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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF3J_chr15_44532147_44567803 | 44567184 | TATTAAAA | T | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0227 a0002c0002t0003g0022 a0002c0002t0003g0223 others(3): Show |
7 | 290 | 0.0241 | -7 | c.*60 others(18): Show |
EIF3J | ENSG00000104131.13 | transcript | ENST00000261868.10 | protein_coding | 4382 | chr15 | TogoVar | |||||||
EIF3K_chr19_38614188_38641954 | 38637911 | ATATTTTT | A | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 others(1): Show |
4 | 244 | 0.0164 | -7 | c.*99 others(16): Show |
EIF3K | ENSG00000178982.10 | transcript | ENST00000248342.9 | protein_coding | 958 | chr19 | TogoVar | |||||||
EIF3L_chr22_37844419_37894407 | 37884901 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007a0001c0002t0008 | a0001c0002t0001g0001 a0001c0002t0001g0055 a0001c0002t0001g0056 others(14): Show |
18 | 50 | 0.3600 | -7 | c.157 others(26): Show |
EIF3L | ENSG00000100129.18 | transcript | ENST00000652021.1 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EIF4B_chr12_53001456_53047215 | 53003690 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(99): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0022a0001c0001t0027others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(91): Show |
102 | 113 | 0.9027 | -7 | c.-27 others(18): Show |
EIF4B | ENSG00000063046.18 | transcript | ENST00000262056.14 | protein_coding | 2765 | chr12 | TogoVar | |||||||
EIF4E2_chr2_232545689_232574210 | 232546306 | CTCTTTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00639.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(25): Show |
67 | 417 | 0.1607 | -7 | c.-44 others(18): Show |
EIF4E2 | ENSG00000135930.15 | transcript | ENST00000258416.8 | protein_coding | 4382 | chr2 | TogoVar | |||||||
EIF4E2_chr2_232545689_232574210 | 232562943 | CATGTAAG | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(39): Show |
100 | 420 | 0.2381 | -7 | c.271 others(24): Show |
EIF4E2 | ENSG00000135930.15 | transcript | ENST00000258416.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF4E3_chr3_71670414_71730402 | 71713501 | ATCATAGC | A | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00738.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0098 others(40): Show |
46 | 396 | 0.1162 | -7 | c.177 others(24): Show |
EIF4E3 | ENSG00000163412.13 | transcript | ENST00000425534.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
EIF4E3_chr3_71670414_71730402 | 71725482 | AGCCGCCC | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(96): Show |
106 | 337 | 0.3145 | -7 | c.-12 others(16): Show |
EIF4E3 | ENSG00000163412.13 | transcript | ENST00000425534.8 | protein_coding | 81 | chr3 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31479031 | AGACAGAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0141 others(104): Show |
109 | 364 | 0.2995 | -7 | c.97- others(22): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 2/18 | chr22 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31494143 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01993.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0210 a0001c0001t0001g0248 a0001c0001t0001g0250 others(3): Show |
6 | 363 | 0.0165 | -7 | c.-44 others(18): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4302 | chr22 | TogoVar | |||||||
EIF4E_chr4_98874276_98934133 | 98927654 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(120): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(97): Show |
123 | 159 | 0.7736 | -7 | c.18+ others(22): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21068375 | TAAAAAAA | T | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG03209.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(1): Show | a0001c0001t0001g0198 a0001c0001t0011g0274 a0001c0001t0011g0276 others(5): Show |
8 | 111 | 0.0721 | -7 | c.-19 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21075570 | CAAAAAAA | C | intron_variant | MODIFIER | HG01516.hp2 HG02717.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0011 a0001c0001t0003g0271 a0001c0001t0007g0014 others(3): Show |
6 | 55 | 0.1091 | -7 | c.-19 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21098557 | AAAAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01952.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 others(22): Show |
25 | 310 | 0.0806 | -7 | c.-27 others(26): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21125801 | CACACTCT | C | intron_variant | MODIFIER | HG01074.hp2 HG01516.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 |
3 | 310 | 0.0097 | -7 | c.-27 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180154 | CATATAAT | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01361.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 others(44): Show |
47 | 295 | 0.1593 | -7 | c.-38 others(18): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3258 | chr1 | TogoVar | |||||||
EIF5B_chr2_99332389_99406326 | 99353005 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(90): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0009others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0007others(6): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0014 others(67): Show |
93 | 109 | 0.8532 | -7 | c.36- others(22): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3187514 | TCCCCACC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(189): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(189): Show |
192 | 247 | 0.7773 | -7 | c.*18 others(18): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 1455 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3199060 | GGCCCCCC | G | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0036 |
3 | 95 | 0.0316 | -7 | c.517 others(24): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3336868 | AAGGGAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0079 others(33): Show |
36 | 248 | 0.1452 | -7 | c.259 others(24): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3336954 | AGAAAAGG | A | intron_variant | MODIFIER | HG03453.hp1 HG03453.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0111 |
3 | 247 | 0.0121 | -7 | c.259 others(24): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 12992357 | TAGCAGCA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(226): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0001c0018others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(144): Show |
229 | 398 | 0.5754 | -7 | c.*45 others(16): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 24/24 | 454 | chr17 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 13022543 | TCTTTCTC | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02074.hp2 others(9): Show |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0004a0009c0017t0004 | a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0028 others(5): Show |
12 | 398 | 0.0302 | -7 | c.-46 others(18): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4517 | chr17 | TogoVar | |||||||
ELAPOR1_chr1_109109115_109211781 | 109174413 | TAAAAAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00639.hp2 others(63): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0042 others(63): Show |
66 | 73 | 0.9041 | -7 | c.952 others(22): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109210956 | ACAGAAAT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(58): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0022others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 others(58): Show |
61 | 228 | 0.2675 | -7 | c.*79 others(18): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 4176 | chr1 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86890944 | ATCTTCTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00639.hp1 others(46): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0035 others(46): Show |
49 | 194 | 0.2526 | -7 | c.303 others(24): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23702951 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01099.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0067 others(34): Show |
37 | 64 | 0.5781 | -7 | c.488 others(24): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23774236 | AAAGAAAG | A | intron_variant | MODIFIER | HG01934.hp2 HG01943.hp2 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0220 others(4): Show |
7 | 350 | 0.0200 | -7 | c.-15 others(26): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40956571 | CAAAAAAA | C | intron_variant | MODIFIER | NA18612.hp1 NA18950.hp1 NA18960.hp1 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0101 a0001c0005t0003g0241 a0001c0005t0003g0336 others(6): Show |
9 | 111 | 0.0811 | -7 | c.253 others(24): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 41016948 | ATATATAT | A | intron_variant | MODIFIER | NA18961.hp2 NA18991.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0002 | a0001c0001t0001g0139 a0001c0003t0001g0324 a0002c0002t0002g0194 others(1): Show |
4 | 346 | 0.0116 | -7 | c.-22 others(26): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139078348 | TAGTACAA | T | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG02965.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0196 others(1): Show |
4 | 340 | 0.0118 | -7 | c.239 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139121095 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(67): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0296 a0001c0001t0002g0003 a0001c0001t0002g0007 others(67): Show |
70 | 173 | 0.4046 | -7 | c.238 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139151033 | AAAGAAAG | A | intron_variant | MODIFIER | HG01257.hp1 HG01943.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074 a0001c0001t0001g0268 a0001c0001t0001g0281 others(7): Show |
10 | 310 | 0.0323 | -7 | c.-25 others(28): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
ELK3_chr12_96189375_96274824 | 96208046 | AGTTTTTT | A | intron_variant | MODIFIER | NA18942.hp2 NA19054.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 |
3 | 352 | 0.0085 | -7 | c.-3+ others(24): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96211486 | TTTGTGTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(120): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0086 a0001c0001t0001g0087 others(117): Show |
123 | 258 | 0.4767 | -7 | c.-2- others(24): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELK4_chr1_205602943_205637011 | 205621193 | TAAAAAAA | T | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0016a0001c0002t0020others(2): Show | a0001c0002t0002g0237 a0001c0002t0016g0032 a0001c0002t0016g0145 others(4): Show |
9 | 192 | 0.0469 | -7 | c.208 others(22): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
ELK4_chr1_205602943_205637011 | 205634386 | ATTTTGTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(174): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(111): Show |
177 | 422 | 0.4194 | -7 | c.-27 others(18): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 2376 | chr1 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95903956 | ATTGTCTC | A | intron_variant | MODIFIER | HG00558.hp1 NA18940.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 a0001c0001t0002g0289 a0001c0001t0002g0290 others(2): Show |
5 | 312 | 0.0160 | -7 | c.741 others(24): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 5/11 | chr5 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95946923 | GGAGTGGT | G | intron_variant | MODIFIER | HG00609.hp1 HG01168.hp1 HG01496.hp1 others(24): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0004a0001c0003t0005a0001c0003t0024others(2): Show | a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0006 others(21): Show |
27 | 312 | 0.0865 | -7 | c.148 others(24): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18491249 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0047 others(10): Show |
13 | 66 | 0.1970 | -7 | c.136 others(26): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36950131 | GAAAACAA | G | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01192.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(30): Show |
33 | 90 | 0.3667 | -7 | c.143 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37104010 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01192.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0090 others(13): Show |
16 | 27 | 0.5926 | -7 | c.119 others(26): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 14/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37223972 | ACCAGGGG | A | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01123.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(26): Show |
29 | 90 | 0.3222 | -7 | c.701 others(22): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 9/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37267024 | AAAATATG | A | intron_variant | MODIFIER | HG02886.hp2 HG03195.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029 a0001c0001t0002g0019 a0001c0001t0003g0044 others(2): Show |
5 | 90 | 0.0556 | -7 | c.243 others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 5/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37328383 | CAAAAAAA | C | intron_variant | MODIFIER | HG01192.hp1 HG01978.hp2 HG02080.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0022 a0001c0001t0002g0067 a0001c0001t0003g0072 others(6): Show |
9 | 23 | 0.3913 | -7 | c.79- others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107590388 | CTCTCTCT | C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 NA19002.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004a0001c0002t0006 | a0001c0001t0005g0261 a0001c0002t0004g0202 a0001c0002t0006g0029 |
3 | 340 | 0.0088 | -7 | c.-11 others(18): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 758 | chr11 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107615985 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG02135.hp2 HG02602.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0219 a0001c0001t0001g0232 others(16): Show |
19 | 44 | 0.4318 | -7 | c.-85 others(24): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107641939 | CTTTTTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0197 a0001c0001t0002g0267 a0001c0001t0005g0086 others(19): Show |
22 | 196 | 0.1122 | -7 | c.421 others(24): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107644913 | TGTTTTTG | T | intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0002t0005others(2): Show | a0001c0001t0001g0197 a0001c0001t0005g0086 a0001c0001t0005g0115 others(11): Show |
14 | 340 | 0.0412 | -7 | c.421 others(24): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
ELOA_chr1_23738471_23767059 | 23765206 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01169.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(15): Show |
22 | 28 | 0.7857 | -7 | c.*56 others(18): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar |