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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRA5_chr15_26862062_26954208 | 26911388 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 376 | 0.0027 | 30 | c.498 others(47): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47125559 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01361.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0009g0046 |
3 | 158 | 0.0190 | 30 | c.241 others(49): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47246371 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0005 | a0001c0001t0004g0025 a0001c0003t0005g0026 |
2 | 158 | 0.0127 | 30 | c.462 others(49): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01358.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0255 |
2 | 266 | 0.0075 | 30 | c.459 others(47): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554021 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0107 a0001c0001t0006g0128 a0001c0001t0008g0056 |
3 | 204 | 0.0147 | 30 | c.108 others(49): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554039 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00673.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0013 a0001c0001t0002g0069 a0001c0001t0002g0113 others(6): Show |
9 | 204 | 0.0441 | 30 | c.108 others(49): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554043 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 204 | 0.0049 | 30 | c.108 others(49): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554176 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02896.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0034 | a0001c0001t0001g0188 a0001c0001t0015g0197 a0001c0001t0034g0203 |
3 | 204 | 0.0147 | 30 | c.108 others(49): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 204 | 0.0049 | 30 | c.108 others(49): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | ATAAAGTG others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0190 | 1 | 204 | 0.0049 | 30 | c.108 others(49): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46118132 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0298 a0001c0002t0007g0299 |
2 | 308 | 0.0065 | 30 | c.104 others(47): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46128321 | G | GATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0012 | a0001c0002t0004g0025 a0001c0002t0004g0038 a0001c0002t0012g0021 |
3 | 308 | 0.0097 | 30 | c.-44 others(41): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 4268 | chr4 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27265882 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 NA19030.hp2 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0019a0001c0005t0005 | a0001c0002t0001g0009 a0001c0003t0019g0064 a0001c0005t0005g0045 |
3 | 92 | 0.0326 | 30 | c.271 others(49): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27307595 | A | ATATTTAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18522.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0002a0001c0007t0004 | a0001c0005t0002g0055 a0001c0007t0004g0056 |
2 | 92 | 0.0217 | 30 | c.271 others(49): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292830 | G | GTATATAC others(23): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 1 | 366 | 0.0027 | 30 | c.220 others(47): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30867439 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02132.hp1 HG03491.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0261 others(4): Show |
7 | 282 | 0.0248 | 30 | c.38- others(45): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30895247 | T | TTGTGTGT others(23): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0058 a0001c0001t0004g0117 |
2 | 282 | 0.0071 | 30 | c.-63 others(39): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 587 | chr3 | TogoVar | |||||||
GAGE12H_chrX_49574949_49592301 | 49591724 | T | TAGTACTG others(23): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(113): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(89): Show |
116 | 116 | 1.0000 | 30 | c.*45 others(41): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4424 | chrX | TogoVar | |||||||
GAGE2A_chrX_49584496_49601824 | 49591724 | T | TAGTACTG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0001others(15): Show | a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0011 others(88): Show |
126 | 130 | 0.9692 | 30 | c.202 others(45): Show |
GAGE2A | ENSG00000189064.9 | transcript | ENST00000362097.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAK_chr4_844277_937316 | 894256 | G | GCGCAGGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(75): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0004a0001c0008others(15): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(16): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(75): Show |
78 | 390 | 0.2000 | 30 | c.742 others(45): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 7/27 | chr4 | TogoVar | |||||||
GALC_chr14_87928014_87998182 | 87936896 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02165.hp1 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0313 others(2): Show |
5 | 370 | 0.0135 | 30 | c.191 others(49): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 16/16 | chr14 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49228682 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03453.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0165 a0001c0001t0002g0166 |
3 | 348 | 0.0086 | 30 | c.267 others(47): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228682 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03486.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0048 | a0001c0001t0002g0077 a0001c0005t0048g0064 |
2 | 348 | 0.0058 | 30 | c.267 others(47): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154293613 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0233 | 1 | 236 | 0.0042 | 30 | c.160 others(47): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 153884766 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0068 | a0001c0001t0011g0001 a0001c0001t0068g0177 |
2 | 214 | 0.0094 | 30 | c.-17 others(51): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02273.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027 | a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0027g0014 |
3 | 214 | 0.0140 | 30 | c.142 others(49): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269904 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0006 | 1 | 214 | 0.0047 | 30 | c.975 others(49): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG01952.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0025 a0001c0001t0004g0189 a0001c0001t0005g0117 others(12): Show |
15 | 214 | 0.0701 | 30 | c.975 others(49): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(9): Show |
12 | 214 | 0.0561 | 30 | c.975 others(49): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298430 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0146 a0001c0001t0005g0101 a0001c0001t0009g0126 others(2): Show |
5 | 214 | 0.0234 | 30 | c.976 others(47): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30989560 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0093 |
2 | 226 | 0.0089 | 30 | c.299 others(47): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31087477 | A | AAGGAGAG others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0021 a0001c0001t0001g0117 a0001c0001t0001g0123 others(2): Show |
5 | 226 | 0.0221 | 30 | c.129 others(49): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69345703 | A | AGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0130 | 1 | 306 | 0.0033 | 30 | c.127 others(49): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71201239 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02895.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0001 a0001c0001t0005g0054 a0001c0001t0007g0055 others(1): Show |
4 | 76 | 0.0526 | 30 | c.238 others(49): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71265118 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 76 | 0.0132 | 30 | c.239 others(49): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71592544 | A | AATAAAAT others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0032 a0001c0002t0003g0006 |
2 | 76 | 0.0263 | 30 | c.108 others(51): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71693307 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0056 | 1 | 76 | 0.0132 | 30 | c.150 others(51): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11625115 | C | CTCCTGCC others(23): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02886.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0014a0001c0002t0002others(3): Show | a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0014g0095 others(6): Show |
9 | 260 | 0.0346 | 30 | c.-35 others(41): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 3111 | chr11 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0248 | 1 | 282 | 0.0036 | 30 | c.174 others(49): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03516.hp1 NA19043.hp1 |
a0001a0002a0004 | a0001c0002a0002c0005a0004c0006 | a0001c0002t0066a0002c0005t0002a0004c0006t0014 | a0001c0002t0066g0096 a0002c0005t0002g0198 a0004c0006t0014g0168 |
3 | 282 | 0.0106 | 30 | c.174 others(49): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0064 | a0002c0005t0064g0203 | 1 | 282 | 0.0036 | 30 | c.174 others(49): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0087 | a0001c0002t0087g0259 | 1 | 282 | 0.0036 | 30 | c.174 others(49): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132198427 | C | CGGGGCTG others(23): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 183 | 0.0055 | 30 | c.149 others(47): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172058113 | G | GTTGTTTT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 40 | 0.0250 | 30 | c.139 others(51): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172177785 | A | ATGTGTAT others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 40 | 0.0250 | 30 | c.139 others(49): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172528952 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02145.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0040 others(2): Show |
5 | 40 | 0.1250 | 30 | c.553 others(51): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252998 | C | CCATCACC others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0005 | a0003c0005t0045 | a0003c0005t0045g0046 | 1 | 366 | 0.0027 | 30 | c.666 others(47): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259287 | G | GTGGTCAT others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0126 | 1 | 366 | 0.0027 | 30 | c.732 others(47): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77281062 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(18): Show | a0001c0001t0003g0266 a0001c0001t0003g0285 a0001c0001t0005g0289 others(22): Show |
25 | 366 | 0.0683 | 30 | c.*12 others(43): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3163 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77281090 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 366 | 0.0027 | 30 | c.*12 others(43): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3191 | chr18 | TogoVar |