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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFR3B_chr2_25037076_25164135 | 25124277 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(3): Show | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0189others(21): Show | 24 | 306 | 0.0784 | -16 | c.485 others(33): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25128960 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01081.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0130a0001c0002t0001g0047 | 2 | 306 | 0.0065 | -16 | c.635 others(31): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13575111 | AAAACAAA others(9): Show |
A | intron_variant | MODIFIER | HG02293.hp1 HG02451.hp1 HG02486.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0038a0001c0001t0003g0043a0001c0001t0005g0044others(10): Show | 13 | 302 | 0.0431 | -16 | c.74+ others(31): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13577296 | TTTTATAT others(9): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG06807.hp2 |
a0002a0004 | a0002c0003a0004c0021 | a0002c0003t0004a0002c0003t0006a0004c0021t0001 | a0002c0003t0004g0052a0002c0003t0006g0037a0004c0021t0001g0041 | 3 | 302 | 0.0099 | -16 | c.74+ others(31): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL7_chr9_136657916_136677678 | 136674462 | AGCTGTGT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | -16 | c.*21 others(27): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 1785 | chr9 | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38329292 | GATAAATA others(9): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00735.hp1 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0050a0001c0001t0001g0051others(25): Show | 28 | 190 | 0.1474 | -16 | c.98- others(31): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55083032 | TCTCCTTA others(9): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0012 | a0001c0012t0016 | a0001c0012t0016g0218 | 1 | 250 | 0.0040 | -16 | c.89- others(33): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55176816 | TGATATAT others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0023a0001c0001t0028others(62): Show | a0001c0001t0001g0081a0001c0001t0001g0104a0001c0001t0023g0114others(103): Show | 106 | 250 | 0.4240 | -16 | c.228 others(35): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55203481 | TACATACA others(9): Show |
T | intron_variant | MODIFIER | HG03139.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0170a0001c0003t0001g0241 | 2 | 250 | 0.0080 | -16 | c.327 others(33): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109919287 | GTCTCTCT others(9): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01975.hp2 HG02080.hp2 others(8): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0007a0003c0003t0005a0003c0003t0008others(3): Show | a0001c0001t0007g0317a0003c0003t0005g0050a0003c0003t0008g0049others(8): Show | 11 | 388 | 0.0284 | -16 | c.127 others(33): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109927806 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0299 | 1 | 388 | 0.0026 | -16 | c.128 others(35): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGLN1_chr1_231358756_231427287 | 231359053 | ATTATATA others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0112 | 1 | 338 | 0.0030 | -16 | c.*73 others(27): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4702 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231359054 | TTATATAT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG01943.hp1 HG01993.hp2 HG02148.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0198a0001c0001t0001g0237a0001c0001t0002g0006others(6): Show | 10 | 338 | 0.0296 | -16 | c.*73 others(27): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4701 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231359095 | TATATATA others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0007 | a0001c0001t0011g0304a0002c0002t0007g0044 | 2 | 338 | 0.0059 | -16 | c.*73 others(27): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4660 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231373669 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(141): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(138): Show | 144 | 338 | 0.4260 | -16 | c.101 others(33): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231412011 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG02257.hp2 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0001a0002c0002t0002 | a0001c0001t0010g0149a0001c0001t0010g0300a0001c0001t0010g0301others(2): Show | 5 | 338 | 0.0148 | -16 | c.891 others(33): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62830153 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG03139.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0065 | 2 | 198 | 0.0101 | -16 | c.495 others(31): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62889047 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 198 | 0.0051 | -16 | c.118 others(37): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63019830 | GGGAAGGA others(9): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01496.hp2 HG02109.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0063a0001c0001t0001g0067a0002c0002t0001g0013others(1): Show | 4 | 198 | 0.0202 | -16 | c.310 others(37): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47715038 | CAAATAAA others(9): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025a0001c0002t0003g0279 | 2 | 398 | 0.0050 | -16 | c.-55 others(33): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47722009 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0035 | 1 | 398 | 0.0025 | -16 | c.502 others(33): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47724981 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02717.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0338a0001c0002t0002g0168a0001c0002t0002g0320others(10): Show | 14 | 398 | 0.0352 | -16 | c.503 others(31): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31245547 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0232 | 1 | 378 | 0.0027 | -16 | c.404 others(33): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31273953 | TACACACA others(9): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp1 HG01981.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0043others(2): Show | a0001c0001t0001g0018a0001c0001t0017g0047a0001c0001t0017g0071others(5): Show | 8 | 378 | 0.0212 | -16 | c.*72 others(27): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 4503 | chr2 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41917096 | CTTATTTA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(16): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0013a0001c0002t0038others(5): Show | a0001c0002t0001g0271a0001c0002t0013g0038a0001c0002t0013g0040others(15): Show | 19 | 360 | 0.0528 | -16 | c.924 others(33): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41949016 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0043 | 1 | 360 | 0.0028 | -16 | c.413 others(33): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
EHF_chr11_34616093_34668288 | 34618593 | CATCTATC others(9): Show |
C | upstream_gene_variant | MODIFIER | NA18988.hp2 NA19055.hp2 NA19084.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0004a0002c0005t0005 | a0001c0002t0004g0233a0002c0005t0005g0242a0002c0005t0005g0243 | 3 | 410 | 0.0073 | -16 | c.-26 others(27): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2499 | chr11 | TogoVar | ||||||
EHF_chr11_34616093_34668288 | 34643347 | TCTGAATC others(9): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG02735.hp1 HG04199.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0283a0001c0001t0001g0303a0001c0001t0003g0026others(14): Show | 19 | 410 | 0.0463 | -16 | c.97+ others(29): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EHF_chr11_34616093_34668288 | 34653140 | ACATCCTT others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(270): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0116others(252): Show | 273 | 410 | 0.6659 | -16 | c.544 others(33): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137768529 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067a0001c0003t0001g0105a0001c0003t0001g0121others(1): Show | 4 | 170 | 0.0235 | -16 | c.164 others(35): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137807478 | CTTATTTA others(9): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 170 | 0.0059 | -16 | c.271 others(35): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137814055 | GGCCCCCC others(9): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp2 HG01943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0098others(5): Show | 8 | 170 | 0.0471 | -16 | c.318 others(33): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EID1_chr15_48873134_48885173 | 48880895 | TTAATCTC others(9): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 434 | 0.0023 | -16 | c.*21 others(27): Show |
EID1 | ENSG00000255302.5 | transcript | ENST00000530028.3 | protein_coding | 723 | chr15 | TogoVar | ||||||
EID1_chr15_48873134_48885173 | 48880985 | AGTGTGTG others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02257.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 10 | 434 | 0.0230 | -16 | c.*22 others(27): Show |
EID1 | ENSG00000255302.5 | transcript | ENST00000530028.3 | protein_coding | 813 | chr15 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37145742 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0001t0016a0001c0001t0058others(2): Show | a0001c0001t0013g0308a0001c0001t0016g0066a0001c0001t0058g0057others(2): Show | 5 | 326 | 0.0153 | -16 | c.240 others(33): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37161236 | AAGAAAGA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01074.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0175a0001c0001t0001g0183a0001c0001t0001g0233others(13): Show | 16 | 326 | 0.0491 | -16 | c.-45 others(27): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4257 | chr2 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37161253 | AAAAGAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01099.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0040a0001c0001t0001g0049a0001c0001t0001g0050others(20): Show | 23 | 326 | 0.0706 | -16 | c.-45 others(27): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4274 | chr2 | TogoVar | ||||||
EIF2AK3_chr2_88551741_88632464 | 88625284 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02165.hp2 NA18747.hp2 NA18965.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0099a0001c0001t0001g0100a0002c0002t0001g0015others(1): Show | 5 | 366 | 0.0137 | -16 | c.308 others(33): Show |
EIF2AK3 | ENSG00000172071.15 | transcript | ENST00000303236.9 | protein_coding | 1/16 | chr2 | TogoVar | ||||||
EIF2AK4_chr15_39929115_40040591 | 39993091 | TCCATCCA others(9): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02896.hp2 |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0005 | a0002c0004t0003g0036a0002c0004t0003g0038a0002c0004t0005g0037 | 3 | 368 | 0.0082 | -16 | c.276 others(33): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 18/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
EIF2AK4_chr15_39929115_40040591 | 40017501 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02572.hp2 HG02647.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0010others(1): Show | a0001c0001t0005a0002c0002t0010a0003c0010t0001others(1): Show | a0001c0001t0005g0023a0001c0001t0005g0029a0001c0001t0005g0031others(3): Show | 6 | 368 | 0.0163 | -16 | c.406 others(33): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
EIF2B1_chr12_123615406_123638686 | 123620580 | TTATATAT others(9): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02293.hp1 NA18960.hp2 NA19012.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0057 | a0001c0001t0020g0013a0001c0001t0057g0036 | 4 | 322 | 0.0124 | -16 | c.*11 others(27): Show |
EIF2B1 | ENSG00000111361.13 | transcript | ENST00000424014.7 | protein_coding | 9/9 | 1160 | chr12 | TogoVar | |||||
EIF2B3_chr1_44845522_44991595 | 44862525 | TAGGTAGG others(9): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 322 | 0.0031 | -16 | c.120 others(35): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44917755 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0160others(2): Show | 5 | 322 | 0.0155 | -16 | c.566 others(33): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44942377 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 322 | 0.0031 | -16 | c.295 others(31): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44978621 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00735.hp1 others(65): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0255a0001c0001t0001g0256a0001c0001t0001g0257others(65): Show | 68 | 322 | 0.2112 | -16 | c.149 others(31): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
EIF2B4_chr2_27359352_27375338 | 27366215 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01496.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0088 | 3 | 378 | 0.0079 | -16 | c.119 others(33): Show |
EIF2B4 | ENSG00000115211.17 | transcript | ENST00000347454.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
EIF2S3B_chr12_10500890_10513525 | 10504306 | CATATATA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp2 HG02976.hp2 NA19043.hp1 |
a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0000 | 3 | 422 | 0.0071 | -16 | c.-15 others(27): Show |
EIF2S3B | ENSG00000180574.4 | transcript | ENST00000538173.2 | protein_coding | 1583 | chr12 | TogoVar | ||||||
EIF2S3B_chr12_10500890_10513525 | 10504456 | GATATATA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01074.hp1 others(16): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0002a0007c0009t0002 | a0001c0001t0002g0000a0007c0009t0002g0000 | 19 | 422 | 0.0450 | -16 | c.-14 others(27): Show |
EIF2S3B | ENSG00000180574.4 | transcript | ENST00000538173.2 | protein_coding | 1433 | chr12 | TogoVar | ||||||
EIF2S3_chrX_24049956_24083810 | 24050095 | GGCAGGCA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 294 | 0.0034 | -16 | c.-48 others(27): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 4860 | chrX | TogoVar | ||||||
EIF3A_chr10_119028670_119085817 | 119066505 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG03486.hp2 NA18940.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0002c0003t0006a0002c0003t0011 | a0001c0002t0005g0318a0002c0003t0006g0327a0002c0003t0006g0331others(7): Show | 10 | 350 | 0.0286 | -16 | c.951 others(31): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 6/21 | chr10 | TogoVar |