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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(26): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 152 | 0.0066 | 33 | c.-8+ others(50): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(26): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01256.hp2 HG02132.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023 | a0001c0001t0001g0014 a0001c0001t0001g0130 a0001c0001t0002g0157 others(3): Show |
6 | 157 | 0.0382 | 33 | c.-8+ others(50): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(26): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03195.hp2 NA19012.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0002 | a0001c0001t0001g0132 a0001c0001t0005g0254 a0001c0003t0002g0155 |
3 | 154 | 0.0195 | 33 | c.-8+ others(50): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(26): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0021 a0001c0001t0005g0177 |
2 | 153 | 0.0131 | 33 | c.-8+ others(50): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(26): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 152 | 0.0066 | 33 | c.-8+ others(50): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935468 | C | CACACACA others(26): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 a0001c0001t0002g0118 a0001c0001t0002g0250 |
3 | 276 | 0.0109 | 33 | c.-8+ others(50): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
EPC2_chr2_148639751_148792569 | 148774622 | T | TTATATTA others(26): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19068.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0075 a0001c0001t0002g0081 |
3 | 212 | 0.0142 | 33 | c.172 others(52): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPDR1_chr7_37915640_37956936 | 37937985 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 5 | 0.2000 | 33 | c.270 others(52): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566956 | G | GAGAAGGA others(26): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 104 | 0.0096 | 33 | c.159 others(50): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566956 | G | GAGAAGGG others(26): Show |
intron_variant | MODIFIER | NA18956.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0221 a0001c0001t0002g0192 |
2 | 105 | 0.0190 | 33 | c.159 others(50): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAAG others(26): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0180 a0001c0001t0005g0185 |
2 | 58 | 0.0345 | 33 | c.159 others(50): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAAG others(26): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0273 | 1 | 57 | 0.0175 | 33 | c.159 others(50): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA7_chr6_93235020_93424559 | 93351266 | G | GAGTTGGC others(26): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0194 | 1 | 278 | 0.0036 | 33 | c.132 others(52): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTGTT others(26): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 50 | 0.0200 | 33 | c.766 others(50): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16350982 | A | AGCTACTT others(26): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0168 | 1 | 274 | 0.0036 | 33 | c.*47 others(44): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4264 | chr19 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42965732 | T | TCTCCCTC others(26): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02004.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0004g0174 a0001c0001t0021g0148 a0001c0001t0022g0032 others(3): Show |
6 | 315 | 0.0190 | 33 | c.332 others(50): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42965768 | T | TCGTCTCC others(26): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18906.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0016 | a0001c0001t0008g0007 a0001c0001t0012g0247 a0001c0001t0016g0293 |
3 | 284 | 0.0106 | 33 | c.332 others(50): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
ERBB2_chr17_39695064_39733658 | 39727487 | G | GTACCCCT others(26): Show |
disruptive_inframe_insertion | MODERATE | NA19089.hp1 | a0014 | a0014c0016 | a0014c0016t0004 | a0014c0016t0004g0069 | 1 | 318 | 0.0031 | 33 | c.337 others(42): Show |
p.Asp others(48): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 26/27 | 3550/4557 | 3375/3768 | 1125/1255 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ERBB4_chr2_211370717_212543802 | 212206589 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0019 | 1 | 21 | 0.0476 | 33 | c.83- others(50): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212345265 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0006 | 1 | 20 | 0.0500 | 33 | c.82+ others(52): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 66018441 | A | AATATAAT others(26): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216 | 1 | 304 | 0.0033 | 33 | c.534 others(50): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55583480 | C | CTCCTTCC others(26): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01169.hp2 HG02040.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0002g0032 others(1): Show |
4 | 70 | 0.0571 | 33 | c.*40 others(52): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55743341 | A | AATGCCAG others(26): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG01346.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0035 others(15): Show |
18 | 72 | 0.2500 | 33 | c.256 others(52): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERCC2_chr19_45344837_45375573 | 45375531 | T | TTATATTT others(26): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 410 | 0.0024 | 33 | c.-49 others(44): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 4959 | chr19 | TogoVar | |||||||
ERCC6L2_chr9_95870691_96023447 | 95907834 | C | CACACACA others(26): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0334 | 1 | 283 | 0.0035 | 33 | c.788 others(48): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914655 | C | CGTCTCTG others(26): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 318 | 0.0031 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914656 | A | ATCTCTGT others(26): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 207 | 0.0048 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914683 | A | ATCTCTGT others(26): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 2 | 279 | 0.0072 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914710 | A | ATCTCTGT others(26): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 257 | 0.0039 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914712 | C | GTCTGTCT others(26): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 328 | 0.0030 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914736 | C | CGTCTCTG others(26): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18940.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0046 a0002c0003t0001g0043 |
2 | 322 | 0.0062 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914737 | A | ATCTCTGT others(26): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 249 | 0.0040 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914737 | A | ATCTCTGT others(26): Show |
intron_variant | MODIFIER | HG02683.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0077 a0001c0001t0003g0236 |
2 | 250 | 0.0080 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914747 | C | CTCCCTCC others(26): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 313 | 0.0032 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914857 | C | CTCCACCA others(26): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02145.hp1 HG02258.hp2 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0049 a0001c0001t0001g0170 a0001c0001t0003g0203 others(9): Show |
13 | 150 | 0.0867 | 33 | c.-13 others(50): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908315 | G | GGGGGCGG others(26): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03831.hp1 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0109 a0001c0001t0001g0164 a0001c0001t0002g0160 others(1): Show |
4 | 294 | 0.0136 | 33 | c.156 others(50): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696400 | T | TCCTCCCC others(26): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02602.hp2 HG03041.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0058 others(6): Show |
10 | 368 | 0.0272 | 33 | c.170 others(50): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTG others(26): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03490.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0002 | a0001c0001t0002g0299 a0002c0005t0002g0285 |
2 | 133 | 0.0150 | 33 | c.169 others(50): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERMAP_chr1_42812122_42849991 | 42848210 | G | GAGGCTGA others(26): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 384 | 0.0026 | 33 | c.*49 others(44): Show |
ERMAP | ENSG00000164010.15 | transcript | ENST00000372517.8 | protein_coding | 3220 | chr1 | TogoVar | |||||||
ERMP1_chr9_5779572_5838117 | 5834892 | T | TGTAACCG others(26): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 376 | 0.0027 | 33 | c.-18 others(44): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1776 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02970.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0008g0118 |
3 | 69 | 0.0435 | 33 | c.58- others(48): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ERVK3-1_chr19_58300377_58321812 | 58316968 | A | ATTTCCTT others(26): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0071 | 1 | 422 | 0.0024 | 33 | c.*21 others(44): Show |
ERVK3-1 | ENSG00000142396.11 | transcript | ENST00000413518.6 | protein_coding | 157 | chr19 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 9 | 0.1111 | 33 | c.226 others(50): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(26): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0337 others(3): Show |
6 | 248 | 0.0242 | 33 | c.-47 others(44): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216524252 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0017others(1): Show | a0001c0001t0005g0255 a0001c0001t0014g0017 a0001c0001t0014g0087 others(2): Show |
5 | 283 | 0.0177 | 33 | c.863 others(50): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAATAT others(26): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 226 | 0.0044 | 33 | c.732 others(48): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76295936 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18972.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0220 a0002c0002t0004g0248 |
2 | 18 | 0.1111 | 33 | c.40- others(46): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76311932 | C | CTTTTTTT others(26): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01256.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0139 a0001c0001t0002g0158 a0001c0001t0002g0160 others(4): Show |
7 | 17 | 0.4118 | 33 | c.-54 others(42): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 464 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76311952 | T | TTTTTTTT others(26): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 334 | 0.0030 | 33 | c.-56 others(42): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 484 | chr15 | TogoVar | |||||||
ETFB_chr19_51340169_51371388 | 51353691 | C | CTCCCTCA others(26): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02257.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0285 others(2): Show |
5 | 295 | 0.0169 | 33 | c.217 others(48): Show |
ETFB | ENSG00000105379.10 | transcript | ENST00000309244.9 | protein_coding | 2/5 | chr19 | TogoVar |