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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSE1_chr16_85608322_85681200 | 85671439 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02056.hp2 |
a0001a0030 | a0001c0001a0030c0053 | a0001c0001t0002a0030c0053t0001 | a0001c0001t0002g0131a0030c0053t0001g0047 | 2 | 290 | 0.0069 | 13 | c.351 others(30): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSG1L_chr16_27782528_28068714 | 27874441 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0224 | 1 | 240 | 0.0042 | 13 | c.550 others(32): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27911280 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01081.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0084a0001c0002t0001g0203a0001c0002t0002g0137others(1): Show | 4 | 240 | 0.0167 | 13 | c.398 others(32): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27946549 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 240 | 0.0042 | 13 | c.397 others(32): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27946579 | A | AAGAAAGA others(6): Show |
intron_variant | MODIFIER | HG02165.hp1 HG04184.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0033a0001c0002t0001 | a0001c0001t0017g0121a0001c0001t0033g0154a0001c0002t0001g0194 | 3 | 240 | 0.0125 | 13 | c.397 others(32): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27947384 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 240 | 0.0042 | 13 | c.397 others(32): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27947384 | A | AAGAAGAA others(6): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 240 | 0.0042 | 13 | c.397 others(32): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27979687 | G | GAAGGAAG others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03492.hp1 NA19064.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0080a0001c0001t0001g0089a0001c0001t0011g0197others(1): Show | 4 | 240 | 0.0167 | 13 | c.350 others(32): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
GSK3A_chr19_42225190_42247602 | 42227481 | G | GGGCGTGG others(6): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 224 | 0.0045 | 13 | c.*33 others(24): Show |
GSK3A | ENSG00000105723.13 | transcript | ENST00000222330.8 | protein_coding | 2708 | chr19 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119865467 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02630.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0013 | a0001c0001t0002g0236a0001c0002t0013g0064 | 2 | 300 | 0.0067 | 13 | c.910 others(30): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119971601 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0027 | 1 | 300 | 0.0033 | 13 | c.283 others(32): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11883459 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(155): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0013a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0158others(152): Show | 158 | 372 | 0.4247 | 13 | c.134 others(30): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11892506 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0006 | a0005c0006t0014 | a0005c0006t0014g0086 | 1 | 372 | 0.0027 | 13 | c.699 others(30): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11892524 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0005 | a0005c0006 | a0005c0006t0014 | a0005c0006t0014g0087 | 1 | 372 | 0.0027 | 13 | c.699 others(30): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11911854 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0125 | 1 | 372 | 0.0027 | 13 | c.352 others(30): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30700723 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01361.hp1 HG01515.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0096a0001c0001t0001g0132others(5): Show | 8 | 348 | 0.0230 | 13 | c.641 others(28): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 5/12 | chr8 | TogoVar | ||||||
GSTA1_chr6_52786371_52808816 | 52796543 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02698.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031a0001c0002t0002g0174a0001c0002t0002g0175 | 5 | 436 | 0.0115 | 13 | c.140 others(28): Show |
GSTA1 | ENSG00000243955.6 | transcript | ENST00000334575.6 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
GSTA4_chr6_52972953_53000284 | 52997121 | A | ACACACAC others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 324 | 0.0031 | 13 | c.-18 others(24): Show |
GSTA4 | ENSG00000170899.11 | transcript | ENST00000370963.9 | protein_coding | 1838 | chr6 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105766887 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0100 | 1 | 186 | 0.0054 | 13 | c.124 others(34): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTM2_chr1_109663057_109680286 | 109664341 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02129.hp2 HG03492.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(3): Show | 7 | 356 | 0.0197 | 13 | c.-37 others(24): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 3715 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109664341 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG03492.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0005 | 4 | 364 | 0.0110 | 13 | c.*30 others(24): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2642 | chr1 | TogoVar | ||||||
GSTO1_chr10_104249892_104272455 | 104250417 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0002g0014 | 3 | 378 | 0.0079 | 13 | c.-45 others(24): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4474 | chr10 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104272587 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0217 | 1 | 300 | 0.0033 | 13 | c.-23 others(32): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GSTO2_chr10_104264184_104309950 | 104293563 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03942.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0018 | a0001c0002t0002g0092a0001c0002t0018g0084 | 2 | 300 | 0.0067 | 13 | c.469 others(30): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GSTP1_chr11_67578812_67591653 | 67581719 | T | TTCTAGTA others(6): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01074.hp2 others(38): Show |
a0001a0002 | a0001c0012a0002c0002a0002c0003others(1): Show | a0001c0012t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0012t0001g0003a0002c0002t0001g0003a0002c0002t0002g0003others(4): Show | 41 | 392 | 0.1046 | 13 | c.-21 others(24): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 2092 | chr11 | TogoVar | ||||||
GSTP1_chr11_67578812_67591653 | 67583331 | A | AAATAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0032 | 26 | 392 | 0.0663 | 13 | c.-51 others(22): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 480 | chr11 | TogoVar | ||||||
GSTP1_chr11_67578812_67591653 | 67583336 | A | AAATAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | 13 | c.-50 others(22): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 475 | chr11 | TogoVar | ||||||
GSTP1_chr11_67578812_67591653 | 67583356 | A | AAATAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01192.hp2 |
a0002 | a0002c0002a0002c0010 | a0002c0002t0002a0002c0010t0002 | a0002c0002t0002g0003a0002c0010t0002g0003 | 2 | 392 | 0.0051 | 13 | c.-48 others(22): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 455 | chr11 | TogoVar | ||||||
GSX2_chr4_54095163_54107498 | 54104455 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0002t0002g0003 | 2 | 372 | 0.0054 | 13 | c.*25 others(24): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 1958 | chr4 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144133151 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0084 | 1 | 124 | 0.0081 | 13 | c.521 others(30): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144182808 | A | AATATATA others(6): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0102 | 1 | 124 | 0.0081 | 13 | c.179 others(32): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144242960 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02055.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0038 | a0001c0001t0001g0097a0001c0001t0002g0014a0001c0001t0002g0023others(1): Show | 4 | 124 | 0.0323 | 13 | c.-15 others(32): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
GTF2A2_chr15_59633062_59662515 | 59639131 | T | TTCATTCT others(6): Show |
frameshift_variant | HIGH | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0227 | 1 | 436 | 0.0023 | 13 | c.318 others(20): Show |
p.Ter others(5): Show |
GTF2A2 | ENSG00000140307.11 | transcript | ENST00000396060.7 | protein_coding | 5/5 | 489/1559 | 330/330 | 110/109 | chr15 | TogoVar | ||
GTF2B_chr1_88847633_88896567 | 88857691 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(280): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(261): Show | 283 | 372 | 0.7608 | 13 | c.536 others(28): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45150664 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG02451.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0047others(12): Show | 15 | 210 | 0.0714 | 13 | c.159 others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2F2_chr13_45115510_45289893 | 45168906 | T | TCCCTCCC others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 210 | 0.0048 | 13 | c.304 others(32): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0049others(4): Show | 7 | 210 | 0.0333 | 13 | c.305 others(32): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2F2_chr13_45115510_45289893 | 45212461 | T | TTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0067 | 2 | 210 | 0.0095 | 13 | c.386 others(30): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2F2_chr13_45115510_45289893 | 45228283 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 210 | 0.0048 | 13 | c.386 others(32): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2F2_chr13_45115510_45289893 | 45240101 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0099 | 2 | 210 | 0.0095 | 13 | c.387 others(32): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2F2_chr13_45115510_45289893 | 45273655 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01934.hp1 HG02451.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(16): Show | 19 | 210 | 0.0905 | 13 | c.630 others(30): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2H1_chr11_18317567_18372045 | 18367855 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 370 | 0.0027 | 13 | c.*19 others(24): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 811 | chr11 | TogoVar | ||||||
GTF2H1_chr11_18317567_18372045 | 18367880 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 370 | 0.0027 | 13 | c.*20 others(24): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 836 | chr11 | TogoVar | ||||||
GTF2H1_chr11_18317567_18372045 | 18367880 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 370 | 0.0027 | 13 | c.*20 others(24): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 836 | chr11 | TogoVar | ||||||
GTF2H1_chr11_18317567_18372045 | 18367880 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0281 | 2 | 370 | 0.0054 | 13 | c.*20 others(24): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 836 | chr11 | TogoVar | ||||||
GTF2H2C_chr5_69555191_69600221 | 69577863 | G | GGTTCTGC others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(124): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(68): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0025others(122): Show | 127 | 167 | 0.7605 | 13 | c.471 others(28): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GTF2H2_chr5_71030347_71072676 | 71034210 | C | CGCGCCCG others(6): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 79 | 0.0127 | 13 | c.*14 others(24): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1136 | chr5 | TogoVar | ||||||
GTF2H3_chr12_123628829_123667604 | 123661640 | C | CAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0013a0001c0002t0018a0001c0002t0022others(2): Show | a0001c0002t0013g0148a0001c0002t0013g0151a0001c0002t0018g0053others(3): Show | 6 | 272 | 0.0221 | 13 | c.*14 others(24): Show |
GTF2H3 | ENSG00000111358.14 | transcript | ENST00000543341.7 | protein_coding | 13/13 | 1418 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
GTF2H4_chr6_30903207_30919106 | 30906283 | C | CTGATTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 411 | 0.0024 | 13 | c.-21 others(24): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 1923 | chr6 | TogoVar | ||||||
GTF2H4_chr6_30903207_30919106 | 30915470 | G | GCCTCAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 411 | 0.0024 | 13 | c.*14 others(24): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 1365 | chr6 | TogoVar |