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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSG1L_chr16_27782528_28068714 | 27782555 | ACCCAGAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0034 | a0001c0001t0010g0024a0001c0002t0034g0235 | 2 | 240 | 0.0083 | -11 | c.*88 others(22): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 4972 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27789706 | GGATGGAT others(4): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0034 | 1 | 240 | 0.0042 | -11 | c.*16 others(22): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 7/7 | 1653 | chr16 | TogoVar | |||||
GSG1L_chr16_27782528_28068714 | 27865563 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 240 | 0.0042 | -11 | c.550 others(30): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27888478 | CTTTCCTT others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096a0001c0001t0002g0231 | 2 | 240 | 0.0083 | -11 | c.398 others(28): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27946570 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0228 | 1 | 240 | 0.0042 | -11 | c.397 others(30): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27946618 | AGAGAGAG others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0196 | 1 | 240 | 0.0042 | -11 | c.397 others(30): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 28007504 | TTGGTTGG others(4): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0228 | 1 | 240 | 0.0042 | -11 | c.350 others(30): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119865458 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0068 | 1 | 300 | 0.0033 | -11 | c.910 others(28): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119865460 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0044others(1): Show | a0001c0001t0001g0123a0001c0001t0001g0143a0001c0001t0001g0144others(6): Show | 9 | 300 | 0.0300 | -11 | c.910 others(28): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119865462 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 300 | 0.0033 | -11 | c.910 others(28): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119901977 | GAAAGAAA others(4): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(114): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0088others(114): Show | 117 | 300 | 0.3900 | -11 | c.813 others(28): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 7/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120079342 | ACACACAC others(4): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 300 | 0.0033 | -11 | c.88+ others(28): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120082385 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01346.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0036a0001c0001t0038others(2): Show | a0001c0001t0009g0006a0001c0001t0009g0007a0001c0001t0009g0008others(10): Show | 13 | 300 | 0.0433 | -11 | c.88+ others(28): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
GSN_chr9_121263162_121337842 | 121272431 | ATAATGTC others(4): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 322 | 0.0031 | -11 | c.-10 others(30): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GSPT1_chr16_11863128_11920956 | 11894155 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02451.hp2 others(4): Show |
a0001a0005a0009others(1): Show | a0001c0001a0005c0006a0009c0019others(1): Show | a0001c0001t0006a0005c0006t0006a0009c0019t0033others(1): Show | a0001c0001t0006g0129a0001c0001t0006g0133a0001c0001t0006g0134others(4): Show | 7 | 372 | 0.0188 | -11 | c.698 others(26): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11908759 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01261.hp2 HG01358.hp2 others(2): Show |
a0003a0004 | a0003c0003a0004c0004a0004c0009 | a0003c0003t0003a0004c0004t0003a0004c0009t0003 | a0003c0003t0003g0098a0003c0003t0003g0125a0004c0004t0003g0349others(2): Show | 5 | 372 | 0.0134 | -11 | c.352 others(28): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11911854 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 372 | 0.0027 | -11 | c.352 others(28): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30685985 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 348 | 0.0029 | -11 | c.104 others(30): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 9/12 | chr8 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30710714 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0224a0001c0001t0007g0217a0001c0001t0007g0219others(4): Show | 7 | 348 | 0.0201 | -11 | c.334 others(26): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 2/12 | chr8 | TogoVar | ||||||
GSTA2_chr6_52745087_52768475 | 52759563 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01243.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0002c0009a0006c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0037others(10): Show | 26 | 440 | 0.0591 | -11 | c.-30 others(28): Show |
GSTA2 | ENSG00000244067.3 | transcript | ENST00000493422.3 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
GSTA2_chr6_52745087_52768475 | 52767044 | CACAATAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01255.hp2 others(11): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0007g0034others(7): Show | 14 | 440 | 0.0318 | -11 | c.-36 others(22): Show |
GSTA2 | ENSG00000244067.3 | transcript | ENST00000493422.3 | protein_coding | 3570 | chr6 | TogoVar | ||||||
GSTA3_chr6_52891646_52914698 | 52912115 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA19062.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | -11 | c.-25 others(22): Show |
GSTA3 | ENSG00000174156.15 | transcript | ENST00000211122.4 | protein_coding | 2418 | chr6 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105755056 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0133a0001c0001t0008g0072 | 2 | 186 | 0.0108 | -11 | c.124 others(32): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTCD_chr4_105703784_105852725 | 105797760 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0002 | a0001c0001t0019g0066a0001c0002t0002g0081 | 2 | 186 | 0.0108 | -11 | c.124 others(32): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTM2_chr1_109663057_109680286 | 109664341 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01106.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0027others(3): Show | 6 | 356 | 0.0169 | -11 | c.-37 others(22): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 3715 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654122 | AAAGAAAG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0032 | 1 | 364 | 0.0028 | -11 | c.-22 others(22): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1976 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109664341 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG02897.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0006c0005t0016 | a0001c0001t0001g0009a0001c0001t0001g0025a0001c0001t0001g0086others(2): Show | 5 | 364 | 0.0137 | -11 | c.*30 others(22): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2642 | chr1 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104272587 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01168.hp1 NA18960.hp2 NA18970.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0027a0002c0001t0001g0149a0002c0001t0001g0150 | 4 | 300 | 0.0133 | -11 | c.-23 others(30): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GSTO2_chr10_104264184_104309950 | 104280165 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02004.hp2 NA18747.hp1 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0172a0002c0001t0001g0182a0002c0001t0001g0199others(2): Show | 5 | 300 | 0.0167 | -11 | c.468 others(26): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GTDC1_chr2_143933068_144337512 | 144080826 | TAAGAATC others(4): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 124 | 0.0081 | -11 | c.521 others(30): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144133140 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01358.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0001t0007a0001c0001t0023others(2): Show | a0001c0001t0002g0021a0001c0001t0002g0023a0001c0001t0002g0073others(5): Show | 8 | 124 | 0.0645 | -11 | c.521 others(28): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144182862 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0059 | 1 | 124 | 0.0081 | -11 | c.179 others(30): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144260786 | AATAAATA others(4): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024 | 1 | 124 | 0.0081 | -11 | c.-15 others(32): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
GTF2A1L_chr2_48612856_48684604 | 48661247 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01361.hp2 HG01515.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0273a0001c0001t0001g0304others(10): Show | 14 | 344 | 0.0407 | -11 | c.979 others(28): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GTF2A1_chr14_81170452_81225959 | 81218814 | TTGCAGTC others(4): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 350 | 0.0029 | -11 | c.30+ others(26): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
GTF2B_chr1_88847633_88896567 | 88861169 | CAAAAATC others(4): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0175a0001c0001t0005g0345 | 2 | 372 | 0.0054 | -11 | c.259 others(26): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
GTF2B_chr1_88847633_88896567 | 88872455 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | NA18994.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0121 | 2 | 372 | 0.0054 | -11 | c.125 others(28): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
GTF2B_chr1_88847633_88896567 | 88882310 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0119a0001c0001t0002g0120a0001c0001t0002g0174others(2): Show | 5 | 372 | 0.0134 | -11 | c.124 others(28): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
GTF2B_chr1_88847633_88896567 | 88892882 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 372 | 0.0027 | -11 | c.-13 others(22): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 1316 | chr1 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30585772 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0212others(1): Show | 4 | 378 | 0.0106 | -11 | c.644 others(28): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30591491 | AAAAAATA others(4): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0143 | 2 | 378 | 0.0053 | -11 | c.644 others(30): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30637509 | ATTTTATT others(4): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 378 | 0.0027 | -11 | c.167 others(28): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
GTF2F1_chr19_6374572_6398164 | 6376790 | CACAAGAT others(4): Show |
C | downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 378 | 0.0027 | -11 | c.*34 others(22): Show |
GTF2F1 | ENSG00000125651.14 | transcript | ENST00000394456.10 | protein_coding | 2781 | chr19 | TogoVar | ||||||
GTF2F1_chr19_6374572_6398164 | 6391439 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 378 | 0.0027 | -11 | c.132 others(26): Show |
GTF2F1 | ENSG00000125651.14 | transcript | ENST00000394456.10 | protein_coding | 3/12 | chr19 | TogoVar | ||||||
GTF2H1_chr11_18317567_18372045 | 18323800 | CACAGTTT others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02451.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0033others(23): Show | 27 | 370 | 0.0730 | -11 | c.-16 others(28): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GTF2H1_chr11_18317567_18372045 | 18367877 | AAAAATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02040.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0190a0001c0001t0001g0204 | 4 | 370 | 0.0108 | -11 | c.*20 others(22): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 833 | chr11 | TogoVar | ||||||
GTF2H1_chr11_18317567_18372045 | 18367879 | AAATATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 370 | 0.0027 | -11 | c.*20 others(22): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 835 | chr11 | TogoVar | ||||||
GTF2H1_chr11_18317567_18372045 | 18367881 | ATATATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG02074.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0048others(5): Show | 8 | 370 | 0.0216 | -11 | c.*20 others(22): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 837 | chr11 | TogoVar | ||||||
GTF2H2C_chr5_69555191_69600221 | 69593938 | GAAAAAAA others(4): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0003 | a0002c0003t0081 | a0002c0003t0081g0111 | 1 | 167 | 0.0060 | -11 | c.*17 others(22): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 1756 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
GTF2H2_chr5_71030347_71072676 | 71030448 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp1 HG03239.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0035a0001c0002t0001g0044 | 2 | 79 | 0.0253 | -11 | c.*52 others(22): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 4898 | chr5 | TogoVar |