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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF4B_chr12_53001456_53047215 | 53030413 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0040others(19): Show | 22 | 372 | 0.0591 | 22 | c.979 others(39): Show |
EIF4B | ENSG00000063046.18 | transcript | ENST00000262056.14 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EIF4E3_chr3_71670414_71730402 | 71729798 | A | ATGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 398 | 0.0025 | 22 | c.-44 others(33): Show |
EIF4E3 | ENSG00000163412.13 | transcript | ENST00000425534.8 | protein_coding | 4397 | chr3 | TogoVar | ||||||
EIF4EBP1_chr8_38025534_38065365 | 38060321 | T | TCCCCAAG others(15): Show |
3_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0141 | 1 | 344 | 0.0029 | 22 | c.*38 others(31): Show |
EIF4EBP1 | ENSG00000187840.5 | transcript | ENST00000338825.5 | protein_coding | 3/3 | 410 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
EIF4ENIF1_chr22_31434367_31494842 | 31441550 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 366 | 0.0027 | 22 | c.255 others(39): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 17/18 | chr22 | TogoVar | ||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03139.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0253a0001c0004t0001g0112 | 2 | 366 | 0.0055 | 22 | c.299 others(37): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | ||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 366 | 0.0027 | 22 | c.299 others(37): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | ||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03669.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0321a0001c0003t0001g0351 | 2 | 366 | 0.0055 | 22 | c.299 others(37): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20863378 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 | 1 | 312 | 0.0032 | 22 | c.300 others(41): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 22/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21083037 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18979.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0229a0001c0001t0004g0231a0001c0001t0004g0235 | 3 | 312 | 0.0096 | 22 | c.-19 others(41): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21117736 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02015.hp2 HG02300.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0125a0001c0001t0001g0134a0001c0001t0001g0135others(10): Show | 13 | 312 | 0.0417 | 22 | c.-27 others(43): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | ||||||
EIF5B_chr2_99332389_99406326 | 99338993 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(99): Show |
a0002 | a0002c0001a0002c0007 | a0002c0001t0002a0002c0001t0005a0002c0001t0018others(3): Show | a0002c0001t0002g0019a0002c0001t0002g0192a0002c0001t0002g0197others(96): Show | 102 | 342 | 0.2983 | 22 | c.35+ others(37): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EIPR1_chr2_3183970_3382818 | 3199060 | G | GCCCCCCC others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 250 | 0.0040 | 22 | c.517 others(39): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3269655 | T | TCAATCAT others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 250 | 0.0040 | 22 | c.260 others(41): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109113451 | A | AGAGAGAG others(15): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0053a0001c0001t0005g0058 | 2 | 230 | 0.0087 | 22 | c.-73 others(31): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 663 | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109113467 | A | AGAGAGAG others(15): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 230 | 0.0044 | 22 | c.-71 others(31): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 647 | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109144061 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03225.hp1 |
a0003 | a0003c0004a0003c0030 | a0003c0004t0004a0003c0030t0004 | a0003c0004t0004g0068a0003c0030t0004g0081 | 2 | 230 | 0.0087 | 22 | c.154 others(41): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR1_chr1_109109115_109211781 | 109144061 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0071 | 1 | 230 | 0.0044 | 22 | c.154 others(41): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR1_chr1_109109115_109211781 | 109144061 | A | ATATATTT others(15): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0080 | 1 | 230 | 0.0044 | 22 | c.154 others(41): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR2_chr7_86871906_87064654 | 87045392 | A | ATGCCCAC others(15): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 196 | 0.0051 | 22 | c.189 others(41): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELAVL1_chr19_7953573_8010641 | 7957359 | G | GAAAGAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0167 | 2 | 276 | 0.0073 | 22 | c.*61 others(33): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1213 | chr19 | TogoVar | ||||||
ELAVL2_chr9_23685104_23831240 | 23735105 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03017.hp1 HG03225.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0018others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0217a0001c0001t0015g0117others(4): Show | 7 | 352 | 0.0199 | 22 | c.230 others(39): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
ELAVL2_chr9_23685104_23831240 | 23759754 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 352 | 0.0028 | 22 | c.229 others(39): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
ELAVL2_chr9_23685104_23831240 | 23830601 | T | TACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG03017.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0070others(2): Show | 5 | 352 | 0.0142 | 22 | c.-48 others(33): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4362 | chr9 | TogoVar | ||||||
ELAVL3_chr19_11446326_11486046 | 11464123 | G | GTCTCTCT others(15): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0019 | 1 | 318 | 0.0031 | 22 | c.333 others(39): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139114561 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0114 | 1 | 342 | 0.0029 | 22 | c.238 others(41): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139151031 | A | AAGAAAAG others(15): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208a0001c0001t0003g0209 | 2 | 342 | 0.0059 | 22 | c.-25 others(43): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130102876 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02280.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0010a0001c0001t0005g0004a0001c0001t0005g0122others(2): Show | 5 | 274 | 0.0183 | 22 | c.-21 others(41): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130102919 | A | AAAGAAAG others(15): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0126 | 1 | 274 | 0.0037 | 22 | c.-21 others(41): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | ||||||
ELF5_chr11_34473791_34518794 | 34473975 | G | GTCTTTTG others(15): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 436 | 0.0023 | 22 | c.*62 others(33): Show |
ELF5 | ENSG00000135374.11 | transcript | ENST00000257832.7 | protein_coding | 4815 | chr11 | TogoVar | ||||||
ELFN2_chr22_37362960_37432479 | 37431867 | A | AACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0225 | 1 | 334 | 0.0030 | 22 | c.-51 others(33): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 4389 | chr22 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96271489 | C | CTGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0044a0001c0001t0006g0274 | 2 | 354 | 0.0057 | 22 | c.*43 others(33): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1666 | chr12 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95907296 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0037 | 1 | 314 | 0.0032 | 22 | c.482 others(37): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 4/11 | chr5 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95927426 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 314 | 0.0032 | 22 | c.196 others(39): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95927452 | C | CACACACG others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214a0001c0001t0002g0218 | 2 | 314 | 0.0064 | 22 | c.196 others(39): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95927550 | C | CACACACG others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237a0001c0001t0002g0241 | 2 | 314 | 0.0064 | 22 | c.196 others(39): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95927772 | C | CATGTGTA others(15): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18986.hp2 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0072a0002c0002t0001g0093a0002c0002t0013g0064 | 3 | 314 | 0.0096 | 22 | c.196 others(39): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18454840 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 NA19240.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0005c0014t0001 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0203others(1): Show | 4 | 244 | 0.0164 | 22 | c.870 others(39): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 6/11 | chr19 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 36849025 | C | CTCTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0028 | 1 | 92 | 0.0109 | 22 | c.*65 others(33): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 3880 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 36897336 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01123.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0029others(16): Show | 19 | 92 | 0.2065 | 22 | c.143 others(41): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 36897349 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0064 | 1 | 92 | 0.0109 | 22 | c.143 others(41): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37161905 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02080.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0009a0001c0001t0003g0026a0001c0001t0008g0092others(2): Show | 5 | 92 | 0.0544 | 22 | c.108 others(43): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37247895 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 92 | 0.0109 | 22 | c.414 others(39): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 6/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37417683 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01123.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0003g0044a0001c0002t0001g0054a0001c0002t0002g0048others(4): Show | 7 | 92 | 0.0761 | 22 | c.-74 others(41): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGCGGG others(15): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG03710.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0127a0001c0001t0004g0239others(2): Show | 5 | 312 | 0.0160 | 22 | c.-47 others(33): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGGGG others(15): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0151 | 1 | 312 | 0.0032 | 22 | c.-47 others(33): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107626660 | C | CTTTCCCT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(152): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0014others(150): Show | 155 | 342 | 0.4532 | 22 | c.18- others(37): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELOC_chr8_73940119_73977191 | 73976049 | A | AGGCGGCA others(15): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(64): Show | 77 | 404 | 0.1906 | 22 | c.-40 others(33): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3859 | chr8 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10978305 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 380 | 0.0026 | 22 | c.*54 others(33): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2453 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10978310 | T | TATATATA others(15): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 380 | 0.0026 | 22 | c.*54 others(33): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2448 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11043404 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19065.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0071 | 3 | 380 | 0.0079 | 22 | c.3+8 others(33): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar |