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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0222 | 1 | 318 | 0.0031 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 318 | 0.0031 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG03654.hp2 HG03704.hp1 |
a0001 | a0001c0013a0001c0015 | a0001c0013t0001a0001c0015t0001 | a0001c0013t0001g0264a0001c0015t0001g0256 | 2 | 318 | 0.0063 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG03239.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0080 | 2 | 318 | 0.0063 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 318 | 0.0031 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03834.hp1 NA18957.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0001g0048a0001c0001t0001g0049others(3): Show | 6 | 318 | 0.0189 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 318 | 0.0031 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0062 | 2 | 318 | 0.0063 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | NA19064.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0053 | 2 | 318 | 0.0063 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACTC others(21): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 318 | 0.0031 | 28 | c.696 others(45): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
E2F6_chr2_11439375_11471161 | 11466855 | G | GCCTGCCT others(21): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179a0001c0001t0003g0180a0001c0001t0003g0183 | 3 | 366 | 0.0082 | 28 | c.-97 others(37): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 695 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11466855 | G | GCCTGCCT others(21): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0034a0001c0001t0003g0093 | 4 | 366 | 0.0109 | 28 | c.-97 others(37): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 695 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468851 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 366 | 0.0027 | 28 | c.-29 others(39): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2691 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 366 | 0.0027 | 28 | c.-29 others(39): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 366 | 0.0027 | 28 | c.-29 others(39): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 366 | 0.0027 | 28 | c.-29 others(39): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158883318 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01981.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0003a0001c0002t0006 | a0001c0001t0027g0104a0001c0002t0003g0108a0001c0002t0006g0022 | 3 | 196 | 0.0153 | 28 | c.555 others(47): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158883344 | G | GCATGTAT others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 196 | 0.0051 | 28 | c.555 others(47): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159087345 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0041 | 1 | 196 | 0.0051 | 28 | c.412 others(45): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 4/15 | chr5 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129917651 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02970.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0012 | a0001c0001t0002g0050a0001c0001t0011g0189a0001c0001t0012g0021 | 3 | 338 | 0.0089 | 28 | c.554 others(47): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21217709 | C | CTCTATGT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0115 | 1 | 304 | 0.0033 | 28 | c.*22 others(39): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 19/19 | 2245 | chr1 | TogoVar | |||||
ECPAS_chr9_111355685_111489383 | 111468689 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03239.hp2 HG03834.hp2 others(8): Show |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0001a0002c0003t0003a0003c0005t0002 | a0002c0003t0001g0265a0002c0003t0001g0266a0002c0003t0001g0281others(8): Show | 11 | 354 | 0.0311 | 28 | c.22+ others(43): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ECT2_chr3_172745726_172826474 | 172797018 | C | CAGATTCA others(21): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 | 1 | 318 | 0.0031 | 28 | c.190 others(47): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 18/24 | chr3 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405862 | C | CTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 294 | 0.0034 | 28 | c.62- others(43): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236405874 | C | CTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02080.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0126 | 3 | 294 | 0.0102 | 28 | c.62- others(43): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236405874 | C | CTTCCTTC others(21): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0026 | 1 | 294 | 0.0034 | 28 | c.62- others(43): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236405874 | C | CTTCCTTC others(21): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 294 | 0.0034 | 28 | c.62- others(43): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236405874 | C | CTTCCTTC others(21): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0056a0001c0001t0022g0057 | 2 | 294 | 0.0068 | 28 | c.62- others(43): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236405874 | C | CTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02132.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0005 | a0001c0003t0001g0012a0001c0005t0005g0033 | 2 | 294 | 0.0068 | 28 | c.62- others(43): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69655762 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01934.hp1 HG02080.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0102a0001c0001t0001g0146a0001c0001t0001g0162others(7): Show | 10 | 226 | 0.0443 | 28 | c.396 others(47): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69888978 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02015.hp1 HG04228.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0143 | 3 | 226 | 0.0133 | 28 | c.397 others(47): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDC3_chr15_74625558_74701024 | 74668729 | T | TGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01257.hp1 others(37): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0142a0001c0001t0001g0148others(36): Show | 40 | 286 | 0.1399 | 28 | c.484 others(45): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | ||||||
EDC3_chr15_74625558_74701024 | 74668729 | T | TGAATGAA others(21): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0267 | 1 | 286 | 0.0035 | 28 | c.484 others(45): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56302484 | C | CCATCCTT others(21): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 | 1 | 396 | 0.0025 | 28 | c.423 others(43): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDDM13_chr19_56267748_56315454 | 56302545 | G | GTTCCTCC others(21): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01978.hp1 HG02040.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0060others(29): Show | 34 | 396 | 0.0859 | 28 | c.423 others(43): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDDM13_chr19_56267748_56315454 | 56302545 | G | GTTCCTCC others(21): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 396 | 0.0025 | 28 | c.423 others(43): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDIL3_chr5_83935554_84389880 | 83987865 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0032a0001c0002t0005g0033 | 2 | 158 | 0.0127 | 28 | c.113 others(49): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84252493 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 158 | 0.0063 | 28 | c.196 others(45): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02523.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0133a0001c0002t0004g0062 | 2 | 158 | 0.0127 | 28 | c.68- others(43): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0317 | 1 | 358 | 0.0028 | 28 | c.400 others(45): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769248 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0156 | 1 | 358 | 0.0028 | 28 | c.400 others(45): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01069.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0112others(24): Show | 27 | 358 | 0.0754 | 28 | c.291 others(43): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | T | TTTTATAT others(21): Show |
intron_variant | MODIFIER | HG02723.hp2 NA18522.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0311a0001c0001t0004g0312a0001c0001t0004g0313 | 3 | 358 | 0.0084 | 28 | c.291 others(43): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
EEF1B2_chr2_206154895_206167928 | 206163433 | C | CAACGGTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 360 | 0.0028 | 28 | c.*55 others(37): Show |
EEF1B2 | ENSG00000114942.15 | transcript | ENST00000392222.7 | protein_coding | 506 | chr2 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 442 | 0.0023 | 28 | c.87+ others(43): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCGCCCCC others(21): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02165.hp1 NA18946.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0159a0001c0001t0001g0170others(6): Show | 9 | 272 | 0.0331 | 28 | c.-51 others(37): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128153002 | G | GCCCCCGT others(21): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01192.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0221a0001c0001t0001g0228others(7): Show | 10 | 272 | 0.0368 | 28 | c.-50 others(37): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 478 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128330922 | C | CTTCCTCA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02559.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0037a0001c0003t0001g0203a0001c0003t0001g0206 | 3 | 272 | 0.0110 | 28 | c.787 others(47): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128348277 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18995.hp1 NA19055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0081others(1): Show | 4 | 272 | 0.0147 | 28 | c.144 others(47): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG1_chr9_127935582_127985989 | 127985663 | T | TTATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0002t0006 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0020others(21): Show | 28 | 342 | 0.0819 | 28 | c.-55 others(39): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 4675 | chr9 | TogoVar |