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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYSF_chr2_71448561_71691763 | 71617761 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 192 | 0.0052 | 20 | c.441 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618047 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02818.hp2 others(3): Show |
a0001a0022 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0003others(3): Show | a0001c0001t0001g0192 a0001c0005t0001g0056 a0001c0006t0003g0007 others(3): Show |
6 | 192 | 0.0313 | 20 | c.441 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71481722 | C | CCATCCAT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(27): Show | a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0001g0106 others(51): Show |
54 | 208 | 0.2596 | 20 | c.148 others(35): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71571450 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0052others(5): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(6): Show | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0082 others(10): Show |
13 | 208 | 0.0625 | 20 | c.322 others(37): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71571460 | A | ATCACACC others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02630.hp1 others(4): Show |
a0001a0004a0015 | a0001c0010a0001c0042a0001c0078others(2): Show | a0001c0010t0001a0001c0042t0001a0001c0078t0001others(2): Show | a0001c0010t0001g0035 a0001c0042t0001g0141 a0001c0078t0001g0199 others(4): Show |
7 | 208 | 0.0337 | 20 | c.322 others(37): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71571867 | A | ATCACACC others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0022 | a0022c0045 | a0022c0045t0001 | a0022c0045t0001g0093 | 1 | 208 | 0.0048 | 20 | c.322 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71617761 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 208 | 0.0048 | 20 | c.446 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618047 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0003others(2): Show | a0001c0001t0001g0135 a0001c0001t0001g0203 a0001c0005t0001g0087 others(3): Show |
6 | 208 | 0.0289 | 20 | c.446 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618392 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0041 | 1 | 208 | 0.0048 | 20 | c.446 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618567 | T | TGTTGTGT others(13): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 208 | 0.0048 | 20 | c.446 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | TogoVar | |||||||
DYTN_chr2_206646621_206723396 | 206675145 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02040.hp2 HG02257.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 a0002c0002t0001g0157 a0002c0002t0001g0158 others(4): Show |
7 | 382 | 0.0183 | 20 | c.981 others(37): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
DYTN_chr2_206646621_206723396 | 206675145 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 382 | 0.0026 | 20 | c.981 others(37): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
DYTN_chr2_206646621_206723396 | 206717043 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01256.hp2 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0004 | a0001c0001t0001a0001c0017t0001a0002c0004t0001 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(2): Show |
5 | 382 | 0.0131 | 20 | c.19+ others(35): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95575590 | C | CGTGTGTG others(13): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0250 others(2): Show |
5 | 382 | 0.0131 | 20 | c.*66 others(31): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 2611 | chr13 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95600629 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02071.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0002g0202 a0001c0001t0002g0350 a0001c0001t0002g0371 others(5): Show |
8 | 382 | 0.0209 | 20 | c.147 others(39): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | |||||||
DZIP3_chr3_108584722_108699840 | 108622880 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02135.hp2 HG02148.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0048 others(8): Show |
11 | 318 | 0.0346 | 20 | c.376 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108622880 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0233 | 1 | 318 | 0.0031 | 20 | c.376 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108622880 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 318 | 0.0031 | 20 | c.376 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 318 | 0.0031 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG02683.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0001a0001c0002t0001a0006c0010t0001 | a0001c0001t0001g0114 a0001c0001t0001g0156 a0001c0002t0001g0224 others(2): Show |
5 | 318 | 0.0157 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0233 | 1 | 318 | 0.0031 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01993.hp1 HG03041.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0223 a0002c0003t0001g0207 |
2 | 318 | 0.0063 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0239 | 1 | 318 | 0.0031 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18971.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0141 a0001c0002t0001g0271 |
2 | 318 | 0.0063 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02148.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0258 a0001c0002t0011g0253 |
2 | 318 | 0.0063 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 318 | 0.0031 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACTC others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 NA20129.hp1 |
a0001a0003 | a0001c0008a0003c0005 | a0001c0008t0001a0003c0005t0005 | a0001c0008t0001g0183 a0003c0005t0005g0111 |
2 | 318 | 0.0063 | 20 | c.696 others(37): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108697439 | T | TAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 NA19043.hp2 NA20129.hp1 |
a0001a0003 | a0001c0001a0001c0008a0003c0005 | a0001c0001t0002a0001c0008t0001a0003c0005t0005 | a0001c0001t0002g0019 a0001c0008t0001g0183 a0003c0005t0005g0111 |
3 | 318 | 0.0094 | 20 | c.*40 others(31): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 2600 | chr3 | TogoVar | |||||||
E2F5_chr8_85172154_85219518 | 85180511 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01884.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0202 others(2): Show |
6 | 336 | 0.0179 | 20 | c.234 others(37): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11466855 | G | GCCTGCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 366 | 0.0027 | 20 | c.-97 others(29): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 366 | 0.0027 | 20 | c.-29 others(31): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01928.hp2 HG02132.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0014 a0001c0001t0002g0042 a0001c0001t0002g0043 others(3): Show |
6 | 366 | 0.0164 | 20 | c.-29 others(31): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 HG01243.hp2 HG01981.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 others(3): Show |
12 | 366 | 0.0328 | 20 | c.-29 others(31): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02572.hp2 HG04204.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0135 a0001c0001t0002g0151 others(1): Show |
4 | 366 | 0.0109 | 20 | c.-29 others(31): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 366 | 0.0027 | 20 | c.-29 others(31): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
EAPP_chr14_34510938_34544701 | 34524657 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02615.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0270 a0001c0001t0002g0070 a0001c0001t0002g0072 others(1): Show |
4 | 360 | 0.0111 | 20 | c.581 others(33): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EBAG9_chr8_109535173_109570996 | 109538047 | A | ATTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0029 | 1 | 356 | 0.0028 | 20 | c.-24 others(31): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 2125 | chr8 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158740298 | C | CGCGGAGT others(13): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0042 | 1 | 196 | 0.0051 | 20 | c.103 others(39): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158765413 | C | CGTGTGTA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0021others(1): Show | a0001c0001t0002g0175 a0001c0001t0008g0183 a0001c0001t0021g0117 others(1): Show |
4 | 196 | 0.0204 | 20 | c.103 others(41): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 159050191 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03453.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0094a0001c0002t0076 | a0001c0001t0002g0101 a0001c0001t0094g0194 a0001c0002t0076g0087 |
3 | 196 | 0.0153 | 20 | c.554 others(39): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25838176 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 220 | 0.0046 | 20 | c.*64 others(31): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3548 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26005561 | T | TATATAGA others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0054 | 1 | 220 | 0.0046 | 20 | c.551 others(39): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26010988 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0156 | 1 | 220 | 0.0046 | 20 | c.551 others(39): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129917651 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0260 | 1 | 338 | 0.0030 | 20 | c.554 others(39): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
EBF4_chr20_2687780_2765108 | 2753961 | C | CCCCCTTG others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(307): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0008 a0001c0001t0001g0143 a0001c0001t0001g0144 others(298): Show |
310 | 388 | 0.7990 | 20 | c.154 others(39): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EBF4_chr20_2687780_2765108 | 2753963 | C | CCCTTGGT others(13): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0261 a0001c0003t0001g0267 |
2 | 388 | 0.0052 | 20 | c.154 others(39): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4236518 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01934.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0027 others(3): Show |
17 | 438 | 0.0388 | 20 | c.538 others(35): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73066239 | C | CATACATA others(13): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01192.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 3 | 428 | 0.0070 | 20 | c.*33 others(31): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 2903 | chr3 | TogoVar | |||||||
EBNA1BP2_chr1_43159184_43177290 | 43161852 | C | CAATAAAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 392 | 0.0026 | 20 | c.*25 others(31): Show |
EBNA1BP2 | ENSG00000117395.13 | transcript | ENST00000236051.3 | protein_coding | 2331 | chr1 | TogoVar | |||||||
EBPL_chr13_49655674_49696486 | 49673962 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0260 others(6): Show |
11 | 410 | 0.0268 | 20 | c.172 others(37): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar |