view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSAP_chr7_77305751_77421349 | 77402616 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0329 |
2 | 352 | 0.0057 | 18 | c.243 others(35): Show |
GSAP | ENSG00000186088.16 | transcript | ENST00000257626.12 | protein_coding | 3/30 | chr7 | TogoVar | |||||||
GSDMA_chr17_39958004_39982768 | 39962676 | T | TCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 438 | 0.0023 | 18 | c.-41 others(27): Show |
GSDMA | ENSG00000167914.12 | transcript | ENST00000301659.9 | protein_coding | 327 | chr17 | TogoVar | |||||||
GSDMA_chr17_39958004_39982768 | 39962676 | T | TCTCACAC others(11): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0007 | a0003c0007t0023 | a0003c0007t0023g0132 | 1 | 438 | 0.0023 | 18 | c.-41 others(27): Show |
GSDMA | ENSG00000167914.12 | transcript | ENST00000301659.9 | protein_coding | 327 | chr17 | TogoVar | |||||||
GSDMA_chr17_39958004_39982768 | 39968339 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 438 | 0.0023 | 18 | c.392 others(35): Show |
GSDMA | ENSG00000167914.12 | transcript | ENST00000301659.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GSDMC_chr8_129743196_129791624 | 129760636 | T | TGCCTGAG others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(265): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(177): Show |
268 | 416 | 0.6442 | 18 | c.677 others(31): Show |
GSDMC | ENSG00000147697.10 | transcript | ENST00000276708.9 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
GSDMC_chr8_129743196_129791624 | 129776738 | C | CTGCTGTT others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0007 | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0008t0007g0130 others(1): Show |
4 | 416 | 0.0096 | 18 | c.221 others(33): Show |
GSDMC | ENSG00000147697.10 | transcript | ENST00000276708.9 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85611306 | G | GCCCCTCC others(11): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG03225.hp1 |
a0001a0006 | a0001c0002a0006c0011 | a0001c0002t0006a0001c0002t0018a0006c0011t0019 | a0001c0002t0006g0281 a0001c0002t0018g0283 a0006c0011t0019g0282 |
3 | 290 | 0.0103 | 18 | c.-20 others(29): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 2015 | chr16 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85627044 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02683.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0022others(1): Show | a0001c0001t0004g0188 a0001c0001t0009g0262 a0001c0001t0022g0021 others(2): Show |
5 | 290 | 0.0172 | 18 | c.8-6 others(31): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653301 | T | TCCTCCTC others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19007.hp2 NA19056.hp2 |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0002a0001c0001t0003a0008c0013t0021 | a0001c0001t0002g0173 a0001c0001t0003g0289 a0008c0013t0021g0284 |
3 | 290 | 0.0103 | 18 | c.427 others(33): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85656376 | G | GGAGCGCG others(11): Show |
disruptive_inframe_insertion | MODERATE | NA18950.hp1 | a0013 | a0013c0022 | a0013c0022t0030 | a0013c0022t0030g0072 | 1 | 290 | 0.0035 | 18 | c.102 others(27): Show |
p.Arg others(31): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 7/16 | 1117/7385 | 1047/3654 | 349/1217 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
GSG1L_chr16_27782528_28068714 | 27803766 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0052 | 1 | 240 | 0.0042 | 18 | c.898 others(35): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27803798 | T | TATATAGA others(11): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 a0001c0001t0003g0205 |
2 | 240 | 0.0083 | 18 | c.898 others(35): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27804037 | G | GGATAGAT others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0020a0001c0002t0004others(1): Show | a0001c0001t0002g0191 a0001c0001t0020g0187 a0001c0002t0004g0169 others(1): Show |
4 | 240 | 0.0167 | 18 | c.898 others(35): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27888464 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 240 | 0.0042 | 18 | c.398 others(35): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27888927 | G | GATAGATA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0131 others(22): Show |
25 | 240 | 0.1042 | 18 | c.398 others(35): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27946579 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0220 a0001c0001t0005g0182 |
2 | 240 | 0.0083 | 18 | c.397 others(37): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27946579 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 240 | 0.0042 | 18 | c.397 others(37): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27946579 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0153 | 1 | 240 | 0.0042 | 18 | c.397 others(37): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27948908 | C | CTATTATT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00639.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0020a0001c0001t0041others(18): Show | a0001c0001t0002g0179 a0001c0001t0020g0187 a0001c0001t0041g0165 others(59): Show |
62 | 240 | 0.2583 | 18 | c.397 others(37): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979661 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010 | a0001c0002t0001g0190 a0001c0002t0010g0037 |
2 | 240 | 0.0083 | 18 | c.350 others(37): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSPT1_chr16_11863128_11920956 | 11911854 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02738.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0095 a0003c0003t0003g0119 |
2 | 372 | 0.0054 | 18 | c.352 others(35): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
GSS_chr20_34923432_34960806 | 34950011 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0176 |
2 | 352 | 0.0057 | 18 | c.129 others(35): Show |
GSS | ENSG00000100983.12 | transcript | ENST00000651619.1 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
GSS_chr20_34923432_34960806 | 34950013 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 352 | 0.0028 | 18 | c.129 others(35): Show |
GSS | ENSG00000100983.12 | transcript | ENST00000651619.1 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
GSTCD_chr4_105703784_105852725 | 105728669 | C | CTAGATAT others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 a0001c0001t0008g0073 |
2 | 186 | 0.0108 | 18 | c.114 others(35): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105728680 | T | TATAGATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01070.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0115 a0001c0001t0003g0123 a0001c0001t0003g0124 others(18): Show |
21 | 186 | 0.1129 | 18 | c.114 others(35): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105728680 | T | TATAGATA others(11): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 | 1 | 186 | 0.0054 | 18 | c.114 others(35): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105756495 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 186 | 0.0054 | 18 | c.124 others(39): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105766887 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02965.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0002 | a0001c0001t0002g0071 a0001c0001t0009g0141 a0001c0001t0009g0142 others(1): Show |
4 | 186 | 0.0215 | 18 | c.124 others(39): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTK1_chr7_143258441_143274115 | 143259865 | C | CCTTCCAA others(11): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 382 | 0.0026 | 18 | c.-36 others(29): Show |
GSTK1 | ENSG00000197448.14 | transcript | ENST00000358406.10 | protein_coding | 3575 | chr7 | TogoVar | |||||||
GSTM4_chr1_109651099_109666700 | 109656550 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18940.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 2 | 364 | 0.0055 | 18 | c.37- others(31): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GSTO1_chr10_104249892_104272455 | 104250417 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 378 | 0.0027 | 18 | c.-45 others(29): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4474 | chr10 | TogoVar | |||||||
GSTO2_chr10_104264184_104309950 | 104293563 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19060.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0003a0001c0008t0001 | a0001c0003t0003g0073 a0001c0008t0001g0048 |
2 | 300 | 0.0067 | 18 | c.469 others(35): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104309330 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0064 | 1 | 300 | 0.0033 | 18 | c.*10 others(31): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 4381 | chr10 | TogoVar | |||||||
GSTP1_chr11_67578812_67591653 | 67583326 | A | AAATAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 NA18990.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 392 | 0.0077 | 18 | c.-51 others(27): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 485 | chr11 | TogoVar | |||||||
GSX2_chr4_54095163_54107498 | 54104455 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 2 | 372 | 0.0054 | 18 | c.*25 others(29): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 1958 | chr4 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144101394 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 124 | 0.0081 | 18 | c.521 others(37): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144182875 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 124 | 0.0081 | 18 | c.179 others(37): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144318194 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0006 | a0006c0013 | a0006c0013t0045 | a0006c0013t0045g0101 | 1 | 124 | 0.0081 | 18 | c.-15 others(39): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
GTF2A1_chr14_81170452_81225959 | 81211873 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01496.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0016others(1): Show | a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0014g0051 others(3): Show |
6 | 350 | 0.0171 | 18 | c.132 others(35): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
GTF2A1_chr14_81170452_81225959 | 81211875 | T | TCATATAT others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0180 | 1 | 350 | 0.0029 | 18 | c.132 others(35): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
GTF2A1_chr14_81170452_81225959 | 81211875 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0033 | a0001c0001t0006g0063 a0001c0001t0033g0064 |
2 | 350 | 0.0057 | 18 | c.132 others(35): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
GTF2B_chr1_88847633_88896567 | 88857691 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 372 | 0.0027 | 18 | c.536 others(33): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
GTF2B_chr1_88847633_88896567 | 88892769 | A | AGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0070 a0001c0001t0001g0257 others(2): Show |
5 | 372 | 0.0134 | 18 | c.-12 others(29): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 1203 | chr1 | TogoVar | |||||||
GTF2B_chr1_88847633_88896567 | 88894027 | T | TACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0052 others(6): Show |
9 | 372 | 0.0242 | 18 | c.-25 others(29): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 2461 | chr1 | TogoVar | |||||||
GTF2F1_chr19_6374572_6398164 | 6396587 | T | TTGGGACA others(11): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 378 | 0.0027 | 18 | c.-35 others(29): Show |
GTF2F1 | ENSG00000125651.14 | transcript | ENST00000394456.10 | protein_coding | 3424 | chr19 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG02055.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0089 others(1): Show |
4 | 210 | 0.0191 | 18 | c.305 others(37): 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(11): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0084 |
2 | 210 | 0.0095 | 18 | c.305 others(37): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 210 | 0.0048 | 18 | c.305 others(37): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45212447 | G | GTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01192.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0023 others(19): Show |
22 | 210 | 0.1048 | 18 | c.386 others(35): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45241184 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 210 | 0.0048 | 18 | c.387 others(37): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |