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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNLT1_chr6_158631474_158649743 | 158636069 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02027.hp1 HG02071.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0041others(2): Show | 38 | 396 | 0.0960 | -7 | c.*75 others(16): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37411049 | TAAAAAAA | T | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0024a0001c0001t0045a0001c0001t0169others(3): Show | a0001c0001t0024g0169a0001c0001t0045g0318a0001c0001t0169g0319others(3): Show | 6 | 350 | 0.0171 | -7 | c.-76 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK3_chr1_206630536_206660158 | 206656247 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(101): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0014a0001c0001t0023others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(30): Show | 104 | 396 | 0.2626 | -7 | c.*72 others(18): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 1090 | chr1 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4561454 | TTTTTTTC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01109.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0004t0001a0001c0005t0001 | a0001c0002t0001g0045a0001c0004t0001g0035a0001c0004t0001g0049others(7): Show | 13 | 414 | 0.0314 | -7 | c.-79 others(16): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 753 | chr12 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4600849 | GCCCCTTC | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(68): Show |
a0001 | a0001c0003a0001c0010a0001c0012others(3): Show | a0001c0003t0001a0001c0010t0001a0001c0012t0001others(3): Show | a0001c0003t0001g0009a0001c0003t0001g0010a0001c0003t0001g0011others(63): Show | 71 | 414 | 0.1715 | -7 | c.112 others(26): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DYTN_chr2_206646621_206723396 | 206657002 | TCCGCCCA | T | intron_variant | MODIFIER | HG00140.hp1 HG01192.hp2 HG01975.hp1 |
a0001a0018 | a0001c0001a0018c0023 | a0001c0001t0001a0018c0023t0001 | a0001c0001t0001g0098a0001c0001t0001g0136a0018c0023t0001g0139 | 3 | 382 | 0.0079 | -7 | c.163 others(26): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206659162 | CTCTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01070.hp1 others(12): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0005 | a0002c0002t0001a0003c0003t0001a0004c0005t0001 | a0002c0002t0001g0032a0002c0002t0001g0047a0002c0002t0001g0055others(12): Show | 15 | 382 | 0.0393 | -7 | c.163 others(26): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206659484 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(55): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0001 | a0002c0002t0001g0007a0002c0002t0001g0018a0002c0002t0001g0027others(54): Show | 58 | 382 | 0.1518 | -7 | c.163 others(26): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95606372 | ATACCCAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(126): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0008a0001c0001t0002g0033a0001c0001t0002g0053others(122): Show | 129 | 382 | 0.3377 | -7 | c.142 others(24): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 13/22 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95634430 | TTAGAATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0028others(257): Show | 267 | 382 | 0.6990 | -7 | c.598 others(24): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 5/22 | chr13 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23511476 | TCCTCCTG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0013a0001c0001t0005g0038a0001c0001t0005g0039others(13): Show | 17 | 396 | 0.0429 | -7 | c.104 others(26): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
E2F3_chr6_20396879_20498714 | 20462859 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(83): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0027a0001c0001t0001g0039a0001c0001t0001g0040others(82): Show | 86 | 336 | 0.2560 | -7 | c.394 others(26): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EAPP_chr14_34510938_34544701 | 34518325 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0152a0001c0002t0001g0003a0001c0002t0001g0025others(31): Show | 40 | 360 | 0.1111 | -7 | c.582 others(24): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158969897 | AAAGAAAG | A | intron_variant | MODIFIER | HG01074.hp1 HG01433.hp2 HG01891.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0086a0001c0002t0002a0001c0002t0089 | a0001c0001t0086g0154a0001c0002t0002g0089a0001c0002t0089g0187 | 3 | 196 | 0.0153 | -7 | c.554 others(28): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159006647 | TAAAAAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(19): Show | a0001c0001t0002g0150a0001c0001t0006g0019a0001c0001t0007g0066others(30): Show | 33 | 196 | 0.1684 | -7 | c.554 others(26): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25851581 | TAAGAAAG | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02572.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0054a0002c0003t0005g0100a0002c0003t0005g0101others(4): Show | 7 | 220 | 0.0318 | -7 | c.152 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 14/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25899855 | ACCACCCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0080a0001c0001t0001g0119a0001c0001t0002g0011others(32): Show | 35 | 220 | 0.1591 | -7 | c.633 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25907419 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02004.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0014 | a0001c0001t0001g0048a0001c0001t0001g0114a0001c0001t0001g0121others(2): Show | 5 | 220 | 0.0227 | -7 | c.633 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26018496 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00738.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0002g0022a0001c0001t0002g0131a0001c0001t0002g0137others(13): Show | 16 | 220 | 0.0727 | -7 | c.551 others(26): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF4_chr20_2687780_2765108 | 2703256 | TAAAAAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0256a0001c0001t0001g0320a0001c0001t0002g0001others(72): Show | 80 | 388 | 0.2062 | -7 | c.138 others(24): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EBI3_chr19_4224523_4242528 | 4232239 | AAAAAAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01255.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042a0002c0002t0002g0070a0002c0002t0002g0113others(4): Show | 8 | 438 | 0.0183 | -7 | c.201 others(22): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EBLN2_chr3_73056659_73068337 | 73060593 | TGAGTCTC | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00735.hp1 others(157): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0009a0002c0002t0013others(10): Show | a0002c0002t0002g0000a0002c0002t0009g0000a0002c0002t0013g0000others(10): Show | 160 | 428 | 0.3738 | -7 | c.-14 others(18): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1065 | chr3 | TogoVar | ||||||
EBPL_chr13_49655674_49696486 | 49669999 | ATACAATC | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0269a0001c0001t0001g0280 | 4 | 410 | 0.0098 | -7 | c.172 others(22): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | ||||||
ECD_chr10_73128668_73173008 | 73142632 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG02965.hp2 HG03225.hp1 others(4): Show |
a0002a0006 | a0002c0002a0002c0003a0006c0010 | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(1): Show | a0002c0002t0002g0050a0002c0002t0003g0040a0002c0002t0003g0048others(4): Show | 7 | 272 | 0.0257 | -7 | c.112 others(26): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 9/13 | chr10 | TogoVar | ||||||
ECD_chr10_73128668_73173008 | 73153725 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(79): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0003a0002c0008others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(5): Show | a0002c0002t0002g0009a0002c0002t0002g0013a0002c0002t0002g0015others(67): Show | 82 | 272 | 0.3015 | -7 | c.783 others(22): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 6/13 | chr10 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184274783 | GAAAGAGA | G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0002 | a0001c0001t0001g0019a0001c0001t0001g0096a0001c0001t0001g0097others(8): Show | 23 | 398 | 0.0578 | -7 | c.-13 others(18): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1238 | chr3 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184274987 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02717.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0007a0002c0004t0002g0077a0002c0004t0002g0080 | 7 | 398 | 0.0176 | -7 | c.-11 others(18): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1034 | chr3 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184296561 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0004a0002c0003t0002a0002c0004t0002 | a0001c0001t0004g0008a0002c0003t0002g0075a0002c0004t0002g0007others(2): Show | 8 | 398 | 0.0201 | -7 | c.*43 others(18): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 3531 | chr3 | TogoVar | ||||||
ECH1_chr19_38810422_38836794 | 38811490 | ATAAAAAT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0024a0001c0003t0001g0045a0001c0003t0001g0046others(8): Show | 15 | 420 | 0.0357 | -7 | c.*41 others(18): Show |
ECH1 | ENSG00000104823.9 | transcript | ENST00000221418.9 | protein_coding | 3931 | chr19 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127311697 | AAGAAAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(33): Show | 49 | 358 | 0.1369 | -7 | c.497 others(24): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC2_chr1_52890910_52926740 | 52910352 | GTTTTTTT | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009a0001c0001t0004g0010a0001c0001t0004g0152others(6): Show | 15 | 314 | 0.0478 | -7 | c.277 others(24): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
ECHDC2_chr1_52890910_52926740 | 52925807 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0004a0002c0003t0001a0003c0004t0001 | a0001c0001t0004g0010a0001c0001t0004g0164a0001c0001t0004g0165others(6): Show | 13 | 314 | 0.0414 | -7 | c.-41 others(18): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4068 | chr1 | TogoVar | ||||||
ECI2_chr6_4110706_4140575 | 4131875 | CAAAAGAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(153): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0022others(56): Show | 156 | 370 | 0.4216 | -7 | c.214 others(24): Show |
ECI2 | ENSG00000198721.13 | transcript | ENST00000380118.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92528614 | CCACCAGT | C | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG02300.hp2 others(4): Show |
a0001a0009 | a0001c0006a0009c0021 | a0001c0006t0001a0009c0021t0006 | a0001c0006t0001g0010a0001c0006t0001g0064a0001c0006t0001g0065others(3): Show | 7 | 400 | 0.0175 | -7 | c.-27 others(24): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92533329 | ATATATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp1 HG02602.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0288a0001c0001t0001g0310others(6): Show | 10 | 400 | 0.0250 | -7 | c.-28 others(24): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111435846 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01516.hp1 others(17): Show |
a0002 | a0002c0004a0002c0010a0002c0015 | a0002c0004t0001a0002c0010t0001a0002c0015t0001 | a0002c0004t0001g0313a0002c0004t0001g0314a0002c0004t0001g0315others(17): Show | 20 | 354 | 0.0565 | -7 | c.708 others(24): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 7/49 | chr9 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106071322 | TAAAAAAA | T | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG06807.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0191a0001c0001t0001g0199a0001c0001t0001g0296others(3): Show | 6 | 434 | 0.0138 | -7 | c.80- others(20): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECRG4_chr2_106060688_106083155 | 106074397 | ATTAACTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0165a0001c0001t0001g0198a0001c0001t0001g0204others(1): Show | 4 | 434 | 0.0092 | -7 | c.285 others(22): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECSCR_chr5_139443560_139467743 | 139458500 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02559.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0025others(5): Show | 15 | 369 | 0.0407 | -7 | c.62- others(20): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138858697 | CTTTTTTT | C | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG02896.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0011a0006c0015 | a0001c0001t0004a0006c0011t0014a0006c0011t0021others(1): Show | a0001c0001t0004g0040a0006c0011t0014g0013a0006c0011t0014g0237others(3): Show | 6 | 326 | 0.0184 | -7 | c.119 others(26): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138867655 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00738.hp1 others(44): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0079a0001c0001t0001g0111a0001c0001t0001g0114others(44): Show | 47 | 326 | 0.1442 | -7 | c.147 others(24): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236437804 | TGATCTCA | T | intron_variant | MODIFIER | HG02015.hp2 HG02055.hp1 HG02109.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0004others(9): Show | a0001c0001t0001g0125a0001c0001t0001g0213a0001c0001t0004g0122others(15): Show | 18 | 294 | 0.0612 | -7 | c.219 others(26): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236445292 | ATCTCAGC | A | intron_variant | MODIFIER | HG02027.hp1 NA19074.hp1 NA19074.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0059a0001c0001t0002g0071a0001c0003t0001g0015 | 3 | 294 | 0.0102 | -7 | c.219 others(26): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69635566 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01109.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(24): Show | 27 | 226 | 0.1195 | -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 | 69695504 | CCTTCTTT | C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 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 | 69764234 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp2 HG01074.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0039a0001c0001t0001g0046a0001c0001t0001g0113others(24): Show | 27 | 226 | 0.1195 | -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 | 69782366 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00741.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0040a0001c0001t0001g0043others(7): Show | 10 | 226 | 0.0443 | -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 | 69810257 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0132 | 2 | 226 | 0.0089 | -7 | c.397 others(28): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69910419 | GTGTGTGT | G | intron_variant | MODIFIER | HG01109.hp1 HG02615.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0124a0001c0001t0003g0023a0001c0001t0008g0184 | 3 | 226 | 0.0133 | -7 | c.397 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69961018 | AAAAAAAG | A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 226 | 0.0044 | -7 | c.502 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |