7 | 6757591 | |||||||
| chr7:6757994 | T | C | 2 | a0003c0004t0001g0003 a0013c0016t0007g0100 |
2 | HG02895.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.254+63T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6757994 | |||||||
| chr7:6758259 | C | T | 2 | a0005c0009t0003g0090 a0014c0017t0002g0084 |
2 | HG02970.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.254+328C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758259 | |||||||
| chr7:6758388 | T | TA | 19 | a0001c0024t0006g0014 a0002c0027t0005g0013 a0002c0029t0004g0095 others(16): Show |
19 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.254+458dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758388 | ||||||
| chr7:6758616 | G | A | 1 | a0013c0016t0007g0100 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.255-468G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758616 | |||||||
| chr7:6758884 | G | A | 1 | a0007c0022t0002g0007 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.255-200G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758884 | |||||||
| chr7:6758888 | T | C | 18 | a0001c0024t0006g0014 a0002c0005t0001g0043 a0002c0027t0005g0013 others(15): Show |
18 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.255-196T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758888 | |||||||
| chr7:6758909 | T | C | 5 | a0003c0004t0001g0002 a0003c0020t0001g0065 a0005c0018t0001g0072 others(2): Show |
5 | HG01243.hp1 HG01891.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.255-175T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758909 | |||||||
| chr7:6758949 | G | GTA | 2 | a0001c0001t0002g0075 a0001c0001t0003g0094 |
2 | NA19030.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.255-115_255-114dup others(2): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758949 | ||||||
| chr7:6758949 | GTA | G | 3 | a0003c0020t0001g0065 a0005c0018t0001g0072 a0013c0016t0007g0100 |
3 | HG01243.hp1 HG01891.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.255-115_255-114del others(2): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758949 | ||||||
| chr7:6758949 | GTATATA | G | 2 | a0003c0007t0001g0077 a0003c0007t0004g0091 |
2 | HG01433.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.255-119_255-114del others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758949 | ||||||
| chr7:6758965 | ATATATTT | A | 5 | a0003c0004t0001g0048 a0003c0007t0004g0092 a0003c0015t0001g0056 others(2): Show |
5 | HG00438.hp1 HG01071.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.255-117_255-111del others(7): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758965 | ||||||
| chr7:6758967 | A | AT | 3 | a0001c0001t0002g0047 a0002c0012t0002g0021 a0002c0012t0002g0105 |
3 | HG01167.hp2 HG03704.hp2 NA18965.hp2 |
intron_variant | MODIFIER | c.255-116dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758967 | ||||||
| chr7:6758968 | TA | T | 7 | a0003c0004t0001g0001 a0003c0004t0001g0102 a0003c0004t0001g0103 others(4): Show |
7 | HG01517.hp1 HG02148.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.255-115delA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758968 | |||||||
| chr7:6758969 | A | AT | 4 | a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0087 others(1): Show |
4 | HG01981.hp2 HG02074.hp2 NA18968.hp1 others(1): Show |
intron_variant | MODIFIER | c.255-103dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758969 | ||||||
| chr7:6758969 | A | T | 11 | a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0054 others(8): Show |
11 | HG00741.hp2 HG01167.hp1 HG01167.hp2 others(8): Show |
intron_variant | MODIFIER | c.255-115A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758969 | |||||||
| chr7:6758969 | AT | A | 15 | a0001c0001t0002g0031 a0002c0005t0001g0023 a0002c0005t0001g0029 others(12): Show |
15 | HG00642.hp2 HG00741.hp1 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.255-103delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758969 | ||||||
| chr7:6758969 | ATT | A | 4 | a0002c0005t0001g0022 a0003c0004t0001g0002 a0006c0010t0001g0034 others(1): Show |
4 | HG03688.hp1 HG03704.hp1 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.255-104_255-103del others(2): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | 6758969 | ||||||
| chr7:6758970 | T | TA | 12 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0060 others(9): Show |
12 | HG02071.hp1 HG02071.hp2 HG02135.hp2 others(9): Show |
intron_variant | MODIFIER | c.255-114_255-113ins others(1): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758970 | |||||||
| chr7:6758971 | T | A | 11 | a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0002g0079 others(8): Show |
11 | HG01243.hp2 HG02074.hp1 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.255-113T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758971 | |||||||
| chr7:6758973 | T | A | 2 | a0002c0002t0002g0057 a0002c0002t0002g0058 |
2 | HG01243.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.255-111T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 3/20 | chr7 | 6758973 | |||||||
| chr7:6759265 | G | A | 1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.330+106G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759265 | |||||||
| chr7:6759538 | A | AT | 19 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(16): Show |
19 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(16): Show |
intron_variant | MODIFIER | c.330+398dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr7 | 6759538 | ||||||
| chr7:6759541 | T | TA | 5 | a0002c0029t0004g0095 a0003c0004t0004g0096 a0003c0007t0001g0077 others(2): Show |
5 | HG00438.hp1 HG01433.hp1 HG02015.hp1 others(2): Show |
intron_variant | MODIFIER | c.330+382_330+383ins others(1): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759541 | |||||||
| chr7:6759542 | T | A | 11 | a0002c0027t0005g0013 a0002c0029t0004g0095 a0003c0004t0001g0048 others(8): Show |
11 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.330+383T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759542 | |||||||
| chr7:6759543 | T | A | 6 | a0002c0027t0005g0013 a0003c0004t0001g0048 a0003c0015t0001g0056 others(3): Show |
6 | HG01071.hp2 HG01243.hp1 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.330+384T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759543 | |||||||
| chr7:6759579 | C | T | 2 | a0003c0004t0001g0048 a0003c0015t0001g0056 |
2 | HG01071.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.330+420C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759579 | |||||||
| chr7:6759580 | G | A | 2 | a0006c0010t0001g0034 a0006c0010t0001g0083 |
2 | HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.330+421G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759580 | |||||||
| chr7:6759658 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.330+499G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759658 | |||||||
| chr7:6759752 | G | T | 2 | a0002c0002t0002g0057 a0002c0002t0002g0058 |
2 | HG01243.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.331-474G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759752 | |||||||
| chr7:6759815 | T | C | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.331-411T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759815 | |||||||
| chr7:6759846 | G | A | 1 | a0008c0021t0003g0088 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.331-380G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759846 | |||||||
| chr7:6759981 | G | A | 44 | a0001c0024t0006g0014 a0002c0005t0001g0022 a0002c0005t0001g0023 others(41): Show |
44 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(41): Show |
intron_variant | MODIFIER | c.331-245G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 4/20 | chr7 | 6759981 | |||||||
| chr7:6760304 | A | G | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.399+10A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6760304 | |||||||
| chr7:6760525 | C | T | 18 | a0001c0001t0002g0031 a0002c0005t0001g0022 a0002c0005t0001g0023 others(15): Show |
18 | HG00741.hp1 HG01261.hp1 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.399+231C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6760525 | |||||||
| chr7:6760528 | A | G | 48 | a0001c0001t0002g0031 a0001c0024t0006g0014 a0002c0005t0001g0022 others(45): Show |
48 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(45): Show |
intron_variant | MODIFIER | c.399+234A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6760528 | |||||||
| chr7:6760697 | CTTAG | C | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.399+413_399+416del others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6760697 | ||||||
| chr7:6760801 | C | T | 2 | a0003c0004t0001g0048 a0003c0015t0001g0056 |
2 | HG01071.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.399+507C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6760801 | |||||||
| chr7:6760815 | T | C | 49 | a0001c0001t0002g0067 a0001c0024t0006g0014 a0002c0002t0001g0032 others(46): Show |
49 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(46): Show |
intron_variant | MODIFIER | c.399+521T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6760815 | |||||||
| chr7:6760876 | C | CT | 20 | a0001c0024t0006g0014 a0002c0002t0001g0064 a0002c0005t0001g0029 others(17): Show |
20 | HG00642.hp2 HG00741.hp1 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.399+599dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6760876 | ||||||
| chr7:6761283 | G | A | 1 | a0002c0006t0001g0044 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.399+989G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761283 | |||||||
| chr7:6761291 | A | G | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.399+997A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761291 | |||||||
| chr7:6761303 | A | G | 1 | a0013c0016t0007g0100 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.399+1009A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761303 | |||||||
| chr7:6761386 | T | C | 2 | a0003c0004t0001g0002 a0004c0003t0001g0018 |
2 | HG01517.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.399+1092T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761386 | |||||||
| chr7:6761426 | G | A | 17 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(14): Show |
17 | HG00741.hp1 HG01261.hp1 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.399+1132G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761426 | |||||||
| chr7:6761431 | A | T | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.399+1137A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761431 | |||||||
| chr7:6761448 | A | G | 45 | a0001c0024t0006g0014 a0002c0002t0001g0032 a0002c0005t0001g0022 others(42): Show |
45 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.399+1154A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761448 | |||||||
| chr7:6761485 | G | A | 5 | a0002c0005t0001g0043 a0003c0004t0001g0002 a0004c0003t0001g0018 others(2): Show |
5 | HG01517.hp1 HG02922.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.399+1191G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761485 | |||||||
| chr7:6761633 | C | G | 1 | a0008c0021t0003g0088 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.399+1339C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761633 | |||||||
| chr7:6761659 | A | C | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.399+1365A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761659 | |||||||
| chr7:6761661 | C | T | 2 | a0002c0006t0001g0042 a0002c0006t0001g0074 |
2 | NA18968.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.399+1367C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761661 | |||||||
| chr7:6761691 | G | T | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.399+1397G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761691 | |||||||
| chr7:6761796 | C | T | 1 | a0002c0005t0001g0070 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.399+1502C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761796 | |||||||
| chr7:6761864 | C | T | 1 | a0013c0016t0007g0100 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.399+1570C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761864 | |||||||
| chr7:6761877 | T | C | 1 | a0003c0004t0001g0004 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.399+1583T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761877 | |||||||
| chr7:6761922 | T | C | 4 | a0003c0020t0001g0065 a0005c0018t0001g0072 a0006c0010t0001g0034 others(1): Show |
4 | HG01243.hp1 HG01891.hp2 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.399+1628T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761922 | |||||||
| chr7:6761944 | G | C | 1 | a0001c0001t0002g0038 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.399+1650G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761944 | |||||||
| chr7:6761945 | G | C | 1 | a0001c0001t0002g0060 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.399+1651G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761945 | |||||||
| chr7:6761984 | G | C | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.399+1690G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761984 | |||||||
| chr7:6761985 | C | G | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.399+1691C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6761985 | |||||||
| chr7:6762029 | A | T | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.399+1735A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762029 | |||||||
| chr7:6762220 | TGGCAGGT others(8): Show |
T | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.400-1701_400-1687d others(17): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6762220 | ||||||
| chr7:6762340 | T | G | 2 | a0003c0004t0001g0002 a0004c0003t0001g0018 |
2 | HG01517.hp1 NA18942.hp2 |
intron_variant | MODIFIER | c.400-1588T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762340 | |||||||
| chr7:6762593 | A | G | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.400-1335A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762593 | |||||||
| chr7:6762632 | CT | C | 11 | a0001c0024t0006g0014 a0002c0027t0005g0013 a0003c0004t0001g0048 others(8): Show |
11 | HG01071.hp2 HG02135.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.400-1294delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6762632 | ||||||
| chr7:6762671 | AT | A | 4 | a0002c0005t0001g0029 a0003c0004t0001g0003 a0003c0007t0004g0092 others(1): Show |
4 | HG00438.hp1 HG01891.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.400-1247delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6762671 | ||||||
| chr7:6762689 | GAC | G | 2 | a0006c0010t0001g0034 a0006c0010t0001g0083 |
2 | HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.400-1237_400-1236d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6762689 | ||||||
| chr7:6762695 | A | T | 4 | a0003c0020t0001g0065 a0005c0018t0001g0072 a0006c0010t0001g0034 others(1): Show |
4 | HG01243.hp1 HG01891.hp2 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.400-1233A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762695 | |||||||
| chr7:6762707 | C | T | 2 | a0003c0004t0001g0048 a0003c0015t0001g0056 |
2 | HG01071.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.400-1221C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762707 | |||||||
| chr7:6762733 | A | G | 1 | a0002c0002t0001g0032 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.400-1195A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762733 | |||||||
| chr7:6762778 | G | A | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.400-1150G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762778 | |||||||
| chr7:6762909 | G | C | 1 | a0002c0006t0001g0078 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.400-1019G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762909 | |||||||
| chr7:6762993 | C | A | 1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.400-935C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6762993 | |||||||
| chr7:6763105 | CA | C | 6 | a0003c0007t0004g0092 a0004c0003t0001g0028 a0005c0009t0003g0090 others(3): Show |
6 | HG00438.hp1 HG02922.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.400-816delA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6763105 | ||||||
| chr7:6763114 | A | C | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.400-814A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763114 | |||||||
| chr7:6763151 | T | G | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.400-777T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763151 | |||||||
| chr7:6763176 | T | A | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.400-752T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763176 | |||||||
| chr7:6763262 | C | T | 2 | a0006c0010t0001g0034 a0006c0010t0001g0083 |
2 | HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.400-666C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763262 | |||||||
| chr7:6763274 | A | G | 22 | a0001c0024t0006g0014 a0002c0005t0001g0022 a0002c0005t0001g0023 others(19): Show |
22 | HG00741.hp1 HG01071.hp2 HG01261.hp1 others(19): Show |
intron_variant | MODIFIER | c.400-654A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763274 | |||||||
| chr7:6763373 | AG | A | 2 | a0003c0007t0004g0092 a0003c0020t0001g0065 |
2 | HG00438.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.400-553delG | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6763373 | ||||||
| chr7:6763452 | A | AAAAC | 48 | a0001c0024t0006g0014 a0002c0002t0001g0032 a0002c0005t0001g0022 others(45): Show |
48 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(45): Show |
intron_variant | MODIFIER | c.400-473_400-472ins others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr7 | 6763452 | ||||||
| chr7:6763515 | G | A | 1 | a0010c0028t0005g0005 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.400-413G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763515 | |||||||
| chr7:6763533 | C | T | 1 | a0002c0002t0001g0011 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.400-395C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763533 | |||||||
| chr7:6763648 | A | G | 52 | a0001c0008t0002g0045 a0001c0024t0006g0014 a0002c0002t0001g0032 others(49): Show |
52 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(49): Show |
intron_variant | MODIFIER | c.400-280A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763648 | |||||||
| chr7:6763670 | C | G | 7 | a0001c0024t0006g0014 a0002c0011t0001g0041 a0002c0027t0005g0013 others(4): Show |
7 | HG01071.hp2 HG02135.hp1 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.400-258C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763670 | |||||||
| chr7:6763673 | G | A | 2 | a0001c0008t0002g0045 a0008c0021t0003g0088 |
2 | HG00642.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.400-255G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763673 | |||||||
| chr7:6763728 | C | T | 1 | a0002c0011t0001g0069 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.400-200C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763728 | |||||||
| chr7:6763854 | G | A | 1 | a0014c0017t0002g0084 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.400-74G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763854 | |||||||
| chr7:6763875 | C | T | 1 | a0001c0001t0002g0068 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.400-53C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763875 | |||||||
| chr7:6763892 | G | A | 3 | a0002c0011t0001g0041 a0003c0004t0001g0048 a0003c0015t0001g0056 |
3 | HG01071.hp2 HG02135.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.400-36G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 5/20 | chr7 | 6763892 | |||||||
| chr7:6764118 | CGTGGAGG others(104): Show |
C | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.573+30_573+140del | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | 6764118 | ||||||
| chr7:6764155 | C | T | 3 | a0003c0004t0001g0004 a0003c0004t0001g0048 a0003c0015t0001g0056 |
3 | HG01071.hp2 HG02135.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.573+54C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764155 | |||||||
| chr7:6764202 | G | A | 3 | a0003c0004t0001g0004 a0003c0004t0001g0048 a0003c0015t0001g0056 |
3 | HG01071.hp2 HG02135.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.573+101G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764202 | |||||||
| chr7:6764250 | T | C | 3 | a0003c0004t0001g0003 a0003c0020t0001g0065 a0005c0009t0003g0090 |
3 | HG01891.hp2 HG02895.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.573+149T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764250 | |||||||
| chr7:6764303 | G | C | 30 | a0001c0001t0002g0067 a0001c0001t0002g0087 a0001c0001t0002g0106 others(27): Show |
30 | HG00741.hp1 HG01071.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.573+202G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764303 | |||||||
| chr7:6764358 | T | C | 10 | a0001c0024t0006g0014 a0002c0002t0001g0064 a0002c0006t0001g0074 others(7): Show |
10 | HG01243.hp1 HG01891.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.573+257T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764358 | |||||||
| chr7:6764365 | A | AT | 23 | a0001c0001t0002g0106 a0002c0002t0001g0032 a0002c0005t0001g0015 others(20): Show |
23 | HG01433.hp1 HG01978.hp1 HG02074.hp1 others(20): Show |
intron_variant | MODIFIER | c.573+277dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | 6764365 | ||||||
| chr7:6764408 | G | T | 10 | a0001c0001t0002g0104 a0001c0001t0002g0107 a0002c0005t0001g0015 others(7): Show |
10 | HG01256.hp1 HG02922.hp2 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.573+307G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764408 | |||||||
| chr7:6764442 | C | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.573+341C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764442 | |||||||
| chr7:6764641 | G | A | 1 | a0001c0001t0003g0093 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.573+540G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764641 | |||||||
| chr7:6764708 | T | TG | 2 | a0003c0007t0004g0092 a0004c0003t0001g0008 |
2 | HG00438.hp1 NA18979.hp2 |
intron_variant | MODIFIER | c.573+607_573+608ins others(1): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764708 | |||||||
| chr7:6764708 | T | TGTG | 4 | a0002c0002t0001g0032 a0002c0006t0001g0044 a0003c0007t0001g0077 others(1): Show |
4 | HG01433.hp1 HG02602.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.573+607_573+608ins others(3): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764708 | |||||||
| chr7:6764708 | T | TTG | 3 | a0001c0001t0002g0086 a0002c0005t0001g0043 a0002c0005t0001g0082 |
3 | HG02922.hp1 HG03239.hp1 NA18961.hp2 |
intron_variant | MODIFIER | c.573+637_573+638dup others(2): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | 6764708 | ||||||
| chr7:6764708 | T | TTGTG | 16 | a0002c0002t0001g0066 a0002c0005t0001g0022 a0002c0005t0001g0070 others(13): Show |
16 | HG01517.hp1 HG01884.hp2 HG01981.hp1 others(13): Show |
intron_variant | MODIFIER | c.573+635_573+638dup others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | 6764708 | ||||||
| chr7:6764708 | T | TTGTGTG | 2 | a0004c0003t0001g0017 a0004c0003t0001g0024 |
2 | HG00741.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.573+633_573+638dup others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | 6764708 | ||||||
| chr7:6764708 | T | TTGTGTGT others(3): Show |
1 | a0002c0005t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.573+629_573+638dup others(10): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | 6764708 | ||||||
| chr7:6764708 | TTG | T | 14 | a0002c0006t0001g0042 a0002c0006t0001g0074 a0002c0011t0001g0041 others(11): Show |
14 | HG02135.hp1 HG02148.hp2 HG02735.hp1 others(11): Show |
intron_variant | MODIFIER | c.573+637_573+638del others(2): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | 6764708 | ||||||
| chr7:6764708 | TTGTG | T | 4 | a0001c0001t0002g0047 a0002c0027t0005g0013 a0003c0020t0001g0065 others(1): Show |
4 | HG01243.hp1 HG01891.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.573+635_573+638del others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | 6764708 | ||||||
| chr7:6764999 | G | A | 47 | a0001c0024t0006g0014 a0002c0005t0001g0022 a0002c0005t0001g0023 others(44): Show |
47 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(44): Show |
intron_variant | MODIFIER | c.574-707G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6764999 | |||||||
| chr7:6765012 | C | T | 3 | a0001c0001t0002g0079 a0001c0001t0003g0094 a0009c0023t0002g0085 |
3 | HG02647.hp2 HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.574-694C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765012 | |||||||
| chr7:6765036 | C | T | 2 | a0006c0010t0001g0034 a0006c0010t0001g0083 |
2 | HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.574-670C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765036 | |||||||
| chr7:6765252 | C | A | 1 | a0010c0028t0005g0005 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.574-454C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765252 | |||||||
| chr7:6765253 | A | C | 1 | a0010c0028t0005g0005 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.574-453A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765253 | |||||||
| chr7:6765255 | C | A | 1 | a0010c0028t0005g0005 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.574-451C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765255 | |||||||
| chr7:6765320 | C | T | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.574-386C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765320 | |||||||
| chr7:6765405 | C | T | 5 | a0003c0020t0001g0065 a0005c0018t0001g0072 a0005c0019t0001g0012 others(2): Show |
5 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.574-301C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765405 | |||||||
| chr7:6765424 | G | A | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.574-282G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765424 | |||||||
| chr7:6765436 | T | C | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.574-270T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765436 | |||||||
| chr7:6765547 | T | C | 1 | a0001c0001t0002g0080 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.574-159T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765547 | |||||||
| chr7:6765555 | G | A | 4 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(1): Show |
4 | HG01071.hp2 HG02602.hp2 NA18968.hp2 others(1): Show |
intron_variant | MODIFIER | c.574-151G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765555 | |||||||
| chr7:6765559 | A | G | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.574-147A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765559 | |||||||
| chr7:6765646 | T | C | 1 | a0002c0002t0002g0057 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.574-60T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 6/20 | chr7 | 6765646 | |||||||
| chr7:6765798 | A | G | 1 | a0004c0003t0001g0028 | 1 | HG04184.hp1 | splice_region_variant&intron_variant | LOW | c.659+7A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6765798 | |||||||
| chr7:6765806 | T | C | 43 | a0001c0001t0002g0051 a0001c0024t0006g0014 a0002c0005t0001g0022 others(40): Show |
43 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(40): Show |
intron_variant | MODIFIER | c.659+15T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6765806 | |||||||
| chr7:6765893 | T | C | 51 | a0001c0024t0006g0014 a0002c0005t0001g0022 a0002c0005t0001g0023 others(48): Show |
51 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(48): Show |
intron_variant | MODIFIER | c.659+102T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6765893 | |||||||
| chr7:6766062 | T | G | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.659+271T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6766062 | |||||||
| chr7:6766151 | C | T | 2 | a0011c0014t0001g0089 a0015c0013t0001g0099 |
2 | HG02922.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.659+360C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6766151 | |||||||
| chr7:6766154 | C | T | 2 | a0001c0001t0002g0104 a0001c0001t0002g0107 |
2 | HG01256.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.659+363C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6766154 | |||||||
| chr7:6766304 | A | G | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.660-453A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6766304 | |||||||
| chr7:6766370 | C | T | 1 | a0002c0012t0002g0021 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.660-387C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6766370 | |||||||
| chr7:6766428 | AT | A | 4 | a0002c0005t0001g0029 a0003c0007t0004g0091 a0011c0014t0001g0089 others(1): Show |
4 | HG01433.hp1 HG02922.hp2 NA18953.hp2 others(1): Show |
intron_variant | MODIFIER | c.660-318delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr7 | 6766428 | ||||||
| chr7:6766484 | T | G | 64 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(61): Show |
64 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.660-273T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6766484 | |||||||
| chr7:6766561 | C | T | 1 | a0003c0004t0001g0004 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.660-196C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6766561 | |||||||
| chr7:6766730 | G | A | 1 | a0010c0028t0005g0005 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.660-27G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 7/20 | chr7 | 6766730 | |||||||
| chr7:6766889 | C | CG | 3 | a0003c0007t0004g0092 a0005c0018t0001g0072 a0005c0019t0001g0012 |
3 | HG00438.hp1 HG01243.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.780+16dupG | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr7 | 6766889 | ||||||
| chr7:6766957 | G | GTTTTGT | 38 | a0001c0001t0002g0055 a0001c0024t0006g0014 a0002c0005t0001g0022 others(35): Show |
38 | HG00741.hp1 HG01071.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.780+96_780+101dupT others(5): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr7 | 6766957 | ||||||
| chr7:6766974 | G | A | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.780+97G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6766974 | |||||||
| chr7:6767218 | G | A | 1 | a0002c0005t0001g0070 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.780+341G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6767218 | |||||||
| chr7:6767279 | T | G | 22 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(19): Show |
22 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(19): Show |
intron_variant | MODIFIER | c.780+402T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6767279 | |||||||
| chr7:6767407 | A | T | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.780+530A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6767407 | |||||||
| chr7:6767728 | C | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.780+851C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6767728 | |||||||
| chr7:6767756 | A | AT | 12 | a0002c0005t0001g0015 a0002c0006t0001g0078 a0003c0004t0001g0001 others(9): Show |
12 | HG02074.hp1 HG02135.hp1 HG02148.hp2 others(9): Show |
intron_variant | MODIFIER | c.781-821dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr7 | 6767756 | ||||||
| chr7:6767756 | A | ATTT | 17 | a0002c0005t0001g0023 a0002c0005t0001g0043 a0002c0005t0001g0070 others(14): Show |
17 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(14): Show |
intron_variant | MODIFIER | c.781-823_781-821dup others(3): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr7 | 6767756 | ||||||
| chr7:6767756 | A | T | 1 | a0014c0017t0002g0084 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.781-834A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6767756 | |||||||
| chr7:6767810 | C | T | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.781-780C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6767810 | |||||||
| chr7:6767976 | G | A | 3 | a0002c0012t0002g0021 a0002c0012t0002g0105 a0013c0016t0007g0100 |
3 | HG01167.hp2 HG03704.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.781-614G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6767976 | |||||||
| chr7:6768058 | C | T | 2 | a0002c0025t0001g0108 a0003c0004t0001g0003 |
2 | HG01884.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.781-532C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6768058 | |||||||
| chr7:6768059 | T | G | 2 | a0002c0025t0001g0108 a0003c0004t0001g0003 |
2 | HG01884.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.781-531T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6768059 | |||||||
| chr7:6768092 | T | TGAGGTGG | 55 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0005t0001g0022 others(52): Show |
55 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(52): Show |
intron_variant | MODIFIER | c.781-494_781-493ins others(7): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr7 | 6768092 | ||||||
| chr7:6768218 | C | A | 1 | a0002c0012t0002g0021 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.781-372C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6768218 | |||||||
| chr7:6768256 | G | A | 9 | a0001c0024t0006g0014 a0002c0011t0001g0041 a0002c0027t0005g0013 others(6): Show |
9 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.781-334G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6768256 | |||||||
| chr7:6768399 | G | A | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.781-191G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6768399 | |||||||
| chr7:6768449 | T | A | 1 | a0003c0004t0001g0102 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.781-141T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | chr7 | 6768449 | |||||||
| chr7:6768807 | G | A | 2 | a0011c0014t0001g0089 a0015c0013t0001g0099 |
2 | HG02922.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.957+41G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6768807 | |||||||
| chr7:6768833 | A | C | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.957+67A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6768833 | |||||||
| chr7:6768965 | T | C | 1 | a0002c0002t0001g0039 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.957+199T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6768965 | |||||||
| chr7:6769006 | CT | C | 14 | a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0008t0002g0040 others(11): Show |
14 | HG00642.hp1 HG00741.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.957+256delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769006 | ||||||
| chr7:6769006 | CTT | C | 33 | a0002c0002t0001g0066 a0002c0005t0001g0015 a0002c0005t0001g0022 others(30): Show |
33 | HG00438.hp1 HG00741.hp1 HG01261.hp1 others(30): Show |
intron_variant | MODIFIER | c.957+255_957+256del others(2): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769006 | ||||||
| chr7:6769023 | G | A | 6 | a0001c0008t0002g0040 a0001c0008t0002g0045 a0002c0012t0002g0021 others(3): Show |
6 | HG00642.hp1 HG01071.hp1 HG01167.hp2 others(3): Show |
intron_variant | MODIFIER | c.957+257G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769023 | |||||||
| chr7:6769243 | G | A | 1 | a0002c0027t0005g0013 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.957+477G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769243 | |||||||
| chr7:6769292 | A | G | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.957+526A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769292 | |||||||
| chr7:6769297 | G | A | 30 | a0002c0002t0001g0066 a0002c0005t0001g0015 a0002c0005t0001g0022 others(27): Show |
30 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(27): Show |
intron_variant | MODIFIER | c.957+531G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769297 | |||||||
| chr7:6769355 | T | C | 1 | a0003c0004t0004g0096 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.957+589T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769355 | |||||||
| chr7:6769385 | T | C | 11 | a0002c0002t0001g0066 a0002c0005t0001g0015 a0003c0004t0001g0001 others(8): Show |
11 | HG02135.hp1 HG02148.hp2 HG02735.hp1 others(8): Show |
intron_variant | MODIFIER | c.957+619T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769385 | |||||||
| chr7:6769443 | T | G | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.957+677T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769443 | |||||||
| chr7:6769470 | G | A | 5 | a0003c0020t0001g0065 a0005c0018t0001g0072 a0005c0019t0001g0012 others(2): Show |
5 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.957+704G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769470 | |||||||
| chr7:6769514 | A | G | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.957+748A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769514 | |||||||
| chr7:6769536 | A | G | 1 | a0005c0009t0002g0030 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.957+770A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769536 | |||||||
| chr7:6769613 | G | C | 1 | a0002c0005t0001g0015 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.957+847G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769613 | |||||||
| chr7:6769658 | A | G | 47 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(44): Show |
47 | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(44): Show |
intron_variant | MODIFIER | c.957+892A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769658 | |||||||
| chr7:6769686 | A | G | 39 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0047 others(36): Show |
39 | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(36): Show |
intron_variant | MODIFIER | c.957+920A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769686 | |||||||
| chr7:6769754 | C | CT | 10 | a0001c0001t0002g0104 a0002c0002t0001g0036 a0002c0002t0001g0049 others(7): Show |
10 | HG00438.hp1 HG02015.hp1 HG02015.hp2 others(7): Show |
intron_variant | MODIFIER | c.957+1012dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTT | 7 | a0001c0008t0002g0040 a0001c0008t0002g0045 a0002c0012t0002g0021 others(4): Show |
7 | HG00642.hp1 HG01071.hp1 HG01167.hp2 others(4): Show |
intron_variant | MODIFIER | c.957+1010_957+1012d others(5): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTT | 15 | a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0060 others(12): Show |
15 | HG00642.hp2 HG01243.hp2 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.957+1009_957+1012d others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTT | 8 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(5): Show |
8 | HG02071.hp2 HG02818.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.957+1008_957+1012d others(7): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTTTT others(4): Show |
1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.957+1002_957+1012d others(13): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTTTT others(5): Show |
1 | a0010c0028t0005g0005 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.957+1001_957+1012d others(14): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTTTT others(6): Show |
2 | a0002c0011t0001g0041 a0002c0027t0005g0013 |
2 | HG02818.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.957+1000_957+1012d others(15): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTTTT others(7): Show |
1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.957+999_957+1012du others(15): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTTTT others(8): Show |
1 | a0006c0010t0001g0083 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.957+998_957+1012du others(16): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTTTT others(10): Show |
1 | a0006c0010t0001g0034 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.957+996_957+1012du others(18): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTTTT others(12): Show |
1 | a0005c0018t0001g0072 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.957+994_957+1012du others(20): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | C | CTTTTTTT others(21): Show |
1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.957+1012_957+1013i others(30): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769754 | CT | C | 17 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0043 others(14): Show |
17 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(14): Show |
intron_variant | MODIFIER | c.957+1012delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6769754 | ||||||
| chr7:6769913 | A | G | 4 | a0003c0020t0001g0065 a0005c0018t0001g0072 a0006c0010t0001g0034 others(1): Show |
4 | HG01243.hp1 HG01891.hp2 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.957+1147A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769913 | |||||||
| chr7:6769948 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.957+1182G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769948 | |||||||
| chr7:6769956 | G | A | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.957+1190G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6769956 | |||||||
| chr7:6770101 | C | T | 1 | a0001c0001t0003g0098 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.957+1335C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6770101 | |||||||
| chr7:6770444 | C | G | 15 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0008t0002g0040 others(12): Show |
15 | HG00642.hp1 HG01071.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.958-1103C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6770444 | |||||||
| chr7:6770599 | G | T | 6 | a0001c0008t0002g0040 a0001c0008t0002g0045 a0002c0012t0002g0021 others(3): Show |
6 | HG00642.hp1 HG01071.hp1 HG01167.hp2 others(3): Show |
intron_variant | MODIFIER | c.958-948G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6770599 | |||||||
| chr7:6770600 | C | G | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.958-947C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6770600 | |||||||
| chr7:6770608 | C | CA | 37 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(34): Show |
37 | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(34): Show |
intron_variant | MODIFIER | c.958-925dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6770608 | ||||||
| chr7:6770704 | G | C | 1 | a0003c0007t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.958-843G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6770704 | |||||||
| chr7:6770732 | T | C | 9 | a0001c0024t0006g0014 a0002c0011t0001g0041 a0002c0027t0005g0013 others(6): Show |
9 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.958-815T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6770732 | |||||||
| chr7:6770798 | A | G | 41 | a0001c0001t0002g0087 a0002c0005t0001g0015 a0002c0005t0001g0022 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.958-749A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6770798 | |||||||
| chr7:6771016 | T | C | 99 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0038 others(96): Show |
99 | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(96): Show |
intron_variant | MODIFIER | c.958-531T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771016 | |||||||
| chr7:6771115 | A | T | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.958-432A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771115 | |||||||
| chr7:6771127 | T | C | 1 | a0003c0007t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.958-420T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771127 | |||||||
| chr7:6771128 | C | A | 1 | a0003c0007t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.958-419C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771128 | |||||||
| chr7:6771166 | T | C | 41 | a0001c0001t0002g0087 a0002c0005t0001g0015 a0002c0005t0001g0022 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.958-381T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771166 | |||||||
| chr7:6771192 | C | CT | 13 | a0001c0024t0006g0014 a0002c0005t0001g0082 a0002c0011t0001g0041 others(10): Show |
13 | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.958-340dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | 6771192 | ||||||
| chr7:6771268 | C | T | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.958-279C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771268 | |||||||
| chr7:6771473 | T | A | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.958-74T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771473 | |||||||
| chr7:6771473 | T | C | 41 | a0001c0001t0002g0087 a0002c0005t0001g0015 a0002c0005t0001g0022 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.958-74T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771473 | |||||||
| chr7:6771480 | C | A | 32 | a0001c0001t0002g0087 a0002c0005t0001g0022 a0002c0005t0001g0023 others(29): Show |
32 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(29): Show |
intron_variant | MODIFIER | c.958-67C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771480 | |||||||
| chr7:6771490 | A | C | 10 | a0002c0005t0001g0015 a0002c0006t0001g0078 a0003c0004t0001g0001 others(7): Show |
10 | HG02074.hp1 HG02135.hp1 HG02148.hp2 others(7): Show |
intron_variant | MODIFIER | c.958-57A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771490 | |||||||
| chr7:6771545 | A | G | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | splice_acceptor_variant&intron_variant | HIGH | c.958-2A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | chr7 | 6771545 | |||||||
| chr7:6771725 | T | C | 24 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(21): Show |
24 | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.1102+34T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6771725 | |||||||
| chr7:6771798 | G | T | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1102+107G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6771798 | |||||||
| chr7:6771831 | A | T | 30 | a0001c0001t0002g0087 a0002c0005t0001g0022 a0002c0005t0001g0023 others(27): Show |
30 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(27): Show |
intron_variant | MODIFIER | c.1102+140A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6771831 | |||||||
| chr7:6771851 | A | T | 1 | a0002c0005t0001g0015 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1102+160A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6771851 | |||||||
| chr7:6771878 | A | G | 40 | a0001c0001t0002g0087 a0002c0005t0001g0015 a0002c0005t0001g0022 others(37): Show |
40 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.1102+187A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6771878 | |||||||
| chr7:6771882 | G | A | 3 | a0003c0007t0001g0077 a0003c0007t0004g0091 a0003c0007t0004g0092 |
3 | HG00438.hp1 HG01433.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.1102+191G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6771882 | |||||||
| chr7:6771902 | A | G | 29 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(26): Show |
29 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(26): Show |
intron_variant | MODIFIER | c.1102+211A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6771902 | |||||||
| chr7:6771988 | C | A | 16 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(13): Show |
16 | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.1102+297C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6771988 | |||||||
| chr7:6772004 | G | A | 1 | a0001c0008t0002g0040 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.1102+313G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772004 | |||||||
| chr7:6772008 | G | C | 64 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(61): Show |
64 | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(61): Show |
intron_variant | MODIFIER | c.1102+317G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772008 | |||||||
| chr7:6772025 | G | GA | 18 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0006t0001g0078 others(15): Show |
18 | HG00438.hp1 HG01243.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.1102+345dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr7 | 6772025 | ||||||
| chr7:6772066 | G | A | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1102+375G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772066 | |||||||
| chr7:6772162 | C | G | 1 | a0002c0005t0001g0029 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.1102+471C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772162 | |||||||
| chr7:6772255 | G | T | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1102+564G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772255 | |||||||
| chr7:6772304 | T | G | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1102+613T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772304 | |||||||
| chr7:6772325 | T | C | 5 | a0003c0004t0004g0096 a0003c0020t0001g0065 a0005c0018t0001g0072 others(2): Show |
5 | HG01243.hp1 HG01891.hp2 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.1102+634T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772325 | |||||||
| chr7:6772328 | C | T | 1 | a0002c0005t0001g0015 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1102+637C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772328 | |||||||
| chr7:6772410 | C | T | 16 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(13): Show |
16 | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.1102+719C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772410 | |||||||
| chr7:6772414 | T | G | 49 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(46): Show |
49 | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(46): Show |
intron_variant | MODIFIER | c.1102+723T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772414 | |||||||
| chr7:6772439 | G | A | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1102+748G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772439 | |||||||
| chr7:6772441 | C | T | 2 | a0003c0020t0001g0065 a0005c0018t0001g0072 |
2 | HG01243.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.1102+750C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772441 | |||||||
| chr7:6772522 | T | C | 44 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(41): Show |
44 | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(41): Show |
intron_variant | MODIFIER | c.1103-828T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772522 | |||||||
| chr7:6772531 | A | G | 57 | a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0046 others(54): Show |
57 | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.1103-819A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6772531 | |||||||
| chr7:6772578 | A | ACACCTGG others(5): Show |
1 | a0014c0017t0002g0084 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1103-770_1103-759d others(14): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr7 | 6772578 | ||||||
| chr7:6772752 | G | GT | 4 | a0002c0025t0001g0108 a0004c0003t0001g0008 a0004c0003t0001g0028 others(1): Show |
4 | HG01884.hp1 HG03688.hp1 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.1103-590dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr7 | 6772752 | ||||||
| chr7:6773026 | C | T | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1103-324C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6773026 | |||||||
| chr7:6773133 | A | C | 15 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(12): Show |
15 | HG00642.hp2 HG01243.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.1103-217A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6773133 | |||||||
| chr7:6773141 | G | A | 1 | a0002c0005t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1103-209G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6773141 | |||||||
| chr7:6773279 | C | CA | 13 | a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0059 others(10): Show |
13 | HG00438.hp2 HG02602.hp2 HG02735.hp1 others(10): Show |
intron_variant | MODIFIER | c.1103-55dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr7 | 6773279 | ||||||
| chr7:6773279 | CA | C | 22 | a0001c0024t0006g0014 a0002c0005t0001g0023 a0002c0005t0001g0029 others(19): Show |
22 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(19): Show |
intron_variant | MODIFIER | c.1103-55delA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr7 | 6773279 | ||||||
| chr7:6773279 | CAA | C | 14 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(11): Show |
14 | HG00642.hp2 HG01243.hp1 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.1103-56_1103-55del others(2): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr7 | 6773279 | ||||||
| chr7:6773293 | A | C | 5 | a0001c0024t0006g0014 a0002c0011t0001g0041 a0002c0027t0005g0013 others(2): Show |
5 | HG02809.hp1 HG02818.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1103-57A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 10/20 | chr7 | 6773293 | |||||||
| chr7:6773509 | A | G | 55 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(52): Show |
55 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(52): Show |
intron_variant | MODIFIER | c.1224+38A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773509 | |||||||
| chr7:6773549 | C | T | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1224+78C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773549 | |||||||
| chr7:6773561 | G | GT | 3 | a0002c0025t0001g0108 a0003c0004t0001g0103 a0004c0003t0001g0024 |
3 | HG01261.hp1 HG01884.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.1224+96dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr7 | 6773561 | ||||||
| chr7:6773588 | C | T | 1 | a0003c0007t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1224+117C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773588 | |||||||
| chr7:6773866 | T | G | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1224+395T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773866 | |||||||
| chr7:6773867 | G | A | 9 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1224+396G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773867 | |||||||
| chr7:6773870 | T | C | 9 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1224+399T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773870 | |||||||
| chr7:6773888 | T | G | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1224+417T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773888 | |||||||
| chr7:6773890 | G | A | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1224+419G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773890 | |||||||
| chr7:6773920 | C | T | 1 | a0004c0003t0001g0018 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1224+449C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773920 | |||||||
| chr7:6773925 | C | T | 1 | a0002c0002t0001g0062 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1224+454C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6773925 | |||||||
| chr7:6774032 | G | T | 9 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1224+561G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774032 | |||||||
| chr7:6774182 | C | CT | 31 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(28): Show |
31 | HG00642.hp2 HG01071.hp2 HG01243.hp1 others(28): Show |
intron_variant | MODIFIER | c.1224+725dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr7 | 6774182 | ||||||
| chr7:6774211 | T | C | 21 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(18): Show |
21 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(18): Show |
intron_variant | MODIFIER | c.1224+740T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774211 | |||||||
| chr7:6774224 | C | T | 1 | a0015c0013t0001g0099 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1224+753C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774224 | |||||||
| chr7:6774225 | T | C | 1 | a0015c0013t0001g0099 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1224+754T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774225 | |||||||
| chr7:6774240 | T | C | 65 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(62): Show |
65 | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(62): Show |
intron_variant | MODIFIER | c.1224+769T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774240 | |||||||
| chr7:6774332 | C | T | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1224+861C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774332 | |||||||
| chr7:6774383 | G | T | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1224+912G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774383 | |||||||
| chr7:6774458 | A | G | 61 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(58): Show |
61 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(58): Show |
intron_variant | MODIFIER | c.1224+987A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774458 | |||||||
| chr7:6774506 | C | A | 1 | a0001c0001t0002g0067 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.1224+1035C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774506 | |||||||
| chr7:6774753 | T | TG | 2 | a0011c0014t0001g0089 a0015c0013t0001g0099 |
2 | HG02922.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1224+1282_1224+128 others(5): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774753 | |||||||
| chr7:6774754 | TG | T | 6 | a0002c0006t0001g0078 a0003c0004t0001g0001 a0003c0004t0001g0004 others(3): Show |
6 | HG02074.hp1 HG02148.hp2 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.1224+1284delG | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774754 | |||||||
| chr7:6774755 | G | GT | 30 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(27): Show |
30 | HG00642.hp2 HG00741.hp1 HG00741.hp2 others(27): Show |
intron_variant | MODIFIER | c.1224+1297dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr7 | 6774755 | ||||||
| chr7:6774755 | G | GTT | 9 | a0001c0024t0006g0014 a0002c0005t0001g0029 a0003c0020t0001g0065 others(6): Show |
9 | HG01243.hp1 HG01891.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.1224+1296_1224+129 others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr7 | 6774755 | ||||||
| chr7:6774755 | G | T | 5 | a0002c0025t0001g0108 a0003c0004t0001g0048 a0003c0004t0001g0103 others(2): Show |
5 | HG01884.hp1 HG02135.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.1224+1284G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774755 | |||||||
| chr7:6774755 | GT | G | 9 | a0002c0006t0001g0042 a0002c0006t0001g0074 a0002c0027t0005g0013 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1224+1297delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr7 | 6774755 | ||||||
| chr7:6774759 | T | G | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1224+1288T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774759 | |||||||
| chr7:6774772 | G | T | 55 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(52): Show |
55 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(52): Show |
intron_variant | MODIFIER | c.1224+1301G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774772 | |||||||
| chr7:6774845 | G | A | 11 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(8): Show |
11 | HG00642.hp2 HG02071.hp2 HG02074.hp2 others(8): Show |
intron_variant | MODIFIER | c.1224+1374G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774845 | |||||||
| chr7:6774882 | A | G | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1224+1411A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774882 | |||||||
| chr7:6774908 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1224+1437G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774908 | |||||||
| chr7:6774932 | C | T | 1 | a0002c0006t0001g0044 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1225-1425C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774932 | |||||||
| chr7:6774933 | T | C | 1 | a0002c0006t0001g0044 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1225-1424T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774933 | |||||||
| chr7:6774940 | C | T | 1 | a0003c0004t0001g0048 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1225-1417C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774940 | |||||||
| chr7:6774941 | T | C | 1 | a0003c0004t0001g0048 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1225-1416T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6774941 | |||||||
| chr7:6775054 | C | T | 2 | a0011c0014t0001g0089 a0015c0013t0001g0099 |
2 | HG02922.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1225-1303C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775054 | |||||||
| chr7:6775311 | C | G | 1 | a0015c0013t0001g0099 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1225-1046C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775311 | |||||||
| chr7:6775312 | G | C | 1 | a0015c0013t0001g0099 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1225-1045G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775312 | |||||||
| chr7:6775630 | C | T | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1225-727C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775630 | |||||||
| chr7:6775637 | C | A | 16 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(13): Show |
16 | HG02071.hp2 HG02074.hp2 HG02647.hp1 others(13): Show |
intron_variant | MODIFIER | c.1225-720C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775637 | |||||||
| chr7:6775640 | C | T | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1225-717C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775640 | |||||||
| chr7:6775745 | T | C | 1 | a0004c0003t0001g0016 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1225-612T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775745 | |||||||
| chr7:6775880 | A | G | 39 | a0001c0008t0002g0081 a0002c0005t0001g0015 a0002c0005t0001g0022 others(36): Show |
39 | HG00438.hp1 HG00438.hp2 HG00741.hp1 others(36): Show |
intron_variant | MODIFIER | c.1225-477A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775880 | |||||||
| chr7:6775893 | A | G | 2 | a0001c0024t0006g0014 a0005c0009t0003g0090 |
2 | HG02809.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1225-464A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775893 | |||||||
| chr7:6775991 | T | C | 31 | a0001c0008t0002g0081 a0002c0005t0001g0015 a0002c0005t0001g0022 others(28): Show |
31 | HG00438.hp2 HG00741.hp1 HG01261.hp1 others(28): Show |
intron_variant | MODIFIER | c.1225-366T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6775991 | |||||||
| chr7:6776092 | G | A | 38 | a0001c0008t0002g0081 a0002c0005t0001g0015 a0002c0005t0001g0022 others(35): Show |
38 | HG00438.hp1 HG00438.hp2 HG00741.hp1 others(35): Show |
intron_variant | MODIFIER | c.1225-265G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6776092 | |||||||
| chr7:6776122 | C | CAATTCTG others(34): Show |
1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1225-234_1225-194d others(43): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr7 | 6776122 | ||||||
| chr7:6776315 | T | C | 39 | a0001c0008t0002g0081 a0002c0005t0001g0015 a0002c0005t0001g0022 others(36): Show |
39 | HG00438.hp1 HG00438.hp2 HG00741.hp1 others(36): Show |
intron_variant | MODIFIER | c.1225-42T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6776315 | |||||||
| chr7:6776315 | T | G | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1225-42T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | chr7 | 6776315 | |||||||
| chr7:6776321 | T | TTGTTCTT others(311): Show |
1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1225-29_1225-28ins others(318): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr7 | 6776321 | ||||||
| chr7:6776651 | C | T | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1414+105C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776651 | |||||||
| chr7:6776727 | A | G | 3 | a0011c0014t0001g0089 a0013c0016t0007g0100 a0015c0013t0001g0099 |
3 | HG02922.hp2 NA18522.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1414+181A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776727 | |||||||
| chr7:6776744 | G | A | 4 | a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0012t0002g0021 others(1): Show |
4 | HG01167.hp2 HG01243.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1414+198G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776744 | |||||||
| chr7:6776747 | C | T | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1414+201C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776747 | |||||||
| chr7:6776864 | G | A | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1414+318G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776864 | |||||||
| chr7:6776873 | T | TCA | 12 | a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0068 others(9): Show |
12 | HG00642.hp1 HG01261.hp2 HG02074.hp2 others(9): Show |
intron_variant | MODIFIER | c.1414+380_1414+381d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | T | TCACA | 2 | a0001c0001t0003g0094 a0001c0001t0003g0098 |
2 | HG02809.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1414+378_1414+381d others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCA | T | 9 | a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0003g0093 others(6): Show |
9 | HG01978.hp1 HG01978.hp2 HG02015.hp2 others(6): Show |
intron_variant | MODIFIER | c.1414+380_1414+381d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACA | T | 19 | a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 others(16): Show |
19 | HG00741.hp2 HG01071.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.1414+378_1414+381d others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACACA | T | 13 | a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0075 others(10): Show |
13 | HG01261.hp1 HG01433.hp2 HG01517.hp1 others(10): Show |
intron_variant | MODIFIER | c.1414+376_1414+381d others(8): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACACAC others(1): Show |
T | 16 | a0002c0002t0001g0076 a0002c0005t0001g0022 a0002c0005t0001g0023 others(13): Show |
16 | HG00741.hp1 HG01884.hp2 HG01981.hp1 others(13): Show |
intron_variant | MODIFIER | c.1414+374_1414+381d others(10): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACACAC others(5): Show |
T | 1 | a0002c0012t0002g0105 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1414+370_1414+381d others(14): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACACAC others(7): Show |
T | 1 | a0002c0005t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1414+368_1414+381d others(16): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACACAC others(13): Show |
T | 2 | a0003c0004t0001g0103 a0006c0010t0001g0034 |
2 | HG03688.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.1414+362_1414+381d others(22): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACACAC others(15): Show |
T | 10 | a0001c0008t0002g0081 a0002c0005t0001g0015 a0002c0006t0001g0078 others(7): Show |
10 | HG00438.hp2 HG01243.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1414+360_1414+381d others(24): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACACAC others(17): Show |
T | 4 | a0002c0025t0001g0108 a0003c0004t0004g0096 a0003c0015t0001g0056 others(1): Show |
4 | HG01071.hp2 HG01884.hp1 HG02735.hp1 others(1): Show |
intron_variant | MODIFIER | c.1414+358_1414+381d others(26): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776873 | TCACACAC others(19): Show |
T | 6 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0003c0004t0001g0002 others(3): Show |
6 | HG00438.hp1 HG01433.hp1 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.1414+356_1414+381d others(28): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6776873 | ||||||
| chr7:6776881 | A | T | 5 | a0004c0003t0001g0010 a0004c0003t0001g0018 a0004c0003t0001g0024 others(2): Show |
5 | HG01261.hp1 HG01517.hp1 HG02071.hp1 others(2): Show |
intron_variant | MODIFIER | c.1414+335A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776881 | |||||||
| chr7:6776883 | A | T | 14 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(11): Show |
14 | HG00741.hp1 HG01884.hp2 HG01981.hp1 others(11): Show |
intron_variant | MODIFIER | c.1414+337A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776883 | |||||||
| chr7:6776889 | A | T | 1 | a0002c0005t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1414+343A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776889 | |||||||
| chr7:6776898 | C | G | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1414+352C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776898 | |||||||
| chr7:6776900 | C | G | 2 | a0003c0004t0001g0001 a0003c0004t0001g0102 |
2 | HG02148.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.1414+354C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776900 | |||||||
| chr7:6776900 | CACACACA others(25): Show |
C | 1 | a0002c0006t0001g0074 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1414+355_1414+386d others(34): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776900 | |||||||
| chr7:6776902 | C | G | 1 | a0014c0017t0002g0084 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1414+356C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776902 | |||||||
| chr7:6776985 | G | A | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1414+439G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6776985 | |||||||
| chr7:6777059 | G | A | 19 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(16): Show |
19 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(16): Show |
intron_variant | MODIFIER | c.1414+513G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777059 | |||||||
| chr7:6777064 | G | GT | 4 | a0003c0004t0001g0103 a0003c0007t0004g0091 a0003c0007t0004g0092 others(1): Show |
4 | HG00438.hp1 HG01433.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.1414+526dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6777064 | ||||||
| chr7:6777066 | T | G | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1414+520T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777066 | |||||||
| chr7:6777068 | T | TG | 9 | a0001c0024t0006g0014 a0002c0011t0001g0041 a0002c0027t0005g0013 others(6): Show |
9 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1414+522_1414+523i others(3): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777068 | |||||||
| chr7:6777142 | G | C | 10 | a0001c0008t0002g0081 a0002c0005t0001g0015 a0002c0006t0001g0078 others(7): Show |
10 | HG00438.hp2 HG02074.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.1414+596G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777142 | |||||||
| chr7:6777189 | G | A | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1414+643G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777189 | |||||||
| chr7:6777227 | T | C | 5 | a0003c0020t0001g0065 a0005c0018t0001g0072 a0005c0019t0001g0012 others(2): Show |
5 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1414+681T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777227 | |||||||
| chr7:6777272 | G | A | 1 | a0013c0016t0007g0100 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1414+726G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777272 | |||||||
| chr7:6777399 | C | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1414+853C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777399 | |||||||
| chr7:6777449 | G | A | 1 | a0002c0006t0001g0044 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1414+903G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777449 | |||||||
| chr7:6777633 | A | G | 13 | a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0002g0080 others(10): Show |
13 | HG00438.hp2 HG02074.hp1 HG02135.hp1 others(10): Show |
intron_variant | MODIFIER | c.1414+1087A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777633 | |||||||
| chr7:6777646 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1414+1100G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777646 | |||||||
| chr7:6777682 | G | A | 2 | a0011c0014t0001g0089 a0015c0013t0001g0099 |
2 | HG02922.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1414+1136G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777682 | |||||||
| chr7:6777687 | T | C | 17 | a0001c0024t0006g0014 a0002c0006t0001g0042 a0002c0006t0001g0044 others(14): Show |
17 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.1414+1141T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777687 | |||||||
| chr7:6777712 | G | A | 1 | a0002c0006t0001g0074 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1414+1166G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777712 | |||||||
| chr7:6777713 | C | G | 1 | a0002c0006t0001g0074 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1414+1167C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777713 | |||||||
| chr7:6777721 | C | T | 3 | a0002c0006t0001g0042 a0002c0006t0001g0074 a0003c0015t0001g0056 |
3 | HG01071.hp2 NA18968.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.1414+1175C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777721 | |||||||
| chr7:6777801 | A | G | 1 | a0004c0003t0001g0037 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1414+1255A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777801 | |||||||
| chr7:6777955 | C | T | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1414+1409C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777955 | |||||||
| chr7:6777965 | A | G | 2 | a0011c0014t0001g0089 a0015c0013t0001g0099 |
2 | HG02922.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1414+1419A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6777965 | |||||||
| chr7:6778157 | A | T | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1415-1453A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778157 | |||||||
| chr7:6778158 | T | A | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1415-1452T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778158 | |||||||
| chr7:6778159 | A | T | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1415-1451A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778159 | |||||||
| chr7:6778349 | G | T | 20 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(17): Show |
20 | HG00741.hp1 HG01261.hp1 HG01884.hp1 others(17): Show |
intron_variant | MODIFIER | c.1415-1261G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778349 | |||||||
| chr7:6778470 | A | C | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1415-1140A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778470 | |||||||
| chr7:6778473 | C | T | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1415-1137C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778473 | |||||||
| chr7:6778498 | C | T | 1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1415-1112C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778498 | |||||||
| chr7:6778647 | G | A | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1415-963G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778647 | |||||||
| chr7:6778751 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1415-859G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778751 | |||||||
| chr7:6778823 | G | GA | 6 | a0001c0001t0002g0031 a0003c0004t0001g0001 a0003c0004t0001g0103 others(3): Show |
6 | HG01261.hp2 HG02148.hp2 HG03669.hp1 others(3): Show |
intron_variant | MODIFIER | c.1415-774dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6778823 | ||||||
| chr7:6778823 | GA | G | 8 | a0002c0005t0001g0029 a0002c0025t0001g0108 a0003c0004t0001g0003 others(5): Show |
8 | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.1415-774delA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6778823 | ||||||
| chr7:6778831 | A | C | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1415-779A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778831 | |||||||
| chr7:6778832 | A | C | 7 | a0002c0025t0001g0108 a0003c0004t0001g0003 a0003c0020t0001g0065 others(4): Show |
7 | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.1415-778A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778832 | |||||||
| chr7:6778834 | A | C | 3 | a0001c0024t0006g0014 a0002c0027t0005g0013 a0010c0028t0005g0005 |
3 | HG02809.hp1 HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1415-776A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778834 | |||||||
| chr7:6778932 | C | CCTAATT | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1415-678_1415-677i others(8): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778932 | |||||||
| chr7:6778934 | T | G | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1415-676T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778934 | |||||||
| chr7:6778935 | C | G | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1415-675C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778935 | |||||||
| chr7:6778938 | T | G | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1415-672T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778938 | |||||||
| chr7:6778941 | AAC | A | 8 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(5): Show |
8 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1415-667_1415-666d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6778941 | ||||||
| chr7:6778960 | C | G | 12 | a0002c0005t0001g0015 a0002c0006t0001g0078 a0002c0025t0001g0108 others(9): Show |
12 | HG01884.hp1 HG01891.hp2 HG02074.hp1 others(9): Show |
intron_variant | MODIFIER | c.1415-650C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6778960 | |||||||
| chr7:6778986 | A | AGAGCT | 6 | a0001c0024t0006g0014 a0003c0020t0001g0065 a0005c0018t0001g0072 others(3): Show |
6 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1415-622_1415-618d others(7): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6778986 | ||||||
| chr7:6779154 | CT | C | 6 | a0002c0005t0001g0022 a0002c0025t0001g0108 a0003c0004t0001g0001 others(3): Show |
6 | HG01884.hp1 HG01981.hp1 HG02148.hp2 others(3): Show |
intron_variant | MODIFIER | c.1415-441delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | 6779154 | ||||||
| chr7:6779183 | G | A | 5 | a0002c0011t0001g0041 a0003c0020t0001g0065 a0005c0018t0001g0072 others(2): Show |
5 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1415-427G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779183 | |||||||
| chr7:6779183 | G | C | 1 | a0006c0010t0001g0034 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1415-427G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779183 | |||||||
| chr7:6779221 | G | A | 21 | a0002c0005t0001g0022 a0002c0005t0001g0029 a0002c0005t0001g0043 others(18): Show |
21 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(18): Show |
intron_variant | MODIFIER | c.1415-389G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779221 | |||||||
| chr7:6779297 | G | A | 2 | a0011c0014t0001g0089 a0015c0013t0001g0099 |
2 | HG02922.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1415-313G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779297 | |||||||
| chr7:6779358 | G | T | 2 | a0003c0004t0001g0002 a0013c0016t0007g0100 |
2 | NA18522.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.1415-252G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779358 | |||||||
| chr7:6779392 | G | A | 43 | a0001c0001t0002g0104 a0002c0005t0001g0015 a0002c0005t0001g0022 others(40): Show |
43 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(40): Show |
intron_variant | MODIFIER | c.1415-218G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779392 | |||||||
| chr7:6779417 | GC | G | 2 | a0003c0004t0001g0002 a0013c0016t0007g0100 |
2 | NA18522.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.1415-192delC | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779417 | |||||||
| chr7:6779481 | G | A | 22 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(19): Show |
22 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(19): Show |
intron_variant | MODIFIER | c.1415-129G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779481 | |||||||
| chr7:6779544 | C | T | 1 | a0001c0026t0002g0053 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1415-66C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779544 | |||||||
| chr7:6779553 | A | C | 19 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(16): Show |
19 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(16): Show |
intron_variant | MODIFIER | c.1415-57A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779553 | |||||||
| chr7:6779583 | G | C | 3 | a0003c0007t0001g0077 a0003c0007t0004g0091 a0003c0007t0004g0092 |
3 | HG00438.hp1 HG01433.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.1415-27G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | 6779583 | |||||||
| chr7:6779839 | G | A | 21 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(18): Show |
21 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(18): Show |
intron_variant | MODIFIER | c.1529+115G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6779839 | |||||||
| chr7:6779881 | T | C | 43 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0005t0001g0022 others(40): Show |
43 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(40): Show |
intron_variant | MODIFIER | c.1529+157T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6779881 | |||||||
| chr7:6779901 | C | T | 1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1529+177C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6779901 | |||||||
| chr7:6779925 | G | A | 11 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(8): Show |
11 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.1529+201G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6779925 | |||||||
| chr7:6779953 | A | G | 40 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0005t0001g0022 others(37): Show |
40 | HG00741.hp1 HG01243.hp1 HG01261.hp1 others(37): Show |
intron_variant | MODIFIER | c.1529+229A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6779953 | |||||||
| chr7:6779974 | A | AT | 9 | a0001c0001t0002g0033 a0002c0002t0001g0066 a0002c0005t0001g0029 others(6): Show |
9 | HG01243.hp1 HG01517.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.1529+270dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr7 | 6779974 | ||||||
| chr7:6779974 | AT | A | 9 | a0001c0001t0002g0055 a0002c0011t0001g0041 a0002c0025t0001g0108 others(6): Show |
9 | HG01256.hp2 HG01884.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.1529+270delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr7 | 6779974 | ||||||
| chr7:6779974 | ATTTTTTT others(4): Show |
A | 19 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(16): Show |
19 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.1529+260_1529+270d others(13): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr7 | 6779974 | ||||||
| chr7:6779974 | ATTTTTTT others(6): Show |
A | 1 | a0015c0013t0001g0099 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1529+258_1529+270d others(15): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr7 | 6779974 | ||||||
| chr7:6779984 | T | G | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1529+260T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6779984 | |||||||
| chr7:6780089 | C | G | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1529+365C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780089 | |||||||
| chr7:6780313 | T | C | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1530-496T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780313 | |||||||
| chr7:6780318 | C | T | 41 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.1530-491C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780318 | |||||||
| chr7:6780319 | A | G | 41 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.1530-490A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780319 | |||||||
| chr7:6780387 | C | T | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1530-422C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780387 | |||||||
| chr7:6780523 | AC | A | 3 | a0002c0002t0002g0057 a0002c0012t0002g0021 a0002c0012t0002g0105 |
3 | HG01167.hp2 HG01243.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.1530-284delC | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr7 | 6780523 | ||||||
| chr7:6780568 | G | A | 9 | a0001c0024t0006g0014 a0002c0011t0001g0041 a0002c0027t0005g0013 others(6): Show |
9 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1530-241G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780568 | |||||||
| chr7:6780580 | T | C | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1530-229T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780580 | |||||||
| chr7:6780755 | T | A | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1530-54T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780755 | |||||||
| chr7:6780764 | T | C | 2 | a0002c0006t0001g0078 a0003c0004t0001g0048 |
2 | HG02074.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.1530-45T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780764 | |||||||
| chr7:6780807 | A | G | 1 | a0003c0004t0001g0002 | 1 | NA18942.hp2 | splice_acceptor_variant&intron_variant | HIGH | c.1530-2A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 13/20 | chr7 | 6780807 | |||||||
| chr7:6780904 | A | G | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1609+16A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/20 | chr7 | 6780904 | |||||||
| chr7:6780960 | C | T | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1609+72C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/20 | chr7 | 6780960 | |||||||
| chr7:6781041 | A | G | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1609+153A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/20 | chr7 | 6781041 | |||||||
| chr7:6781152 | C | T | 1 | a0001c0001t0002g0107 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1610-176C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/20 | chr7 | 6781152 | |||||||
| chr7:6781162 | T | TG | 7 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(4): Show |
7 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(4): Show |
intron_variant | MODIFIER | c.1610-160dupG | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr7 | 6781162 | ||||||
| chr7:6781235 | C | T | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1610-93C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/20 | chr7 | 6781235 | |||||||
| chr7:6781273 | AT | A | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1610-47delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr7 | 6781273 | ||||||
| chr7:6781569 | T | A | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+93T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781569 | |||||||
| chr7:6781586 | G | C | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1758+110G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781586 | |||||||
| chr7:6781592 | G | A | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+116G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781592 | |||||||
| chr7:6781653 | A | G | 6 | a0002c0011t0001g0041 a0003c0020t0001g0065 a0005c0018t0001g0072 others(3): Show |
6 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1758+177A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781653 | |||||||
| chr7:6781669 | T | C | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+193T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781669 | |||||||
| chr7:6781744 | G | A | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+268G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781744 | |||||||
| chr7:6781787 | C | T | 9 | a0002c0006t0001g0078 a0002c0025t0001g0108 a0003c0004t0001g0001 others(6): Show |
9 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.1758+311C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781787 | |||||||
| chr7:6781855 | C | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1758+379C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781855 | |||||||
| chr7:6781869 | A | AAAAATAT | 5 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(2): Show |
5 | HG00438.hp1 HG01071.hp2 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.1758+394_1758+395i others(9): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6781869 | ||||||
| chr7:6781869 | A | AAAATAT | 4 | a0002c0005t0001g0043 a0004c0003t0001g0017 a0004c0003t0001g0024 others(1): Show |
4 | HG00741.hp1 HG01261.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.1758+394_1758+395i others(8): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6781869 | ||||||
| chr7:6781869 | A | AAATAT | 10 | a0002c0006t0001g0078 a0003c0004t0001g0001 a0003c0004t0001g0003 others(7): Show |
10 | HG02074.hp1 HG02135.hp1 HG02148.hp2 others(7): Show |
intron_variant | MODIFIER | c.1758+394_1758+395i others(7): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6781869 | ||||||
| chr7:6781869 | A | AAATATAT | 6 | a0002c0005t0001g0029 a0002c0025t0001g0108 a0003c0004t0001g0002 others(3): Show |
6 | HG01433.hp1 HG01884.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.1758+394_1758+395i others(9): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6781869 | ||||||
| chr7:6781869 | A | AT | 2 | a0002c0005t0001g0015 a0011c0014t0001g0089 |
2 | HG02922.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1758+393_1758+394i others(3): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781869 | |||||||
| chr7:6781871 | T | A | 3 | a0001c0024t0006g0014 a0002c0027t0005g0013 a0010c0028t0005g0005 |
3 | HG02809.hp1 HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1758+395T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781871 | |||||||
| chr7:6781881 | T | A | 25 | a0002c0005t0001g0029 a0002c0005t0001g0043 a0002c0006t0001g0042 others(22): Show |
25 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.1758+405T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781881 | |||||||
| chr7:6781881 | T | TATATAA | 15 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0070 others(12): Show |
15 | HG01517.hp1 HG01884.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.1758+408_1758+409i others(8): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6781881 | ||||||
| chr7:6781888 | A | AAATG | 2 | a0002c0005t0001g0015 a0011c0014t0001g0089 |
2 | HG02922.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1758+412_1758+413i others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781888 | |||||||
| chr7:6781911 | T | A | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+435T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781911 | |||||||
| chr7:6781936 | G | A | 1 | a0003c0004t0001g0048 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1758+460G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781936 | |||||||
| chr7:6781969 | A | G | 9 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1758+493A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6781969 | |||||||
| chr7:6782038 | T | A | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+562T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782038 | |||||||
| chr7:6782039 | A | G | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+563A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782039 | |||||||
| chr7:6782103 | G | T | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1758+627G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782103 | |||||||
| chr7:6782107 | T | G | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+631T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782107 | |||||||
| chr7:6782161 | G | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1758+685G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782161 | |||||||
| chr7:6782193 | T | C | 9 | a0001c0024t0006g0014 a0002c0011t0001g0041 a0002c0027t0005g0013 others(6): Show |
9 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1758+717T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782193 | |||||||
| chr7:6782233 | C | T | 8 | a0002c0006t0001g0078 a0002c0025t0001g0108 a0003c0004t0001g0001 others(5): Show |
8 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.1758+757C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782233 | |||||||
| chr7:6782470 | C | T | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1758+994C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782470 | |||||||
| chr7:6782510 | C | CA | 3 | a0003c0004t0001g0001 a0004c0003t0001g0009 a0015c0013t0001g0099 |
3 | HG02135.hp2 HG02148.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1758+1041dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6782510 | ||||||
| chr7:6782578 | T | C | 1 | a0003c0004t0001g0102 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1758+1102T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782578 | |||||||
| chr7:6782583 | C | T | 1 | a0013c0016t0007g0100 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1758+1107C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782583 | |||||||
| chr7:6782647 | A | G | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+1171A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782647 | |||||||
| chr7:6782664 | T | C | 38 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(35): Show |
38 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(35): Show |
intron_variant | MODIFIER | c.1758+1188T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782664 | |||||||
| chr7:6782753 | A | G | 43 | a0001c0001t0002g0047 a0002c0005t0001g0015 a0002c0005t0001g0022 others(40): Show |
43 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(40): Show |
intron_variant | MODIFIER | c.1758+1277A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782753 | |||||||
| chr7:6782815 | C | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1758+1339C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782815 | |||||||
| chr7:6782833 | G | A | 9 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1758+1357G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782833 | |||||||
| chr7:6782838 | G | A | 2 | a0003c0004t0001g0003 a0013c0016t0007g0100 |
2 | HG02895.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1758+1362G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782838 | |||||||
| chr7:6782841 | C | T | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1758+1365C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782841 | |||||||
| chr7:6782844 | C | A | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1758+1368C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782844 | |||||||
| chr7:6782883 | C | CA | 41 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.1758+1416dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6782883 | ||||||
| chr7:6782990 | C | T | 39 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(36): Show |
39 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(36): Show |
intron_variant | MODIFIER | c.1758+1514C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782990 | |||||||
| chr7:6782997 | A | G | 1 | a0013c0016t0007g0100 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1758+1521A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6782997 | |||||||
| chr7:6783062 | C | T | 2 | a0003c0004t0001g0003 a0013c0016t0007g0100 |
2 | HG02895.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1758+1586C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783062 | |||||||
| chr7:6783077 | G | A | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1758+1601G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783077 | |||||||
| chr7:6783124 | G | A | 3 | a0003c0004t0001g0003 a0011c0014t0001g0089 a0013c0016t0007g0100 |
3 | HG02895.hp2 HG02922.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1758+1648G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783124 | |||||||
| chr7:6783184 | C | T | 20 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(17): Show |
20 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.1758+1708C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783184 | |||||||
| chr7:6783223 | T | G | 48 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(45): Show |
48 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(45): Show |
intron_variant | MODIFIER | c.1758+1747T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783223 | |||||||
| chr7:6783232 | G | A | 49 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(46): Show |
49 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(46): Show |
intron_variant | MODIFIER | c.1758+1756G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783232 | |||||||
| chr7:6783546 | TCCTGCAA | T | 2 | a0003c0020t0001g0065 a0005c0018t0001g0072 |
2 | HG01243.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.1758+2074_1758+208 others(11): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6783546 | ||||||
| chr7:6783566 | A | G | 42 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1758+2090A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783566 | |||||||
| chr7:6783819 | G | GAAT | 2 | a0001c0001t0002g0068 a0013c0016t0007g0100 |
2 | NA18522.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.1759-2111_1759-210 others(7): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6783819 | ||||||
| chr7:6783819 | G | GAATAAT | 7 | a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0006t0001g0078 others(4): Show |
7 | HG02074.hp1 HG02135.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.1759-2114_1759-210 others(10): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6783819 | ||||||
| chr7:6783819 | G | GAATAATA others(2): Show |
12 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0082 others(9): Show |
12 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(9): Show |
intron_variant | MODIFIER | c.1759-2117_1759-210 others(13): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6783819 | ||||||
| chr7:6783819 | G | GAATAATA others(5): Show |
1 | a0004c0003t0001g0028 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1759-2120_1759-210 others(16): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6783819 | ||||||
| chr7:6783835 | A | T | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1759-2114A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783835 | |||||||
| chr7:6783838 | A | AATAATAA others(5): Show |
1 | a0004c0003t0001g0010 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1759-2109_1759-210 others(16): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6783838 | ||||||
| chr7:6783838 | A | AATAATAA others(2): Show |
6 | a0002c0005t0001g0029 a0002c0005t0001g0043 a0002c0005t0001g0070 others(3): Show |
6 | HG02135.hp2 HG02148.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1759-2109_1759-210 others(13): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6783838 | ||||||
| chr7:6783838 | A | AATAATT | 3 | a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0004g0096 |
3 | HG02735.hp1 HG03239.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.1759-2109_1759-210 others(10): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6783838 | ||||||
| chr7:6783838 | A | T | 2 | a0002c0011t0001g0041 a0003c0004t0001g0003 |
2 | HG02895.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1759-2111A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783838 | |||||||
| chr7:6783841 | T | A | 33 | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0055 others(30): Show |
33 | HG00741.hp1 HG01243.hp1 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.1759-2108T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6783841 | |||||||
| chr7:6784050 | G | C | 7 | a0002c0011t0001g0041 a0002c0027t0005g0013 a0003c0004t0001g0003 others(4): Show |
7 | HG02647.hp1 HG02818.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1759-1899G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784050 | |||||||
| chr7:6784137 | T | A | 28 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(25): Show |
28 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(25): Show |
intron_variant | MODIFIER | c.1759-1812T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784137 | |||||||
| chr7:6784163 | G | A | 10 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(7): Show |
10 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.1759-1786G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784163 | |||||||
| chr7:6784268 | G | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1759-1681G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784268 | |||||||
| chr7:6784269 | TTG | T | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1759-1676_1759-167 others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6784269 | ||||||
| chr7:6784271 | G | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1759-1678G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784271 | |||||||
| chr7:6784273 | G | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1759-1676G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784273 | |||||||
| chr7:6784316 | A | C | 2 | a0003c0004t0001g0003 a0013c0016t0007g0100 |
2 | HG02895.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1759-1633A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784316 | |||||||
| chr7:6784511 | TA | T | 20 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(17): Show |
20 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.1759-1427delA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6784511 | ||||||
| chr7:6784565 | C | CATT | 10 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(7): Show |
10 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.1759-1368_1759-136 others(7): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6784565 | ||||||
| chr7:6784620 | C | T | 20 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(17): Show |
20 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.1759-1329C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784620 | |||||||
| chr7:6784711 | A | G | 9 | a0002c0006t0001g0078 a0003c0004t0001g0001 a0003c0004t0001g0003 others(6): Show |
9 | HG02074.hp1 HG02135.hp1 HG02148.hp2 others(6): Show |
intron_variant | MODIFIER | c.1759-1238A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784711 | |||||||
| chr7:6784714 | T | C | 43 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(40): Show |
43 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(40): Show |
intron_variant | MODIFIER | c.1759-1235T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784714 | |||||||
| chr7:6784725 | C | G | 41 | a0002c0002t0001g0032 a0002c0005t0001g0015 a0002c0005t0001g0022 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.1759-1224C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784725 | |||||||
| chr7:6784758 | C | T | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1759-1191C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6784758 | |||||||
| chr7:6784897 | CTG | C | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.1759-1049_1759-104 others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6784897 | ||||||
| chr7:6785021 | C | T | 10 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(7): Show |
10 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.1759-928C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785021 | |||||||
| chr7:6785022 | G | A | 29 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(26): Show |
29 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(26): Show |
intron_variant | MODIFIER | c.1759-927G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785022 | |||||||
| chr7:6785046 | G | A | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1759-903G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785046 | |||||||
| chr7:6785084 | C | G | 4 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(1): Show |
4 | HG01071.hp2 HG02602.hp2 NA18968.hp2 others(1): Show |
intron_variant | MODIFIER | c.1759-865C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785084 | |||||||
| chr7:6785142 | C | CGT | 22 | a0001c0001t0002g0047 a0001c0001t0002g0059 a0001c0001t0002g0060 others(19): Show |
22 | HG00438.hp2 HG00642.hp1 HG00642.hp2 others(19): Show |
intron_variant | MODIFIER | c.1759-758_1759-757d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | C | CGTGT | 8 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0052 others(5): Show |
8 | HG00741.hp2 HG01891.hp1 NA18747.hp1 others(5): Show |
intron_variant | MODIFIER | c.1759-760_1759-757d others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | C | CGTGTGT | 7 | a0001c0001t0002g0038 a0001c0001t0002g0055 a0001c0001t0003g0098 others(4): Show |
7 | HG01256.hp2 HG02135.hp1 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.1759-762_1759-757d others(8): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | C | CGTGTGTG others(3): Show |
1 | a0001c0001t0003g0097 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1759-766_1759-757d others(12): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | C | CGTGTGTG others(7): Show |
1 | a0001c0001t0002g0051 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1759-770_1759-757d others(16): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | CGT | C | 6 | a0001c0001t0002g0031 a0001c0001t0002g0033 a0002c0005t0001g0029 others(3): Show |
6 | HG01261.hp2 HG01981.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.1759-758_1759-757d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | CGTGT | C | 8 | a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0005t0001g0015 others(5): Show |
8 | HG00741.hp1 HG02015.hp1 HG02015.hp2 others(5): Show |
intron_variant | MODIFIER | c.1759-760_1759-757d others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | CGTGTGT | C | 9 | a0001c0026t0002g0053 a0002c0006t0001g0042 a0002c0011t0001g0041 others(6): Show |
9 | HG01261.hp1 HG01433.hp2 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.1759-762_1759-757d others(8): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | CGTGTGTG others(1): Show |
C | 15 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0070 others(12): Show |
15 | HG00438.hp1 HG01071.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.1759-764_1759-757d others(10): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | CGTGTGTG others(3): Show |
C | 4 | a0001c0001t0002g0106 a0001c0024t0006g0014 a0003c0020t0001g0065 others(1): Show |
4 | HG01243.hp1 HG01891.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.1759-766_1759-757d others(12): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785142 | CGTGTGTG others(5): Show |
C | 3 | a0002c0027t0005g0013 a0004c0003t0001g0019 a0010c0028t0005g0005 |
3 | HG02818.hp2 HG02895.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.1759-768_1759-757d others(14): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785142 | ||||||
| chr7:6785149 | G | GTC | 2 | a0002c0002t0001g0061 a0002c0002t0001g0062 |
2 | HG02735.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1759-799_1759-798i others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | 6785149 | ||||||
| chr7:6785192 | T | TGTGTGTG | 2 | a0002c0002t0002g0058 a0005c0009t0003g0090 |
2 | HG02970.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1759-757_1759-756i others(9): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785192 | |||||||
| chr7:6785395 | C | T | 20 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(17): Show |
20 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.1759-554C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785395 | |||||||
| chr7:6785562 | C | A | 29 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(26): Show |
29 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(26): Show |
intron_variant | MODIFIER | c.1759-387C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785562 | |||||||
| chr7:6785760 | G | C | 11 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(8): Show |
11 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.1759-189G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785760 | |||||||
| chr7:6785803 | C | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1759-146C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785803 | |||||||
| chr7:6785819 | C | T | 20 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(17): Show |
20 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.1759-130C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785819 | |||||||
| chr7:6785859 | T | C | 2 | a0002c0011t0001g0041 a0002c0025t0001g0108 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1759-90T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785859 | |||||||
| chr7:6785937 | T | G | 1 | a0002c0006t0001g0078 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1759-12T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | 6785937 | |||||||
| chr7:6786178 | C | CT | 28 | a0001c0001t0002g0046 a0001c0001t0003g0094 a0002c0002t0002g0057 others(25): Show |
28 | HG00741.hp1 HG01243.hp2 HG01261.hp1 others(25): Show |
intron_variant | MODIFIER | c.1866+141dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr7 | 6786178 | ||||||
| chr7:6786178 | C | CTT | 4 | a0002c0005t0001g0029 a0004c0003t0001g0008 a0004c0003t0001g0016 others(1): Show |
4 | HG01981.hp1 HG04115.hp2 NA18953.hp2 others(1): Show |
intron_variant | MODIFIER | c.1866+140_1866+141d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr7 | 6786178 | ||||||
| chr7:6786178 | CT | C | 7 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(4): Show |
7 | HG00438.hp1 HG02602.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.1866+141delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr7 | 6786178 | ||||||
| chr7:6786203 | C | T | 21 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(18): Show |
21 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(18): Show |
intron_variant | MODIFIER | c.1866+147C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786203 | |||||||
| chr7:6786307 | C | T | 1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1866+251C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786307 | |||||||
| chr7:6786329 | C | T | 1 | a0003c0004t0001g0004 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1866+273C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786329 | |||||||
| chr7:6786349 | A | AT | 10 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(7): Show |
10 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.1866+307dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr7 | 6786349 | ||||||
| chr7:6786366 | AT | A | 40 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(37): Show |
40 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.1866+319delT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr7 | 6786366 | ||||||
| chr7:6786380 | G | C | 20 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(17): Show |
20 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.1866+324G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786380 | |||||||
| chr7:6786474 | A | G | 10 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(7): Show |
10 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.1867-404A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786474 | |||||||
| chr7:6786490 | A | G | 18 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(15): Show |
18 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(15): Show |
intron_variant | MODIFIER | c.1867-388A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786490 | |||||||
| chr7:6786533 | G | C | 28 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(25): Show |
28 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(25): Show |
intron_variant | MODIFIER | c.1867-345G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786533 | |||||||
| chr7:6786743 | A | G | 42 | a0001c0001t0002g0006 a0001c0001t0002g0038 a0002c0005t0001g0015 others(39): Show |
42 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.1867-135A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786743 | |||||||
| chr7:6786755 | C | CTG | 11 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(8): Show |
11 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.1867-112_1867-111d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr7 | 6786755 | ||||||
| chr7:6786766 | T | G | 6 | a0002c0011t0001g0041 a0003c0020t0001g0065 a0005c0018t0001g0072 others(3): Show |
6 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1867-112T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 16/20 | chr7 | 6786766 | |||||||
| chr7:6787129 | A | G | 39 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(36): Show |
39 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(36): Show |
intron_variant | MODIFIER | c.2010+108A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787129 | |||||||
| chr7:6787204 | A | G | 1 | a0014c0017t0002g0084 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2010+183A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787204 | |||||||
| chr7:6787215 | G | A | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2010+194G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787215 | |||||||
| chr7:6787268 | A | G | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2010+247A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787268 | |||||||
| chr7:6787285 | G | A | 8 | a0002c0006t0001g0078 a0002c0025t0001g0108 a0003c0004t0001g0001 others(5): Show |
8 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.2010+264G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787285 | |||||||
| chr7:6787334 | C | T | 27 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(24): Show |
27 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(24): Show |
intron_variant | MODIFIER | c.2010+313C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787334 | |||||||
| chr7:6787355 | A | G | 1 | a0001c0001t0002g0079 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2010+334A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787355 | |||||||
| chr7:6787370 | C | A | 2 | a0002c0025t0001g0108 a0005c0019t0001g0012 |
2 | HG01884.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2010+349C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787370 | |||||||
| chr7:6787407 | T | A | 19 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(16): Show |
19 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(16): Show |
intron_variant | MODIFIER | c.2010+386T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787407 | |||||||
| chr7:6787489 | G | A | 49 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0005t0001g0022 others(46): Show |
49 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(46): Show |
intron_variant | MODIFIER | c.2010+468G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787489 | |||||||
| chr7:6787510 | T | C | 7 | a0002c0006t0001g0078 a0003c0004t0001g0001 a0003c0004t0001g0004 others(4): Show |
7 | HG02074.hp1 HG02135.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.2010+489T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787510 | |||||||
| chr7:6787673 | C | CT | 22 | a0001c0001t0003g0101 a0001c0024t0006g0014 a0002c0002t0001g0066 others(19): Show |
22 | HG00741.hp1 HG01261.hp1 HG01433.hp1 others(19): Show |
intron_variant | MODIFIER | c.2010+671dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6787673 | ||||||
| chr7:6787673 | C | CTA | 6 | a0002c0006t0001g0078 a0003c0004t0001g0001 a0003c0004t0001g0004 others(3): Show |
6 | HG02074.hp1 HG02135.hp1 HG02148.hp2 others(3): Show |
intron_variant | MODIFIER | c.2010+653_2010+654i others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6787673 | ||||||
| chr7:6787673 | C | CTT | 4 | a0002c0005t0001g0029 a0002c0025t0001g0108 a0004c0003t0001g0016 others(1): Show |
4 | HG01884.hp1 HG03942.hp2 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.2010+670_2010+671d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6787673 | ||||||
| chr7:6787673 | C | CTTT | 9 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG02602.hp2 others(6): Show |
intron_variant | MODIFIER | c.2010+669_2010+671d others(5): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6787673 | ||||||
| chr7:6787699 | G | C | 38 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(35): Show |
38 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(35): Show |
intron_variant | MODIFIER | c.2010+678G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787699 | |||||||
| chr7:6787729 | C | T | 9 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG02602.hp2 others(6): Show |
intron_variant | MODIFIER | c.2010+708C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787729 | |||||||
| chr7:6787977 | G | A | 2 | a0003c0007t0004g0091 a0011c0014t0001g0089 |
2 | HG01433.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2010+956G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6787977 | |||||||
| chr7:6788201 | C | T | 2 | a0001c0024t0006g0014 a0005c0009t0003g0090 |
2 | HG02809.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2010+1180C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788201 | |||||||
| chr7:6788312 | T | C | 42 | a0001c0001t0002g0107 a0002c0005t0001g0015 a0002c0005t0001g0022 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.2010+1291T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788312 | |||||||
| chr7:6788325 | T | A | 1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2010+1304T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788325 | |||||||
| chr7:6788360 | T | C | 2 | a0002c0005t0001g0015 a0003c0007t0004g0092 |
2 | HG00438.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2011-1271T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788360 | |||||||
| chr7:6788362 | G | A | 9 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG02602.hp2 others(6): Show |
intron_variant | MODIFIER | c.2011-1269G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788362 | |||||||
| chr7:6788450 | C | G | 2 | a0002c0005t0001g0029 a0003c0007t0004g0091 |
2 | HG01433.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.2011-1181C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788450 | |||||||
| chr7:6788487 | C | T | 1 | a0004c0003t0001g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2011-1144C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788487 | |||||||
| chr7:6788524 | C | G | 3 | a0005c0018t0001g0072 a0006c0010t0001g0034 a0006c0010t0001g0083 |
3 | HG01243.hp1 HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.2011-1107C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788524 | |||||||
| chr7:6788526 | C | T | 3 | a0002c0006t0001g0044 a0003c0007t0004g0091 a0011c0014t0001g0089 |
3 | HG01433.hp1 HG02602.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.2011-1105C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788526 | |||||||
| chr7:6788568 | C | T | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2011-1063C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788568 | |||||||
| chr7:6788574 | G | A | 5 | a0002c0005t0001g0015 a0003c0004t0001g0002 a0003c0007t0001g0077 others(2): Show |
5 | HG00438.hp1 HG02622.hp2 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.2011-1057G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788574 | |||||||
| chr7:6788646 | A | T | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2011-985A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788646 | |||||||
| chr7:6788693 | C | T | 2 | a0003c0007t0004g0091 a0011c0014t0001g0089 |
2 | HG01433.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2011-938C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788693 | |||||||
| chr7:6788776 | C | G | 40 | a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0023 others(37): Show |
40 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.2011-855C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788776 | |||||||
| chr7:6788801 | C | T | 1 | a0004c0003t0001g0019 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2011-830C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788801 | |||||||
| chr7:6788836 | T | TG | 9 | a0002c0006t0001g0078 a0003c0004t0001g0001 a0003c0004t0001g0004 others(6): Show |
9 | HG01433.hp1 HG02074.hp1 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.2011-793dupG | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6788836 | ||||||
| chr7:6788892 | G | A | 22 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(19): Show |
22 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(19): Show |
intron_variant | MODIFIER | c.2011-739G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6788892 | |||||||
| chr7:6788983 | C | CTG | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2011-632_2011-631d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6788983 | ||||||
| chr7:6788983 | C | CTGTG | 18 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(15): Show |
18 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(15): Show |
intron_variant | MODIFIER | c.2011-634_2011-631d others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6788983 | ||||||
| chr7:6788983 | C | CTGTGTGT others(1): Show |
34 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(31): Show |
34 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(31): Show |
intron_variant | MODIFIER | c.2011-638_2011-631d others(10): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6788983 | ||||||
| chr7:6788983 | C | CTGTGTGT others(3): Show |
1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2011-640_2011-631d others(12): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6788983 | ||||||
| chr7:6789145 | T | G | 1 | a0013c0016t0007g0100 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2011-486T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6789145 | |||||||
| chr7:6789256 | C | T | 38 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(35): Show |
38 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(35): Show |
intron_variant | MODIFIER | c.2011-375C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6789256 | |||||||
| chr7:6789308 | A | AT | 16 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(13): Show |
16 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.2011-315dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr7 | 6789308 | ||||||
| chr7:6789473 | T | C | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2011-158T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6789473 | |||||||
| chr7:6789552 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2011-79G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6789552 | |||||||
| chr7:6789620 | T | C | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2011-11T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 17/20 | chr7 | 6789620 | |||||||
| chr7:6789921 | G | A | 22 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(19): Show |
22 | HG00741.hp1 HG01071.hp2 HG01261.hp1 others(19): Show |
intron_variant | MODIFIER | c.2139+162G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6789921 | |||||||
| chr7:6790033 | A | G | 26 | a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0029 others(23): Show |
26 | HG00741.hp1 HG01261.hp1 HG01884.hp2 others(23): Show |
intron_variant | MODIFIER | c.2139+274A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790033 | |||||||
| chr7:6790130 | C | T | 2 | a0002c0029t0004g0095 a0015c0013t0001g0099 |
2 | HG02015.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2139+371C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790130 | |||||||
| chr7:6790131 | G | A | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2139+372G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790131 | |||||||
| chr7:6790187 | G | A | 1 | a0002c0002t0001g0036 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2139+428G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790187 | |||||||
| chr7:6790277 | T | C | 54 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(51): Show |
54 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(51): Show |
intron_variant | MODIFIER | c.2139+518T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790277 | |||||||
| chr7:6790540 | G | A | 6 | a0002c0011t0001g0041 a0003c0020t0001g0065 a0005c0018t0001g0072 others(3): Show |
6 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2139+781G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790540 | |||||||
| chr7:6790601 | G | A | 54 | a0001c0001t0002g0063 a0002c0002t0001g0011 a0002c0002t0001g0032 others(51): Show |
54 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(51): Show |
intron_variant | MODIFIER | c.2139+842G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790601 | |||||||
| chr7:6790636 | T | C | 34 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(31): Show |
34 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(31): Show |
intron_variant | MODIFIER | c.2139+877T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790636 | |||||||
| chr7:6790663 | C | T | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2139+904C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790663 | |||||||
| chr7:6790665 | A | C | 50 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(47): Show |
50 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(47): Show |
intron_variant | MODIFIER | c.2139+906A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790665 | |||||||
| chr7:6790737 | A | G | 19 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(16): Show |
19 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.2139+978A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790737 | |||||||
| chr7:6790775 | T | TA | 18 | a0002c0005t0001g0015 a0002c0006t0001g0044 a0002c0006t0001g0074 others(15): Show |
18 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(15): Show |
intron_variant | MODIFIER | c.2139+1020dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr7 | 6790775 | ||||||
| chr7:6790780 | T | A | 53 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(50): Show |
53 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(50): Show |
intron_variant | MODIFIER | c.2139+1021T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790780 | |||||||
| chr7:6790816 | G | A | 15 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(12): Show |
15 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(12): Show |
intron_variant | MODIFIER | c.2139+1057G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790816 | |||||||
| chr7:6790846 | G | A | 15 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(12): Show |
15 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(12): Show |
intron_variant | MODIFIER | c.2140-1058G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790846 | |||||||
| chr7:6790861 | C | G | 32 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(29): Show |
32 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(29): Show |
intron_variant | MODIFIER | c.2140-1043C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790861 | |||||||
| chr7:6790876 | T | C | 1 | a0006c0010t0001g0034 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2140-1028T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790876 | |||||||
| chr7:6790944 | C | T | 53 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(50): Show |
53 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(50): Show |
intron_variant | MODIFIER | c.2140-960C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790944 | |||||||
| chr7:6790975 | G | A | 19 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(16): Show |
19 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.2140-929G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6790975 | |||||||
| chr7:6790999 | A | AT | 6 | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0068 others(3): Show |
6 | HG02074.hp2 NA18747.hp1 NA18942.hp1 others(3): Show |
intron_variant | MODIFIER | c.2140-892dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr7 | 6790999 | ||||||
| chr7:6790999 | ATT | A | 14 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(11): Show |
14 | HG01071.hp2 HG01433.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.2140-893_2140-892d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr7 | 6790999 | ||||||
| chr7:6791001 | T | G | 1 | a0003c0007t0004g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2140-903T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791001 | |||||||
| chr7:6791018 | A | G | 1 | a0001c0001t0002g0046 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.2140-886A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791018 | |||||||
| chr7:6791033 | C | T | 9 | a0002c0005t0001g0015 a0002c0006t0001g0044 a0003c0004t0001g0001 others(6): Show |
9 | HG00438.hp1 HG02148.hp2 HG02602.hp2 others(6): Show |
intron_variant | MODIFIER | c.2140-871C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791033 | |||||||
| chr7:6791042 | T | C | 5 | a0002c0006t0001g0078 a0003c0004t0001g0048 a0003c0004t0001g0102 others(2): Show |
5 | HG01433.hp1 HG02074.hp1 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.2140-862T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791042 | |||||||
| chr7:6791071 | C | G | 48 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(45): Show |
48 | HG00741.hp1 HG01243.hp1 HG01261.hp1 others(45): Show |
intron_variant | MODIFIER | c.2140-833C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791071 | |||||||
| chr7:6791077 | T | C | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2140-827T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791077 | |||||||
| chr7:6791078 | T | C | 5 | a0002c0006t0001g0078 a0003c0004t0001g0003 a0003c0004t0001g0048 others(2): Show |
5 | HG02074.hp1 HG02135.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.2140-826T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791078 | |||||||
| chr7:6791079 | G | C | 11 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(8): Show |
11 | HG00438.hp1 HG01071.hp2 HG02148.hp2 others(8): Show |
intron_variant | MODIFIER | c.2140-825G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791079 | |||||||
| chr7:6791223 | C | T | 1 | a0010c0028t0005g0005 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2140-681C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791223 | |||||||
| chr7:6791247 | C | A | 14 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(11): Show |
14 | HG00438.hp1 HG01071.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.2140-657C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791247 | |||||||
| chr7:6791253 | T | C | 63 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(60): Show |
63 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(60): Show |
intron_variant | MODIFIER | c.2140-651T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791253 | |||||||
| chr7:6791307 | C | T | 19 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(16): Show |
19 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.2140-597C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791307 | |||||||
| chr7:6791308 | A | G | 20 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0006t0001g0042 others(17): Show |
20 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.2140-596A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791308 | |||||||
| chr7:6791369 | G | T | 20 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0006t0001g0042 others(17): Show |
20 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.2140-535G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791369 | |||||||
| chr7:6791410 | A | G | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2140-494A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791410 | |||||||
| chr7:6791429 | T | C | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2140-475T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791429 | |||||||
| chr7:6791510 | A | G | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2140-394A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791510 | |||||||
| chr7:6791626 | G | C | 18 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0006t0001g0042 others(15): Show |
18 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(15): Show |
intron_variant | MODIFIER | c.2140-278G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791626 | |||||||
| chr7:6791694 | A | G | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2140-210A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | chr7 | 6791694 | |||||||
| chr7:6791743 | C | CA | 10 | a0001c0001t0002g0079 a0001c0001t0002g0104 a0001c0001t0003g0094 others(7): Show |
10 | HG02074.hp1 HG02135.hp1 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.2140-141dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr7 | 6791743 | ||||||
| chr7:6791743 | C | CAA | 38 | a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0039 others(35): Show |
38 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(35): Show |
intron_variant | MODIFIER | c.2140-142_2140-141d others(4): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr7 | 6791743 | ||||||
| chr7:6791743 | C | CAAA | 7 | a0002c0002t0001g0011 a0002c0002t0001g0061 a0002c0005t0001g0043 others(4): Show |
7 | HG02135.hp2 HG02602.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2140-143_2140-141d others(5): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr7 | 6791743 | ||||||
| chr7:6791998 | G | C | 2 | a0006c0010t0001g0034 a0006c0010t0001g0083 |
2 | HG03688.hp1 HG04228.hp2 |
splice_donor_variant&intron_variant | HIGH | c.2233+1G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6791998 | |||||||
| chr7:6792199 | T | C | 52 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(49): Show |
52 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(49): Show |
intron_variant | MODIFIER | c.2233+202T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792199 | |||||||
| chr7:6792202 | GCATCACC others(1): Show |
G | 2 | a0001c0001t0002g0031 a0001c0001t0002g0033 |
2 | HG01261.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.2233+208_2233+215d others(10): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6792202 | ||||||
| chr7:6792323 | G | A | 34 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(31): Show |
34 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(31): Show |
intron_variant | MODIFIER | c.2233+326G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792323 | |||||||
| chr7:6792453 | G | A | 37 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(34): Show |
37 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(34): Show |
intron_variant | MODIFIER | c.2233+456G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792453 | |||||||
| chr7:6792486 | C | T | 37 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(34): Show |
37 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(34): Show |
intron_variant | MODIFIER | c.2233+489C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792486 | |||||||
| chr7:6792616 | G | A | 1 | a0002c0027t0005g0013 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2233+619G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792616 | |||||||
| chr7:6792634 | A | G | 43 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(40): Show |
43 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(40): Show |
intron_variant | MODIFIER | c.2233+637A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792634 | |||||||
| chr7:6792687 | T | C | 16 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(13): Show |
16 | HG00438.hp1 HG01071.hp2 HG02074.hp1 others(13): Show |
intron_variant | MODIFIER | c.2233+690T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792687 | |||||||
| chr7:6792703 | C | T | 55 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(52): Show |
55 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(52): Show |
intron_variant | MODIFIER | c.2233+706C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792703 | |||||||
| chr7:6792821 | A | G | 54 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(51): Show |
54 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(51): Show |
intron_variant | MODIFIER | c.2233+824A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792821 | |||||||
| chr7:6792954 | T | C | 4 | a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0002g0080 others(1): Show |
4 | NA18961.hp2 NA18983.hp1 NA18999.hp1 others(1): Show |
intron_variant | MODIFIER | c.2233+957T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6792954 | |||||||
| chr7:6793013 | G | A | 14 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0006t0001g0042 others(11): Show |
14 | HG00438.hp1 HG01071.hp2 HG01433.hp1 others(11): Show |
intron_variant | MODIFIER | c.2233+1016G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793013 | |||||||
| chr7:6793016 | T | C | 55 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(52): Show |
55 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(52): Show |
intron_variant | MODIFIER | c.2233+1019T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793016 | |||||||
| chr7:6793026 | T | A | 55 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(52): Show |
55 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(52): Show |
intron_variant | MODIFIER | c.2233+1029T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793026 | |||||||
| chr7:6793063 | A | AT | 5 | a0001c0001t0002g0106 a0001c0008t0002g0040 a0002c0011t0001g0041 others(2): Show |
5 | HG01071.hp1 HG01891.hp2 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.2233+1090dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6793063 | ||||||
| chr7:6793079 | TTTTTTTT others(2): Show |
T | 41 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(38): Show |
41 | HG00741.hp1 HG01261.hp1 HG01433.hp1 others(38): Show |
intron_variant | MODIFIER | c.2233+1083_2233+109 others(13): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793079 | |||||||
| chr7:6793080 | TTTTTTTT others(1): Show |
T | 14 | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0005t0001g0029 others(11): Show |
14 | HG00438.hp1 HG01071.hp2 HG02148.hp2 others(11): Show |
intron_variant | MODIFIER | c.2233+1084_2233+109 others(12): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793080 | |||||||
| chr7:6793214 | CTTTTTTT others(1): Show |
C | 56 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(53): Show |
56 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(53): Show |
intron_variant | MODIFIER | c.2233+1221_2233+122 others(12): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6793214 | ||||||
| chr7:6793306 | C | T | 57 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(54): Show |
57 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(54): Show |
intron_variant | MODIFIER | c.2233+1309C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793306 | |||||||
| chr7:6793317 | A | T | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2233+1320A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793317 | |||||||
| chr7:6793341 | T | C | 57 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(54): Show |
57 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(54): Show |
intron_variant | MODIFIER | c.2233+1344T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793341 | |||||||
| chr7:6793342 | G | A | 4 | a0002c0005t0001g0070 a0004c0003t0001g0008 a0004c0003t0001g0009 others(1): Show |
4 | HG02071.hp1 HG02135.hp2 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.2233+1345G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793342 | |||||||
| chr7:6793368 | G | T | 4 | a0002c0006t0001g0078 a0003c0004t0001g0048 a0003c0004t0001g0102 others(1): Show |
4 | HG02074.hp1 HG02135.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.2233+1371G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793368 | |||||||
| chr7:6793370 | C | T | 56 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(53): Show |
56 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(53): Show |
intron_variant | MODIFIER | c.2233+1373C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793370 | |||||||
| chr7:6793389 | A | G | 56 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(53): Show |
56 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(53): Show |
intron_variant | MODIFIER | c.2233+1392A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793389 | |||||||
| chr7:6793416 | C | T | 56 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(53): Show |
56 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(53): Show |
intron_variant | MODIFIER | c.2233+1419C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793416 | |||||||
| chr7:6793420 | G | A | 56 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(53): Show |
56 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(53): Show |
intron_variant | MODIFIER | c.2233+1423G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793420 | |||||||
| chr7:6793428 | G | C | 56 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(53): Show |
56 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(53): Show |
intron_variant | MODIFIER | c.2233+1431G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793428 | |||||||
| chr7:6793436 | T | C | 56 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(53): Show |
56 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(53): Show |
intron_variant | MODIFIER | c.2233+1439T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793436 | |||||||
| chr7:6793504 | G | C | 4 | a0002c0006t0001g0078 a0003c0004t0001g0048 a0003c0004t0001g0102 others(1): Show |
4 | HG02074.hp1 HG02135.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.2233+1507G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793504 | |||||||
| chr7:6793557 | T | C | 1 | a0001c0026t0002g0053 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2233+1560T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793557 | |||||||
| chr7:6793758 | T | C | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2233+1761T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793758 | |||||||
| chr7:6793841 | C | CA | 34 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(31): Show |
34 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(31): Show |
intron_variant | MODIFIER | c.2233+1857dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6793841 | ||||||
| chr7:6793885 | C | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2233+1888C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793885 | |||||||
| chr7:6793914 | T | TCCTTTGC others(34): Show |
4 | a0002c0006t0001g0078 a0003c0004t0001g0048 a0003c0004t0001g0102 others(1): Show |
4 | HG02074.hp1 HG02135.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.2233+2036_2233+207 others(45): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6793914 | ||||||
| chr7:6793914 | T | TCCTTTGC others(75): Show |
2 | a0002c0002t0001g0061 a0004c0003t0001g0019 |
2 | HG03492.hp2 NA18747.hp2 |
intron_variant | MODIFIER | c.2233+1995_2233+207 others(86): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6793914 | ||||||
| chr7:6793914 | T | TCCTTTGC others(321): Show |
1 | a0002c0002t0001g0032 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2233+2076_2233+207 others(332): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6793914 | ||||||
| chr7:6793914 | TCCTTTGC others(34): Show |
T | 1 | a0001c0026t0002g0053 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2233+2036_2233+207 others(45): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6793914 | ||||||
| chr7:6793949 | A | G | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2233+1952A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793949 | |||||||
| chr7:6793978 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2233+1981G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6793978 | |||||||
| chr7:6794033 | GCTCACCT others(34): Show |
G | 7 | a0001c0001t0003g0101 a0001c0008t0002g0040 a0002c0005t0001g0015 others(4): Show |
7 | HG00438.hp1 HG01071.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.2233+2077_2233+211 others(45): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6794033 | ||||||
| chr7:6794035 | T | TCACCTTT others(34): Show |
1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2233+2076_2233+207 others(45): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6794035 | ||||||
| chr7:6794074 | A | G | 63 | a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0008t0002g0045 others(60): Show |
63 | HG00642.hp1 HG00741.hp1 HG01071.hp2 others(60): Show |
intron_variant | MODIFIER | c.2233+2077A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794074 | |||||||
| chr7:6794075 | C | T | 5 | a0002c0011t0001g0041 a0005c0018t0001g0072 a0005c0019t0001g0012 others(2): Show |
5 | HG01243.hp1 HG02647.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.2233+2078C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794075 | |||||||
| chr7:6794093 | C | CATCTTGG others(75): Show |
25 | a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0049 others(22): Show |
25 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.2233+2136_2233+213 others(86): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6794093 | ||||||
| chr7:6794093 | C | CATCTTGG others(34): Show |
3 | a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 |
3 | HG01884.hp2 HG03942.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2233+2119_2233+215 others(45): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6794093 | ||||||
| chr7:6794093 | C | CATCTTGG others(75): Show |
1 | a0002c0002t0001g0011 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2233+2159_2233+216 others(86): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6794093 | ||||||
| chr7:6794093 | C | T | 5 | a0002c0005t0001g0043 a0002c0025t0001g0108 a0003c0004t0001g0003 others(2): Show |
5 | HG01884.hp1 HG01891.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.2233+2096C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794093 | |||||||
| chr7:6794108 | T | C | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2233+2111T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794108 | |||||||
| chr7:6794113 | A | G | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2233+2116A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794113 | |||||||
| chr7:6794134 | T | C | 2 | a0001c0001t0002g0107 a0002c0011t0001g0041 |
2 | HG01256.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2233+2137T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794134 | |||||||
| chr7:6794142 | GGGGCTGT others(34): Show |
G | 1 | a0013c0016t0007g0100 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2233+2157_2233+219 others(45): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6794142 | ||||||
| chr7:6794161 | C | T | 6 | a0002c0027t0005g0013 a0005c0018t0001g0072 a0005c0019t0001g0012 others(3): Show |
6 | HG01243.hp1 HG02647.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.2233+2164C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794161 | |||||||
| chr7:6794195 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2233+2198G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794195 | |||||||
| chr7:6794222 | G | A | 1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2233+2225G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794222 | |||||||
| chr7:6794246 | C | T | 35 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(32): Show |
35 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(32): Show |
intron_variant | MODIFIER | c.2233+2249C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794246 | |||||||
| chr7:6794276 | G | A | 1 | a0001c0001t0002g0067 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.2233+2279G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794276 | |||||||
| chr7:6794301 | G | A | 1 | a0001c0001t0002g0038 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2234-2267G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794301 | |||||||
| chr7:6794312 | G | T | 1 | a0002c0005t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2234-2256G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794312 | |||||||
| chr7:6794326 | T | C | 80 | a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0035 others(77): Show |
80 | HG00438.hp1 HG00642.hp1 HG00741.hp1 others(77): Show |
intron_variant | MODIFIER | c.2234-2242T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794326 | |||||||
| chr7:6794355 | G | A | 2 | a0001c0001t0002g0054 a0001c0001t0002g0055 |
2 | HG01167.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.2234-2213G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794355 | |||||||
| chr7:6794362 | C | T | 1 | a0005c0018t0001g0072 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2234-2206C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794362 | |||||||
| chr7:6794365 | C | G | 21 | a0002c0002t0001g0011 a0002c0002t0001g0039 a0002c0002t0001g0061 others(18): Show |
21 | HG00438.hp1 HG01071.hp2 HG01978.hp2 others(18): Show |
intron_variant | MODIFIER | c.2234-2203C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794365 | |||||||
| chr7:6794470 | C | T | 1 | a0001c0001t0002g0060 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2234-2098C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794470 | |||||||
| chr7:6794471 | G | A | 2 | a0005c0019t0001g0012 a0006c0010t0001g0034 |
2 | HG02647.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.2234-2097G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794471 | |||||||
| chr7:6794496 | CAG | C | 26 | a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0063 others(23): Show |
26 | HG00438.hp1 HG00438.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.2234-2071_2234-207 others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794496 | |||||||
| chr7:6794497 | A | G | 1 | a0002c0006t0001g0044 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2234-2071A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794497 | |||||||
| chr7:6794714 | G | C | 3 | a0001c0024t0006g0014 a0005c0019t0001g0012 a0011c0014t0001g0089 |
3 | HG02647.hp1 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2234-1854G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794714 | |||||||
| chr7:6794770 | C | T | 54 | a0001c0001t0002g0063 a0001c0001t0002g0073 a0001c0001t0003g0097 others(51): Show |
54 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(51): Show |
intron_variant | MODIFIER | c.2234-1798C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794770 | |||||||
| chr7:6794877 | C | T | 3 | a0001c0001t0002g0079 a0001c0001t0003g0094 a0009c0023t0002g0085 |
3 | HG02647.hp2 HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2234-1691C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794877 | |||||||
| chr7:6794939 | C | T | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2234-1629C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6794939 | |||||||
| chr7:6795004 | C | G | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2234-1564C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795004 | |||||||
| chr7:6795039 | G | GGCAGGAT others(4): Show |
30 | a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0039 others(27): Show |
30 | HG00741.hp1 HG01261.hp1 HG01433.hp1 others(27): Show |
intron_variant | MODIFIER | c.2234-1526_2234-151 others(15): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6795039 | ||||||
| chr7:6795085 | G | C | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2234-1483G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795085 | |||||||
| chr7:6795200 | G | A | 1 | a0001c0001t0003g0101 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2234-1368G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795200 | |||||||
| chr7:6795327 | G | C | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2234-1241G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795327 | |||||||
| chr7:6795374 | G | A | 2 | a0002c0012t0002g0021 a0002c0012t0002g0105 |
2 | HG01167.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.2234-1194G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795374 | |||||||
| chr7:6795494 | C | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2234-1074C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795494 | |||||||
| chr7:6795707 | G | C | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2234-861G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795707 | |||||||
| chr7:6795738 | A | G | 20 | a0001c0024t0006g0014 a0002c0002t0002g0057 a0002c0002t0002g0058 others(17): Show |
20 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.2234-830A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795738 | |||||||
| chr7:6795749 | T | A | 9 | a0001c0008t0002g0045 a0002c0006t0001g0078 a0002c0012t0002g0021 others(6): Show |
9 | HG01167.hp2 HG01433.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.2234-819T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795749 | |||||||
| chr7:6795752 | C | T | 9 | a0001c0008t0002g0045 a0002c0006t0001g0078 a0002c0012t0002g0021 others(6): Show |
9 | HG01167.hp2 HG01433.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.2234-816C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795752 | |||||||
| chr7:6795757 | T | C | 9 | a0001c0008t0002g0045 a0002c0006t0001g0078 a0002c0012t0002g0021 others(6): Show |
9 | HG01167.hp2 HG01433.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.2234-811T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795757 | |||||||
| chr7:6795777 | C | T | 3 | a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0098 |
3 | HG02622.hp1 HG02809.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.2234-791C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795777 | |||||||
| chr7:6795798 | G | A | 9 | a0001c0008t0002g0045 a0002c0006t0001g0078 a0002c0012t0002g0021 others(6): Show |
9 | HG01167.hp2 HG01433.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.2234-770G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795798 | |||||||
| chr7:6795835 | G | A | 8 | a0002c0006t0001g0078 a0002c0012t0002g0021 a0002c0012t0002g0105 others(5): Show |
8 | HG01167.hp2 HG01433.hp1 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.2234-733G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795835 | |||||||
| chr7:6795914 | AGAGT | A | 8 | a0002c0006t0001g0078 a0002c0012t0002g0021 a0002c0012t0002g0105 others(5): Show |
8 | HG01167.hp2 HG01433.hp1 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.2234-650_2234-647d others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6795914 | ||||||
| chr7:6795932 | TA | T | 23 | a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0005t0001g0015 others(20): Show |
23 | HG00438.hp1 HG01071.hp2 HG01167.hp2 others(20): Show |
intron_variant | MODIFIER | c.2234-625delA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6795932 | ||||||
| chr7:6795957 | G | T | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2234-611G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795957 | |||||||
| chr7:6795996 | A | G | 8 | a0002c0006t0001g0078 a0002c0012t0002g0021 a0002c0012t0002g0105 others(5): Show |
8 | HG01167.hp2 HG01433.hp1 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.2234-572A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6795996 | |||||||
| chr7:6796041 | T | C | 29 | a0001c0024t0006g0014 a0002c0002t0002g0057 a0002c0002t0002g0058 others(26): Show |
29 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(26): Show |
intron_variant | MODIFIER | c.2234-527T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796041 | |||||||
| chr7:6796193 | G | A | 1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2234-375G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796193 | |||||||
| chr7:6796229 | A | G | 65 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(62): Show |
65 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(62): Show |
intron_variant | MODIFIER | c.2234-339A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796229 | |||||||
| chr7:6796235 | A | G | 2 | a0002c0012t0002g0021 a0002c0012t0002g0105 |
2 | HG01167.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.2234-333A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796235 | |||||||
| chr7:6796239 | A | G | 2 | a0002c0012t0002g0021 a0002c0012t0002g0105 |
2 | HG01167.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.2234-329A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796239 | |||||||
| chr7:6796242 | A | G | 2 | a0002c0012t0002g0021 a0002c0012t0002g0105 |
2 | HG01167.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.2234-326A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796242 | |||||||
| chr7:6796245 | T | C | 2 | a0002c0012t0002g0021 a0002c0012t0002g0105 |
2 | HG01167.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.2234-323T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796245 | |||||||
| chr7:6796305 | C | T | 39 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(36): Show |
39 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(36): Show |
intron_variant | MODIFIER | c.2234-263C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796305 | |||||||
| chr7:6796314 | C | CA | 35 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(32): Show |
35 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(32): Show |
intron_variant | MODIFIER | c.2234-241dupA | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | 6796314 | ||||||
| chr7:6796432 | G | C | 33 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(30): Show |
33 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(30): Show |
intron_variant | MODIFIER | c.2234-136G>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796432 | |||||||
| chr7:6796447 | A | C | 67 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(64): Show |
67 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(64): Show |
intron_variant | MODIFIER | c.2234-121A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796447 | |||||||
| chr7:6796449 | T | C | 45 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(42): Show |
45 | HG00741.hp1 HG01071.hp2 HG01167.hp2 others(42): Show |
intron_variant | MODIFIER | c.2234-119T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796449 | |||||||
| chr7:6796506 | C | T | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2234-62C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796506 | |||||||
| chr7:6796507 | G | A | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2234-61G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796507 | |||||||
| chr7:6796540 | T | C | 35 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(32): Show |
35 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(32): Show |
intron_variant | MODIFIER | c.2234-28T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | 6796540 | |||||||
| chr7:6796806 | G | T | 76 | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0047 others(73): Show |
76 | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(73): Show |
intron_variant | MODIFIER | c.2432+40G>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6796806 | |||||||
| chr7:6796855 | T | C | 2 | a0002c0012t0002g0021 a0002c0012t0002g0105 |
2 | HG01167.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.2432+89T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6796855 | |||||||
| chr7:6796889 | T | C | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2432+123T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6796889 | |||||||
| chr7:6796933 | A | G | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2432+167A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6796933 | |||||||
| chr7:6797018 | T | C | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2432+252T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797018 | |||||||
| chr7:6797022 | T | A | 1 | a0001c0001t0002g0046 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.2432+256T>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797022 | |||||||
| chr7:6797024 | T | G | 66 | a0001c0024t0006g0014 a0002c0002t0001g0011 a0002c0002t0001g0032 others(63): Show |
66 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(63): Show |
intron_variant | MODIFIER | c.2432+258T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797024 | |||||||
| chr7:6797034 | A | G | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2432+268A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797034 | |||||||
| chr7:6797052 | A | G | 1 | a0001c0001t0002g0052 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.2432+286A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797052 | |||||||
| chr7:6797064 | A | G | 39 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(36): Show |
39 | HG00741.hp1 HG01261.hp1 HG01433.hp1 others(36): Show |
intron_variant | MODIFIER | c.2432+298A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797064 | |||||||
| chr7:6797101 | C | T | 1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2432+335C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797101 | |||||||
| chr7:6797112 | G | A | 1 | a0002c0005t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2432+346G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797112 | |||||||
| chr7:6797134 | G | A | 1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2432+368G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797134 | |||||||
| chr7:6797137 | T | C | 41 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(38): Show |
41 | HG00741.hp1 HG01261.hp1 HG01433.hp1 others(38): Show |
intron_variant | MODIFIER | c.2432+371T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797137 | |||||||
| chr7:6797149 | C | G | 41 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(38): Show |
41 | HG00741.hp1 HG01261.hp1 HG01433.hp1 others(38): Show |
intron_variant | MODIFIER | c.2432+383C>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797149 | |||||||
| chr7:6797177 | T | G | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2432+411T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797177 | |||||||
| chr7:6797197 | C | A | 38 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(35): Show |
38 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(35): Show |
intron_variant | MODIFIER | c.2432+431C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797197 | |||||||
| chr7:6797258 | C | T | 43 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(40): Show |
43 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(40): Show |
intron_variant | MODIFIER | c.2432+492C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797258 | |||||||
| chr7:6797260 | T | C | 24 | a0001c0024t0006g0014 a0002c0002t0002g0057 a0002c0002t0002g0058 others(21): Show |
24 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.2432+494T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797260 | |||||||
| chr7:6797296 | A | G | 24 | a0001c0024t0006g0014 a0002c0002t0002g0057 a0002c0002t0002g0058 others(21): Show |
24 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.2432+530A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797296 | |||||||
| chr7:6797316 | A | G | 24 | a0001c0024t0006g0014 a0002c0002t0002g0057 a0002c0002t0002g0058 others(21): Show |
24 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.2432+550A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797316 | |||||||
| chr7:6797317 | T | G | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2432+551T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797317 | |||||||
| chr7:6797368 | G | A | 42 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(39): Show |
42 | HG00741.hp1 HG01167.hp2 HG01261.hp1 others(39): Show |
intron_variant | MODIFIER | c.2432+602G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797368 | |||||||
| chr7:6797558 | C | T | 1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2432+792C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797558 | |||||||
| chr7:6797615 | T | C | 24 | a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0005t0001g0015 others(21): Show |
24 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.2433-748T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797615 | |||||||
| chr7:6797618 | T | G | 1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2433-745T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797618 | |||||||
| chr7:6797717 | T | G | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2433-646T>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797717 | |||||||
| chr7:6797845 | C | A | 19 | a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0005t0001g0015 others(16): Show |
19 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.2433-518C>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797845 | |||||||
| chr7:6797861 | A | AAATACAC others(98): Show |
2 | a0002c0002t0001g0061 a0002c0005t0001g0029 |
2 | HG03492.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.2433-500_2433-499i others(107): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797861 | ||||||
| chr7:6797861 | A | AAATACAC others(58): Show |
1 | a0003c0004t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2433-500_2433-499i others(67): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797861 | ||||||
| chr7:6797861 | A | ATACACAC others(102): Show |
1 | a0002c0005t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2433-502_2433-501i others(111): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797861 | |||||||
| chr7:6797862 | A | AATACACA others(82): Show |
1 | a0002c0011t0001g0041 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2433-500_2433-499i others(91): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(56): Show |
2 | a0001c0001t0002g0079 a0009c0023t0002g0085 |
2 | HG02647.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.2433-500_2433-499i others(65): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(48): Show |
1 | a0001c0001t0003g0094 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2433-500_2433-499i others(57): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(57): Show |
2 | a0003c0004t0001g0001 a0003c0007t0004g0092 |
2 | HG00438.hp1 HG02148.hp2 |
intron_variant | MODIFIER | c.2433-500_2433-499i others(66): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(65): Show |
6 | a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0005t0001g0015 others(3): Show |
6 | HG01243.hp2 HG02622.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2433-500_2433-499i others(74): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(67): Show |
1 | a0015c0013t0001g0099 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2433-500_2433-499i others(76): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(72): Show |
1 | a0003c0004t0001g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2433-500_2433-499i others(81): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(67): Show |
1 | a0003c0004t0004g0096 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2433-500_2433-499i others(76): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(69): Show |
1 | a0002c0006t0001g0044 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2433-500_2433-499i others(78): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(71): Show |
3 | a0002c0006t0001g0042 a0002c0006t0001g0074 a0003c0015t0001g0056 |
3 | HG01071.hp2 NA18968.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.2433-500_2433-499i others(80): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(62): Show |
3 | a0002c0006t0001g0078 a0003c0004t0001g0048 a0003c0004t0001g0102 |
3 | HG02074.hp1 HG02135.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.2433-500_2433-499i others(71): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797862 | A | AATACACA others(66): Show |
1 | a0002c0025t0001g0108 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2433-500_2433-499i others(75): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797862 | ||||||
| chr7:6797863 | A | ATACACAC others(106): Show |
1 | a0002c0002t0001g0036 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2433-500_2433-499i others(115): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797863 | A | ATACACAC others(102): Show |
1 | a0004c0003t0001g0037 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2433-500_2433-499i others(111): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797863 | A | ATACACAC others(98): Show |
10 | a0002c0002t0001g0049 a0002c0005t0001g0022 a0002c0005t0001g0023 others(7): Show |
10 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(7): Show |
intron_variant | MODIFIER | c.2433-500_2433-499i others(107): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797863 | A | ATACACAC others(96): Show |
14 | a0002c0002t0001g0011 a0002c0002t0001g0039 a0002c0002t0001g0050 others(11): Show |
14 | HG01884.hp2 HG01978.hp2 HG02015.hp1 others(11): Show |
intron_variant | MODIFIER | c.2433-500_2433-499i others(105): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797863 | A | ATACACAC others(94): Show |
1 | a0002c0002t0001g0032 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2433-500_2433-499i others(103): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797863 | A | ATACACAC others(94): Show |
1 | a0004c0003t0001g0016 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2433-500_2433-499i others(103): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797863 | A | ATACACAC others(92): Show |
2 | a0002c0011t0001g0069 a0004c0003t0001g0008 |
2 | NA18979.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.2433-500_2433-499i others(101): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797863 | A | ATACACAC others(84): Show |
1 | a0002c0002t0001g0071 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.2433-500_2433-499i others(93): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797863 | A | T | 1 | a0002c0005t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2433-500A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797863 | |||||||
| chr7:6797864 | A | AAATACAC others(72): Show |
2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2433-498_2433-497i others(81): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797864 | ||||||
| chr7:6797864 | A | ATACACAC others(4): Show |
1 | a0001c0024t0006g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2433-499_2433-498i others(13): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797864 | |||||||
| chr7:6797864 | A | ATACACAC others(54): Show |
1 | a0005c0018t0001g0072 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2433-499_2433-498i others(63): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797864 | |||||||
| chr7:6797864 | A | ATACACAC others(73): Show |
2 | a0006c0010t0001g0034 a0006c0010t0001g0083 |
2 | HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.2433-499_2433-498i others(82): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797864 | |||||||
| chr7:6797864 | A | ATACACAC others(69): Show |
1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2433-499_2433-498i others(78): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797864 | |||||||
| chr7:6797864 | A | ATACACAC others(77): Show |
1 | a0005c0019t0001g0012 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2433-499_2433-498i others(86): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797864 | |||||||
| chr7:6797864 | A | ATACACAC others(166): Show |
1 | a0011c0014t0001g0089 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2433-499_2433-498i others(175): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797864 | |||||||
| chr7:6797864 | A | C | 21 | a0001c0001t0002g0079 a0001c0001t0003g0094 a0002c0002t0002g0057 others(18): Show |
21 | HG01071.hp2 HG01243.hp2 HG01884.hp1 others(18): Show |
intron_variant | MODIFIER | c.2433-499A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797864 | |||||||
| chr7:6797864 | A | T | 6 | a0002c0002t0001g0061 a0002c0005t0001g0029 a0003c0004t0001g0001 others(3): Show |
6 | HG00438.hp1 HG01433.hp1 HG02148.hp2 others(3): Show |
intron_variant | MODIFIER | c.2433-499A>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797864 | |||||||
| chr7:6797866 | T | C | 33 | a0001c0001t0002g0079 a0001c0001t0003g0094 a0001c0024t0006g0014 others(30): Show |
33 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.2433-497T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797866 | |||||||
| chr7:6797868 | C | T | 32 | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(29): Show |
32 | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(29): Show |
intron_variant | MODIFIER | c.2433-495C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797868 | |||||||
| chr7:6797872 | C | CACACACA others(19): Show |
1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2433-475_2433-474i others(28): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6797872 | ||||||
| chr7:6797905 | A | G | 66 | a0001c0001t0002g0079 a0001c0001t0003g0094 a0001c0026t0002g0053 others(63): Show |
66 | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(63): Show |
intron_variant | MODIFIER | c.2433-458A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6797905 | |||||||
| chr7:6798108 | C | T | 1 | a0001c0001t0002g0104 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2433-255C>T | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6798108 | |||||||
| chr7:6798131 | CTCTG | C | 2 | a0002c0027t0005g0013 a0010c0028t0005g0005 |
2 | HG02818.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2433-224_2433-221d others(6): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6798131 | ||||||
| chr7:6798133 | C | CT | 17 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(14): Show |
17 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.2433-229dupT | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | 6798133 | ||||||
| chr7:6798163 | A | G | 17 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(14): Show |
17 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.2433-200A>G | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6798163 | |||||||
| chr7:6798175 | G | A | 17 | a0002c0005t0001g0015 a0002c0006t0001g0042 a0002c0006t0001g0044 others(14): Show |
17 | HG00438.hp1 HG01071.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.2433-188G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6798175 | |||||||
| chr7:6798185 | T | C | 1 | a0003c0020t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2433-178T>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6798185 | |||||||
| chr7:6798197 | G | A | 1 | a0003c0007t0004g0091 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2433-166G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6798197 | |||||||
| chr7:6798222 | G | A | 7 | a0002c0011t0001g0041 a0003c0004t0001g0003 a0003c0020t0001g0065 others(4): Show |
7 | HG01243.hp1 HG01891.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.2433-141G>A | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6798222 | |||||||
| chr7:6798331 | A | C | 1 | a0003c0004t0001g0048 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2433-32A>C | RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | 6798331 |