regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FXYD3_chr19_35110823_35129324 | 35116779 | C | CAGACATT others(46): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00639.hp2 others(112): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0128a0001c0001t0001g0132others(37): Show | 115 | 414 | 0.2778 | 53 | c.-15 others(68): Show |
FXYD3 | ENSG00000089356.19 | transcript | ENST00000604404.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FXYD3_chr19_35110823_35129324 | 35116779 | C | CAGGCATT others(46): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18986.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0011a0001c0001t0003g0035 | 4 | 414 | 0.0097 | 53 | c.-15 others(68): Show |
FXYD3 | ENSG00000089356.19 | transcript | ENST00000604404.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FXYD3_chr19_35110823_35129324 | 35116782 | A | GCATTGAG others(46): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(122): Show | 278 | 414 | 0.6715 | 53 | c.-15 others(68): Show |
FXYD3 | ENSG00000089356.19 | transcript | ENST00000604404.6 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
FXYD3_chr19_35110823_35129324 | 35116823 | C | CGGGGTGT others(46): Show |
intron_variant | MODIFIER | HG03579.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 2 | 414 | 0.0048 | 53 | c.-15 others(68): Show |
FXYD3 | ENSG00000089356.19 | transcript | ENST00000604404.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GAB2_chr11_78210293_78422820 | 78407647 | A | AAGAAAGT others(46): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01943.hp2 HG01975.hp1 others(13): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0005a0001c0002t0011others(3): Show | a0001c0002t0002g0019a0001c0002t0002g0020a0001c0002t0002g0029others(13): Show | 16 | 288 | 0.0556 | 53 | c.75+ others(68): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78407651 | A | AAGTAAGT others(46): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02132.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0010a0001c0002t0002a0001c0002t0017others(1): Show | a0001c0001t0010g0027a0001c0001t0010g0079a0001c0002t0002g0017others(4): Show | 7 | 288 | 0.0243 | 53 | c.75+ others(68): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78407658 | T | TAAGAAAG others(46): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0084 | 1 | 288 | 0.0035 | 53 | c.75+ others(68): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78407658 | T | TAAGTAAG others(46): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19062.hp1 |
a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0008a0001c0010t0002g0009 | 2 | 288 | 0.0069 | 53 | c.75+ others(68): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98436286 | T | TATATATA others(46): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18969.hp2 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0001a0002c0010t0007 | a0001c0002t0001g0136a0002c0010t0007g0028 | 2 | 164 | 0.0122 | 53 | c.123 others(74): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 7/18 | chr9 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554125 | G | GTATATAT others(46): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0003 | 1 | 204 | 0.0049 | 53 | c.108 others(72): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554176 | G | GTATATAT others(46): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 204 | 0.0049 | 53 | c.108 others(72): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554176 | G | GTATATAT others(46): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 204 | 0.0049 | 53 | c.108 others(72): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30741008 | T | TTATATAT others(46): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 HG02258.hp2 others(18): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0004a0001c0001t0013a0001c0001t0022others(4): Show | a0001c0001t0004g0009a0001c0001t0004g0011a0001c0001t0004g0014others(18): Show | 21 | 282 | 0.0745 | 53 | c.139 others(74): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38686227 | T | TCCTTCCT others(46): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02523.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0025 | a0001c0001t0001g0158a0001c0001t0011g0156a0001c0001t0025g0161 | 3 | 328 | 0.0092 | 53 | c.553 others(70): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154293613 | A | ATATATAT others(46): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0001 | 1 | 236 | 0.0042 | 53 | c.160 others(70): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GAREM2_chr2_26168088_26194663 | 26171189 | A | ATCTAAAA others(46): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 306 | 0.0033 | 53 | c.-20 others(64): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 1898 | chr2 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477098 | C | CTTCCTTC others(46): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0260 | 1 | 382 | 0.0026 | 53 | c.-11 others(64): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1104 | chr20 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42579094 | G | GATAGATA others(46): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 210 | 0.0048 | 53 | c.70+ others(70): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 8029084 | C | CTTTCAAA others(46): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0144 | 1 | 416 | 0.0024 | 53 | c.696 others(70): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLIPR2_chr9_36131733_36168906 | 36133859 | C | CAGAAAAT others(46): Show |
upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 420 | 0.0024 | 53 | c.-29 others(64): Show |
GLIPR2 | ENSG00000122694.16 | transcript | ENST00000377960.9 | protein_coding | 2873 | chr9 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344354 | G | GGAGGGGA others(46): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG03195.hp2 |
a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0085a0002c0003t0016g0119 | 2 | 395 | 0.0051 | 53 | c.*68 others(64): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4760 | chr16 | TogoVar | ||||||
GLOD4_chr17_754330_787280 | 768750 | T | TTTTTAGA others(46): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 420 | 0.0024 | 53 | c.831 others(70): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849452 | T | TTTCCTTT others(46): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 284 | 0.0035 | 53 | c.912 others(70): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849452 | T | TTTCCTTT others(46): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 284 | 0.0035 | 53 | c.912 others(70): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849458 | T | TTCCTTTC others(46): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0166 | 1 | 284 | 0.0035 | 53 | c.912 others(70): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14681911 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0228 | 1 | 232 | 0.0043 | 53 | c.931 others(70): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | chrX | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16266336 | T | TGTGCCAC others(46): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0294a0001c0003t0001g0295a0001c0003t0001g0296others(2): Show | 5 | 344 | 0.0145 | 53 | c.466 others(70): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GMPR_chr6_16233587_16300549 | 16266338 | C | CGCCACCT others(46): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0293a0001c0003t0002g0226a0001c0003t0003g0290others(3): Show | 6 | 344 | 0.0174 | 53 | c.466 others(70): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GNA12_chr7_2723105_2849308 | 2750694 | C | CGGGGGAC others(46): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 322 | 0.0031 | 53 | c.526 others(72): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(46): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 336 | 0.0030 | 53 | c.-95 others(72): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(46): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0132 | 1 | 366 | 0.0027 | 53 | c.*56 others(64): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(46): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0198 | a0001c0001t0198g0351 | 1 | 366 | 0.0027 | 53 | c.*56 others(64): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(46): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0185a0001c0001t0186 | a0001c0001t0185g0228a0001c0001t0186g0349 | 2 | 366 | 0.0055 | 53 | c.*56 others(64): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(46): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0174 | a0001c0001t0174g0331 | 1 | 366 | 0.0027 | 53 | c.*56 others(64): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(46): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0178 | a0001c0001t0178g0226 | 1 | 366 | 0.0027 | 53 | c.*56 others(64): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(46): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0334a0001c0001t0031g0340 | 2 | 366 | 0.0055 | 53 | c.*56 others(64): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNG2_chr14_51855612_51974795 | 51942589 | C | CTTTCTTT others(46): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0182 | 1 | 380 | 0.0026 | 53 | c.-29 others(70): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GNG2_chr14_51855612_51974795 | 51942592 | T | TCTTTCTT others(46): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18946.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0112a0001c0001t0001g0180 | 3 | 380 | 0.0079 | 53 | c.-29 others(70): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55033404 | A | ACGGTGGG others(46): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG02615.hp2 others(3): Show |
a0001a0002a0022 | a0001c0001a0002c0004a0022c0032 | a0001c0001t0001a0002c0004t0001a0022c0032t0002 | a0001c0001t0001g0160a0001c0001t0001g0242a0001c0001t0001g0243others(3): Show | 6 | 441 | 0.0136 | 53 | c.35- others(66): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217524904 | G | GGGGGAGG others(46): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0149 | 1 | 188 | 0.0053 | 53 | c.109 others(74): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93439699 | T | TAAAATAA others(46): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0007 | 1 | 76 | 0.0132 | 53 | c.161 others(74): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC6_chr13_93221807_94413020 | 93684532 | A | AAAGATTA others(46): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039 | 1 | 76 | 0.0132 | 53 | c.319 others(74): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPR139_chr16_20023239_20078890 | 20041152 | A | AGAGGAGA others(46): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 364 | 0.0028 | 53 | c.128 others(70): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
GPR139_chr16_20023239_20078890 | 20041152 | A | AGAGGAGA others(46): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 364 | 0.0028 | 53 | c.128 others(70): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
GPRC5D_chr12_12935575_12957170 | 12942395 | C | CGGGGGGG others(46): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 406 | 0.0025 | 53 | c.896 others(66): Show |
GPRC5D | ENSG00000111291.9 | transcript | ENST00000228887.6 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGGT others(46): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 NA18991.hp1 NA19080.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0029a0001c0001t0001g0077a0001c0003t0001g0141 | 4 | 397 | 0.0101 | 53 | c.*50 others(64): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591787 | G | GTGGTGTT others(46): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0013a0001c0003t0001g0097a0001c0003t0001g0125 | 6 | 397 | 0.0151 | 53 | c.*49 others(64): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4014 | chr5 | TogoVar | ||||||
GRAMD1C_chr3_113833788_113952174 | 113911696 | T | TTTCCTTC others(46): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01433.hp1 HG01943.hp1 others(16): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0177a0001c0001t0001g0182a0001c0001t0002g0175others(16): Show | 19 | 324 | 0.0586 | 53 | c.952 others(70): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRAMD1C_chr3_113833788_113952174 | 113911696 | T | TTTCCTTC others(46): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG03710.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(2): Show | a0001c0001t0001g0163a0001c0001t0008g0315a0001c0001t0014g0088others(3): Show | 6 | 324 | 0.0185 | 53 | c.952 others(70): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRIA3_chrX_123179278_123495915 | 123260487 | A | AGGAAGGA others(46): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 207 | 0.0048 | 53 | c.508 others(70): Show |
GRIA3 | ENSG00000125675.20 | transcript | ENST00000620443.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar |