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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GDF6_chr8_96137333_96165806 | 96144244 | T | TAGAGAGA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0097a0001c0001t0098 | a0001c0001t0097g0102 a0001c0001t0098g0138 |
2 | 368 | 0.0054 | 20 | c.*29 others(29): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 318 | chr8 | TogoVar | ||||||
GDF6_chr8_96137333_96165806 | 96164180 | C | CTGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0122 | 1 | 368 | 0.0027 | 20 | c.-34 others(31): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3375 | chr8 | TogoVar | |||||||
GDF6_chr8_96137333_96165806 | 96164182 | C | CTCTCTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0223 a0001c0001t0018g0005 |
2 | 368 | 0.0054 | 20 | c.-34 others(31): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3377 | chr8 | TogoVar | |||||||
GDF6_chr8_96137333_96165806 | 96164182 | C | CTCTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 HG02109.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0069a0001c0001t0073 | a0001c0001t0007g0025 a0001c0001t0069g0106 a0001c0001t0073g0065 |
3 | 368 | 0.0082 | 20 | c.-34 others(31): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3377 | chr8 | TogoVar | |||||||
GDF9_chr5_132856185_132871469 | 132856855 | T | TCTATCTA others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01943.hp1 NA20752.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004 | 4 | 464 | 0.0086 | 20 | c.*47 others(31): Show |
GDF9 | ENSG00000164404.9 | transcript | ENST00000687138.1 | protein_coding | 4329 | chr5 | TogoVar | |||||||
GDI1_chrX_154432154_154448467 | 154448072 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0002 | 1 | 283 | 0.0035 | 20 | c.*54 others(31): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 4606 | chrX | TogoVar | |||||||
GDPD1_chr17_59215511_59280970 | 59222505 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01934.hp2 HG02273.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0036 | a0001c0001t0001g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 others(2): Show |
5 | 312 | 0.0160 | 20 | c.142 others(37): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59255762 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0078 a0001c0001t0010g0156 |
2 | 312 | 0.0064 | 20 | c.368 others(37): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59255784 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02735.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0191 a0001c0001t0002g0219 |
3 | 312 | 0.0096 | 20 | c.368 others(37): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD3_chr16_30099810_30118537 | 30110860 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01516.hp2 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0077 a0001c0001t0001g0175 |
4 | 390 | 0.0103 | 20 | c.707 others(35): Show |
GDPD3 | ENSG00000102886.15 | transcript | ENST00000406256.8 | protein_coding | 7/9 | chr16 | TogoVar | |||||||
GDPD5_chr11_75429640_75530941 | 75458673 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02071.hp2 HG02683.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0095 a0001c0001t0002g0037 a0001c0001t0002g0077 others(3): Show |
6 | 322 | 0.0186 | 20 | c.222 others(35): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 4/16 | chr11 | TogoVar | |||||||
GDPD5_chr11_75429640_75530941 | 75512281 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG02040.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0092 a0001c0001t0001g0094 others(11): Show |
14 | 322 | 0.0435 | 20 | c.-14 others(41): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
GDPGP1_chr15_90229209_90250811 | 90249947 | T | TTTTATTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG02602.hp1 NA18944.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0003g0006 others(2): Show |
5 | 438 | 0.0114 | 20 | c.*78 others(31): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 4137 | chr15 | TogoVar | |||||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 424 | 0.0024 | 20 | c.486 others(37): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38773358 | T | TTTCCTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 NA18946.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0032 | a0001c0001t0009g0056 a0001c0001t0009g0062 a0001c0001t0032g0100 |
3 | 412 | 0.0073 | 20 | c.-49 others(31): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4851 | chr2 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38773368 | T | TCCTTCCT others(13): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0055 | 1 | 412 | 0.0024 | 20 | c.-49 others(31): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4841 | chr2 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38773408 | T | TCCTTCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0004 | 1 | 412 | 0.0024 | 20 | c.-48 others(31): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4801 | chr2 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38773817 | T | TTCTTTCT others(13): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0024 | 1 | 412 | 0.0024 | 20 | c.-44 others(31): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4392 | chr2 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38779664 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0127 | 1 | 412 | 0.0024 | 20 | c.128 others(35): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GET4_chr7_871554_901436 | 900620 | G | GGGGCAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0049 | 1 | 384 | 0.0026 | 20 | c.*51 others(31): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4185 | chr7 | TogoVar | |||||||
GET4_chr7_871554_901436 | 900621 | G | GGGCAAAG others(13): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0037 | a0001c0001t0002g0198 a0001c0001t0037g0213 |
2 | 384 | 0.0052 | 20 | c.*51 others(31): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4186 | chr7 | TogoVar | |||||||
GET4_chr7_871554_901436 | 900659 | A | AGGGCTGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0163 a0001c0001t0001g0195 others(19): Show |
24 | 384 | 0.0625 | 20 | c.*52 others(31): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4224 | chr7 | TogoVar | |||||||
GET4_chr7_871554_901436 | 900661 | C | CGCTGGGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(74): Show |
92 | 384 | 0.2396 | 20 | c.*52 others(31): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4226 | chr7 | TogoVar | |||||||
GFAP_chr17_44898159_44920500 | 44909098 | C | CGAAGGAA others(13): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 424 | 0.0024 | 20 | c.117 others(37): Show |
GFAP | ENSG00000131095.14 | transcript | ENST00000588735.3 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13354200 | A | AAAAAAAT others(13): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG02027.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(12): Show | a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0109 others(15): Show |
18 | 230 | 0.0783 | 20 | c.*10 others(33): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 3629 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13390780 | A | AAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02723.hp1 HG04199.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0108 a0001c0001t0001g0139 a0001c0001t0002g0085 others(5): Show |
8 | 230 | 0.0348 | 20 | c.254 others(39): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13390810 | A | AGGAAGGA others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0061a0001c0002t0060 | a0001c0001t0061g0156 a0001c0002t0060g0112 |
2 | 230 | 0.0087 | 20 | c.254 others(39): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13409088 | G | GGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03704.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0028a0001c0001t0069 | a0001c0001t0024g0113 a0001c0001t0028g0175 a0001c0001t0069g0151 |
3 | 230 | 0.0130 | 20 | c.254 others(39): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13409140 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0121 | 1 | 230 | 0.0044 | 20 | c.254 others(39): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13409179 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG02083.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0101 | a0001c0001t0001g0076 a0001c0001t0101g0117 |
2 | 230 | 0.0087 | 20 | c.254 others(39): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD2_chr16_67669536_67724316 | 67717790 | C | CGATAGAT others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0146 others(7): Show |
10 | 186 | 0.0538 | 20 | c.-88 others(37): Show |
GFOD2 | ENSG00000141098.13 | transcript | ENST00000268797.12 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG03516.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0004 | a0001c0003t0001g0189 a0001c0005t0004g0237 a0001c0005t0004g0240 |
3 | 412 | 0.0073 | 20 | c.*41 others(31): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0254 | 1 | 412 | 0.0024 | 20 | c.*41 others(31): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116092096 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0058 | 1 | 214 | 0.0047 | 20 | c.101 others(39): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116165665 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0032a0001c0001t0036 | a0001c0001t0014g0147 a0001c0001t0032g0085 a0001c0001t0036g0172 |
3 | 214 | 0.0140 | 20 | c.434 others(39): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116202708 | C | CTCGTGAG others(13): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0065 | 1 | 214 | 0.0047 | 20 | c.433 others(37): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21688456 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0235 | 1 | 322 | 0.0031 | 20 | c.*48 others(31): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 1941 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21694071 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0017 | 1 | 322 | 0.0031 | 20 | c.127 others(37): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21694075 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18959.hp2 NA18961.hp2 others(3): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0003a0002c0005t0002 | a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0109 others(3): Show |
6 | 322 | 0.0186 | 20 | c.127 others(37): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21736912 | G | GGAGGGGA others(13): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0250 | 1 | 322 | 0.0031 | 20 | c.794 others(39): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21744550 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03041.hp2 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0019a0002c0002t0015 | a0001c0001t0009g0202 a0001c0001t0019g0070 a0002c0002t0015g0004 others(2): Show |
5 | 322 | 0.0155 | 20 | c.794 others(37): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21759468 | G | GGGAAAGA others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0278 | 1 | 322 | 0.0031 | 20 | c.440 others(37): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21776037 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0001 | 1 | 322 | 0.0031 | 20 | c.356 others(35): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
GFRAL_chr6_55322469_55407493 | 55335895 | C | CTTTATTT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01346.hp1 HG03492.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0010 | a0002c0002t0001g0096 a0002c0002t0004g0094 a0002c0002t0004g0095 others(1): Show |
4 | 386 | 0.0104 | 20 | c.316 others(37): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GFRAL_chr6_55322469_55407493 | 55359164 | G | GTCTATCT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02451.hp1 HG02895.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0002a0004c0004t0002others(1): Show | a0001c0001t0001g0222 a0003c0003t0002g0154 a0004c0004t0002g0356 others(4): Show |
7 | 386 | 0.0181 | 20 | c.952 others(33): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GFUS_chr8_143607618_143622549 | 143619147 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 | 1 | 415 | 0.0024 | 20 | c.-16 others(31): Show |
GFUS | ENSG00000104522.16 | transcript | ENST00000425753.7 | protein_coding | 1599 | chr8 | TogoVar | |||||||
GFUS_chr8_143607618_143622549 | 143619147 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 415 | 0.0024 | 20 | c.-16 others(31): Show |
GFUS | ENSG00000104522.16 | transcript | ENST00000425753.7 | protein_coding | 1599 | chr8 | TogoVar | |||||||
GGA2_chr16_23458542_23515494 | 23467387 | A | AACACACA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG03225.hp1 HG04199.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0075a0002c0002t0084 | a0002c0002t0009g0196 a0002c0002t0009g0204 a0002c0002t0009g0205 others(6): Show |
9 | 254 | 0.0354 | 20 | c.*18 others(29): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 17/17 | 202 | chr16 | TogoVar | ||||||
GGA2_chr16_23458542_23515494 | 23511016 | C | CGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 NA18966.hp2 NA19057.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0015a0002c0002t0016others(2): Show | a0002c0002t0005g0192 a0002c0002t0015g0206 a0002c0002t0016g0220 others(2): Show |
5 | 254 | 0.0197 | 20 | c.-62 others(29): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 523 | chr16 | TogoVar | |||||||
GGA2_chr16_23458542_23515494 | 23511038 | T | TGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0185 | 1 | 254 | 0.0039 | 20 | c.-62 others(29): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 545 | chr16 | TogoVar |