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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF4G3_chr1_20801479_21181897 | 21125801 | CACACTCT | C | intron_variant | MODIFIER | HG01074.hp2 HG01516.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271a0001c0001t0003g0272a0001c0001t0003g0273 | 3 | 312 | 0.0096 | -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(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0003g0026a0001c0001t0003g0027a0001c0001t0003g0239others(45): Show | 48 | 312 | 0.1539 | -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 |
a0001a0003 | a0001c0002a0001c0003a0001c0009others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0001g0006a0001c0002t0001g0011a0001c0002t0001g0012others(71): Show | 93 | 342 | 0.2719 | -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(190): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0011others(190): Show | 193 | 250 | 0.7720 | -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 | a0001c0001t0003g0019a0001c0001t0003g0021a0001c0001t0003g0036 | 3 | 250 | 0.0120 | -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 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0079others(33): Show | 36 | 250 | 0.1440 | -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 | a0001c0001t0001g0001a0001c0001t0001g0109a0001c0001t0001g0111 | 3 | 250 | 0.0120 | -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(227): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0001c0018others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(148): Show | 230 | 400 | 0.5750 | -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 |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0004a0007c0017t0004 | a0001c0001t0004g0016a0001c0001t0004g0017a0001c0001t0004g0026others(5): Show | 12 | 400 | 0.0300 | -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 | a0001c0001t0001g0006a0001c0001t0001g0023a0001c0001t0001g0042others(63): Show | 66 | 230 | 0.2870 | -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(59): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0022others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0018a0001c0001t0002g0029a0001c0001t0002g0032others(59): Show | 62 | 230 | 0.2696 | -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 |
a0001a0004a0008 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0021a0001c0001t0001g0031a0001c0001t0001g0032others(46): Show | 49 | 196 | 0.2500 | -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 | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0067others(34): Show | 37 | 352 | 0.1051 | -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 | a0001c0001t0001g0188a0001c0001t0001g0190a0001c0001t0001g0220others(4): Show | 7 | 352 | 0.0199 | -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 | a0001c0005t0003g0132a0001c0005t0003g0166a0001c0005t0003g0341others(6): Show | 9 | 362 | 0.0249 | -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 | a0001c0001t0001g0317a0001c0003t0001g0321a0002c0002t0002g0318others(1): Show | 4 | 362 | 0.0111 | -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 | a0002c0002t0002g0112a0002c0002t0002g0113a0002c0002t0002g0198others(1): Show | 4 | 342 | 0.0117 | -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(68): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0299a0001c0001t0002g0003a0001c0001t0002g0007others(68): Show | 71 | 342 | 0.2076 | -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 | a0001c0001t0001g0074a0001c0001t0001g0269a0001c0001t0001g0277others(7): Show | 10 | 342 | 0.0292 | -7 | c.-25 others(28): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130062823 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0146 | 1 | 274 | 0.0037 | -7 | c.*38 others(18): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1131 | chrX | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130070788 | AAAGAAAG | A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0104 | 1 | 274 | 0.0037 | -7 | c.809 others(22): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 7/8 | chrX | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96208046 | AGTTTTTT | A | intron_variant | MODIFIER | NA18942.hp2 NA19054.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0134 | 3 | 354 | 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 | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0042others(117): Show | 123 | 354 | 0.3475 | -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 | a0001c0002t0002g0239a0001c0002t0016g0033a0001c0002t0016g0147others(4): Show | 9 | 424 | 0.0212 | -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(175): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(113): Show | 178 | 424 | 0.4198 | -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 | a0001c0001t0002g0193a0001c0001t0002g0291a0001c0001t0002g0292others(2): Show | 5 | 314 | 0.0159 | -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 | a0001c0003t0004g0003a0001c0003t0004g0004a0001c0003t0004g0005others(21): Show | 27 | 314 | 0.0860 | -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 | a0001c0001t0002g0025a0001c0001t0002g0045a0001c0001t0002g0047others(10): Show | 13 | 244 | 0.0533 | -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 | a0001c0001t0001g0005a0001c0001t0001g0024a0001c0001t0001g0025others(30): Show | 33 | 92 | 0.3587 | -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 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0090others(13): Show | 16 | 92 | 0.1739 | -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 | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025others(26): Show | 29 | 92 | 0.3152 | -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 | a0001c0001t0001g0029a0001c0001t0002g0019a0001c0001t0003g0044others(2): Show | 5 | 92 | 0.0544 | -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 | a0001c0001t0001g0022a0001c0001t0002g0067a0001c0001t0003g0072others(6): Show | 9 | 92 | 0.0978 | -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 | a0001c0001t0005g0261a0001c0002t0004g0202a0001c0002t0006g0029 | 3 | 342 | 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 | a0001c0001t0001g0021a0001c0001t0001g0219a0001c0001t0001g0232others(16): Show | 19 | 342 | 0.0556 | -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 | a0001c0001t0001g0197a0001c0001t0002g0267a0001c0001t0005g0087others(19): Show | 22 | 342 | 0.0643 | -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 | a0001c0001t0001g0197a0001c0001t0005g0087a0001c0001t0005g0116others(11): Show | 14 | 342 | 0.0409 | -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 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(17): Show | 22 | 400 | 0.0550 | -7 | c.*56 others(18): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar | ||||||
ELOF1_chr19_11548046_11564230 | 11550971 | ACACGACC | A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0033 | a0001c0001t0004g0005a0001c0001t0004g0114a0001c0001t0005g0006others(1): Show | 8 | 412 | 0.0194 | -7 | c.*27 others(18): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 2074 | chr19 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10978299 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG02602.hp2 HG02818.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0009 | a0001c0002t0001g0018a0001c0002t0001g0290a0001c0002t0001g0295others(4): Show | 8 | 380 | 0.0211 | -7 | c.*54 others(18): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2459 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10990617 | CACCAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0284a0001c0002t0001g0285a0001c0002t0001g0287others(1): Show | 4 | 380 | 0.0105 | -7 | c.506 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11004416 | CTTTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0001t0010a0001c0001t0017others(2): Show | a0001c0001t0006g0003a0001c0001t0006g0017a0001c0001t0006g0020others(18): Show | 28 | 380 | 0.0737 | -7 | c.255 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11029223 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01884.hp1 others(18): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0001t0017a0001c0001t0019others(1): Show | a0001c0001t0006g0003a0001c0001t0006g0017a0001c0001t0006g0020others(14): Show | 21 | 380 | 0.0553 | -7 | c.3+1 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11032342 | CAAAAAAA | C | intron_variant | MODIFIER | HG01361.hp2 HG02486.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0302a0001c0001t0012g0303a0001c0001t0012g0304others(3): Show | 6 | 380 | 0.0158 | -7 | c.3+1 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53306208 | AAGGGGAG | A | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01167.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0060a0001c0001t0001g0066others(13): Show | 16 | 320 | 0.0500 | -7 | c.-8- others(24): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53306312 | AGGGAGAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0164a0001c0001t0001g0166a0001c0001t0001g0178others(33): Show | 36 | 320 | 0.1125 | -7 | c.-8- others(24): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53306359 | AGAGAGAG | A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162others(1): Show | 4 | 320 | 0.0125 | -7 | c.-8- others(24): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084050 | TATATATG | T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0121others(16): Show | 19 | 338 | 0.0562 | -7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084362 | CATATATG | C | intron_variant | MODIFIER | HG02622.hp2 NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0075 | a0001c0001t0026g0216a0001c0001t0026g0330a0001c0001t0075g0074 | 3 | 338 | 0.0089 | -7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084497 | TATATATC | T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02258.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(12): Show | a0001c0001t0001g0044a0001c0001t0001g0070a0001c0001t0001g0071others(23): Show | 26 | 338 | 0.0769 | -7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar |