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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYRK4_chr12_4557208_4618875 | 4575322 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 414 | 0.0024 | 23 | c.132 others(40): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468851 | A | AATTATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0074 | 2 | 366 | 0.0055 | 23 | c.-29 others(34): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2691 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 366 | 0.0027 | 23 | c.-29 others(34): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 NA18960.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0044 | 3 | 366 | 0.0082 | 23 | c.-29 others(34): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0159 | 2 | 366 | 0.0055 | 23 | c.-29 others(34): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAT others(16): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 366 | 0.0027 | 23 | c.-29 others(34): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25911066 | G | GCTCAGGG others(16): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19065.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0191a0001c0002t0001g0089 | 2 | 220 | 0.0091 | 23 | c.552 others(40): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129917651 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03130.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0041 | a0001c0001t0001g0257a0001c0001t0019g0111a0001c0001t0041g0075 | 3 | 338 | 0.0089 | 23 | c.554 others(42): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4236518 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0182 | 2 | 438 | 0.0046 | 23 | c.538 others(38): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ECM2_chr9_92490315_92540990 | 92532015 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03831.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0052a0003c0004t0002g0057 | 2 | 400 | 0.0050 | 23 | c.-28 others(40): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106071322 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 434 | 0.0023 | 23 | c.80- others(36): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138864002 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0016 | a0016c0027 | a0016c0027t0001 | a0016c0027t0001g0005 | 1 | 326 | 0.0031 | 23 | c.129 others(40): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138907313 | A | AAGTGTGT others(16): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0320 | 1 | 326 | 0.0031 | 23 | c.*46 others(34): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 3244 | chr6 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405874 | C | CTTCCTTC others(16): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0078 | 1 | 294 | 0.0034 | 23 | c.62- others(38): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236405877 | C | CCTTCTTT others(16): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0149 | 1 | 294 | 0.0034 | 23 | c.62- others(38): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69888978 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 226 | 0.0044 | 23 | c.397 others(42): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDEM3_chr1_184685237_184759858 | 184720509 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0085a0001c0003t0009g0089 | 2 | 324 | 0.0062 | 23 | c.951 others(38): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 9/19 | chr1 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84252493 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02071.hp1 HG03669.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0088a0001c0001t0001g0097others(6): Show | 9 | 158 | 0.0570 | 23 | c.196 others(40): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0069a0001c0001t0002g0127a0001c0002t0001g0066 | 3 | 158 | 0.0190 | 23 | c.68- others(38): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDN3_chr20_59295611_59330992 | 59306595 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 398 | 0.0025 | 23 | c.365 others(40): Show |
EDN3 | ENSG00000124205.18 | transcript | ENST00000337938.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63490068 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0071 | 1 | 374 | 0.0027 | 23 | c.102 others(40): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 6/7 | chr20 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 358 | 0.0028 | 23 | c.400 others(40): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 358 | 0.0028 | 23 | c.291 others(38): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22226517 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01891.hp2 HG02559.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0002a0003c0004t0005g0005a0003c0004t0005g0006others(1): Show | 5 | 290 | 0.0172 | 23 | c.246 others(38): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128150907 | A | AATATTCT others(16): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 272 | 0.0037 | 23 | c.-26 others(34): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2573 | chr3 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36151852 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0092a0001c0001t0001g0144a0001c0001t0001g0150others(10): Show | 13 | 346 | 0.0376 | 23 | c.-20 others(34): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 1401 | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36249015 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0028a0002c0003t0060 | a0002c0003t0028g0007a0002c0003t0028g0011a0002c0003t0060g0103 | 3 | 346 | 0.0087 | 23 | c.930 others(41): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 428 | 0.0023 | 23 | c.107 others(38): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89929031 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03453.hp1 |
a0001 | a0001c0009 | a0001c0009t0001a0001c0009t0014 | a0001c0009t0001g0269a0001c0009t0014g0270 | 2 | 284 | 0.0070 | 23 | c.410 others(40): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47424874 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01891.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0003others(2): Show | a0001c0001t0001g0137a0001c0001t0001g0155a0001c0006t0001g0093others(5): Show | 8 | 356 | 0.0225 | 23 | c.249 others(42): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244970641 | G | GCCCCGCC others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(29): Show | 32 | 290 | 0.1103 | 23 | c.25+ others(36): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244970646 | G | GCCCCGCC others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | 290 | 0.0069 | 23 | c.25+ others(36): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244970690 | C | CCGCCCCG others(16): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 290 | 0.0035 | 23 | c.25+ others(36): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32875502 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02257.hp2 |
a0004a0025 | a0004c0004a0025c0025 | a0004c0004t0003a0025c0025t0001 | a0004c0004t0003g0085a0025c0025t0001g0193 | 2 | 284 | 0.0070 | 23 | c.209 others(38): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32939203 | C | CTTTCTTT others(16): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0005 | a0005c0034 | a0005c0034t0002 | a0005c0034t0002g0031 | 1 | 284 | 0.0035 | 23 | c.279 others(42): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | chr20 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19892883 | A | AAATAAAA others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01123.hp1 others(13): Show |
a0002a0007a0014 | a0002c0003a0002c0009a0002c0010others(2): Show | a0002c0003t0001a0002c0009t0002a0002c0010t0001others(2): Show | a0002c0003t0001g0043a0002c0003t0001g0046a0002c0003t0001g0054others(12): Show | 16 | 344 | 0.0465 | 23 | c.172 others(42): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 9/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908613 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0285 | 1 | 344 | 0.0029 | 23 | c.128 others(42): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52493385 | T | TATATATA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0006 | a0006c0006 | a0006c0006t0072 | a0006c0006t0072g0194 | 1 | 396 | 0.0025 | 23 | c.*10 others(34): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 1045 | chr6 | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44310247 | A | AGGGTTTC others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(47): Show | 50 | 221 | 0.2262 | 23 | c.231 others(40): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFNA3_chr1_155073837_155092538 | 155083320 | C | CCCCTGGC others(16): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 334 | 0.0030 | 23 | c.129 others(40): Show |
EFNA3 | ENSG00000143590.14 | transcript | ENST00000368408.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107591959 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 190 | 0.0053 | 23 | c.125 others(42): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNB3_chr17_7700202_7716372 | 7714166 | T | TGTGTGTG others(16): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 23 | c.*45 others(34): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2795 | chr17 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0011a0001c0003t0003a0002c0002t0001others(2): Show | a0001c0001t0011g0220a0001c0001t0011g0221a0001c0001t0011g0223others(34): Show | 37 | 412 | 0.0898 | 23 | c.*72 others(34): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25046506 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18990.hp2 NA18999.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0041others(1): Show | a0001c0001t0003g0095a0001c0001t0008g0098a0001c0001t0041g0096others(1): Show | 4 | 306 | 0.0131 | 23 | c.7+4 others(36): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25080283 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03579.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0003t0006 | a0001c0001t0001g0155a0001c0001t0015g0158a0001c0003t0006g0147others(1): Show | 4 | 306 | 0.0131 | 23 | c.8-1 others(38): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFTUD2_chr17_44844948_44904445 | 44890214 | T | TTCATCAC others(16): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 370 | 0.0027 | 23 | c.106 others(40): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 2/27 | chr17 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55196178 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0184 | 1 | 250 | 0.0040 | 23 | c.270 others(42): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109932377 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19063.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0004a0001c0019t0017 | a0001c0001t0004g0341a0001c0019t0017g0140 | 2 | 388 | 0.0052 | 23 | c.128 others(40): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | chr4 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 348 | 0.0029 | 23 | c.463 others(40): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0191 | 1 | 348 | 0.0029 | 23 | c.463 others(40): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar |