regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EBF4_chr20_2687780_2765108 | 2764619 | C | CTTTTCTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0309a0001c0001t0001g0320a0001c0001t0001g0337others(56): Show | 59 | 388 | 0.1521 | 7 | c.*53 others(18): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 4512 | chr20 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4227017 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(39): Show | 49 | 438 | 0.1119 | 7 | c.-25 others(18): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2505 | chr19 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4236518 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG02970.hp2 HG03492.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035a0002c0002t0002g0091a0002c0002t0002g0104others(4): Show | 8 | 438 | 0.0183 | 7 | c.538 others(22): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ECD_chr10_73128668_73173008 | 73159642 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(52): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0003a0002c0008others(3): Show | a0002c0002t0002a0002c0003t0002a0002c0003t0004others(4): Show | a0002c0002t0002g0009a0002c0002t0002g0013a0002c0002t0002g0015others(43): Show | 55 | 272 | 0.2022 | 7 | c.323 others(22): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127307648 | G | GAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(63): Show | 87 | 358 | 0.2430 | 7 | c.497 others(24): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECI1_chr16_2234402_2256587 | 2249876 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01169.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0093a0001c0001t0001g0174a0001c0001t0001g0175others(3): Show | 7 | 436 | 0.0161 | 7 | c.166 others(24): Show |
ECI1 | ENSG00000167969.13 | transcript | ENST00000301729.9 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92533322 | A | ATATATAT | intron_variant | MODIFIER | HG03471.hp1 NA18955.hp2 NA18974.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0123a0001c0002t0002g0134a0001c0002t0002g0135others(1): Show | 4 | 400 | 0.0100 | 7 | c.-28 others(24): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106067059 | C | CGGGGGGG | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0175others(14): Show | 21 | 434 | 0.0484 | 7 | c.79+ others(22): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECRG4_chr2_106060688_106083155 | 106071322 | T | TAAAAAAA | intron_variant | MODIFIER | HG02523.hp1 HG04199.hp2 NA18970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0156a0001c0001t0001g0273others(3): Show | 8 | 434 | 0.0184 | 7 | c.80- others(20): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138806511 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00639.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0001t0001g0112others(19): Show | 22 | 326 | 0.0675 | 7 | c.-24 others(26): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138890492 | C | CTTTTTTT | intron_variant | MODIFIER | HG01257.hp1 HG01261.hp1 HG01346.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(5): Show | a0001c0001t0001g0105a0001c0001t0001g0111a0001c0001t0001g0169others(20): Show | 23 | 326 | 0.0706 | 7 | c.241 others(26): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236405777 | C | CTTTTCTT | intron_variant | MODIFIER | HG00642.hp1 HG01496.hp1 HG01978.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0140a0001c0001t0001g0143a0001c0001t0001g0148others(7): Show | 10 | 294 | 0.0340 | 7 | c.62- others(22): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236447224 | C | CTTTCTTT | intron_variant | MODIFIER | HG01255.hp1 HG02622.hp2 HG03209.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0093a0001c0001t0001g0099a0001c0001t0001g0157others(4): Show | 7 | 294 | 0.0238 | 7 | c.219 others(26): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236447233 | C | CTTTCTTT | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004a0002c0002t0008 | a0001c0001t0002g0212a0002c0002t0004g0244a0002c0002t0008g0287 | 3 | 294 | 0.0102 | 7 | c.219 others(26): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69635566 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01346.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(12): Show | 15 | 226 | 0.0664 | 7 | c.396 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69649670 | T | TCCGCCTG | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 226 | 0.0044 | 7 | c.396 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69670183 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0052 | 1 | 226 | 0.0044 | 7 | c.396 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69749919 | G | GTTTCTTT | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 226 | 0.0044 | 7 | c.396 others(28): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69851157 | T | TGTGTGTG | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 226 | 0.0044 | 7 | c.397 others(28): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69978318 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 226 | 0.0044 | 7 | c.502 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69978517 | A | AAAAAAAT | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 226 | 0.0044 | 7 | c.502 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDEM1_chr3_5182707_5224958 | 5220533 | G | GGTTTTTT | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02976.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0047a0001c0004t0014others(1): Show | a0001c0001t0006g0088a0001c0001t0047g0086a0001c0004t0014g0012others(2): Show | 7 | 374 | 0.0187 | 7 | c.*46 others(18): Show |
EDEM1 | ENSG00000134109.11 | transcript | ENST00000256497.9 | protein_coding | 576 | chr3 | TogoVar | ||||||
EDEM2_chr20_35110364_35152336 | 35115087 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01515.hp2 HG03492.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0030others(6): Show | 10 | 332 | 0.0301 | 7 | c.*34 others(16): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 276 | chr20 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184704649 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0017a0001c0004t0004a0001c0004t0025 | a0001c0003t0017g0191a0001c0004t0004g0264a0001c0004t0004g0265others(4): Show | 7 | 324 | 0.0216 | 7 | c.220 others(26): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184750518 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(99): Show |
a0001a0002 | a0001c0004a0001c0013a0002c0002others(1): Show | a0001c0004t0004a0001c0013t0040a0002c0002t0002others(9): Show | a0001c0004t0004g0023a0001c0004t0004g0263a0001c0004t0004g0264others(79): Show | 102 | 324 | 0.3148 | 7 | c.159 others(22): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84037988 | G | GTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0061a0001c0001t0002g0034a0001c0001t0003g0078others(5): Show | 8 | 158 | 0.0506 | 7 | c.113 others(28): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84238665 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0056a0001c0001t0001g0087a0001c0001t0001g0088others(24): Show | 27 | 158 | 0.1709 | 7 | c.197 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84252493 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01106.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0003g0122a0001c0001t0003g0145a0001c0001t0003g0153others(4): Show | 7 | 158 | 0.0443 | 7 | c.196 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147505327 | A | ATTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(4): Show | a0001c0001t0003g0133a0001c0001t0003g0134a0001c0001t0003g0175others(11): Show | 14 | 280 | 0.0500 | 7 | c.421 others(26): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRB_chr13_77890487_77923831 | 77908043 | A | AAAAAGAG | intron_variant | MODIFIER | HG02132.hp2 HG02615.hp2 HG02683.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0011a0001c0001t0001g0081a0001c0001t0001g0107others(5): Show | 14 | 406 | 0.0345 | 7 | c.484 others(24): Show |
EDNRB | ENSG00000136160.17 | transcript | ENST00000646607.2 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
EDNRB_chr13_77890487_77923831 | 77908043 | A | AAAGAGAG | intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0001g0055a0001c0002t0001g0046a0001c0002t0001g0047others(5): Show | 12 | 406 | 0.0296 | 7 | c.484 others(24): Show |
EDNRB | ENSG00000136160.17 | transcript | ENST00000646607.2 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92794735 | G | GGGGGGGC | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00738.hp2 others(14): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0003a0001c0002t0045a0003c0005t0003others(1): Show | a0001c0002t0003g0023a0001c0002t0003g0024a0001c0002t0003g0025others(14): Show | 17 | 244 | 0.0697 | 7 | c.296 others(26): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 21/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92835400 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02818.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0016a0002c0003t0056 | a0002c0003t0004g0151a0002c0003t0004g0152a0002c0003t0004g0167others(4): Show | 7 | 244 | 0.0287 | 7 | c.916 others(24): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 10/28 | chr12 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73524789 | T | TATATATA | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01515.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0016 | a0001c0001t0001g0001a0001c0001t0001g0038a0001c0003t0016g0020 | 8 | 424 | 0.0189 | 7 | c.-38 others(18): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3758 | chr6 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63491987 | T | TGATGGAG | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020 | 6 | 374 | 0.0160 | 7 | c.772 others(24): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63499643 | A | AACCCCGG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(181): Show | 313 | 374 | 0.8369 | 7 | c.-65 others(16): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 561 | chr20 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124774406 | A | AAAAAAAG | intron_variant | MODIFIER | HG02738.hp2 HG03139.hp2 HG03927.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0101a0001c0001t0001g0103others(7): Show | 10 | 358 | 0.0279 | 7 | c.399 others(22): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8092868 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG03579.hp2 NA18966.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284a0001c0001t0001g0314a0001c0001t0001g0322others(1): Show | 4 | 442 | 0.0091 | 7 | c.289 others(24): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
EEF2KMT_chr16_5079284_5102795 | 5100177 | T | TTTTTTTC | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(10): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0007others(1): Show | a0002c0002t0002a0002c0005t0002a0002c0005t0020others(2): Show | a0002c0002t0002g0009a0002c0005t0002g0264a0002c0005t0020g0103others(3): Show | 13 | 442 | 0.0294 | 7 | c.-24 others(18): Show |
EEF2KMT | ENSG00000118894.15 | transcript | ENST00000427587.9 | protein_coding | 2383 | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22268644 | T | TTTTTTAA | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0027a0001c0002t0005a0001c0002t0023others(4): Show | a0001c0001t0027g0191a0001c0002t0005g0055a0001c0002t0005g0071others(26): Show | 30 | 290 | 0.1035 | 7 | c.176 others(26): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22289211 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG02129.hp2 HG02622.hp2 HG03130.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0004a0002c0003t0004a0002c0003t0013others(1): Show | a0001c0002t0004g0068a0001c0002t0004g0180a0001c0002t0004g0202others(6): Show | 9 | 290 | 0.0310 | 7 | c.*52 others(18): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 474 | chr16 | TogoVar | ||||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(62): Show |
a0001 | a0001c0001a0001c0006a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0022others(20): Show | 65 | 403 | 0.1613 | 7 | c.171 others(24): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128152977 | T | TCCCGCCC | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG01361.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0237a0001c0001t0001g0242a0001c0001t0001g0249others(5): Show | 8 | 272 | 0.0294 | 7 | c.-53 others(16): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 503 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128293665 | A | AAAAAAAC | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(46): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0009t0001 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(46): Show | 49 | 272 | 0.1802 | 7 | c.786 others(26): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128293672 | A | AAAAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0001t0001g0028others(159): Show | 162 | 272 | 0.5956 | 7 | c.786 others(26): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128295451 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0001g0077others(9): Show | 12 | 272 | 0.0441 | 7 | c.786 others(26): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36242135 | T | TATAAAAC | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0146a0001c0001t0002g0263a0001c0001t0002g0265others(3): Show | 6 | 346 | 0.0173 | 7 | c.930 others(24): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAAAAT | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 NA18944.hp2 others(4): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0040a0001c0001t0001g0144a0001c0001t0001g0193others(3): Show | 7 | 428 | 0.0164 | 7 | c.107 others(22): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAATAT | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01069.hp2 others(4): Show |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0001 | a0001c0001t0001g0045a0001c0001t0001g0070a0001c0001t0001g0137others(3): Show | 7 | 428 | 0.0164 | 7 | c.107 others(22): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAATATAT | intron_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0222a0001c0001t0001g0243 | 6 | 428 | 0.0140 | 7 | c.107 others(22): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar |