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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIN2A_chr16_9748408_10187428 | 10132340 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01256.hp2 HG01496.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0019others(7): Show | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0013g0088others(8): Show | 11 | 168 | 0.0655 | 19 | c.414 others(38): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
GRIN2B_chr12_13532337_13986602 | 13692760 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02071.hp2 HG02135.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0086a0001c0002t0002a0001c0003t0031others(5): Show | a0001c0001t0086g0098a0001c0002t0002g0120a0001c0003t0031g0008others(5): Show | 8 | 194 | 0.0412 | 19 | c.101 others(40): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 4/13 | chr12 | TogoVar | ||||||
GRIN2B_chr12_13532337_13986602 | 13825494 | T | TATATTTT others(12): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0067 | a0001c0003t0067g0147 | 1 | 194 | 0.0052 | 19 | c.411 others(38): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 3/13 | chr12 | TogoVar | ||||||
GRIN2B_chr12_13532337_13986602 | 13834218 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0180 | 1 | 194 | 0.0052 | 19 | c.411 others(38): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 3/13 | chr12 | TogoVar | ||||||
GRIN2B_chr12_13532337_13986602 | 13954811 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0011a0001c0011t0025 | a0001c0002t0011g0180a0001c0011t0025g0148 | 2 | 194 | 0.0103 | 19 | c.-19 others(38): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 2/13 | chr12 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48426224 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02486.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0007t0004 | a0001c0002t0002g0282a0001c0007t0004g0309 | 2 | 366 | 0.0055 | 19 | c.225 others(38): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GRIP1_chr12_66342431_66684076 | 66451383 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 224 | 0.0045 | 19 | c.135 others(38): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 11/24 | chr12 | TogoVar | ||||||
GRK2_chr11_67261473_67291556 | 67274495 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG03710.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0122a0001c0002t0001g0021a0001c0002t0001g0116 | 5 | 302 | 0.0166 | 19 | c.114 others(36): 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(12): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03017.hp1 |
a0004a0006 | a0004c0005a0006c0006 | a0004c0005t0002a0006c0006t0002 | a0004c0005t0002g0037a0006c0006t0002g0172 | 2 | 268 | 0.0075 | 19 | c.149 others(34): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GRK5_chr10_119202571_119464745 | 119335176 | C | CTCTCTCT others(12): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0002 | a0003c0002t0061 | a0003c0002t0061g0197 | 1 | 202 | 0.0050 | 19 | c.148 others(36): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141777322 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(52): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0065a0001c0001t0001g0070others(51): Show | 55 | 358 | 0.1536 | 19 | c.-11 others(36): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM1_chr6_146024062_146442601 | 146146103 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02895.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0150a0002c0002t0003g0050 | 2 | 158 | 0.0127 | 19 | c.701 others(38): 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(12): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0005a0001c0006t0001 | a0001c0001t0001g0004a0001c0004t0005g0083a0001c0006t0001g0022 | 3 | 158 | 0.0190 | 19 | c.173 others(38): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GRM3_chr7_86638909_86869879 | 86746341 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 216 | 0.0046 | 19 | c.-14 others(40): Show |
GRM3 | ENSG00000198822.11 | transcript | ENST00000361669.7 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88681565 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01978.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0066a0001c0001t0001g0092others(5): Show | 8 | 184 | 0.0435 | 19 | c.912 others(38): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 6901604 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 80 | 0.0125 | 19 | c.519 others(38): 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(12): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 HG01981.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0002g0064others(3): Show | 6 | 80 | 0.0750 | 19 | c.519 others(40): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM7_chr3_6856115_7746533 | 7259953 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0002g0066a0001c0002t0002g0023a0001c0002t0002g0030others(4): Show | 7 | 80 | 0.0875 | 19 | c.737 others(38): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM7_chr3_6856115_7746533 | 7661794 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0069 | 1 | 80 | 0.0125 | 19 | c.245 others(40): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GRM8_chr7_126433598_127257941 | 126775479 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 108 | 0.0093 | 19 | c.115 others(38): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
GRM8_chr7_126433598_127257941 | 127055192 | G | GAAACTTC others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(83): Show | 86 | 108 | 0.7963 | 19 | c.727 others(38): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | ||||||
GRPR_chrX_16118565_16158518 | 16120873 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 NA18965.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0012 | a0001c0002t0003g0026a0001c0002t0012g0010 | 2 | 283 | 0.0071 | 19 | c.-30 others(30): Show |
GRPR | ENSG00000126010.6 | transcript | ENST00000380289.3 | protein_coding | 2691 | chrX | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59219540 | A | AGAGGAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01981.hp1 HG02615.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0057a0001c0001t0001g0058others(10): Show | 15 | 408 | 0.0368 | 19 | c.-72 others(28): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 617 | chr18 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113332345 | A | ACACACGT others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03017.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0196a0001c0001t0001g0212 | 3 | 288 | 0.0104 | 19 | c.563 others(36): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113363717 | A | AACCCACC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(25): Show | 29 | 288 | 0.1007 | 19 | c.181 others(32): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
GRWD1_chr19_48440983_48462022 | 48461550 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0018 | a0001c0002t0008g0022a0001c0002t0018g0028 | 2 | 434 | 0.0046 | 19 | c.*85 others(30): Show |
GRWD1 | ENSG00000105447.13 | transcript | ENST00000253237.10 | protein_coding | 4529 | chr19 | TogoVar | ||||||
GRXCR1_chr4_42887713_43035658 | 42990173 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03688.hp1 NA18965.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0149a0002c0002t0001g0218a0002c0002t0001g0224others(2): Show | 5 | 338 | 0.0148 | 19 | c.627 others(38): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSAP_chr7_77305751_77421349 | 77377237 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG03471.hp2 others(5): Show |
a0002a0003 | a0002c0003a0002c0007a0003c0004 | a0002c0003t0001a0002c0007t0001a0003c0004t0002 | a0002c0003t0001g0068a0002c0003t0001g0090a0002c0003t0001g0320others(5): Show | 8 | 352 | 0.0227 | 19 | c.681 others(32): Show |
GSAP | ENSG00000186088.16 | transcript | ENST00000257626.12 | protein_coding | 9/30 | chr7 | TogoVar | ||||||
GSAP_chr7_77305751_77421349 | 77414844 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0190 | 1 | 352 | 0.0028 | 19 | c.109 others(36): Show |
GSAP | ENSG00000186088.16 | transcript | ENST00000257626.12 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
GSDMA_chr17_39958004_39982768 | 39968339 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp2 HG01169.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0231a0003c0003t0003g0236a0003c0003t0003g0237 | 3 | 438 | 0.0069 | 19 | c.392 others(36): Show |
GSDMA | ENSG00000167914.12 | transcript | ENST00000301659.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GSE1_chr16_85608322_85681200 | 85627044 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0041a0001c0001t0009g0152 | 2 | 290 | 0.0069 | 19 | c.8-6 others(32): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSE1_chr16_85608322_85681200 | 85653270 | T | TCCTCCTC others(12): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0024 | a0024c0034 | a0024c0034t0001 | a0024c0034t0001g0117 | 1 | 290 | 0.0035 | 19 | c.427 others(34): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSE1_chr16_85608322_85681200 | 85671439 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02572.hp1 |
a0007a0008 | a0007c0012a0008c0013 | a0007c0012t0021a0008c0013t0021a0008c0013t0055 | a0007c0012t0021g0239a0008c0013t0021g0284a0008c0013t0055g0119 | 3 | 290 | 0.0103 | 19 | c.351 others(36): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSG1L_chr16_27782528_28068714 | 27813281 | C | CCCTCTAT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0020others(7): Show | a0001c0001t0003g0082a0001c0001t0003g0125a0001c0001t0007g0045others(14): Show | 17 | 240 | 0.0708 | 19 | c.831 others(36): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27911280 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 240 | 0.0042 | 19 | c.398 others(38): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11911854 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0094 | 1 | 372 | 0.0027 | 19 | c.352 others(36): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30700723 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 348 | 0.0029 | 19 | c.641 others(34): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 5/12 | chr8 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105766887 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0122a0001c0001t0003g0125a0001c0002t0002g0083 | 3 | 186 | 0.0161 | 19 | c.124 others(40): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTO2_chr10_104264184_104309950 | 104293563 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01515.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0020a0001c0002t0046others(1): Show | a0001c0002t0002g0006a0001c0002t0020g0006a0001c0002t0046g0098others(1): Show | 5 | 300 | 0.0167 | 19 | c.469 others(36): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GSTO2_chr10_104264184_104309950 | 104309331 | T | TATATATA others(12): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0074 | 1 | 300 | 0.0033 | 19 | c.*10 others(32): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 4382 | chr10 | TogoVar | ||||||
GSTP1_chr11_67578812_67591653 | 67583374 | T | TATAAAAT others(12): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 392 | 0.0051 | 19 | c.-47 others(28): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 437 | chr11 | TogoVar | ||||||
GSX2_chr4_54095163_54107498 | 54104455 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 3 | 372 | 0.0081 | 19 | c.*25 others(30): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 1958 | chr4 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144136395 | A | AAAGGAAA others(12): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 124 | 0.0081 | 19 | c.521 others(36): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144242960 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 124 | 0.0081 | 19 | c.-15 others(38): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
GTF2A1L_chr2_48612856_48684604 | 48615466 | A | AGGAGAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(75): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0016others(70): Show | 78 | 344 | 0.2267 | 19 | c.-24 others(30): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 2389 | chr2 | TogoVar | ||||||
GTF2A1L_chr2_48612856_48684604 | 48615522 | C | CGGGAGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282a0001c0001t0001g0283a0001c0001t0001g0284others(4): Show | 7 | 344 | 0.0204 | 19 | c.-23 others(30): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 2333 | chr2 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45212451 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02818.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0056others(2): Show | 5 | 210 | 0.0238 | 19 | c.386 others(36): 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(12): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 210 | 0.0048 | 19 | c.386 others(38): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2H1_chr11_18317567_18372045 | 18367855 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 | 1 | 370 | 0.0027 | 19 | c.*19 others(30): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 811 | chr11 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169681 | A | ATATATTA others(12): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0024 | a0001c0001t0006g0031a0001c0001t0024g0031 | 2 | 384 | 0.0052 | 19 | c.-34 others(34): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |