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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EHD2_chr19_47708422_47748134 | 47741512 | C | CGCCCTGC others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0036a0001c0002t0004g0054a0001c0002t0004g0061others(12): Show | 15 | 398 | 0.0377 | 9 | c.*86 others(16): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 6/6 | 95 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
EHD3_chr2_31229152_31274451 | 31243460 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0004a0001c0001t0033a0001c0001t0034others(2): Show | a0001c0001t0004g0301a0001c0001t0004g0302a0001c0001t0004g0304others(5): Show | 8 | 378 | 0.0212 | 9 | c.228 others(24): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31245554 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03041.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0068 | a0001c0001t0003g0202a0001c0001t0007g0207a0001c0001t0068g0233 | 3 | 378 | 0.0079 | 9 | c.404 others(26): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41973311 | T | TTTGTTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0002t0005a0001c0002t0013others(3): Show | a0001c0002t0004g0041a0001c0002t0004g0043a0001c0002t0005g0042others(5): Show | 8 | 360 | 0.0222 | 9 | c.-81 others(18): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 755 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41973314 | T | TTTGTTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0018others(13): Show | 17 | 360 | 0.0472 | 9 | c.-82 others(18): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 758 | chr15 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137763184 | T | TGCCCAGA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(11): Show | a0001c0001t0001g0100a0001c0002t0001g0002a0001c0002t0001g0003others(56): Show | 59 | 170 | 0.3471 | 9 | c.164 others(26): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137796703 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp1 others(56): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(56): Show | 59 | 170 | 0.3471 | 9 | c.250 others(28): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EI24_chr11_125564477_125589684 | 125581077 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01175.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0017a0001c0002t0020 | a0001c0002t0012g0030a0001c0002t0012g0100a0001c0002t0012g0102others(3): Show | 7 | 362 | 0.0193 | 9 | c.674 others(23): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EID2B_chr19_39525987_39537852 | 39529272 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG01070.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0005g0000others(4): Show | 52 | 418 | 0.1244 | 9 | c.*30 others(20): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 1714 | chr19 | TogoVar | ||||||
EID2B_chr19_39525987_39537852 | 39537216 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 9 | 418 | 0.0215 | 9 | c.-44 others(20): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 4365 | chr19 | TogoVar | ||||||
EID2_chr19_39533707_39545161 | 39537216 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02572.hp2 others(4): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0000a0008c0007t0001g0000 | 7 | 420 | 0.0167 | 9 | c.*21 others(20): Show |
EID2 | ENSG00000176396.11 | transcript | ENST00000390658.4 | protein_coding | 1490 | chr19 | TogoVar | ||||||
EIF1_chr17_41683885_41697668 | 41697162 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG02145.hp2 HG03704.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001a0001c0001t0003g0002 | 7 | 330 | 0.0212 | 9 | c.*63 others(20): Show |
EIF1 | ENSG00000173812.11 | transcript | ENST00000469257.2 | protein_coding | 4495 | chr17 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37153337 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0174a0001c0001t0001g0177a0001c0001t0001g0191others(107): Show | 113 | 326 | 0.3466 | 9 | c.-18 others(28): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 1/16 | chr2 | TogoVar | ||||||
EIF2AK4_chr15_39929115_40040591 | 39944432 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG02015.hp2 others(19): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0005a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0112a0001c0001t0001g0155a0001c0001t0002g0157others(19): Show | 22 | 368 | 0.0598 | 9 | c.360 others(24): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
EIF2B3_chr1_44845522_44991595 | 44877192 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0278a0001c0002t0001g0233a0001c0002t0001g0234others(10): Show | 13 | 322 | 0.0404 | 9 | c.976 others(26): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44922836 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01261.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0266a0001c0001t0001g0269a0001c0001t0001g0270others(17): Show | 20 | 322 | 0.0621 | 9 | c.566 others(26): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44962204 | A | ACATCATC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0132a0001c0001t0001g0251a0001c0001t0001g0291others(22): Show | 25 | 322 | 0.0776 | 9 | c.294 others(28): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44984797 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0316a0001c0001t0001g0317a0001c0001t0002g0006others(13): Show | 16 | 322 | 0.0497 | 9 | c.-10 others(26): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
EIF2S1_chr14_67355328_67391516 | 67379654 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00673.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0043others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0028others(25): Show | 38 | 368 | 0.1033 | 9 | c.474 others(24): Show |
EIF2S1 | ENSG00000134001.15 | transcript | ENST00000256383.11 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EIF2S3_chrX_24049956_24083810 | 24079401 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0018a0001c0001t0034others(1): Show | a0001c0001t0014g0199a0001c0001t0014g0201a0001c0001t0018g0206others(2): Show | 5 | 294 | 0.0170 | 9 | c.*26 others(20): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 592 | chrX | TogoVar | ||||||
EIF2S3_chrX_24049956_24083810 | 24081938 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0202 | 1 | 294 | 0.0034 | 9 | c.*51 others(20): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 3129 | chrX | TogoVar | ||||||
EIF2S3_chrX_24049956_24083810 | 24083048 | C | CCACCACC others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0162 | 3 | 294 | 0.0102 | 9 | c.*62 others(20): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 4239 | chrX | TogoVar | ||||||
EIF3E_chr8_108196216_108253717 | 108252648 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0004g0047a0001c0001t0004g0093a0001c0001t0004g0098others(31): Show | 34 | 348 | 0.0977 | 9 | c.-39 others(20): Show |
EIF3E | ENSG00000104408.11 | transcript | ENST00000220849.10 | protein_coding | 3932 | chr8 | TogoVar | ||||||
EIF3G_chr19_10110014_10124899 | 10122524 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01255.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0049others(6): Show | 24 | 458 | 0.0524 | 9 | c.-26 others(20): Show |
EIF3G | ENSG00000130811.12 | transcript | ENST00000253108.9 | protein_coding | 2626 | chr19 | TogoVar | ||||||
EIF3H_chr8_116637130_116760823 | 116638952 | A | AAATAGGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(261): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0081others(260): Show | 264 | 336 | 0.7857 | 9 | c.*60 others(20): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 3177 | chr8 | TogoVar | ||||||
EIF3H_chr8_116637130_116760823 | 116640915 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00609.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0002g0250a0001c0001t0002g0251a0001c0001t0002g0252others(57): Show | 60 | 336 | 0.1786 | 9 | c.*40 others(20): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 1214 | chr8 | TogoVar | ||||||
EIF3L_chr22_37844419_37894407 | 37859374 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0016others(50): Show | 57 | 318 | 0.1793 | 9 | c.435 others(24): Show |
EIF3L | ENSG00000100129.18 | transcript | ENST00000652021.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EIF3M_chr11_32578831_32611264 | 32584607 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00673.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0023a0001c0001t0001g0105others(15): Show | 32 | 344 | 0.0930 | 9 | c.42+ others(22): Show |
EIF3M | ENSG00000149100.13 | transcript | ENST00000531120.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EIF4E2_chr2_232545689_232574210 | 232559824 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01516.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0036a0001c0001t0001g0071others(8): Show | 22 | 422 | 0.0521 | 9 | c.270 others(26): Show |
EIF4E2 | ENSG00000135930.15 | transcript | ENST00000258416.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EIF4EBP1_chr8_38025534_38065365 | 38040866 | C | CTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009a0001c0001t0003g0048a0001c0001t0003g0223others(1): Show | 6 | 344 | 0.0174 | 9 | c.145 others(28): Show |
EIF4EBP1 | ENSG00000187840.5 | transcript | ENST00000338825.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EIF4ENIF1_chr22_31434367_31494842 | 31443419 | T | TCTGCAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01346.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0117a0001c0001t0001g0118others(21): Show | 24 | 366 | 0.0656 | 9 | c.207 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 15/18 | chr22 | TogoVar | ||||||
EIF4ENIF1_chr22_31434367_31494842 | 31443419 | T | TCTGCGAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(316): Show | 321 | 366 | 0.8771 | 9 | c.207 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 15/18 | chr22 | TogoVar | ||||||
EIF4ENIF1_chr22_31434367_31494842 | 31446285 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00609.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0264a0001c0002t0001g0001others(55): Show | 59 | 366 | 0.1612 | 9 | c.198 others(28): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 14/18 | chr22 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20868090 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01071.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0114a0001c0001t0001g0136a0001c0001t0001g0143others(27): Show | 30 | 312 | 0.0962 | 9 | c.262 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 20/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20986744 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02922.hp2 HG03225.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0179a0001c0001t0003g0245a0001c0001t0003g0246others(6): Show | 9 | 312 | 0.0289 | 9 | c.178 others(26): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21007515 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02015.hp2 HG02602.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0140others(11): Show | 14 | 312 | 0.0449 | 9 | c.-66 others(26): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 4/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21094765 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG01928.hp2 others(25): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0136a0001c0001t0001g0139others(25): Show | 28 | 312 | 0.0897 | 9 | c.-27 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21152339 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01243.hp1 others(42): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0123a0001c0001t0001g0132others(42): Show | 45 | 312 | 0.1442 | 9 | c.-27 others(30): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21176231 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02965.hp1 NA18965.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0012 | a0001c0001t0012g0297a0001c0001t0012g0298a0001c0002t0012g0296 | 3 | 312 | 0.0096 | 9 | c.-33 others(18): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/37 | 173490 | chr1 | TogoVar | |||||
EIF4H_chr7_74169356_74202096 | 74201908 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01175.hp1 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0070a0001c0001t0001g0076others(3): Show | 6 | 374 | 0.0160 | 9 | c.*66 others(20): Show |
EIF4H | ENSG00000106682.16 | transcript | ENST00000265753.13 | protein_coding | 4813 | chr7 | TogoVar | ||||||
EIF5AL1_chr10_79507533_79521440 | 79512538 | A | AGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(67): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0002c0002t0004a0002c0002t0013others(5): Show | a0002c0002t0003g0000a0002c0002t0004g0000a0002c0002t0013g0000others(5): Show | 70 | 430 | 0.1628 | 9 | c.-94 others(16): Show |
EIF5AL1 | ENSG00000253626.4 | transcript | ENST00000520547.4 | protein_coding | 1/1 | 85 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
EIF5B_chr2_99332389_99406326 | 99353005 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00738.hp2 others(18): Show |
a0002 | a0002c0001a0002c0007 | a0002c0001t0002a0002c0001t0005a0002c0007t0005 | a0002c0001t0002g0191a0002c0001t0002g0253a0002c0001t0002g0254others(18): Show | 21 | 342 | 0.0614 | 9 | c.36- others(24): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EIF5_chr14_103329237_103350025 | 103331309 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01433.hp2 HG01943.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0002a0001c0001t0002g0034a0001c0001t0012g0006others(5): Show | 11 | 438 | 0.0251 | 9 | c.-33 others(20): Show |
EIF5 | ENSG00000100664.11 | transcript | ENST00000216554.8 | protein_coding | 2927 | chr14 | TogoVar | ||||||
EIF5_chr14_103329237_103350025 | 103332905 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01981.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0026others(2): Show | a0001c0001t0003g0003a0001c0001t0003g0029a0001c0001t0003g0044others(5): Show | 13 | 438 | 0.0297 | 9 | c.-17 others(20): Show |
EIF5 | ENSG00000100664.11 | transcript | ENST00000216554.8 | protein_coding | 1331 | chr14 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3199060 | G | GCCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0059a0001c0001t0001g0105others(12): Show | 15 | 250 | 0.0600 | 9 | c.517 others(26): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3341095 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090a0001c0001t0001g0219a0001c0001t0002g0083others(3): Show | 6 | 250 | 0.0240 | 9 | c.127 others(26): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3345948 | A | AACCACCA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03130.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0016a0001c0001t0002g0010a0001c0005t0001g0104 | 3 | 250 | 0.0120 | 9 | c.127 others(26): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 12986673 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01943.hp2 HG03704.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0005a0002c0002t0005g0035a0002c0002t0005g0102 | 8 | 400 | 0.0200 | 9 | c.*61 others(20): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4938 | chr17 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 12988925 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 NA18963.hp1 NA18963.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0030 | a0001c0001t0004g0017a0001c0001t0004g0019a0001c0001t0004g0057others(2): Show | 6 | 400 | 0.0150 | 9 | c.*38 others(20): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 2686 | chr17 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 13009990 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG01258.hp2 others(13): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0005a0002c0002t0025a0002c0007t0017 | a0002c0002t0005g0005a0002c0002t0005g0091a0002c0002t0005g0097others(6): Show | 16 | 400 | 0.0400 | 9 | c.738 others(24): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 8/23 | chr17 | TogoVar |