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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GK_chrX_30648423_30736462 | 30664119 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 284 | 0.0035 | 35 | c.79- others(50): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30664125 | G | GATATATA others(28): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 67 | 0.0149 | 35 | c.79- others(50): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLDN_chr15_51336655_51413000 | 51353734 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0051 | 1 | 250 | 0.0040 | 35 | c.363 others(54): Show |
GLDN | ENSG00000186417.15 | transcript | ENST00000335449.11 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTATAT others(28): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02698.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0135 others(2): Show |
5 | 77 | 0.0649 | 35 | c.775 others(52): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTATAT others(28): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 73 | 0.0137 | 35 | c.775 others(52): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTGTAT others(28): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0067 | 1 | 73 | 0.0137 | 35 | c.775 others(52): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542708 | G | GGAAGGGA others(28): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0279 | 1 | 121 | 0.0083 | 35 | c.439 others(54): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74542708 | G | GGAAGGGA others(28): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01123.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0091 a0001c0001t0001g0230 a0001c0001t0001g0238 others(22): Show |
25 | 145 | 0.1724 | 35 | c.439 others(54): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38705348 | C | CTTTCTTT others(28): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 2 | 405 | 0.0049 | 35 | c.-22 others(46): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 2204 | chr6 | TogoVar | |||||||
GLOD5_chrX_48756747_48778648 | 48766985 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03490.hp1 NA18747.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0091 |
3 | 12 | 0.2500 | 35 | c.201 others(52): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLOD5_chrX_48756747_48778648 | 48766985 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 10 | 0.1000 | 35 | c.201 others(52): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849367 | C | CTTCCTTT others(28): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 a0001c0001t0002g0280 |
2 | 281 | 0.0071 | 35 | c.912 others(52): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849376 | G | GTTTCCTT others(28): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18975.hp1 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0238 others(1): Show |
4 | 222 | 0.0180 | 35 | c.912 others(52): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14681910 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 107 | 0.0093 | 35 | c.931 others(52): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | chrX | TogoVar | |||||||
GLRB_chr4_157071150_157177090 | 157173886 | G | GTGTGTGC others(28): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 304 | 0.0033 | 35 | c.*31 others(46): Show |
GLRB | ENSG00000109738.11 | transcript | ENST00000264428.9 | protein_coding | 1797 | chr4 | TogoVar | |||||||
GMCL2_chr5_178179505_178192371 | 178187475 | A | ATTTTTTT others(28): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG02040.hp1 others(4): Show |
a0002a0010 | a0002c0002a0010c0010 | a0002c0002t0002a0010c0010t0002 | a0002c0002t0002g0000 a0010c0010t0002g0000 |
7 | 32 | 0.2188 | 35 | c.-17 others(44): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 105 | chr5 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63607574 | C | CCACATCC others(28): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0131 | 1 | 226 | 0.0044 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63607746 | C | CACACATC others(28): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0008a0001c0005t0025 | a0001c0005t0003g0107 a0001c0005t0008g0271 a0001c0005t0008g0272 others(2): Show |
5 | 320 | 0.0156 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63607777 | A | ACCTCACC others(28): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18522.hp1 |
a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0034 a0001c0007t0007g0035 |
2 | 327 | 0.0061 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608009 | C | CCCCTCTG others(28): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0124 | 1 | 310 | 0.0032 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608113 | C | CCTCTGAC others(28): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0008 | a0001c0005t0003g0107 a0001c0005t0008g0274 |
2 | 98 | 0.0204 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608185 | A | ACCCCACA others(28): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 310 | 0.0032 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608329 | A | ACATCCAT others(28): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19043.hp2 |
a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0031 a0001c0005t0012g0032 |
2 | 277 | 0.0072 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608359 | C | CACACCTC others(28): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0086 | 1 | 300 | 0.0033 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608418 | C | CCTCTGAC others(28): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0093 | 1 | 186 | 0.0054 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608456 | A | ACTCACCT others(28): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0086 | 1 | 317 | 0.0032 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608765 | C | CCACCTCC others(28): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0033 | 1 | 299 | 0.0033 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608967 | A | ACCCACAC others(28): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0128 | 1 | 108 | 0.0093 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608967 | A | ACCCCACC others(28): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0018a0001c0004t0019 | a0001c0004t0004g0082 a0001c0004t0004g0088 a0001c0004t0004g0089 others(8): Show |
11 | 118 | 0.0932 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63609387 | C | CTCCATTT others(28): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0149 | 1 | 286 | 0.0035 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63609417 | C | CCACACAT others(28): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0022 a0001c0001t0001g0116 a0001c0001t0001g0117 others(3): Show |
7 | 275 | 0.0255 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63609550 | A | ACCCCACC others(28): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02897.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0011 a0001c0004t0004g0084 a0001c0004t0004g0087 |
4 | 298 | 0.0134 | 35 | c.132 others(52): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMFG_chr19_39323359_39341043 | 39326702 | A | AGGGGGGG others(28): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 224 | 0.0045 | 35 | c.*17 others(46): Show |
GMFG | ENSG00000130755.13 | transcript | ENST00000597595.6 | protein_coding | 1656 | chr19 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2812636 | A | AACATCAC others(28): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0311 | 1 | 107 | 0.0093 | 35 | c.310 others(54): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3140044 | A | AAAAATCT others(28): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0340 | 1 | 33 | 0.0303 | 35 | c.145 others(52): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52111173 | A | ACACACAC others(28): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0163 | a0001c0001t0163g0236 | 1 | 46 | 0.0217 | 35 | c.*11 others(48): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 3926 | chr15 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795536 | C | CCCCCCGT others(28): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02080.hp2 HG02602.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 a0001c0002t0003g0032 |
16 | 271 | 0.0590 | 35 | c.*31 others(46): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2504 | chr16 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235650265 | G | GGGTCTGG others(28): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(137): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(71): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 others(137): Show |
140 | 141 | 0.9929 | 35 | c.-72 others(44): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 482 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2655859 | A | AAAAATAT others(28): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0010 | 1 | 189 | 0.0053 | 35 | c.-13 others(54): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNL3_chr3_52681032_52699497 | 52683812 | T | TCTCCAAA others(28): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(180): Show |
a0002a0003a0004others(5): Show | a0002c0002a0002c0006a0003c0003others(8): Show | a0002c0002t0002a0002c0006t0002a0003c0003t0003others(8): Show | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0012 others(48): Show |
183 | 391 | 0.4680 | 35 | c.-22 others(46): Show |
GNL3 | ENSG00000163938.17 | transcript | ENST00000418458.6 | protein_coding | 2219 | chr3 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833180 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 NA19060.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0003 | a0001c0001t0004g0245 a0001c0003t0003g0146 |
2 | 217 | 0.0092 | 35 | c.-25 others(46): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2222 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | AAATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA18747.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0004 | a0001c0001t0004g0233 a0001c0008t0004g0216 |
2 | 46 | 0.0435 | 35 | c.-25 others(46): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 45 | 0.0222 | 35 | c.-25 others(46): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132768466 | T | TTAATGAC others(28): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 NA18956.hp1 NA18957.hp2 others(4): Show |
a0001 | a0001c0003a0001c0019 | a0001c0003t0004a0001c0003t0011a0001c0019t0004 | a0001c0003t0004g0205 a0001c0003t0004g0206 a0001c0003t0004g0219 others(4): Show |
7 | 306 | 0.0229 | 35 | c.*46 others(46): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 447 | chr12 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34422730 | C | CTTCGCTC others(28): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 244 | 0.0041 | 35 | c.-11 others(58): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | |||||||
GOLGA8O_chr15_32436914_32460634 | 32445679 | A | ATATTAGC others(28): Show |
frameshift_variant others(1): Show |
HIGH | HG02976.hp1 | a0029 | a0029c0051 | a0029c0051t0007 | a0029c0051t0007g0164 | 1 | 214 | 0.0047 | 35 | c.150 others(44): Show |
p.Ala others(5): Show |
GOLGA8O | ENSG00000206127.11 | transcript | ENST00000509311.7 | protein_coding | 17/19 | 1603/5189 | 1505/1899 | 502/632 | chr15 | TogoVar | |||
GPAT3_chr4_83531108_83610875 | 83562214 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0309 | 1 | 212 | 0.0047 | 35 | c.208 others(54): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83578948 | T | TTTCTTTC others(28): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 76 | 0.0132 | 35 | c.209 others(52): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217524904 | G | GGGGGAGG others(28): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 115 | 0.0087 | 35 | c.109 others(56): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0219 | 1 | 106 | 0.0094 | 35 | c.46- others(50): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar |