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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 17 | 0.0588 | 17 | c.459 others(34): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161429357 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01943.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0044a0001c0001t0055a0001c0003t0019 | a0001c0001t0044g0011 a0001c0001t0055g0133 a0001c0003t0019g0146 others(1): Show |
4 | 257 | 0.0156 | 17 | c.459 others(36): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554093 | G | GTATAAAG others(10): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01884.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0027others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0050 others(16): Show |
19 | 201 | 0.0945 | 17 | c.108 others(36): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26635010 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02300.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0183 a0001c0001t0002g0037 a0001c0001t0002g0108 |
3 | 35 | 0.0857 | 17 | c.241 others(36): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27001888 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0061 | 1 | 34 | 0.0294 | 17 | c.202 others(36): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27062434 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 NA19240.hp2 |
a0001 | a0001c0004a0001c0005a0001c0009 | a0001c0004t0030a0001c0005t0002a0001c0009t0002 | a0001c0004t0030g0063 a0001c0005t0002g0067 a0001c0009t0002g0089 |
3 | 33 | 0.0909 | 17 | c.270 others(36): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27307123 | A | AGGTTTAT others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0061 | 1 | 75 | 0.0133 | 17 | c.271 others(36): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27348155 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01496.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0021a0001c0002t0035others(6): Show | a0001c0001t0001g0073 a0001c0001t0021g0072 a0001c0002t0035g0019 others(7): Show |
10 | 42 | 0.2381 | 17 | c.574 others(36): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27518195 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0075 | 1 | 29 | 0.0345 | 17 | c.713 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR1_chr6_89172504_89222358 | 89196875 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02523.hp2 NA18966.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0019 others(1): Show |
4 | 22 | 0.1818 | 17 | c.572 others(34): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | TogoVar | |||||||
GAD2_chr10_26211774_26309558 | 26218551 | T | TCTCCACA others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 110 | 0.0091 | 17 | c.287 others(32): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30805734 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18984.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0083 a0001c0001t0003g0020 a0001c0001t0003g0071 others(1): Show |
4 | 71 | 0.0563 | 17 | c.105 others(36): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30839514 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01243.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0105 a0001c0001t0004g0107 a0001c0001t0004g0111 others(8): Show |
11 | 86 | 0.1279 | 17 | c.787 others(32): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
GAK_chr4_844277_937316 | 902596 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02572.hp2 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0003a0003c0006t0001 | a0001c0002t0003g0259 a0003c0006t0001g0162 |
2 | 185 | 0.0108 | 17 | c.525 others(34): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | |||||||
GAL3ST1_chr22_30549635_30579665 | 30574607 | G | GCCGCGCC others(10): Show |
5_prime_UTR_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0316 | 1 | 449 | 0.0022 | 17 | c.-27 others(26): Show |
GAL3ST1 | ENSG00000128242.13 | transcript | ENST00000406361.6 | protein_coding | 1/4 | 17216 | chr22 | TogoVar | ||||||
GAL3ST4_chr7_100154244_100173617 | 100172465 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 HG03654.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 a0002c0002t0001g0033 |
2 | 391 | 0.0051 | 17 | c.-41 others(28): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 3849 | chr7 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0078 | 1 | 136 | 0.0074 | 17 | c.267 others(34): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703092 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0112 a0002c0002t0001g0276 |
2 | 248 | 0.0081 | 17 | c.634 others(36): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703092 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 247 | 0.0040 | 17 | c.634 others(36): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703092 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 | 1 | 247 | 0.0040 | 17 | c.634 others(36): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703093 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18961.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0095 |
2 | 287 | 0.0070 | 17 | c.634 others(36): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154378315 | T | TTATCATC others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0119 | 1 | 234 | 0.0043 | 17 | c.754 others(34): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154396332 | G | GCATCCAC others(10): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0070 | 1 | 234 | 0.0043 | 17 | c.105 others(36): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154410955 | T | TGAACTGC others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0026 | 1 | 234 | 0.0043 | 17 | c.138 others(36): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152113712 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 9 | 0.1111 | 17 | c.123 others(34): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT12_chr9_98802670_98855081 | 98821624 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(72): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(8): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(68): Show |
75 | 155 | 0.4839 | 17 | c.372 others(34): Show |
GALNT12 | ENSG00000119514.7 | transcript | ENST00000375011.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31038085 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02004.hp2 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0095 others(6): Show |
9 | 188 | 0.0479 | 17 | c.130 others(36): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16232518 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 380 | 0.0026 | 17 | c.*50 others(28): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2354 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 105 | 0.0095 | 17 | c.*55 others(28): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69264819 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG01934.hp2 others(14): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0150 a0001c0001t0001g0153 others(14): Show |
17 | 40 | 0.4250 | 17 | c.177 others(34): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71131833 | G | GCGCGCGT others(10): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 76 | 0.0132 | 17 | c.-97 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 310 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71297526 | G | GGCTGAAG others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00735.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0041 a0001c0001t0003g0001 a0001c0001t0005g0051 others(18): Show |
21 | 76 | 0.2763 | 17 | c.239 others(36): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269280 | T | TTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0006 | 1 | 258 | 0.0039 | 17 | c.*18 others(28): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1596 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11620336 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 258 | 0.0039 | 17 | c.235 others(34): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
GALNT2_chr1_230062238_230287122 | 230092185 | T | TGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0283 | 1 | 108 | 0.0093 | 17 | c.126 others(36): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
GALNT2_chr1_230062238_230287122 | 230222031 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(98): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0153 others(98): Show |
101 | 172 | 0.5872 | 17 | c.375 others(36): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0229 | 1 | 173 | 0.0058 | 17 | c.-15 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0005 | a0002c0005t0039 | a0002c0005t0039g0168 | 1 | 173 | 0.0058 | 17 | c.-15 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0169 | 1 | 173 | 0.0058 | 17 | c.-15 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132295810 | G | GGAACAGG others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(18): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 others(63): Show |
66 | 182 | 0.3626 | 17 | c.239 others(34): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132296036 | A | AAACAGGG others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0014a0001c0025 | a0001c0001t0001a0001c0014t0003a0001c0025t0012 | a0001c0001t0001g0094 a0001c0014t0003g0074 a0001c0014t0003g0153 others(1): Show |
4 | 181 | 0.0221 | 17 | c.239 others(34): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNTL5_chr7_151951446_152024929 | 151990580 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(113): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0019others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(112): Show |
116 | 119 | 0.9748 | 17 | c.658 others(34): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172504159 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0031 | 1 | 35 | 0.0286 | 17 | c.553 others(38): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172552837 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 11 | 0.0909 | 17 | c.553 others(38): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALT_chr9_34641675_34656035 | 34644352 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 55 | 0.0182 | 17 | c.-23 others(28): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2322 | chr9 | TogoVar | |||||||
GAPVD1_chr9_125256826_125372207 | 125286791 | A | ATTTTCTT others(10): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0336 | 1 | 338 | 0.0030 | 17 | c.-14 others(36): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125291709 | G | GACCCATA others(10): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 338 | 0.0030 | 17 | c.-14 others(36): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125293854 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0133 | 1 | 325 | 0.0031 | 17 | c.-14 others(36): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125293856 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0187 |
2 | 337 | 0.0059 | 17 | c.-14 others(36): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125300023 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18612.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0272 a0001c0001t0001g0281 |
3 | 221 | 0.0136 | 17 | c.185 others(32): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |