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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GGA3_chr17_75231599_75266606 | 75248468 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0268 a0001c0001t0002g0064 |
2 | 364 | 0.0055 | 20 | c.41- others(35): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
GGCT_chr7_30491621_30509829 | 30496315 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG02155.hp1 HG03927.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0180 a0001c0001t0003g0004 a0001c0001t0003g0006 others(2): Show |
7 | 444 | 0.0158 | 20 | c.*77 others(29): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 305 | chr7 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18952.hp1 NA18974.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 |
3 | 357 | 0.0084 | 20 | c.93+ others(35): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36575648 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 357 | 0.0028 | 20 | c.642 others(37): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605023 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0033 | 1 | 426 | 0.0024 | 20 | c.-42 others(39): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24228048 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0311 | 1 | 420 | 0.0024 | 20 | c.902 others(37): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 6/11 | chr22 | TogoVar | |||||||
GGT5_chr22_24214660_24250082 | 24232558 | C | CCGGGGCC others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0030 | a0003c0030t0003 | a0003c0030t0003g0371 | 1 | 420 | 0.0024 | 20 | c.596 others(35): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 4/11 | chr22 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34855789 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03490.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0045 a0001c0001t0007g0192 a0001c0001t0008g0239 |
4 | 354 | 0.0113 | 20 | c.110 others(37): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34855814 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02015.hp1 HG02074.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0047 a0001c0001t0002g0036 a0001c0001t0002g0181 others(6): Show |
11 | 354 | 0.0311 | 20 | c.110 others(37): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
GH1_chr17_63912203_63923839 | 63912829 | C | CTTTCTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 420 | 0.0024 | 20 | c.*44 others(31): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4373 | chr17 | TogoVar | |||||||
GHRHR_chr7_30958953_30984528 | 30968605 | T | TCTCCCTC others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0100 a0001c0001t0001g0135 others(1): Show |
5 | 422 | 0.0119 | 20 | c.58- others(33): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp2 HG01071.hp1 others(3): Show |
a0001a0005 | a0001c0008a0005c0006 | a0001c0008t0001a0005c0006t0001 | a0001c0008t0001g0032 a0005c0006t0001g0050 a0005c0006t0001g0081 others(1): Show |
6 | 422 | 0.0142 | 20 | c.58- others(33): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42424171 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0005 | a0005c0007 | a0005c0007t0018 | a0005c0007t0018g0210 | 1 | 210 | 0.0048 | 20 | c.-12 others(35): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(8): Show | a0001c0001t0002g0055 a0001c0001t0002g0086 a0001c0001t0002g0106 others(16): Show |
19 | 210 | 0.0905 | 20 | c.-12 others(39): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576046 | T | TAATAAAA others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02071.hp2 HG03471.hp2 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0027a0003c0003t0003a0004c0004t0011others(2): Show | a0002c0002t0027g0202 a0003c0003t0003g0165 a0004c0004t0011g0163 others(2): Show |
5 | 210 | 0.0238 | 20 | c.70+ others(37): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576099 | T | TAAAATAA others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG02145.hp2 others(4): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0005others(1): Show | a0002c0002t0001a0003c0003t0003a0003c0003t0007others(2): Show | a0002c0002t0001g0167 a0003c0003t0003g0011 a0003c0003t0003g0145 others(4): Show |
7 | 210 | 0.0333 | 20 | c.70+ others(37): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576099 | T | TAAAATAA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02258.hp2 HG03516.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0014a0002c0002t0001 | a0001c0001t0004g0157 a0001c0001t0014g0087 a0002c0002t0001g0166 others(1): Show |
4 | 210 | 0.0191 | 20 | c.70+ others(37): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42650578 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01433.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0046 a0001c0001t0005g0131 a0001c0001t0013g0039 others(1): Show |
4 | 210 | 0.0191 | 20 | c.136 others(39): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIGYF1_chr7_100674507_100699250 | 100697387 | A | AAGGACAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(365): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(96): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(204): Show |
368 | 398 | 0.9246 | 20 | c.-43 others(31): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 3138 | chr7 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232711705 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00642.hp2 others(26): Show |
a0002a0013 | a0002c0001a0013c0019 | a0002c0001t0002a0002c0001t0004a0002c0001t0009others(3): Show | a0002c0001t0002g0057 a0002c0001t0002g0059 a0002c0001t0002g0060 others(26): Show |
29 | 376 | 0.0771 | 20 | c.-44 others(37): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232711705 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 others(4): Show |
7 | 376 | 0.0186 | 20 | c.-44 others(37): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232781287 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19003.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0018 | a0001c0003t0003g0157 a0002c0001t0018g0088 |
2 | 376 | 0.0053 | 20 | c.533 others(37): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIMAP8_chr7_150445630_150484393 | 150452709 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0205 | 1 | 372 | 0.0027 | 20 | c.-29 others(37): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GIMAP8_chr7_150445630_150484393 | 150452709 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02300.hp2 NA19002.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 2 | 372 | 0.0054 | 20 | c.-29 others(37): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GIN1_chr5_103081000_103125138 | 103117581 | T | TATATACA others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG02257.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009a0002c0002t0010 | a0002c0002t0002g0036 a0002c0002t0002g0143 a0002c0002t0002g0144 others(3): Show |
7 | 322 | 0.0217 | 20 | c.-8+ others(35): Show |
GIN1 | ENSG00000145723.17 | transcript | ENST00000399004.7 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
GINS1_chr20_25402673_25453563 | 25443980 | T | TTATCTAT others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01192.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0202 others(14): Show |
17 | 360 | 0.0472 | 20 | c.523 others(37): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0277 | 1 | 470 | 0.0021 | 20 | c.205 others(37): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685679 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 |
a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0081 a0001c0003t0018g0082 |
2 | 470 | 0.0043 | 20 | c.205 others(37): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(9): Show |
28 | 426 | 0.0657 | 20 | c.*47 others(31): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATAGA others(13): Show |
intron_variant | MODIFIER | HG02970.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0038a0001c0017t0001 | a0001c0002t0038g0109 a0001c0017t0001g0115 |
2 | 444 | 0.0045 | 20 | c.-30 others(37): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 444 | 0.0023 | 20 | c.-30 others(37): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0072 | 1 | 444 | 0.0023 | 20 | c.-30 others(37): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0311 | 1 | 444 | 0.0023 | 20 | c.-30 others(37): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIP_chr17_48953554_48973596 | 48965138 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0092 |
2 | 406 | 0.0049 | 20 | c.87- others(33): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
GIP_chr17_48953554_48973596 | 48968907 | A | AGCAGGGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 406 | 0.0025 | 20 | c.-41 others(29): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 312 | chr17 | TogoVar | |||||||
GIT1_chr17_29568475_29594648 | 29593895 | A | ATGGGAGC others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(107): Show |
266 | 400 | 0.6650 | 20 | c.-45 others(31): Show |
GIT1 | ENSG00000108262.16 | transcript | ENST00000225394.8 | protein_coding | 4248 | chr17 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89898084 | T | TCTTTCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG02300.hp1 HG02647.hp1 others(7): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0001c0001t0002a0009c0007t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0009c0007t0002g0000 |
10 | 386 | 0.0259 | 20 | c.*19 others(31): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 1965 | chr6 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89900758 | T | TTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0000 | 1 | 386 | 0.0026 | 20 | c.*46 others(31): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 4639 | chr6 | TogoVar | |||||||
GJA8_chr1_147897795_147914269 | 147899913 | G | GAAAGAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 472 | 0.0042 | 20 | c.-29 others(31): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2881 | chr1 | TogoVar | |||||||
GJA8_chr1_147897795_147914269 | 147899925 | G | GAAAGAGA others(13): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 472 | 0.0021 | 20 | c.-29 others(31): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2869 | chr1 | TogoVar | |||||||
GJA8_chr1_147897795_147914269 | 147899925 | G | GAGAAAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG02165.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 472 | 0.0085 | 20 | c.-29 others(31): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2869 | chr1 | TogoVar | |||||||
GJA8_chr1_147897795_147914269 | 147899928 | A | AAAGAAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 472 | 0.0021 | 20 | c.-29 others(31): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2866 | chr1 | TogoVar | |||||||
GJA8_chr1_147897795_147914269 | 147899932 | A | AAAGAAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(1): Show |
7 | 472 | 0.0148 | 20 | c.-29 others(31): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2862 | chr1 | TogoVar | |||||||
GJA9_chr1_38869069_38886587 | 38882338 | A | ATATATTT others(13): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 NA19058.hp2 NA19064.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 a0001c0003t0004g0093 |
4 | 444 | 0.0090 | 20 | c.-10 others(31): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 752 | chr1 | TogoVar | |||||||
GJA9_chr1_38869069_38886587 | 38882340 | A | ATATATTT others(13): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 NA19091.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 2 | 444 | 0.0045 | 20 | c.-10 others(31): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 754 | chr1 | TogoVar | |||||||
GJA9_chr1_38869069_38886587 | 38882847 | C | CATAGATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01891.hp1 others(6): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0004a0001c0001t0008a0010c0012t0004 | a0001c0001t0004g0017 a0001c0001t0004g0088 a0001c0001t0008g0043 others(1): Show |
9 | 444 | 0.0203 | 20 | c.-15 others(31): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1261 | chr1 | TogoVar | |||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01261.hp2 others(10): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0006c0006t0001g0013 |
13 | 420 | 0.0310 | 20 | c.-47 others(31): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | |||||||
GJC1_chr17_44793448_44835287 | 44821697 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0221 | 1 | 380 | 0.0026 | 20 | c.-97 others(37): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34751954 | G | GAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0062 | 1 | 446 | 0.0022 | 20 | c.*52 others(29): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 2/2 | 523 | chr15 | TogoVar | ||||||
GJD3_chr17_40355652_40369737 | 40369300 | T | TACACACA others(13): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0000 | 1 | 370 | 0.0027 | 20 | c.-54 others(31): Show |
GJD3 | ENSG00000183153.7 | transcript | ENST00000578689.2 | protein_coding | 4564 | chr17 | TogoVar |