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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABPB2_chr1_151065761_151130542 | 151104802 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(17): Show | a0001c0001t0001g0105a0001c0001t0001g0136a0001c0001t0001g0195others(33): Show | 36 | 264 | 0.1364 | 11 | c.736 others(28): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GABRA1_chr5_161843120_161904971 | 161850081 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 394 | 0.0025 | 11 | c.-15 others(26): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
GABRA1_chr5_161843120_161904971 | 161893048 | T | TAATAAAA others(4): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 394 | 0.0025 | 11 | c.856 others(28): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GABRA1_chr5_161843120_161904971 | 161893048 | T | TAATAATA others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03453.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0165a0001c0001t0007g0167a0001c0001t0007g0341 | 3 | 394 | 0.0076 | 11 | c.856 others(28): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GABRA2_chr4_46238548_46395128 | 46389802 | G | GAGAGAGA others(4): Show |
5_prime_UTR_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0183 | a0001c0002t0183g0236 | 1 | 258 | 0.0039 | 11 | c.-79 others(18): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1097 | chr4 | TogoVar | |||||
GABRA3_chrX_152161234_152456315 | 152225408 | A | ACACACCA others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 204 | 0.0049 | 11 | c.552 others(26): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 5/9 | chrX | TogoVar | ||||||
GABRA5_chr15_26862062_26954208 | 26895812 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0067a0001c0002t0001g0130others(3): Show | 6 | 376 | 0.0160 | 11 | c.497 others(30): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRA5_chr15_26862062_26954208 | 26895826 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0263a0001c0002t0001g0005a0001c0002t0001g0089 | 4 | 376 | 0.0106 | 11 | c.497 others(30): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRA5_chr15_26862062_26954208 | 26930006 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034a0001c0001t0001g0052a0001c0001t0001g0059others(19): Show | 22 | 376 | 0.0585 | 11 | c.581 others(28): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRA5_chr15_26862062_26954208 | 26930012 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19003.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0098a0001c0002t0001g0297 | 2 | 376 | 0.0053 | 11 | c.581 others(28): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRA5_chr15_26862062_26954208 | 26930016 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0285 | 1 | 376 | 0.0027 | 11 | c.581 others(28): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47032073 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 158 | 0.0063 | 11 | c.172 others(24): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47175008 | C | CTCTTCCT others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 158 | 0.0063 | 11 | c.461 others(30): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47354980 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0149a0001c0001t0008g0017 | 2 | 158 | 0.0127 | 11 | c.544 others(30): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB2_chr5_161283436_161551725 | 161289232 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG01074.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(9): Show | a0001c0001t0002g0047a0001c0001t0002g0048a0001c0001t0002g0095others(52): Show | 56 | 266 | 0.2105 | 11 | c.*48 others(22): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 10/10 | 4848 | chr5 | TogoVar | |||||
GABRB2_chr5_161283436_161551725 | 161327076 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 266 | 0.0038 | 11 | c.107 others(28): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 8/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161393299 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0223 | 1 | 266 | 0.0038 | 11 | c.541 others(30): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0232 | 1 | 266 | 0.0038 | 11 | c.459 others(28): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161429345 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 266 | 0.0038 | 11 | c.459 others(30): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161429357 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0243a0001c0001t0006g0244 | 2 | 266 | 0.0075 | 11 | c.459 others(30): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161516035 | A | AAGCCTGG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 1 | 266 | 0.0038 | 11 | c.237 others(30): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0013a0001c0001t0002g0055a0001c0001t0002g0069others(12): Show | 15 | 204 | 0.0735 | 11 | c.108 others(30): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26586397 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0116 | 1 | 204 | 0.0049 | 11 | c.462 others(28): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26634985 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 204 | 0.0049 | 11 | c.241 others(30): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26635010 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00621.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0052a0001c0001t0001g0083a0001c0001t0001g0090others(29): Show | 32 | 204 | 0.1569 | 11 | c.241 others(30): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2018334 | A | AAATAACA others(4): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 364 | 0.0028 | 11 | c.-10 others(22): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 1010 | chr1 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2019281 | T | TGGGGCGG others(4): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 2 | 364 | 0.0055 | 11 | c.-14 others(20): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 63 | chr1 | TogoVar | ||||||
GABRG2_chr5_162062773_162160526 | 162105432 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03130.hp2 NA18941.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002a0001c0003t0003 | a0001c0002t0001g0020a0001c0002t0001g0098a0001c0002t0001g0116others(4): Show | 7 | 328 | 0.0213 | 11 | c.769 others(28): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 26968296 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0003a0001c0006a0001c0007 | a0001c0003t0037a0001c0006t0013a0001c0007t0036 | a0001c0003t0037g0018a0001c0006t0013g0017a0001c0007t0036g0016 | 3 | 92 | 0.0326 | 11 | c.-32 others(22): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2884 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27001888 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01070.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0015 | a0001c0001t0001a0001c0002t0001a0001c0002t0027others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0036a0001c0001t0001g0042others(11): Show | 14 | 92 | 0.1522 | 11 | c.202 others(30): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27145610 | T | TATCTATC others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 92 | 0.0109 | 11 | c.270 others(32): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27216771 | T | TTTATTTA others(4): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0037 | 1 | 92 | 0.0109 | 11 | c.271 others(32): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27250871 | T | TCCTGGCC others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG02922.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0009others(8): Show | a0001c0001t0001g0038a0001c0002t0006g0062a0001c0002t0009g0022others(9): Show | 12 | 92 | 0.1304 | 11 | c.271 others(30): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27369806 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0019a0001c0007t0001 | a0001c0003t0019g0064a0001c0007t0001g0048 | 2 | 92 | 0.0217 | 11 | c.574 others(30): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27388096 | A | AGGAAAGG others(4): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 92 | 0.0109 | 11 | c.574 others(30): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388191 | G | GAAAGGAA others(4): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 92 | 0.0109 | 11 | c.574 others(30): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27518195 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0058 | 1 | 92 | 0.0109 | 11 | c.713 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27532474 | A | AGAGTGGG others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01496.hp1 others(26): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0006a0001c0002t0016a0001c0002t0033others(18): Show | a0001c0002t0006g0052a0001c0002t0006g0062a0001c0002t0016g0012others(26): Show | 29 | 92 | 0.3152 | 11 | c.112 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GADD45GIP1_chr19_12948119_12962223 | 12962192 | A | ATTTCTTC others(4): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 372 | 0.0027 | 11 | c.-49 others(22): Show |
GADD45GIP1 | ENSG00000179271.3 | transcript | ENST00000316939.3 | protein_coding | 4970 | chr19 | TogoVar | ||||||
GADD45G_chr9_89600012_89611555 | 89609979 | A | AATATAAG others(4): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 452 | 0.0022 | 11 | c.*39 others(22): Show |
GADD45G | ENSG00000130222.11 | transcript | ENST00000252506.11 | protein_coding | 3425 | chr9 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30839514 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02976.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0220a0001c0001t0004g0064a0001c0001t0005g0207others(2): Show | 5 | 282 | 0.0177 | 11 | c.787 others(26): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
GAGE10_chrX_49298646_49324841 | 49318566 | T | TTTATTTA others(4): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 302 | 0.0033 | 11 | c.329 others(28): Show |
GAGE10 | ENSG00000215274.6 | transcript | ENST00000407599.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAK_chr4_844277_937316 | 895015 | A | AAATAAAT others(4): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 390 | 0.0026 | 11 | c.742 others(28): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 7/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 902596 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(39): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(11): Show | a0001c0001t0001g0078a0001c0001t0001g0086a0001c0004t0001g0016others(39): Show | 42 | 390 | 0.1077 | 11 | c.525 others(28): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 902605 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00642.hp1 others(21): Show |
a0001a0021 | a0001c0001a0001c0002a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0260a0001c0001t0002g0133a0001c0001t0002g0151others(21): Show | 24 | 390 | 0.0615 | 11 | c.525 others(28): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 902605 | A | AAAAAAAC others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02300.hp1 HG02486.hp2 others(14): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0024others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0024t0001others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0020others(14): Show | 17 | 390 | 0.0436 | 11 | c.525 others(28): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241786139 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0249 | 1 | 314 | 0.0032 | 11 | c.29+ others(26): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCCGCAGG others(4): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01106.hp2 HG01243.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0043a0001c0001t0001g0052others(16): Show | 20 | 314 | 0.0637 | 11 | c.*17 others(22): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCGGCAGG others(4): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 314 | 0.0032 | 11 | c.*17 others(22): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCTGCAGG others(4): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01943.hp1 HG02258.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0032a0001c0001t0001g0051a0001c0001t0001g0086others(16): Show | 19 | 314 | 0.0605 | 11 | c.*17 others(22): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar |