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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GCM2_chr6_10868223_10887041 | 10881568 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 424 | 0.0024 | -17 | c.90+ others(30): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
GCN1_chr12_120122202_120199715 | 120169279 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(142): Show |
a0001a0004a0008others(5): Show | a0001c0001a0001c0004a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(129): Show |
145 | 310 | 0.4677 | -17 | c.151 others(34): Show |
GCN1 | ENSG00000089154.11 | transcript | ENST00000300648.7 | protein_coding | 15/57 | chr12 | TogoVar | |||||||
GCNA_chrX_71573437_71618583 | 71603835 | GGATGTTC others(10): Show |
G | frameshift_variant | HIGH | NA19075.hp1 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0066 | 1 | 263 | 0.0038 | -17 | c.559 others(24): Show |
p.Asp others(5): Show |
GCNA | ENSG00000147174.12 | transcript | ENST00000373696.8 | protein_coding | 8/13 | 647/2765 | 559/2076 | 187/691 | chrX | TogoVar | |||
GCNT2_chr6_10516351_10634368 | 10582481 | TATATACT others(10): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0169 |
2 | 319 | 0.0063 | -17 | c.926 others(36): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10601940 | CAAGAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0252 a0001c0001t0009g0196 |
2 | 295 | 0.0068 | -17 | c.926 others(36): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10582481 | TATATACT others(10): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0269 |
2 | 339 | 0.0059 | -17 | c.919 others(36): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10601940 | CAAGAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0011 | a0001c0001t0007g0017 a0002c0003t0011g0265 |
2 | 315 | 0.0063 | -17 | c.920 others(36): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610888 | CCCTCCCC others(10): Show |
C | upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 408 | 0.0025 | -17 | c.-13 others(28): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 894 | chr15 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59611032 | CCCCTCCC others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0014 a0001c0001t0002g0001 a0001c0001t0003g0001 others(2): Show |
8 | 424 | 0.0189 | -17 | c.-11 others(28): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 750 | chr15 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59611084 | CCCTCCCC others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp1 NA18980.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0003g0029 |
3 | 268 | 0.0112 | -17 | c.-11 others(28): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 698 | chr15 | TogoVar | |||||||
GCSH_chr16_81076945_81101395 | 81079748 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02523.hp2 others(12): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0003 | a0002c0002t0002a0002c0004t0002a0003c0003t0004others(1): Show | a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0004t0002g0015 others(8): Show |
15 | 352 | 0.0426 | -17 | c.*31 others(28): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 2196 | chr16 | TogoVar | |||||||
GCSH_chr16_81076945_81101395 | 81079753 | AAAAAAGA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0071 | 1 | 350 | 0.0029 | -17 | c.*30 others(28): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 2191 | chr16 | TogoVar | |||||||
GDAP1L1_chr20_44242308_44285947 | 44255541 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 132 | 0.0076 | -17 | c.181 others(34): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GDF1_chr19_18863545_18901158 | 18891743 | AATTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 378 | 0.0026 | -17 | c.-91 others(36): Show |
GDF1 | ENSG00000130283.9 | transcript | ENST00000247005.8 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
GDF1_chr19_18863545_18901158 | 18900164 | ATGGTGGG others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 377 | 0.0027 | -17 | c.-54 others(28): Show |
GDF1 | ENSG00000130283.9 | transcript | ENST00000247005.8 | protein_coding | 4007 | chr19 | TogoVar | |||||||
GDF5_chr20_35428347_35443228 | 35435450 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(124): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0010a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0039 others(12): Show |
127 | 128 | 0.9922 | -17 | c.632 others(32): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5794189 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 HG02080.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0286 a0001c0001t0007g0017 a0001c0001t0007g0114 others(3): Show |
7 | 316 | 0.0222 | -17 | c.388 others(32): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
GDPD1_chr17_59215511_59280970 | 59224304 | TTAAGAAA others(10): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0083 | 1 | 310 | 0.0032 | -17 | c.142 others(34): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59233958 | GTTCTATC others(10): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 310 | 0.0032 | -17 | c.143 others(32): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
GDPD1_chr17_59215511_59280970 | 59260060 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285 | 1 | 17 | 0.0588 | -17 | c.576 others(34): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPGP1_chr15_90229209_90250811 | 90243640 | GTTTTTTT others(10): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(110): Show |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(31): Show |
113 | 139 | 0.8130 | -17 | c.*15 others(28): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 4/4 | 1588 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GDPGP1_chr15_90229209_90250811 | 90246787 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp1 HG03688.hp2 NA18972.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0019a0002c0002t0004 | a0001c0001t0002g0002 a0001c0001t0019g0002 a0002c0002t0004g0001 others(1): Show |
5 | 43 | 0.1163 | -17 | c.*47 others(28): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 977 | chr15 | TogoVar | |||||||
GDPGP1_chr15_90229209_90250811 | 90248718 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02723.hp1 others(2): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0086a0004c0004t0035a0004c0004t0037others(1): Show | a0002c0002t0086g0001 a0004c0004t0035g0018 a0004c0004t0037g0018 others(1): Show |
5 | 58 | 0.0862 | -17 | c.*66 others(28): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 2908 | chr15 | TogoVar | |||||||
GEMIN5_chr5_154882411_154943211 | 154893255 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | NA19006.hp1 NA19011.hp2 NA19063.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(2): Show |
5 | 74 | 0.0676 | -17 | c.359 others(34): Show |
GEMIN5 | ENSG00000082516.9 | transcript | ENST00000285873.8 | protein_coding | 24/27 | chr5 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38775972 | TGGTGATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02055.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0011 a0001c0001t0002g0012 others(15): Show |
23 | 410 | 0.0561 | -17 | c.-23 others(28): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2237 | chr2 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38779647 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018 | 1 | 407 | 0.0025 | -17 | c.128 others(32): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
GFM1_chr3_158639527_158700581 | 158681545 | TAATGCCC others(10): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 |
a0001 | a0001c0004 | a0001c0004t0025a0001c0004t0026 | a0001c0004t0025g0284 a0001c0004t0026g0289 |
2 | 370 | 0.0054 | -17 | c.160 others(34): Show |
GFM1 | ENSG00000168827.15 | transcript | ENST00000486715.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116228980 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 NA19064.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0036a0002c0003t0001a0002c0003t0072 | a0001c0001t0036g0168 a0002c0003t0001g0134 a0002c0003t0072g0018 |
3 | 44 | 0.0682 | -17 | c.419 others(36): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21749494 | GGACCCAT others(10): Show |
G | intron_variant | MODIFIER | HG02735.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0016 a0001c0001t0006g0284 |
2 | 320 | 0.0063 | -17 | c.794 others(34): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GGA1_chr22_37603834_37638564 | 37607986 | ACCTCCCC others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0011 others(36): Show |
81 | 368 | 0.2201 | -17 | c.-87 others(26): Show |
GGA1 | ENSG00000100083.19 | transcript | ENST00000343632.9 | protein_coding | 847 | chr22 | TogoVar | |||||||
GGA1_chr22_37603834_37638564 | 37638535 | CCAGTCTG others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp2 others(15): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0042 others(6): Show |
18 | 368 | 0.0489 | -17 | c.*58 others(28): Show |
GGA1 | ENSG00000100083.19 | transcript | ENST00000343632.9 | protein_coding | 4972 | chr22 | TogoVar | |||||||
GGACT_chr13_100525180_100593789 | 100550336 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 374 | 0.0027 | -17 | c.-10 others(36): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | |||||||
GGACT_chr13_100525180_100593789 | 100585822 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02965.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(3): Show |
9 | 69 | 0.1304 | -17 | c.-18 others(36): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01993.hp2 HG03453.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0003a0003c0005t0003 | a0001c0001t0002g0212 a0001c0002t0003g0004 a0001c0002t0003g0006 others(5): Show |
11 | 48 | 0.2292 | -17 | c.93+ others(32): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36554352 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0243 a0001c0002t0003g0244 |
2 | 59 | 0.0339 | -17 | c.94- others(30): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36576569 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01070.hp2 NA18963.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0010 a0001c0002t0003g0238 |
2 | 354 | 0.0056 | -17 | c.642 others(34): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGT6_chr17_4551927_4565577 | 4564685 | CTTTCTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0012 | 1 | 455 | 0.0022 | -17 | c.-41 others(28): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 4109 | chr17 | TogoVar | |||||||
GGTLC1_chr20_23980053_23993779 | 23981141 | AGCTCCTG others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(76): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0024 others(31): Show |
79 | 434 | 0.1820 | -17 | c.*40 others(28): Show |
GGTLC1 | ENSG00000149435.12 | transcript | ENST00000335694.4 | protein_coding | 3911 | chr20 | TogoVar | |||||||
GH1_chr17_63912203_63923839 | 63912773 | CTTTCTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -17 | c.*45 others(28): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4429 | chr17 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42661653 | CCAAATTG others(10): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0013 | a0003c0013t0003 | a0003c0013t0003g0142 | 1 | 208 | 0.0048 | -17 | c.137 others(36): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GID4_chr17_18034408_18073405 | 18045891 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 291 | 0.0034 | -17 | c.498 others(32): Show |
GID4 | ENSG00000141034.10 | transcript | ENST00000268719.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562291 | TATATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0051 | 1 | 376 | 0.0027 | -17 | c.-41 others(28): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4083 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562293 | TATATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0050 | 1 | 377 | 0.0027 | -17 | c.-41 others(28): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4081 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562304 | ATATATAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 373 | 0.0027 | -17 | c.-41 others(28): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4070 | chr6 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485732 | GAGAGAGA others(10): Show |
G | intron_variant | MODIFIER | NA19063.hp2 | a0009 | a0009c0010 | a0009c0010t0004 | a0009c0010t0004g0059 | 1 | 442 | 0.0023 | -17 | c.-30 others(34): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIT1_chr17_29568475_29594648 | 29589210 | CCGCAGCC others(10): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 398 | 0.0025 | -17 | c.52+ others(30): Show |
GIT1 | ENSG00000108262.16 | transcript | ENST00000225394.8 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
GJB4_chr1_34754740_34767327 | 34757288 | TGTTCTTG others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18612.hp2 NA18946.hp1 NA18967.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 4 | 460 | 0.0087 | -17 | c.-28 others(28): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 2451 | chr1 | TogoVar | |||||||
GJB5_chr1_34750047_34763512 | 34757288 | TGTTCTTG others(10): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18612.hp1 NA18946.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 4 | 466 | 0.0086 | -17 | c.-24 others(27): Show |
GJB5 | ENSG00000189280.3 | transcript | ENST00000338513.1 | protein_coding | 2/2 | 24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GJD2_chr15_34746032_34759998 | 34746208 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0014 | 1 | 405 | 0.0025 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4823 | chr15 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746224 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0014 | 1 | 444 | 0.0023 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4807 | chr15 | TogoVar |