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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DZANK1_chr20_18378367_18472030 | 18450077 | CAAATAAA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(80): Show |
a0001a0002a0003others(4): Show | a0001c0010a0001c0020a0002c0005others(8): Show | a0001c0010t0001a0001c0020t0001a0002c0005t0003others(12): Show | a0001c0010t0001g0021a0001c0010t0001g0222a0001c0010t0001g0223others(66): Show | 83 | 374 | 0.2219 | -16 | c.601 others(33): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 6/20 | chr20 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95610055 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(94): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0008a0001c0001t0002g0033a0001c0001t0002g0058others(91): Show | 97 | 382 | 0.2539 | -16 | c.136 others(33): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 12/22 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95621665 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 382 | 0.0026 | -16 | c.111 others(33): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 9/22 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95637604 | ATCTCTCT others(9): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0366 | 1 | 382 | 0.0026 | -16 | c.597 others(33): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 5/22 | chr13 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108616265 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(3): Show | 6 | 318 | 0.0189 | -16 | c.259 others(31): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
E2F2_chr1_23501438_23536233 | 23513562 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0024a0001c0001t0025 | a0001c0001t0008g0030a0001c0001t0008g0061a0001c0001t0008g0320others(3): Show | 7 | 396 | 0.0177 | -16 | c.104 others(35): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23520243 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA18963.hp2 NA18979.hp2 NA19083.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0020 | a0002c0002t0001g0217a0002c0002t0001g0219a0002c0002t0020g0218 | 3 | 396 | 0.0076 | -16 | c.737 others(31): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
E2F3_chr6_20396879_20498714 | 20436464 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 336 | 0.0030 | -16 | c.393 others(35): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F3_chr6_20396879_20498714 | 20460996 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0084a0001c0001t0003g0246a0001c0001t0009g0329others(1): Show | 4 | 336 | 0.0119 | -16 | c.394 others(35): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F3_chr6_20396879_20498714 | 20464405 | ATCTCTTA others(9): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 336 | 0.0030 | -16 | c.394 others(35): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F5_chr8_85172154_85219518 | 85180506 | CTATACAT others(9): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 336 | 0.0030 | -16 | c.234 others(33): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
E2F5_chr8_85172154_85219518 | 85180511 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01256.hp1 HG01256.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0010others(20): Show | 28 | 336 | 0.0833 | -16 | c.234 others(33): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
E2F7_chr12_77016251_77070569 | 77068789 | GTATATAT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0040a0001c0001t0002g0255a0001c0001t0002g0275others(3): Show | 6 | 394 | 0.0152 | -16 | c.-34 others(27): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3221 | chr12 | TogoVar | ||||||
E2F7_chr12_77016251_77070569 | 77068802 | TATATATA others(9): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0148 | 1 | 394 | 0.0025 | -16 | c.-34 others(27): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3234 | chr12 | TogoVar | ||||||
EAF2_chr3_121830209_121891526 | 121841504 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA19062.hp1 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142a0001c0002t0001g0186 | 2 | 318 | 0.0063 | -16 | c.107 others(33): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EAPP_chr14_34510938_34544701 | 34544073 | ATATGTGT others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0098a0001c0001t0001g0186others(30): Show | 41 | 360 | 0.1139 | -16 | c.-44 others(27): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 4373 | chr14 | TogoVar | ||||||
EBAG9_chr8_109535173_109570996 | 109543135 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01261.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0002g0010a0001c0001t0002g0015a0001c0001t0002g0018others(33): Show | 51 | 356 | 0.1433 | -16 | c.-16 others(33): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EBF1_chr5_158690920_159104916 | 158775783 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0053a0001c0001t0078 | a0001c0001t0009g0080a0001c0001t0053g0049a0001c0001t0078g0152 | 3 | 196 | 0.0153 | -16 | c.103 others(35): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158819995 | TCCATGGG others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 196 | 0.0051 | -16 | c.778 others(33): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 8/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158822259 | CGGATGGA others(9): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0091 | a0001c0001t0001g0147a0001c0002t0091g0182 | 2 | 196 | 0.0102 | -16 | c.778 others(31): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 8/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158866833 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02027.hp2 HG02040.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0032a0001c0001t0043others(6): Show | a0001c0001t0005g0129a0001c0001t0032g0006a0001c0001t0043g0029others(6): Show | 9 | 196 | 0.0459 | -16 | c.555 others(35): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158969842 | GAGAAAGA others(9): Show |
G | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 196 | 0.0051 | -16 | c.554 others(37): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158969904 | GAAAGAAA others(9): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158 | 1 | 196 | 0.0051 | -16 | c.554 others(37): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158978781 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 196 | 0.0051 | -16 | c.554 others(35): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159068371 | GTGGATGG others(9): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01070.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0136a0001c0001t0002g0121a0001c0001t0002g0133others(25): Show | 28 | 196 | 0.1429 | -16 | c.554 others(33): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25838188 | GCTCTCTC others(9): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0101 | 1 | 220 | 0.0046 | -16 | c.*64 others(27): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3536 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25849895 | TATGCCAA others(9): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG01346.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0029a0001c0001t0004g0070a0001c0001t0004g0090others(5): Show | 8 | 220 | 0.0364 | -16 | c.169 others(33): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 15/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25895923 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02965.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0031a0001c0004t0010 | a0001c0001t0003g0208a0001c0001t0031g0150a0001c0004t0010g0007 | 3 | 220 | 0.0136 | -16 | c.634 others(33): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25934224 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0106a0001c0001t0027g0103 | 2 | 220 | 0.0091 | -16 | c.552 others(35): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129880336 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0055 | a0001c0001t0005g0164a0001c0001t0055g0334 | 2 | 338 | 0.0059 | -16 | c.555 others(33): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129957581 | CTAAAATA others(9): Show |
C | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 338 | 0.0030 | -16 | c.486 others(31): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 5/16 | chr10 | TogoVar | ||||||
EBF4_chr20_2687780_2765108 | 2705785 | CCACACAC others(9): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0002t0001g0289a0001c0003t0001g0247a0001c0003t0001g0254others(8): Show | 11 | 388 | 0.0284 | -16 | c.294 others(30): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EBI3_chr19_4224523_4242528 | 4232230 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0220a0001c0008t0001g0193 | 2 | 438 | 0.0046 | -16 | c.201 others(31): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EBI3_chr19_4224523_4242528 | 4232240 | AAAAAAGA others(9): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0157 | 1 | 438 | 0.0023 | -16 | c.201 others(31): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EBI3_chr19_4224523_4242528 | 4232799 | TTAATGAA others(9): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 438 | 0.0023 | -16 | c.201 others(31): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
EBNA1BP2_chr1_43159184_43177290 | 43161852 | CAATAAAT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02647.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(2): Show | 8 | 392 | 0.0204 | -16 | c.*25 others(27): Show |
EBNA1BP2 | ENSG00000117395.13 | transcript | ENST00000236051.3 | protein_coding | 2331 | chr1 | TogoVar | ||||||
EBNA1BP2_chr1_43159184_43177290 | 43165253 | AAATAACA others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 392 | 0.0026 | -16 | c.708 others(31): Show |
EBNA1BP2 | ENSG00000117395.13 | transcript | ENST00000236051.3 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21273338 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0101 | 1 | 304 | 0.0033 | -16 | c.281 others(31): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184274718 | TGAAAGAA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01243.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0072a0001c0001t0001g0103others(9): Show | 17 | 398 | 0.0427 | -16 | c.-14 others(27): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1303 | chr3 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184296561 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(152): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0012others(64): Show | 155 | 398 | 0.3895 | -16 | c.*43 others(27): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 3531 | chr3 | TogoVar | ||||||
ECH1_chr19_38810422_38836794 | 38829285 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 420 | 0.0024 | -16 | c.349 others(33): Show |
ECH1 | ENSG00000104823.9 | transcript | ENST00000221418.9 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127309480 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(55): Show | 76 | 358 | 0.2123 | -16 | c.497 others(33): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127333666 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01975.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0026a0001c0001t0001g0028a0001c0001t0001g0029others(15): Show | 22 | 358 | 0.0615 | -16 | c.-2- others(31): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
ECHDC3_chr10_11737382_11769070 | 11749773 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(284): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(145): Show | 287 | 420 | 0.6833 | -16 | c.390 others(31): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ECHDC3_chr10_11737382_11769070 | 11755377 | TGGAAATG others(9): Show |
T | intron_variant | MODIFIER | NA18963.hp2 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0064 | 1 | 420 | 0.0024 | -16 | c.391 others(29): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
ECHS1_chr10_133357485_133378354 | 133373698 | CGCCCGCC others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02630.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0071a0001c0001t0001g0116a0001c0001t0002g0030others(9): Show | 13 | 354 | 0.0367 | -16 | c.-38 others(25): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 345 | chr10 | TogoVar | ||||||
ECM1_chr1_150503109_150518789 | 150503673 | GTGTATAT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | -16 | c.-45 others(27): Show |
ECM1 | ENSG00000143369.15 | transcript | ENST00000369047.9 | protein_coding | 4435 | chr1 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111407403 | GAAAAAAA others(9): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02630.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0247others(1): Show | 4 | 354 | 0.0113 | -16 | c.265 others(35): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111466616 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0316 | 1 | 354 | 0.0028 | -16 | c.22+ others(31): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106071322 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00609.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(39): Show | 74 | 434 | 0.1705 | -16 | c.80- others(29): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |