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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E2F4_chr16_67187155_67203918 | 67203028 | GGGCAGAG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG02135.hp2 HG02155.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 9 | 320 | 0.0281 | -11 | c.*49 others(22): Show |
E2F4 | ENSG00000205250.9 | transcript | ENST00000379378.8 | protein_coding | 4111 | chr16 | TogoVar | ||||||
E2F5_chr8_85172154_85219518 | 85179034 | ACCACAGC others(4): Show |
A | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0294 | 1 | 336 | 0.0030 | -11 | c.234 others(28): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11442150 | AGCAAGTT others(4): Show |
A | downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 366 | 0.0027 | -11 | c.*43 others(22): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2224 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11462586 | CTACTGGA others(4): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 366 | 0.0027 | -11 | c.108 others(28): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11464517 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 366 | 0.0027 | -11 | c.108 others(28): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
EAF1_chr3_15422598_15447613 | 15437244 | GGCTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG02976.hp2 NA19240.hp1 |
a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0025 | 3 | 418 | 0.0072 | -11 | c.760 others(26): Show |
EAF1 | ENSG00000144597.14 | transcript | ENST00000396842.7 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
EAF2_chr3_121830209_121891526 | 121840488 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 318 | 0.0031 | -11 | c.107 others(28): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EAF2_chr3_121830209_121891526 | 121840498 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 318 | 0.0031 | -11 | c.107 others(28): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EAPP_chr14_34510938_34544701 | 34530904 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 360 | 0.0028 | -11 | c.353 others(28): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34538898 | AACCTTCT others(4): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 360 | 0.0028 | -11 | c.74+ others(24): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34542807 | TAAAATAA others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 360 | 0.0028 | -11 | c.-31 others(22): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 3107 | chr14 | TogoVar | ||||||
EBAG9_chr8_109535173_109570996 | 109535970 | CAAAGGGA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011 | 4 | 356 | 0.0112 | -11 | c.-45 others(22): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 4202 | chr8 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158840662 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG01978.hp1 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0061a0001c0002t0089 | a0001c0002t0005g0165a0001c0002t0061g0055a0001c0002t0089g0187 | 3 | 196 | 0.0153 | -11 | c.555 others(26): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158864223 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00735.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0002g0135a0001c0001t0005g0157a0001c0001t0006g0018others(22): Show | 25 | 196 | 0.1276 | -11 | c.555 others(30): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159099919 | GAAAAAAA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 196 | 0.0051 | -11 | c.-45 others(20): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 4 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159103080 | GGAAGAGA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0188 | 1 | 196 | 0.0051 | -11 | c.-36 others(22): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 3165 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25893271 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01257.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0093a0001c0001t0002g0088a0001c0001t0006g0191others(7): Show | 10 | 220 | 0.0455 | -11 | c.634 others(28): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25907419 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02074.hp1 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0107 | 2 | 220 | 0.0091 | -11 | c.633 others(28): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129886033 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02148.hp2 HG03098.hp2 HG03710.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0145a0001c0001t0002g0066a0001c0001t0002g0234others(5): Show | 8 | 338 | 0.0237 | -11 | c.555 others(28): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129889946 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0087 | 1 | 338 | 0.0030 | -11 | c.555 others(30): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129914863 | ACCCTCAG others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0182 | 1 | 338 | 0.0030 | -11 | c.555 others(30): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF4_chr20_2687780_2765108 | 2748040 | ACTCTGGG others(4): Show |
A | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 388 | 0.0026 | -11 | c.558 others(26): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 6/16 | chr20 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4232240 | AAAAAAGA others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(49): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0238a0002c0002t0001g0192a0002c0002t0002g0003others(24): Show | 52 | 438 | 0.1187 | -11 | c.201 others(26): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EBPL_chr13_49655674_49696486 | 49666886 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0296a0001c0001t0001g0297others(1): Show | 6 | 410 | 0.0146 | -11 | c.241 others(28): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 2/3 | chr13 | TogoVar | ||||||
EBPL_chr13_49655674_49696486 | 49683544 | AACAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00642.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0046others(22): Show | 36 | 410 | 0.0878 | -11 | c.171 others(28): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | ||||||
EBPL_chr13_49655674_49696486 | 49687525 | TGAGCCTT others(4): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 410 | 0.0024 | -11 | c.171 others(28): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21254068 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 304 | 0.0033 | -11 | c.102 others(30): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 8/18 | chr1 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21283263 | GAATTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01074.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0006 | a0001c0001t0001a0001c0001t0006a0002c0004t0006others(1): Show | a0001c0001t0001g0212a0001c0001t0006g0012a0001c0001t0006g0014others(5): Show | 9 | 304 | 0.0296 | -11 | c.139 others(28): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184274718 | TGAAAGAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0056 | 1 | 398 | 0.0025 | -11 | c.-14 others(22): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1303 | chr3 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184274779 | GAAAGAAA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00738.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0009a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0009g0083a0001c0002t0001g0001a0001c0002t0001g0005others(8): Show | 26 | 398 | 0.0653 | -11 | c.-13 others(22): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1242 | chr3 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184283561 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01975.hp1 HG02735.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0125a0001c0002t0001g0144a0001c0002t0001g0145others(4): Show | 7 | 398 | 0.0176 | -11 | c.817 others(26): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ECE2_chr3_184271022_184298031 | 184296561 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18952.hp1 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0006 | 2 | 398 | 0.0050 | -11 | c.*43 others(22): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 3531 | chr3 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127311669 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01257.hp1 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0020a0001c0001t0001g0144a0001c0001t0001g0146others(4): Show | 9 | 358 | 0.0251 | -11 | c.497 others(28): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC2_chr1_52890910_52926740 | 52900569 | CATATGTG others(4): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 314 | 0.0032 | -11 | c.703 others(28): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | TogoVar | ||||||
ECHDC3_chr10_11737382_11769070 | 11746328 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02897.hp1 HG03704.hp1 others(3): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0164a0001c0002t0002g0043a0001c0002t0002g0084others(3): Show | 6 | 420 | 0.0143 | -11 | c.171 others(27): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ECHDC3_chr10_11737382_11769070 | 11759360 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02970.hp1 NA19030.hp2 |
a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0184a0002c0012t0003g0185 | 2 | 420 | 0.0048 | -11 | c.591 others(28): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ECI2_chr6_4110706_4140575 | 4127404 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01109.hp2 others(24): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0022others(6): Show | 27 | 370 | 0.0730 | -11 | c.571 others(26): Show |
ECI2 | ENSG00000198721.13 | transcript | ENST00000380118.8 | protein_coding | 5/9 | chr6 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111407403 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG03942.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0050a0002c0002t0001g0038 | 2 | 354 | 0.0057 | -11 | c.265 others(30): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106069141 | TTCTTTCT others(4): Show |
T | intron_variant | MODIFIER | NA18972.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0239 | 2 | 434 | 0.0046 | -11 | c.80- others(26): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECRG4_chr2_106060688_106083155 | 106071322 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0146a0001c0001t0001g0196 | 3 | 434 | 0.0069 | -11 | c.80- others(24): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECSCR_chr5_139443560_139467743 | 139458500 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0114a0001c0001t0001g0115 | 6 | 369 | 0.0163 | -11 | c.62- others(24): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138847355 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0211a0001c0001t0016g0212 | 2 | 326 | 0.0061 | -11 | c.903 others(26): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138850994 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(7): Show |
a0001a0005a0010others(1): Show | a0001c0001a0005c0007a0005c0024others(2): Show | a0001c0001t0008a0005c0007t0001a0005c0024t0005others(2): Show | a0001c0001t0008g0046a0005c0007t0001g0300a0005c0007t0001g0301others(7): Show | 10 | 326 | 0.0307 | -11 | c.106 others(30): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138867655 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 326 | 0.0031 | -11 | c.147 others(28): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138885022 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0044a0001c0001t0004g0040 | 2 | 326 | 0.0061 | -11 | c.202 others(28): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138890492 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 326 | 0.0031 | -11 | c.241 others(30): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2_chr3_172745726_172826474 | 172802112 | TTTTTGTT others(4): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0083 | 1 | 318 | 0.0031 | -11 | c.190 others(28): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EDA2R_chrX_66590637_66644078 | 66620965 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02257.hp2 others(11): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0003a0002c0004t0003 | a0002c0002t0003g0015a0002c0002t0003g0016a0002c0002t0003g0040others(9): Show | 14 | 222 | 0.0631 | -11 | c.-10 others(28): Show |
EDA2R | ENSG00000131080.15 | transcript | ENST00000374719.8 | protein_coding | 1/6 | chrX | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405284 | GACTTTGT others(4): Show |
G | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0033 | 1 | 294 | 0.0034 | -11 | c.62- others(26): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236421489 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(7): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(4): Show | a0002c0002t0002g0222a0002c0002t0006g0239a0002c0002t0007g0224others(7): Show | 10 | 294 | 0.0340 | -11 | c.161 others(28): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |