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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNS_chr16_88808734_88861947 | 88831603 | A | AGGAGAGC others(30): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0014 | a0014c0027 | a0014c0027t0002 | a0014c0027t0002g0120 | 1 | 365 | 0.0027 | 37 | c.100 others(54): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0004 | 1 | 36 | 0.0278 | 37 | c.142 others(56): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154155944 | A | ATATATTT others(30): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0113 | 1 | 212 | 0.0047 | 37 | c.311 others(56): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71265118 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03710.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0008 | a0001c0001t0004g0038 a0001c0002t0008g0025 |
2 | 26 | 0.0769 | 37 | c.239 others(56): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77281091 | A | ATATATAT others(30): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0038 | 1 | 355 | 0.0028 | 37 | c.*12 others(50): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3192 | chr18 | TogoVar | |||||||
GAP43_chr3_115618510_115726483 | 115698247 | A | ATTATATA others(30): Show |
intron_variant | MODIFIER | HG01109.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0345 a0001c0001t0013g0219 |
2 | 298 | 0.0067 | 37 | c.628 others(56): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
GAP43_chr3_115618510_115726483 | 115698287 | A | AATATATA others(30): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 11 | 0.0909 | 37 | c.628 others(56): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115698287 | A | AATATATA others(30): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 11 | 0.0909 | 37 | c.628 others(56): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125293630 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 a0001c0001t0002g0313 |
2 | 330 | 0.0061 | 37 | c.-14 others(56): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125293660 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 338 | 0.0030 | 37 | c.-14 others(56): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARIN1A_chr7_128667292_128692877 | 128689807 | G | GCCAGCCG others(30): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0118 a0001c0001t0022g0119 |
2 | 426 | 0.0047 | 37 | c.*66 others(48): Show |
GARIN1A | ENSG00000205085.13 | transcript | ENST00000682356.1 | protein_coding | 1931 | chr7 | TogoVar | |||||||
GARIN5B_chr19_55349908_55368260 | 55360531 | T | TCCTCCTC others(30): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0025 | a0025c0032 | a0025c0032t0002 | a0025c0032t0002g0052 | 1 | 354 | 0.0028 | 37 | c.888 others(52): Show |
GARIN5B | ENSG00000180043.11 | transcript | ENST00000424985.3 | protein_coding | 8/10 | chr19 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62471432 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02056.hp2 HG02293.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0004t0036others(1): Show | a0001c0002t0001g0139 a0001c0002t0002g0108 a0001c0004t0036g0092 others(1): Show |
4 | 125 | 0.0320 | 37 | c.699 others(54): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62476945 | C | CCCTCTCT others(30): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0015 | 1 | 365 | 0.0027 | 37 | c.-10 others(48): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 951 | chr20 | TogoVar | |||||||
GATA6_chr18_22164589_22207528 | 22199726 | A | AACCCCGT others(30): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 284 | 0.0035 | 37 | c.162 others(54): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10582288 | A | AATATATA others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0005 a0001c0001t0001g0089 a0001c0001t0001g0090 others(7): Show |
10 | 321 | 0.0312 | 37 | c.926 others(56): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10582288 | A | AATATATA others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0189 others(8): Show |
11 | 341 | 0.0323 | 37 | c.919 others(56): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCSH_chr16_81076945_81101395 | 81086809 | G | GTTAGGGT others(30): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(62): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(5): Show | a0001c0001t0001g0093 a0001c0001t0002g0091 a0001c0001t0002g0116 others(23): Show |
65 | 352 | 0.1847 | 37 | c.292 others(52): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 3/4 | chr16 | TogoVar | |||||||
GET4_chr7_871554_901436 | 882577 | A | AGGGATGG others(30): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02615.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0010a0001c0017 | a0001c0001t0009a0001c0010t0025a0001c0010t0026others(2): Show | a0001c0001t0009g0159 a0001c0010t0025g0057 a0001c0010t0026g0056 others(2): Show |
5 | 322 | 0.0155 | 37 | c.156 others(54): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13409132 | A | AGAAAGAA others(30): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0058 | 1 | 226 | 0.0044 | 37 | c.254 others(56): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031 | 1 | 199 | 0.0050 | 37 | c.*41 others(48): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 | 1 | 199 | 0.0050 | 37 | c.*41 others(48): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFY_chr19_49420388_49433987 | 49427666 | A | ACTCCTGG others(30): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0019 |
7 | 448 | 0.0156 | 37 | c.118 others(52): Show |
GFY | ENSG00000261949.7 | transcript | ENST00000610896.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GFY_chr19_49420388_49433987 | 49427714 | C | CGAGGGAG others(30): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 190 | 0.0053 | 37 | c.118 others(54): Show |
GFY | ENSG00000261949.7 | transcript | ENST00000610896.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GIMAP1_chr7_150711613_150729284 | 150713537 | G | GACAAAGT others(30): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 432 | 0.0023 | 37 | c.-31 others(48): Show |
GIMAP1 | ENSG00000213203.3 | transcript | ENST00000307194.6 | protein_coding | 3075 | chr7 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18999.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 3 | 165 | 0.0182 | 37 | c.205 others(54): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GJB6_chr13_20216962_20237319 | 20218592 | C | CTTTCTTT others(30): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01106.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(23): Show |
30 | 271 | 0.1107 | 37 | c.*41 others(48): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 3369 | chr13 | TogoVar | |||||||
GJB6_chr13_20216962_20237319 | 20218592 | C | CTTTCTTT others(30): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG03540.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0009 a0001c0001t0002g0039 a0001c0001t0002g0077 others(1): Show |
4 | 245 | 0.0163 | 37 | c.*41 others(48): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 3369 | chr13 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAAAAAGT others(30): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0326 | 1 | 73 | 0.0137 | 37 | c.775 others(54): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTATAT others(30): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 73 | 0.0137 | 37 | c.775 others(54): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542756 | A | AGGAAGGA others(30): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG02273.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0051others(1): Show | a0001c0002t0003g0051 a0001c0002t0004g0013 a0001c0002t0004g0015 others(3): Show |
6 | 323 | 0.0186 | 37 | c.439 others(56): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542760 | A | AGGAAGGA others(30): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01943.hp1 HG01975.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0048 | a0001c0002t0003g0044 a0001c0002t0004g0003 a0001c0002t0004g0012 others(4): Show |
7 | 312 | 0.0224 | 37 | c.439 others(56): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542762 | G | GAAGGAAG others(30): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0062 a0001c0003t0003g0070 |
2 | 304 | 0.0066 | 37 | c.439 others(56): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542781 | G | GGAAGGAA others(30): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0052 | 1 | 340 | 0.0029 | 37 | c.439 others(56): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLI4_chr8_143262445_143281931 | 143264628 | T | TGGCTCTG others(30): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(17): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0009 a0003c0004t0002g0012 a0003c0004t0002g0041 others(5): Show |
20 | 392 | 0.0510 | 37 | c.-28 others(48): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 2816 | chr8 | TogoVar | |||||||
GLI4_chr8_143262445_143281931 | 143264656 | T | TTTGCACT others(30): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(335): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0005others(10): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(15): Show | a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 others(110): Show |
338 | 372 | 0.9086 | 37 | c.-28 others(48): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 2788 | chr8 | TogoVar | |||||||
GLOD4_chr17_754330_787280 | 769497 | A | AGAGAGCT others(30): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0245 |
2 | 418 | 0.0048 | 37 | c.831 others(52): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar | |||||||
GLOD4_chr17_754330_787280 | 769588 | G | GGATGGAG others(30): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01123.hp1 HG02135.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0243 a0001c0001t0001g0244 others(13): Show |
18 | 416 | 0.0433 | 37 | c.831 others(52): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar | |||||||
GLOD5_chrX_48756747_48778648 | 48766985 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18964.hp1 NA18990.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0030 a0001c0001t0002g0148 a0001c0004t0001g0030 |
3 | 12 | 0.2500 | 37 | c.201 others(54): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849454 | T | TCCTTCCC others(30): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18973.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0008t0001g0178 |
3 | 259 | 0.0116 | 37 | c.912 others(54): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849458 | T | TCCCTCCC others(30): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 211 | 0.0047 | 37 | c.912 others(54): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849458 | T | TTCCTTTC others(30): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03130.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0002g0267 |
3 | 213 | 0.0141 | 37 | c.912 others(54): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849462 | T | TTCCTTTC others(30): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 245 | 0.0041 | 37 | c.912 others(54): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14681904 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 221 | 0.0045 | 37 | c.931 others(54): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | chrX | TogoVar | |||||||
GLS2_chr12_56465952_56493161 | 56492071 | A | ACCAGCTG others(30): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 360 | 0.0028 | 37 | c.-39 others(48): Show |
GLS2 | ENSG00000135423.13 | transcript | ENST00000311966.9 | protein_coding | 3911 | chr12 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128853225 | C | CTGGTCCT others(30): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0293 | 1 | 318 | 0.0031 | 37 | c.-35 others(46): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 252 | chr12 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128971670 | C | CCCCCCTC others(30): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 318 | 0.0031 | 37 | c.880 others(56): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128971746 | C | CCCCCATC others(30): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 290 | 0.0034 | 37 | c.880 others(56): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128971746 | C | CCCCCCTC others(30): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01993.hp1 HG02155.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0219 a0001c0001t0001g0273 others(5): Show |
8 | 297 | 0.0269 | 37 | c.880 others(56): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128971746 | C | CCCCCCTC others(30): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 a0001c0001t0005g0135 |
2 | 291 | 0.0069 | 37 | c.880 others(56): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |