| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | 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 | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GPIHBP1_chr8_143208218_143222170 | 143218186 | C | CCCCAACA others(735): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 93 | 0.0108 | 742 | c.*26 others(753): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1017 | chr8 | TogoVar | |||||||
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(735): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0148 | 1 | 95 | 0.0105 | 742 | c.-97 others(759): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074115 | T | TATATATA others(735): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0128 | 1 | 169 | 0.0059 | 742 | c.-97 others(759): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322505 | A | AAAAAAAA others(735): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 153 | 0.0065 | 742 | c.-37 others(753): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3710 | chrX | TogoVar | |||||||
| GTPBP6_chrX_299759_323796 | 322506 | A | AAAAAAAA others(735): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 152 | 0.0066 | 742 | c.-37 others(753): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3711 | chrX | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(735): Show |
upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 62 | 0.0161 | 742 | c.-21 others(753): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(735): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0147 | 1 | 62 | 0.0161 | 742 | c.-21 others(753): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
| KREMEN1_chr22_29068035_29151820 | 29120451 | G | GGGAGGAG others(735): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0004 | a0003c0004t0051 | a0003c0004t0051g0021 | 1 | 366 | 0.0027 | 742 | c.353 others(757): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(735): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0165 | 1 | 31 | 0.0323 | 742 | c.956 others(759): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
| LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(735): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0048 | a0048c0111 | a0048c0111t0001 | a0048c0111t0001g0136 | 1 | 31 | 0.0323 | 742 | c.956 others(759): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(735): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0203 | 1 | 207 | 0.0048 | 742 | c.126 others(759): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(735): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 80 | 0.0125 | 742 | c.125 others(759): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(735): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 170 | 0.0059 | 742 | c.-30 others(753): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(735): Show |
upstream_gene_variant | MODIFIER | NA18961.hp2 NA18995.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 172 | 0.0174 | 742 | c.-30 others(753): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(735): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 170 | 0.0059 | 742 | c.-30 others(753): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(735): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 8 | 0.1250 | 742 | c.250 others(757): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535597 | A | AGGGGCAA others(735): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02004.hp2 HG02257.hp1 |
a0001 | a0001c0002a0001c0029 | a0001c0002t0005a0001c0029t0006 | a0001c0002t0005g0070 a0001c0029t0006g0066 a0001c0029t0006g0068 |
3 | 262 | 0.0115 | 742 | c.140 others(759): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| ODF3L2_chr19_458361_479983 | 473242 | G | GGGGAAAC others(735): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0083 | 1 | 293 | 0.0034 | 742 | c.128 others(757): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
| OR2T1_chr1_248398048_248413020 | 248408743 | T | TAGATAGC others(735): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 264 | 0.0038 | 742 | c.*16 others(753): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 724 | chr1 | TogoVar | |||||||
| OSGIN1_chr16_83948240_83971332 | 83950351 | A | ACACACGT others(735): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 332 | 0.0030 | 742 | c.-30 others(753): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2888 | chr16 | TogoVar | |||||||
| OSGIN1_chr16_83948240_83971332 | 83950351 | A | ACACACGT others(735): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01346.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 |
3 | 334 | 0.0090 | 742 | c.-30 others(753): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2888 | chr16 | TogoVar | |||||||
| PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(735): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 177 | 0.0056 | 742 | c.471 others(757): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PCNT_chr21_46319156_46450769 | 46383983 | A | ATGTTGTA others(735): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03654.hp2 |
a0002a0018 | a0002c0002a0018c0031 | a0002c0002t0001a0018c0031t0001 | a0002c0002t0001g0064 a0018c0031t0001g0065 |
2 | 324 | 0.0062 | 742 | c.331 others(761): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 100345 | T | TCTGTAGG others(735): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0006 | a0006c0068 | a0006c0068t0047 | a0006c0068t0047g0194 | 1 | 207 | 0.0048 | 742 | c.45+ others(757): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 100356 | A | AAGACTGT others(735): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18906.hp1 |
a0013 | a0013c0027a0013c0066 | a0013c0027t0052a0013c0066t0051 | a0013c0027t0052g0170 a0013c0066t0051g0169 |
2 | 203 | 0.0099 | 742 | c.45+ others(757): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 101748 | T | TAATCCAT others(735): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0008 | a0008c0025 | a0008c0025t0062 | a0008c0025t0062g0173 | 1 | 198 | 0.0051 | 742 | c.45+ others(757): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLXNB2_chr22_50269979_50312646 | 50285652 | A | ACCGGCCG others(735): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02630.hp2 |
a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0259 a0002c0014t0003g0260 |
2 | 215 | 0.0093 | 742 | c.208 others(759): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
| PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(735): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG01516.hp1 HG01517.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0015 | 3 | 201 | 0.0149 | 742 | c.-46 others(753): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
| RABL6_chr9_136802948_136846187 | 136803012 | G | GGGGGCCC others(735): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0236 | 1 | 315 | 0.0032 | 742 | c.-51 others(753): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4935 | chr9 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(735): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 |
3 | 11 | 0.2727 | 742 | c.449 others(757): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(735): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 9 | 0.1111 | 742 | c.449 others(757): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(735): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 a0002c0002t0001g0283 |
2 | 127 | 0.0157 | 742 | c.45- others(757): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(735): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0146 | 1 | 121 | 0.0083 | 742 | c.59- others(759): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
| SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(735): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02897.hp1 |
a0002 | a0002c0041a0002c0066 | a0002c0041t0007a0002c0066t0023 | a0002c0041t0007g0108 a0002c0066t0023g0088 |
2 | 46 | 0.0435 | 742 | c.332 others(761): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(735): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0157 | 1 | 105 | 0.0095 | 742 | c.284 others(761): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(735): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0035 | 1 | 45 | 0.0222 | 742 | c.22+ others(759): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 433848 | T | TAGATGGC others(735): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0071 | 1 | 171 | 0.0058 | 742 | c.111 others(759): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
| SHC2_chr19_411589_466033 | 433848 | T | TAGATGGC others(735): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01952.hp1 HG03017.hp1 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0003a0002c0012a0006c0010others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(3): Show | a0001c0003t0001g0063 a0001c0003t0002g0001 a0001c0003t0002g0062 others(8): Show |
12 | 182 | 0.0659 | 742 | c.111 others(759): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
| SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATTG others(735): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0066 | 1 | 143 | 0.0070 | 742 | c.176 others(759): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 246072010 | G | GTTAGTTC others(735): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0132 | 1 | 45 | 0.0222 | 742 | c.532 others(763): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747727 | C | CGGGAGGC others(735): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0110 | 1 | 267 | 0.0037 | 742 | c.189 others(757): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TRAPPC9_chr8_139722725_140462744 | 140156981 | C | CTTTTCCA others(735): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 59 | 0.0169 | 742 | c.255 others(763): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
| TWIST2_chr2_238843085_238915534 | 238870213 | C | CCCCCCAC others(735): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 281 | 0.0036 | 742 | c.*35 others(761): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(735): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0138 | 1 | 99 | 0.0101 | 742 | c.392 others(759): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
| TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(735): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0141 | 1 | 99 | 0.0101 | 742 | c.392 others(759): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
| VGLL4_chr3_11551069_11648915 | 11605172 | G | GCCCACCC others(735): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0131 | 1 | 246 | 0.0041 | 742 | c.83- others(757): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
| VIPR2_chr7_159023175_159149867 | 159071924 | C | CGCTAGAC others(735): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0101 a0001c0001t0001g0293 a0001c0001t0001g0294 others(2): Show |
5 | 334 | 0.0150 | 742 | c.358 others(761): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
| ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(736): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0150 | 1 | 293 | 0.0034 | 743 | c.170 others(764): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| APBA2_chr15_28880974_29123315 | 29063355 | A | AGGGAGTT others(736): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0125 | 1 | 182 | 0.0055 | 743 | c.951 others(760): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(736): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 5 | 0.2000 | 743 | c.927 others(760): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar |