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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EHMT1_chr9_137614005_137841127 | 137768529 | ATTTTTT | A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0001 | a0001c0006t0001g0147a0001c0006t0001g0148a0001c0006t0001g0154others(6): Show | 9 | 170 | 0.0529 | -6 | c.164 others(25): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137769824 | CTTTCCT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0001a0001c0003t0001g0057a0001c0003t0001g0058others(15): Show | 18 | 170 | 0.1059 | -6 | c.164 others(25): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137780319 | GGCATCA | G | intron_variant | MODIFIER | HG02055.hp2 HG03225.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0105a0001c0003t0001g0130 | 2 | 170 | 0.0118 | -6 | c.227 others(23): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137780448 | GGCATCA | G | intron_variant | MODIFIER | HG02055.hp2 HG03225.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0105a0001c0003t0001g0130 | 2 | 170 | 0.0118 | -6 | c.227 others(23): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137780935 | GGCATCA | G | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp2 HG02630.hp2 others(9): Show |
a0001a0003 | a0001c0005a0001c0016a0001c0018others(2): Show | a0001c0005t0001a0001c0016t0001a0001c0018t0001others(2): Show | a0001c0005t0001g0011a0001c0005t0001g0012a0001c0005t0001g0048others(9): Show | 12 | 170 | 0.0706 | -6 | c.227 others(25): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137781130 | GGCATCA | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp2 others(20): Show |
a0001a0002a0009 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0009t0001others(2): Show | a0001c0002t0001g0108a0001c0003t0001g0001a0001c0003t0001g0057others(20): Show | 23 | 170 | 0.1353 | -6 | c.227 others(25): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137795425 | ACACTCT | A | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp1 NA18906.hp2 |
a0001a0002 | a0001c0004a0002c0010 | a0001c0004t0001a0002c0010t0001 | a0001c0004t0001g0070a0001c0004t0001g0071a0002c0010t0001g0168 | 3 | 170 | 0.0177 | -6 | c.250 others(25): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EI24_chr11_125564477_125589684 | 125581077 | AAATAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01109.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0007others(3): Show | a0001c0002t0001g0011a0001c0002t0001g0029a0001c0002t0001g0093others(17): Show | 25 | 362 | 0.0691 | -6 | c.674 others(20): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EID1_chr15_48873134_48885173 | 48880985 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01109.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0005g0000 | 60 | 434 | 0.1383 | -6 | c.*22 others(17): Show |
EID1 | ENSG00000255302.5 | transcript | ENST00000530028.3 | protein_coding | 813 | chr15 | TogoVar | ||||||
EID2B_chr19_39525987_39537852 | 39528212 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00733.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 38 | 418 | 0.0909 | -6 | c.*40 others(17): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 2774 | chr19 | TogoVar | ||||||
EIF1AX_chrX_20119525_20146838 | 20119722 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013 | a0001c0001t0009g0039a0001c0001t0013g0109 | 2 | 278 | 0.0072 | -6 | c.*85 others(17): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 4802 | chrX | TogoVar | ||||||
EIF1AX_chrX_20119525_20146838 | 20122369 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02630.hp1 HG03942.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0004 | a0001c0001t0007g0090a0001c0002t0004g0034a0001c0002t0004g0036 | 3 | 278 | 0.0108 | -6 | c.*59 others(17): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 2155 | chrX | TogoVar | ||||||
EIF1AX_chrX_20119525_20146838 | 20137994 | GTTTTTT | G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 278 | 0.0036 | -6 | c.100 others(21): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 2/6 | chrX | TogoVar | ||||||
EIF2AK1_chr7_6017247_6064175 | 6052584 | TAAAAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01167.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0155a0001c0002t0001g0176a0001c0002t0001g0177others(21): Show | 25 | 418 | 0.0598 | -6 | c.277 others(23): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37111876 | AAAATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG02258.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0002g0111a0001c0001t0002g0112a0001c0001t0007g0001others(7): Show | 11 | 326 | 0.0337 | -6 | c.137 others(25): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 14/16 | chr2 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37111878 | AATATAT | A | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG01071.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(8): Show | a0001c0001t0002g0189a0001c0001t0010g0193a0001c0001t0019g0247others(12): Show | 15 | 326 | 0.0460 | -6 | c.137 others(25): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 14/16 | chr2 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37126967 | GAAAAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0080others(24): Show | 27 | 326 | 0.0828 | -6 | c.786 others(21): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 10/16 | chr2 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37140879 | TTCTTTC | T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01070.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0013others(14): Show | a0001c0001t0007g0001a0001c0001t0007g0022a0001c0001t0007g0023others(24): Show | 28 | 326 | 0.0859 | -6 | c.389 others(21): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 5/16 | chr2 | TogoVar | ||||||
EIF2AK3_chr2_88551741_88632464 | 88552650 | TTAGAGA | T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02965.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025a0003c0003t0001g0026a0003c0003t0001g0027others(1): Show | 4 | 366 | 0.0109 | -6 | c.*50 others(17): Show |
EIF2AK3 | ENSG00000172071.15 | transcript | ENST00000303236.9 | protein_coding | 4090 | chr2 | TogoVar | ||||||
EIF2AK3_chr2_88551741_88632464 | 88592368 | CATAATT | C | intron_variant | MODIFIER | HG02080.hp2 HG02135.hp2 NA18944.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0042a0003c0003t0001g0043a0003c0003t0001g0082 | 3 | 366 | 0.0082 | -6 | c.767 others(21): Show |
EIF2AK3 | ENSG00000172071.15 | transcript | ENST00000303236.9 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
EIF2AK3_chr2_88551741_88632464 | 88625284 | TACACAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02280.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0015others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0015t0001others(1): Show | a0001c0001t0001g0116a0001c0004t0001g0109a0001c0004t0001g0110others(10): Show | 13 | 366 | 0.0355 | -6 | c.308 others(23): Show |
EIF2AK3 | ENSG00000172071.15 | transcript | ENST00000303236.9 | protein_coding | 1/16 | chr2 | TogoVar | ||||||
EIF2AK4_chr15_39929115_40040591 | 39969356 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00673.hp1 others(51): Show |
a0003a0012 | a0003c0003a0003c0010a0003c0025others(2): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0058a0003c0003t0001g0067a0003c0003t0001g0073others(51): Show | 54 | 368 | 0.1467 | -6 | c.155 others(25): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 9/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
EIF2AK4_chr15_39929115_40040591 | 40017501 | CTATATA | C | intron_variant | MODIFIER | HG00597.hp1 HG01168.hp2 HG01169.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0021a0001c0033others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0002g0013others(9): Show | 12 | 368 | 0.0326 | -6 | c.406 others(23): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
EIF2A_chr3_150541787_150591016 | 150566771 | CACTGTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp1 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0016others(52): Show | 105 | 394 | 0.2665 | -6 | c.476 others(21): Show |
EIF2A | ENSG00000144895.12 | transcript | ENST00000460851.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EIF2A_chr3_150541787_150591016 | 150586377 | GAAAAAA | G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0008others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0022others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0016others(139): Show | 252 | 394 | 0.6396 | -6 | c.*24 others(17): Show |
EIF2A | ENSG00000144895.12 | transcript | ENST00000460851.6 | protein_coding | 362 | chr3 | TogoVar | ||||||
EIF2A_chr3_150541787_150591016 | 150590733 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG02145.hp1 NA18965.hp2 NA18972.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0001 | a0001c0001t0013g0064a0002c0002t0001g0001a0002c0002t0001g0032others(1): Show | 4 | 394 | 0.0102 | -6 | c.*68 others(17): Show |
EIF2A | ENSG00000144895.12 | transcript | ENST00000460851.6 | protein_coding | 4718 | chr3 | TogoVar | ||||||
EIF2A_chr3_150541787_150591016 | 150590739 | GTGTGTA | G | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01261.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0016others(20): Show | 38 | 394 | 0.0965 | -6 | c.*68 others(17): Show |
EIF2A | ENSG00000144895.12 | transcript | ENST00000460851.6 | protein_coding | 4724 | chr3 | TogoVar | ||||||
EIF2A_chr3_150541787_150591016 | 150590741 | GTGTATA | G | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02647.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0025a0001c0001t0002g0130a0001c0001t0003g0188others(4): Show | 7 | 394 | 0.0178 | -6 | c.*68 others(17): Show |
EIF2A | ENSG00000144895.12 | transcript | ENST00000460851.6 | protein_coding | 4726 | chr3 | TogoVar | ||||||
EIF2B1_chr12_123615406_123638686 | 123620580 | TTATATA | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG02015.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0022a0001c0001t0034others(2): Show | a0001c0001t0012g0029a0001c0001t0012g0083a0001c0001t0012g0084others(7): Show | 12 | 322 | 0.0373 | -6 | c.*11 others(17): Show |
EIF2B1 | ENSG00000111361.13 | transcript | ENST00000424014.7 | protein_coding | 9/9 | 1170 | chr12 | TogoVar | |||||
EIF2B1_chr12_123615406_123638686 | 123629002 | CGAGAGG | C | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01975.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(12): Show | a0001c0001t0003g0199a0001c0001t0010g0198a0001c0001t0013g0196others(14): Show | 18 | 322 | 0.0559 | -6 | c.369 others(23): Show |
EIF2B1 | ENSG00000111361.13 | transcript | ENST00000424014.7 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44937883 | CAAAAAA | C | intron_variant | MODIFIER | HG01943.hp1 HG02615.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256a0001c0001t0001g0257a0001c0001t0001g0258others(3): Show | 6 | 322 | 0.0186 | -6 | c.454 others(23): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44943368 | CTATCTA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00609.hp2 others(97): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(97): Show | 100 | 322 | 0.3106 | -6 | c.295 others(23): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44972623 | TACACAC | T | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02055.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0230a0001c0002t0001g0232a0001c0002t0001g0233others(17): Show | 20 | 322 | 0.0621 | -6 | c.294 others(23): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
EIF2B4_chr2_27359352_27375338 | 27366094 | CTGTGTG | C | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0014a0001c0001t0001g0040a0001c0001t0001g0041others(4): Show | 10 | 378 | 0.0265 | -6 | c.119 others(23): Show |
EIF2B4 | ENSG00000115211.17 | transcript | ENST00000347454.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
EIF2B4_chr2_27359352_27375338 | 27366215 | GGTGTGT | G | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01109.hp2 others(38): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0012 | a0001c0001t0001a0001c0003t0001a0003c0012t0001 | a0001c0001t0001g0004a0001c0001t0001g0035a0001c0001t0001g0040others(9): Show | 41 | 378 | 0.1085 | -6 | c.119 others(23): Show |
EIF2B4 | ENSG00000115211.17 | transcript | ENST00000347454.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
EIF2D_chr1_206586642_206617465 | 206612949 | TAAAAAA | T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01257.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0030others(5): Show | 8 | 426 | 0.0188 | -6 | c.-61 others(15): Show |
EIF2D | ENSG00000143486.16 | transcript | ENST00000271764.7 | protein_coding | 485 | chr1 | TogoVar | ||||||
EIF2S1_chr14_67355328_67391516 | 67375232 | CTGTGTG | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0059others(42): Show | 65 | 368 | 0.1766 | -6 | c.321 others(21): Show |
EIF2S1 | ENSG00000134001.15 | transcript | ENST00000256383.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EIF2S2_chr20_34083309_34117243 | 34117083 | CTTAAAG | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0180a0001c0001t0003g0004a0001c0001t0003g0181others(8): Show | 30 | 362 | 0.0829 | -6 | c.-49 others(17): Show |
EIF2S2 | ENSG00000125977.7 | transcript | ENST00000374980.3 | protein_coding | 4841 | chr20 | TogoVar | ||||||
EIF2S3B_chr12_10500890_10513525 | 10504306 | CATATAT | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01993.hp1 others(18): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 21 | 422 | 0.0498 | -6 | c.-15 others(17): Show |
EIF2S3B | ENSG00000180574.4 | transcript | ENST00000538173.2 | protein_coding | 1583 | chr12 | TogoVar | ||||||
EIF2S3B_chr12_10500890_10513525 | 10504456 | GATATAT | G | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03491.hp1 HG03942.hp1 others(2): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0007others(1): Show | a0001c0001t0001g0000a0001c0003t0001g0000a0001c0008t0007g0000others(1): Show | 5 | 422 | 0.0119 | -6 | c.-14 others(17): Show |
EIF2S3B | ENSG00000180574.4 | transcript | ENST00000538173.2 | protein_coding | 1433 | chr12 | TogoVar | ||||||
EIF2S3_chrX_24049956_24083810 | 24076926 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0129 | 1 | 294 | 0.0034 | -6 | c.*15 others(15): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 12/12 | 157 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
EIF3A_chr10_119028670_119085817 | 119066505 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(98): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0147others(96): Show | 101 | 350 | 0.2886 | -6 | c.951 others(21): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 6/21 | chr10 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2356613 | AAAAAAG | A | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02145.hp2 others(5): Show |
a0001a0010 | a0001c0005a0001c0015a0010c0019 | a0001c0005t0001a0001c0015t0002a0010c0019t0001 | a0001c0005t0001g0164a0001c0005t0001g0165a0001c0005t0001g0166others(5): Show | 8 | 384 | 0.0208 | -6 | c.499 others(23): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2369765 | ATTTTTT | A | intron_variant | MODIFIER | HG02809.hp2 HG03516.hp1 NA18969.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0075a0001c0001t0001g0076others(3): Show | 6 | 384 | 0.0156 | -6 | c.161 others(23): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3CL_chr16_28374715_28408841 | 28375362 | TATATAC | T | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02647.hp1 NA18522.hp2 others(1): Show |
a0002a0003 | a0002c0018a0003c0003 | a0002c0018t0001a0003c0003t0002 | a0002c0018t0001g0028a0003c0003t0002g0010a0003c0003t0002g0011others(1): Show | 4 | 172 | 0.0233 | -6 | c.*44 others(17): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 4352 | chr16 | TogoVar | ||||||
EIF3CL_chr16_28374715_28408841 | 28375366 | TACACAC | T | downstream_gene_variant | MODIFIER | HG02723.hp1 NA18955.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0132a0001c0001t0001g0145others(1): Show | 4 | 172 | 0.0233 | -6 | c.*44 others(17): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 4348 | chr16 | TogoVar | ||||||
EIF3CL_chr16_28374715_28408841 | 28393373 | AAACAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0001a0001c0006t0001a0004c0004t0001 | a0001c0001t0001g0100a0001c0001t0001g0132a0001c0001t0001g0133others(14): Show | 17 | 172 | 0.0988 | -6 | c.777 others(23): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 8/20 | chr16 | TogoVar | ||||||
EIF3CL_chr16_28374715_28408841 | 28408204 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01106.hp1 others(5): Show |
a0001a0003a0006 | a0001c0001a0001c0006a0001c0012others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0012t0002others(2): Show | a0001c0001t0001g0123a0001c0001t0001g0125a0001c0006t0001g0142others(5): Show | 8 | 172 | 0.0465 | -6 | c.-44 others(17): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 4364 | chr16 | TogoVar | ||||||
EIF3C_chr16_28706464_28740596 | 28721900 | TTTGTTG | T | intron_variant | MODIFIER | HG02683.hp1 NA18946.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0039a0001c0002t0001g0043 | 2 | 100 | 0.0200 | -6 | c.777 others(23): Show |
EIF3C | ENSG00000184110.15 | transcript | ENST00000331666.11 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EIF3C_chr16_28706464_28740596 | 28739878 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01123.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0004 | a0001c0001t0001a0001c0006t0001a0003c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(25): Show | 29 | 100 | 0.2900 | -6 | c.*43 others(17): Show |
EIF3C | ENSG00000184110.15 | transcript | ENST00000331666.11 | protein_coding | 4283 | chr16 | TogoVar |