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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD4C_chr19_400445_414147 | 404960 | T | TGAGGGGG others(789): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0081 | 1 | 270 | 0.0037 | 796 | c.*21 others(807): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 484 | chr19 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(789): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 150 | 0.0067 | 796 | c.223 others(817): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(789): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 150 | 0.0067 | 796 | c.223 others(817): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01358.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0235 a0001c0004t0005g0237 |
2 | 3 | 0.6667 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG02056.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0137 others(5): Show |
11 | 12 | 0.9167 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02615.hp1 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0216 a0001c0004t0006g0224 |
2 | 3 | 0.6667 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0230 | 1 | 2 | 0.5000 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 2 | 0.5000 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG00741.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0157 a0001c0001t0001g0161 others(11): Show |
15 | 16 | 0.9375 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0121 | 1 | 2 | 0.5000 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0239 | 1 | 2 | 0.5000 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(789): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19003.hp2 NA19083.hp2 |
a0001 | a0001c0003a0001c0018 | a0001c0003t0003a0001c0018t0003 | a0001c0003t0003g0250 a0001c0003t0003g0265 a0001c0018t0003g0254 |
3 | 4 | 0.7500 | 796 | c.138 others(815): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0010 a0001c0001t0007g0064 |
2 | 94 | 0.0213 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02056.hp2 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0075 others(8): Show |
11 | 103 | 0.1068 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 93 | 0.0108 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0021 | 1 | 93 | 0.0108 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 93 | 0.0108 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG00741.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0110 others(11): Show |
14 | 106 | 0.1321 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0032 | 1 | 93 | 0.0108 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 93 | 0.0108 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(789): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 NA19003.hp1 NA19083.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0139 a0002c0002t0003g0144 a0002c0002t0003g0163 |
3 | 95 | 0.0316 | 796 | c.*65 others(807): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(789): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0221 | 1 | 2 | 0.5000 | 796 | c.162 others(817): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(789): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 274 | 0.0036 | 796 | c.51+ others(811): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(789): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 348 | 0.0029 | 796 | c.51+ others(811): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287216 | T | TACTATGT others(789): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 329 | 0.0030 | 796 | c.51+ others(811): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647319 | C | CCTCCTCC others(789): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 NA18945.hp1 NA19010.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0200 others(1): Show |
4 | 264 | 0.0152 | 796 | c.*51 others(807): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1975 | chr15 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258513 | A | AGGAGGGA others(789): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 126 | 0.0079 | 796 | c.415 others(817): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(789): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03098.hp2 |
a0001a0027 | a0001c0002a0027c0110 | a0001c0002t0026a0027c0110t0074 | a0001c0002t0026g0005 a0027c0110t0074g0082 |
2 | 3 | 0.6667 | 796 | c.415 others(817): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(789): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0028 | a0028c0044 | a0028c0044t0071 | a0028c0044t0071g0085 | 1 | 2 | 0.5000 | 796 | c.415 others(817): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150250868 | A | AACATCCC others(789): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0114 | 1 | 112 | 0.0089 | 796 | c.207 others(815): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438432 | A | AGGAGGAG others(789): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0068 | a0068c0221 | a0068c0221t0001 | a0068c0221t0001g0139 | 1 | 239 | 0.0042 | 796 | c.118 others(815): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355435 | T | TGGAGGAA others(789): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 76 | 0.0132 | 796 | c.758 others(811): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347263 | T | TGAGCGGA others(789): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 110 | 0.0091 | 796 | c.466 others(813): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925844 | A | ATTGGTTG others(789): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0237 | 1 | 371 | 0.0027 | 796 | c.666 others(813): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925844 | A | ATTGGTTG others(789): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0337 | 1 | 371 | 0.0027 | 796 | c.666 others(813): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925844 | A | ATTGGTTG others(789): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0335 | 1 | 371 | 0.0027 | 796 | c.666 others(813): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322429 | T | TATATATA others(789): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0247 | 1 | 295 | 0.0034 | 796 | c.-26 others(807): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2540 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322429 | T | TATATATA others(789): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0192 a0002c0004t0002g0219 |
2 | 296 | 0.0068 | 796 | c.-26 others(807): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2540 | chr21 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031591 | G | GAGGAAGG others(789): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0276 | 1 | 254 | 0.0039 | 796 | c.290 others(815): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(789): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02922.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0003t0004a0001c0004t0002others(2): Show | a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0004g0195 others(3): Show |
6 | 18 | 0.3333 | 796 | c.978 others(813): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(789): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0032 | 1 | 13 | 0.0769 | 796 | c.978 others(813): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160367 | G | GGGGGCGC others(789): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0052 | 1 | 147 | 0.0068 | 796 | c.222 others(815): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824176 | A | ATATATAT others(789): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 a0001c0001t0002g0067 |
2 | 72 | 0.0278 | 796 | c.683 others(815): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189681 | A | AAGGAAGG others(789): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0020 | 1 | 51 | 0.0196 | 796 | c.-36 others(817): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACCCAC others(789): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 256 | 0.0039 | 796 | c.129 others(813): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACGCTT others(789): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 256 | 0.0039 | 796 | c.129 others(813): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061789 | A | AATTATAT others(789): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 263 | 0.0038 | 796 | c.-31 others(807): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3114 | chr19 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925244 | T | TCCCCTCC others(789): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0048 | 1 | 273 | 0.0037 | 796 | c.115 others(813): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58209261 | T | TCCTCCCC others(789): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0116 | 1 | 56 | 0.0179 | 796 | c.123 others(815): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(789): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19080.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0189 a0001c0004t0001g0190 |
2 | 5 | 0.4000 | 796 | c.279 others(811): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar |