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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIP1_chr12_66342431_66684076 | 66363229 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 224 | 0.0045 | 23 | c.301 others(42): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 23/24 | chr12 | TogoVar | ||||||
GRK2_chr11_67261473_67291556 | 67274495 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01081.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0128others(6): Show | 15 | 302 | 0.0497 | 23 | c.114 others(40): Show |
GRK2 | ENSG00000173020.11 | transcript | ENST00000308595.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRK4_chr4_2958571_3045760 | 2988075 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01928.hp2 HG02451.hp1 others(9): Show |
a0003a0004a0006others(2): Show | a0003c0003a0004c0005a0006c0006others(2): Show | a0003c0003t0002a0004c0005t0002a0006c0006t0002others(2): Show | a0003c0003t0002g0040a0003c0003t0002g0195a0003c0003t0002g0196others(9): Show | 12 | 268 | 0.0448 | 23 | c.149 others(38): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GRK5_chr10_119202571_119464745 | 119382188 | C | CAGGCTCT others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00741.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0194others(32): Show | 35 | 202 | 0.1733 | 23 | c.261 others(40): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GRK5_chr10_119202571_119464745 | 119451082 | A | ATCGTCCC others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03579.hp2 HG04228.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0072a0001c0001t0086a0002c0003t0070 | a0001c0001t0072g0140a0001c0001t0086g0154a0002c0003t0070g0152 | 3 | 202 | 0.0149 | 23 | c.140 others(42): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GRK7_chr3_141758408_141824352 | 141777322 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0084a0001c0001t0001g0231a0001c0001t0011g0218 | 3 | 358 | 0.0084 | 23 | c.-11 others(40): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRK7_chr3_141758408_141824352 | 141823440 | A | ATTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0012a0003c0003t0004 | a0001c0001t0012g0256a0003c0003t0004g0029 | 2 | 358 | 0.0056 | 23 | c.*63 others(34): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 4089 | chr3 | TogoVar | ||||||
GRM1_chr6_146024062_146442601 | 146146103 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0041 | 1 | 158 | 0.0063 | 23 | c.701 others(42): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GRM1_chr6_146024062_146442601 | 146396093 | T | TATCTATC others(16): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0032a0001c0008t0009 | a0001c0006t0032g0080a0001c0008t0009g0092 | 2 | 158 | 0.0127 | 23 | c.173 others(42): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GRM5_chr11_88499642_89070982 | 88570571 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0144 | 1 | 184 | 0.0054 | 23 | c.169 others(42): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 7/9 | chr11 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88570571 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03041.hp2 NA18906.hp1 |
a0001a0003a0004 | a0001c0001a0003c0015a0004c0012 | a0001c0001t0025a0003c0015t0001a0004c0012t0026 | a0001c0001t0025g0070a0003c0015t0001g0018a0004c0012t0026g0016 | 3 | 184 | 0.0163 | 23 | c.169 others(42): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 7/9 | chr11 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88570571 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 184 | 0.0054 | 23 | c.169 others(42): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 7/9 | chr11 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88681565 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18989.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0042a0001c0001t0002g0063a0001c0001t0036g0181 | 3 | 184 | 0.0163 | 23 | c.912 others(42): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88838084 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 184 | 0.0054 | 23 | c.911 others(42): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88845423 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0104 | 1 | 184 | 0.0054 | 23 | c.911 others(40): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 6961875 | G | GAGGTATA others(16): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0041 | 1 | 80 | 0.0125 | 23 | c.519 others(42): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM7_chr3_6856115_7746533 | 6998119 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017 | 1 | 80 | 0.0125 | 23 | c.519 others(44): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM7_chr3_6856115_7746533 | 7229759 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0041 | 1 | 80 | 0.0125 | 23 | c.737 others(42): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM7_chr3_6856115_7746533 | 7229760 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0007 | 1 | 80 | 0.0125 | 23 | c.737 others(42): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 7252671 | C | CTTTTCTT others(16): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 80 | 0.0125 | 23 | c.737 others(42): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM7_chr3_6856115_7746533 | 7259953 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 80 | 0.0125 | 23 | c.737 others(42): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM8_chr7_126433598_127257941 | 126788409 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 108 | 0.0093 | 23 | c.115 others(44): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
GRN_chr17_44340302_44358106 | 44357757 | G | GTGTGTGT others(16): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 452 | 0.0022 | 23 | c.*49 others(34): Show |
GRN | ENSG00000030582.19 | transcript | ENST00000053867.8 | protein_coding | 4652 | chr17 | TogoVar | ||||||
GRPR_chrX_16118565_16158518 | 16120873 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0022a0001c0002t0005g0060 | 2 | 283 | 0.0071 | 23 | c.-30 others(34): Show |
GRPR | ENSG00000126010.6 | transcript | ENST00000380289.3 | protein_coding | 2691 | chrX | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113352362 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | 288 | 0.0069 | 23 | c.341 others(40): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113364265 | G | GCGGGGGA others(16): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 288 | 0.0035 | 23 | c.-21 others(32): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 136 | chr13 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113364265 | G | GCGGGGGA others(16): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 288 | 0.0035 | 23 | c.-21 others(32): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 136 | chr13 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113364272 | A | AGGGGCGG others(16): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 288 | 0.0035 | 23 | c.-22 others(32): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 143 | chr13 | TogoVar | ||||||
GSAP_chr7_77305751_77421349 | 77402593 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0103 | 1 | 352 | 0.0028 | 23 | c.243 others(40): Show |
GSAP | ENSG00000186088.16 | transcript | ENST00000257626.12 | protein_coding | 3/30 | chr7 | TogoVar | ||||||
GSAP_chr7_77305751_77421349 | 77402616 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01993.hp2 NA18906.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0085others(4): Show | 7 | 352 | 0.0199 | 23 | c.243 others(40): Show |
GSAP | ENSG00000186088.16 | transcript | ENST00000257626.12 | protein_coding | 3/30 | chr7 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85627044 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01993.hp1 HG02809.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0045others(2): Show | a0001c0001t0002a0001c0001t0017a0001c0003t0001others(3): Show | a0001c0001t0002g0087a0001c0001t0017g0243a0001c0003t0001g0206others(3): Show | 6 | 290 | 0.0207 | 23 | c.8-6 others(36): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSE1_chr16_85608322_85681200 | 85651026 | G | GCTCCTCC others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0055others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(20): Show | a0001c0001t0002g0041a0001c0001t0002g0069a0001c0001t0002g0097others(39): Show | 42 | 290 | 0.1448 | 23 | c.426 others(40): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSE1_chr16_85608322_85681200 | 85651026 | G | GCTCTCCC others(16): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 290 | 0.0035 | 23 | c.426 others(40): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSE1_chr16_85608322_85681200 | 85651052 | C | CCTCCCCC others(16): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02698.hp1 HG03492.hp2 |
a0002a0011a0014 | a0002c0004a0011c0052a0014c0049 | a0002c0004t0002a0011c0052t0002a0014c0049t0037 | a0002c0004t0002g0019a0011c0052t0002g0122a0014c0049t0037g0125 | 3 | 290 | 0.0103 | 23 | c.426 others(40): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSG1L_chr16_27782528_28068714 | 27946584 | A | AGAAAGAG others(16): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0045 | 1 | 240 | 0.0042 | 23 | c.397 others(42): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27946656 | A | AAAGAAAG others(16): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0216 | 1 | 240 | 0.0042 | 23 | c.397 others(42): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119865467 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0055 | 1 | 300 | 0.0033 | 23 | c.910 others(40): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
GSTA1_chr6_52786371_52808816 | 52796543 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18981.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170a0001c0002t0002g0181 | 2 | 436 | 0.0046 | 23 | c.140 others(38): Show |
GSTA1 | ENSG00000243955.6 | transcript | ENST00000334575.6 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
GSTA1_chr6_52786371_52808816 | 52796543 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 436 | 0.0023 | 23 | c.140 others(38): Show |
GSTA1 | ENSG00000243955.6 | transcript | ENST00000334575.6 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104293563 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00323.hp1 NA20805.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101a0001c0002t0002g0118a0001c0002t0002g0121 | 3 | 300 | 0.0100 | 23 | c.469 others(40): 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(16): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0059 | 1 | 300 | 0.0033 | 23 | c.*10 others(36): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 4381 | chr10 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104309331 | T | TATATATA others(16): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 NA19002.hp2 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0003a0002c0005t0003 | a0001c0003t0003g0069a0002c0005t0003g0219 | 2 | 300 | 0.0067 | 23 | c.*10 others(36): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 4382 | chr10 | TogoVar | ||||||
GSTP1_chr11_67578812_67591653 | 67583356 | A | AAATAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01081.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 13 | 392 | 0.0332 | 23 | c.-48 others(32): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 455 | chr11 | TogoVar | ||||||
GTF2A2_chr15_59633062_59662515 | 59640156 | T | TACTACAC others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(180): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(106): Show | 183 | 436 | 0.4197 | 23 | c.305 others(40): Show |
GTF2A2 | ENSG00000140307.11 | transcript | ENST00000396060.7 | protein_coding | 4/4 | chr15 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 210 | 0.0048 | 23 | c.305 others(42): 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(16): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02074.hp2 HG03654.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104a0001c0002t0001g0127a0001c0002t0001g0136others(11): Show | 14 | 210 | 0.0667 | 23 | c.386 others(40): 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(16): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 210 | 0.0048 | 23 | c.386 others(42): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2H1_chr11_18317567_18372045 | 18367876 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 370 | 0.0027 | 23 | c.*20 others(34): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 832 | chr11 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169480 | A | ATATAATA others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02451.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0042 | a0001c0001t0007g0003a0001c0001t0007g0047a0001c0001t0007g0048others(10): Show | 16 | 384 | 0.0417 | 23 | c.-34 others(38): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF2H5_chr6_158163350_158204344 | 158169745 | T | TAATATAT others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02451.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0038others(2): Show | a0001c0001t0007g0003a0001c0001t0007g0048a0001c0001t0007g0049others(10): Show | 16 | 384 | 0.0417 | 23 | c.-34 others(38): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | chr6 | TogoVar |