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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FUCA2_chr6_143489812_143516720 | 143516097 | T | TGGTGGGG others(33): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 444 | 0.0023 | 40 | c.-44 others(51): Show |
FUCA2 | ENSG00000001036.14 | transcript | ENST00000002165.11 | protein_coding | 4378 | chr6 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65692683 | A | AGGCGGAG others(33): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 374 | 0.0027 | 40 | c.835 others(59): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FXN_chr9_69030752_69084076 | 69037284 | A | AAAAGAAG others(33): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0356 | 1 | 432 | 0.0023 | 40 | c.165 others(57): Show |
FXN | ENSG00000165060.15 | transcript | ENST00000484259.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FXYD4_chr10_43366636_43381335 | 43367417 | C | CTATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG02896.hp1 NA18942.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0033 | 4 | 426 | 0.0094 | 40 | c.-45 others(51): Show |
FXYD4 | ENSG00000150201.15 | transcript | ENST00000476166.6 | protein_coding | 4218 | chr10 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757675 | T | TTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 380 | 0.0026 | 40 | c.109 others(59): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18992.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0056a0001c0001t0001g0220a0001c0001t0004g0132 | 3 | 380 | 0.0079 | 40 | c.109 others(59): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01981.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0144a0001c0001t0001g0210 | 3 | 380 | 0.0079 | 40 | c.109 others(59): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | NA18747.hp2 NA19010.hp1 NA19086.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0037a0001c0002t0001g0307 | 3 | 380 | 0.0079 | 40 | c.109 others(59): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG03017.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0182a0001c0001t0001g0203a0001c0001t0001g0241others(2): Show | 5 | 380 | 0.0132 | 40 | c.109 others(59): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 380 | 0.0026 | 40 | c.109 others(59): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197792577 | T | TTATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 NA18953.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016 | a0001c0001t0001g0136a0001c0001t0001g0156a0001c0001t0001g0193others(2): Show | 5 | 256 | 0.0195 | 40 | c.*10 others(53): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 4982 | chr3 | TogoVar | ||||||
G3BP2_chr4_75637786_75678411 | 75643295 | T | TTATATAT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0052 | a0001c0001t0007g0042a0001c0001t0007g0045a0001c0001t0007g0048others(4): Show | 7 | 330 | 0.0212 | 40 | c.*21 others(51): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 12/12 | 2134 | chr4 | TogoVar | |||||
GAA_chr17_80096581_80124881 | 80106419 | G | GCTGTGCA others(33): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19059.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0099a0004c0005t0002g0140 | 2 | 416 | 0.0048 | 40 | c.692 others(55): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GAB1_chr4_143331876_143479565 | 143373864 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02148.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0039a0001c0001t0027g0062 | 2 | 194 | 0.0103 | 40 | c.72+ others(57): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GAB1_chr4_143331876_143479565 | 143373868 | A | AATAAATA others(33): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 194 | 0.0052 | 40 | c.72+ others(57): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GAB1_chr4_143331876_143479565 | 143373868 | A | AATAAATA others(33): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 194 | 0.0052 | 40 | c.72+ others(57): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GAB2_chr11_78210293_78422820 | 78307614 | G | GAGAGAGA others(33): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0111 | 1 | 288 | 0.0035 | 40 | c.76- others(57): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98436288 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0117 | 1 | 164 | 0.0061 | 40 | c.123 others(61): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 7/18 | chr9 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98688394 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01516.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0013a0002c0008 | a0001c0013t0003a0002c0008t0007 | a0001c0013t0003g0066a0002c0008t0007g0059 | 2 | 164 | 0.0122 | 40 | c.321 others(59): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152286094 | A | AATAAGTT others(33): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG01891.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0172others(18): Show | 21 | 204 | 0.1029 | 40 | c.263 others(57): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 3/9 | chrX | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554125 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 204 | 0.0049 | 40 | c.108 others(59): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | ATAAAGTG others(33): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0081 | 1 | 204 | 0.0049 | 40 | c.108 others(59): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26606805 | T | TATAGATA others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0151 | 1 | 204 | 0.0049 | 40 | c.461 others(59): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26606805 | T | TATCGATA others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 204 | 0.0049 | 40 | c.461 others(59): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46117784 | G | GTGTATCT others(33): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0158 | 1 | 308 | 0.0033 | 40 | c.104 others(57): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46128321 | G | GATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0036 | 1 | 308 | 0.0033 | 40 | c.-44 others(51): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 4268 | chr4 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805214 | T | TCCCCCCT others(33): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 314 | 0.0032 | 40 | c.*10 others(51): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 928 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806424 | T | TCCCCCCT others(33): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 314 | 0.0032 | 40 | c.*22 others(51): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2138 | chr2 | TogoVar | ||||||
GAL3ST4_chr7_100154244_100173617 | 100172713 | A | ATATATAC others(33): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 402 | 0.0025 | 40 | c.-43 others(51): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 4097 | chr7 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87936896 | C | CTATATAT others(33): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18998.hp1 NA19067.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0281a0002c0004t0002g0287a0002c0004t0002g0290others(1): Show | 4 | 370 | 0.0108 | 40 | c.191 others(59): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 16/16 | chr14 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228682 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 348 | 0.0029 | 40 | c.267 others(57): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49299735 | T | TTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0210 | 1 | 348 | 0.0029 | 40 | c.967 others(57): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49299735 | T | TTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0173 | 1 | 348 | 0.0029 | 40 | c.967 others(57): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49299735 | T | TTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18946.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0004 | a0001c0001t0018g0119a0001c0002t0004g0183 | 2 | 348 | 0.0058 | 40 | c.967 others(57): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38686241 | T | TTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 328 | 0.0031 | 40 | c.553 others(57): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38686258 | T | TTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG00673.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0002a0001c0001t0011g0020 | 2 | 328 | 0.0061 | 40 | c.553 others(57): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNS_chr16_88808734_88861947 | 88834634 | G | GCCCCCCA others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 NA20905.hp2 |
a0006a0007 | a0006c0008a0007c0009 | a0006c0008t0003a0007c0009t0003 | a0006c0008t0003g0353a0007c0009t0003g0111 | 2 | 404 | 0.0050 | 40 | c.898 others(55): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154293614 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0023 | 1 | 236 | 0.0042 | 40 | c.160 others(57): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152107224 | G | GGAGCTCT others(33): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 284 | 0.0035 | 40 | c.713 others(55): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT14_chr2_30905467_31143440 | 31087477 | A | AAGGAGAG others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0018others(82): Show | 85 | 226 | 0.3761 | 40 | c.129 others(59): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31087489 | A | AGAGAGGA others(33): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG03579.hp2 |
a0003 | a0003c0007a0003c0008 | a0003c0007t0001a0003c0008t0001 | a0003c0007t0001g0082a0003c0008t0001g0083a0003c0008t0001g0084 | 3 | 226 | 0.0133 | 40 | c.129 others(59): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71162107 | T | TCCTCCCT others(33): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0015a0001c0001t0018g0016 | 2 | 76 | 0.0263 | 40 | c.238 others(59): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71319094 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 1 | 76 | 0.0132 | 40 | c.239 others(59): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71319096 | A | ATCTATCT others(33): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0068 | 1 | 76 | 0.0132 | 40 | c.239 others(59): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71319096 | A | ATCTATCT others(33): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0031a0001c0001t0003g0011a0001c0001t0004g0033others(7): Show | 10 | 76 | 0.1316 | 40 | c.239 others(59): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71377114 | A | AAAATATA others(33): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 | 1 | 76 | 0.0132 | 40 | c.423 others(59): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71693305 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0063 | 1 | 76 | 0.0132 | 40 | c.150 others(61): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71693309 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0040a0001c0001t0012g0012 | 2 | 76 | 0.0263 | 40 | c.150 others(61): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT2_chr1_230062238_230287122 | 230198476 | A | ACAGCAGC others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(18): Show | a0001c0001t0001g0315a0001c0001t0004g0163a0001c0001t0004g0215others(52): Show | 55 | 324 | 0.1698 | 40 | c.221 others(57): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132279987 | G | GATGCCCA others(33): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03225.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0081a0001c0005t0001g0088 | 2 | 183 | 0.0109 | 40 | c.419 others(57): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 2/10 | chr12 | TogoVar |