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 | 96144291 | A | AGAGAGAG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 NA19012.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0066 | a0001c0001t0001g0002 a0001c0001t0066g0209 |
3 | 326 | 0.0092 | 9 | c.*27 others(18): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 271 | chr8 | TogoVar | ||||||
GDF7_chr2_20662144_20684243 | 20667362 | G | GGGCGGCG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(329): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0005a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(178): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(191): Show |
332 | 338 | 0.9822 | 9 | c.141 others(16): Show |
p.Gly others(11): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 1/2 | 246/9267 | 150/1353 | 50/450 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
GDNF_chr5_37807677_37845041 | 37815487 | T | TTCCTCCT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG03017.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0076a0001c0001t0077 | a0001c0001t0010g0021 a0001c0001t0010g0046 a0001c0001t0010g0084 others(4): Show |
10 | 267 | 0.0375 | 9 | c.*15 others(18): Show |
GDNF | ENSG00000168621.15 | transcript | ENST00000326524.7 | protein_coding | 3/3 | 163 | chr5 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59261913 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01109.hp2 others(37): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0283 others(37): Show |
40 | 147 | 0.2721 | 9 | c.576 others(26): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59263483 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(283): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0039 others(283): Show |
286 | 294 | 0.9728 | 9 | c.577 others(26): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD2_chrX_70418314_70438381 | 70437149 | A | ATTATTTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0025 |
13 | 316 | 0.0411 | 9 | c.*40 others(20): Show |
GDPD2 | ENSG00000130055.14 | transcript | ENST00000374382.4 | protein_coding | 3769 | chrX | TogoVar | |||||||
GEMIN5_chr5_154882411_154943211 | 154907456 | T | TGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0014others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(247): Show |
293 | 317 | 0.9243 | 9 | c.239 others(26): Show |
GEMIN5 | ENSG00000082516.9 | transcript | ENST00000285873.8 | protein_coding | 16/27 | chr5 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38779665 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02630.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016 | a0001c0001t0002g0025 a0001c0001t0004g0045 a0001c0001t0004g0046 others(1): Show |
4 | 390 | 0.0103 | 9 | c.128 others(24): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
GET1_chr21_39375326_39402889 | 39378587 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02109.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0066 |
5 | 336 | 0.0149 | 9 | c.-17 others(20): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 1738 | chr21 | TogoVar | |||||||
GFM2_chr5_74716206_74772117 | 74748927 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02165.hp1 HG02735.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0013 | a0001c0001t0001a0003c0003t0001a0003c0013t0001 | a0001c0001t0001g0100 a0003c0003t0001g0008 a0003c0003t0001g0040 others(6): Show |
10 | 339 | 0.0295 | 9 | c.520 others(26): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 7/20 | chr5 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13410614 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0065a0001c0001t0135 | a0001c0001t0065g0058 a0001c0001t0135g0207 |
2 | 227 | 0.0088 | 9 | c.254 others(28): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFPT1_chr2_69314780_69392227 | 69367344 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0004a0001c0002t0006others(7): Show | a0001c0001t0026g0168 a0001c0002t0004g0003 a0001c0002t0004g0127 others(39): Show |
45 | 217 | 0.2074 | 9 | c.223 others(26): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 3/19 | chr2 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116064085 | C | CATCATGA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02723.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0033a0001c0002t0089 | a0001c0001t0033g0092 a0001c0002t0033g0044 a0001c0002t0089g0006 |
3 | 197 | 0.0152 | 9 | c.*31 others(18): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 11/11 | 312 | chr10 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116257772 | G | GAGACAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0031a0001c0001t0032a0002c0003t0001 | a0001c0001t0031g0134 a0001c0001t0032g0085 a0002c0003t0001g0133 |
3 | 212 | 0.0142 | 9 | c.418 others(28): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116276222 | A | AATGATGA others(2): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG03471.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0033g0092 |
3 | 153 | 0.0196 | 9 | c.-33 others(20): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 3017 | chr10 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21714246 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0063 others(4): Show |
7 | 80 | 0.0875 | 9 | c.795 others(26): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GFRA3_chr5_138247380_138279621 | 138268284 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01943.hp1 HG01975.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0098 a0001c0001t0001g0275 a0001c0001t0002g0009 others(14): Show |
19 | 30 | 0.6333 | 9 | c.92- others(24): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
GFRAL_chr6_55322469_55407493 | 55395175 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0020 a0002c0002t0003g0065 a0002c0002t0003g0091 others(3): Show |
7 | 160 | 0.0438 | 9 | c.953 others(26): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GGCX_chr2_85539720_85566493 | 85554454 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(28): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0003a0002c0002t0004a0002c0002t0009others(3): Show | a0001c0003t0003g0078 a0002c0002t0004g0005 a0002c0002t0004g0030 others(7): Show |
31 | 223 | 0.1390 | 9 | c.726 others(24): Show |
GGCX | ENSG00000115486.13 | transcript | ENST00000233838.9 | protein_coding | 6/14 | chr2 | TogoVar | |||||||
GGPS1_chr1_235323570_235349532 | 235347914 | A | AATTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0013 | a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0081 others(4): Show |
9 | 390 | 0.0231 | 9 | c.*51 others(20): Show |
GGPS1 | ENSG00000152904.11 | transcript | ENST00000282841.9 | protein_coding | 3383 | chr1 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605036 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0362 a0002c0002t0002g0298 a0002c0002t0002g0300 others(2): Show |
5 | 319 | 0.0157 | 9 | c.-42 others(28): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605051 | T | TAAAATGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01070.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0002c0002t0002a0002c0005t0012 | a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0303 others(16): Show |
19 | 406 | 0.0468 | 9 | c.-42 others(28): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34845112 | T | TCACCACC others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02080.hp1 HG03516.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0006 | a0001c0001t0006g0008 a0001c0001t0006g0034 a0001c0001t0006g0066 others(4): Show |
11 | 161 | 0.0683 | 9 | c.*20 others(18): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 15/15 | 215 | chr20 | TogoVar | ||||||
GGTLC2_chr22_22639614_22652898 | 22644882 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02818.hp2 others(9): Show |
a0001a0010 | a0001c0003a0001c0004a0001c0010others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(4): Show | a0001c0003t0001g0056 a0001c0003t0002g0067 a0001c0003t0007g0068 others(9): Show |
12 | 197 | 0.0609 | 9 | c.-35 others(24): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576099 | T | TAATAAAA others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 a0002c0002t0001g0135 |
2 | 89 | 0.0225 | 9 | c.70+ others(26): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232784386 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(24): Show |
a0001a0004 | a0001c0002a0001c0005a0001c0008others(1): Show | a0001c0002t0001a0001c0005t0001a0001c0005t0008others(3): Show | a0001c0002t0001g0196 a0001c0005t0001g0194 a0001c0005t0001g0195 others(24): Show |
27 | 108 | 0.2500 | 9 | c.533 others(26): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232799552 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02896.hp2 |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0007a0001c0002t0028a0005c0010t0007 | a0001c0002t0007g0370 a0001c0002t0028g0369 a0005c0010t0007g0374 |
3 | 34 | 0.0882 | 9 | c.163 others(28): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIMAP2_chr7_150680706_150698641 | 150686973 | A | AAAGAAAA others(2): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18946.hp2 NA18947.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045 a0002c0003t0001g0102 a0002c0003t0001g0103 |
4 | 454 | 0.0088 | 9 | c.-8- others(20): Show |
GIMAP2 | ENSG00000106560.11 | transcript | ENST00000223293.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GIMAP6_chr7_150620375_150637385 | 150634591 | T | TAATGTCT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(340): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0028 others(61): Show |
343 | 444 | 0.7725 | 9 | c.-24 others(20): Show |
GIMAP6 | ENSG00000133561.15 | transcript | ENST00000328902.9 | protein_coding | 2207 | chr7 | TogoVar | |||||||
GIMAP8_chr7_150445630_150484393 | 150446059 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(54): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0013 | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(31): Show |
57 | 228 | 0.2500 | 9 | c.-51 others(20): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 4570 | chr7 | TogoVar | |||||||
GIMD1_chr4_106352392_106373778 | 106366944 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0026 a0003c0004t0003g0054 |
4 | 432 | 0.0093 | 9 | c.393 others(22): Show |
GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
GINS1_chr20_25402673_25453563 | 25423452 | C | CTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0235 a0001c0001t0001g0236 others(21): Show |
28 | 56 | 0.5000 | 9 | c.331 others(26): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85671439 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(6): Show | a0001c0001t0002g0211 a0001c0001t0003g0018 a0001c0001t0003g0019 others(22): Show |
26 | 130 | 0.2000 | 9 | c.*67 others(20): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 4758 | chr16 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01433.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0011 | a0001c0001t0001g0001 a0001c0001t0002g0009 a0001c0001t0002g0040 others(2): Show |
6 | 88 | 0.0682 | 9 | c.*47 others(20): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14496041 | T | TCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00609.hp1 HG01884.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0043a0001c0003t0010others(1): Show | a0001c0001t0010g0296 a0001c0002t0043g0295 a0001c0003t0010g0292 others(3): Show |
6 | 199 | 0.0302 | 9 | c.-18 others(18): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 1/9 | 13066 | chr19 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78118247 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0262 a0001c0001t0003g0101 a0001c0001t0003g0116 others(10): Show |
13 | 60 | 0.2167 | 9 | c.608 others(26): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GJB1_chrX_71218224_71230516 | 71219150 | C | CTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 HG02273.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 169 | 0.0355 | 9 | c.-42 others(20): Show |
GJB1 | ENSG00000169562.13 | transcript | ENST00000361726.7 | protein_coding | 4073 | chrX | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134296836 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp2 others(149): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0143 others(134): Show |
152 | 357 | 0.4258 | 9 | c.876 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308191 | C | CATCACCA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0354 a0001c0002t0001g0353 a0001c0002t0001g0355 others(3): Show |
6 | 420 | 0.0143 | 9 | c.961 others(24): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308250 | C | CCACCACC others(2): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03041.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(1): Show |
4 | 419 | 0.0095 | 9 | c.961 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308335 | T | TCACCACC others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02717.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 others(5): Show |
8 | 327 | 0.0245 | 9 | c.961 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308393 | C | CATCACCA others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02109.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 a0001c0001t0002g0342 a0001c0001t0002g0343 |
3 | 418 | 0.0072 | 9 | c.961 others(26): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33022564 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01074.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0007 | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 others(21): Show |
24 | 50 | 0.4800 | 9 | c.114 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 11/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33042370 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0005g0393 a0001c0005t0001g0235 others(3): Show |
6 | 163 | 0.0368 | 9 | c.106 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33051615 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00639.hp2 others(23): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0001a0001c0010t0001a0001c0011t0001 | a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0001g0129 others(23): Show |
26 | 328 | 0.0793 | 9 | c.955 others(24): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33064776 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01168.hp1 others(24): Show |
a0001a0009 | a0001c0001a0001c0006a0009c0015 | a0001c0001t0001a0001c0006t0001a0009c0015t0001 | a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0101 others(24): Show |
27 | 59 | 0.4576 | 9 | c.552 others(24): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 5/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33067456 | A | ATTTTTAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(355): Show |
358 | 392 | 0.9133 | 9 | c.457 others(24): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 4/15 | chr3 | TogoVar | |||||||
GLCE_chr15_69155635_69277207 | 69273450 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0005 a0001c0001t0003g0147 a0001c0001t0003g0149 others(7): Show |
10 | 36 | 0.2778 | 9 | c.*42 others(20): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1244 | chr15 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6585892 | C | CTATCTAT others(2): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02257.hp2 HG02615.hp1 others(6): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0001c0013others(2): Show | a0001c0001t0002a0001c0005t0001a0001c0005t0010others(3): Show | a0001c0001t0002g0160 a0001c0005t0001g0165 a0001c0005t0001g0324 others(6): Show |
9 | 313 | 0.0288 | 9 | c.185 others(28): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 15/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6644029 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(49): Show |
52 | 207 | 0.2512 | 9 | c.334 others(24): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar |