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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FUT8_chr14_65407730_65749121 | 65699145 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | HG00642.hp1 NA19070.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0026a0002c0003t0001g0355 | 2 | 374 | 0.0054 | -28 | c.836 others(47): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FXYD1_chr19_35133824_35148109 | 35148026 | GGAAAGAA others(21): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02027.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0046others(1): Show | 6 | 408 | 0.0147 | -28 | c.*51 others(39): Show |
FXYD1 | ENSG00000266964.6 | transcript | ENST00000351325.9 | protein_coding | 4918 | chr19 | TogoVar | ||||||
FXYD2_chr11_117815057_117829744 | 117826770 | GTCTGTCT others(21): Show |
G | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 482 | 0.0021 | -28 | c.-21 others(39): Show |
FXYD2 | ENSG00000137731.14 | transcript | ENST00000292079.7 | protein_coding | 2027 | chr11 | TogoVar | ||||||
FXYD2_chr11_117815057_117829744 | 117827079 | AATAGAGA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0015others(12): Show | 72 | 482 | 0.1494 | -28 | c.-24 others(39): Show |
FXYD2 | ENSG00000137731.14 | transcript | ENST00000292079.7 | protein_coding | 2336 | chr11 | TogoVar | ||||||
FXYD6_chr11_117831981_117881658 | 117858631 | TTTTCTTT others(21): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0400 | 1 | 430 | 0.0023 | -28 | c.-5- others(45): Show |
FXYD6 | ENSG00000137726.17 | transcript | ENST00000526014.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
FXYD7_chr19_35138255_35159302 | 35148026 | GGAAAGAA others(21): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02027.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0243others(3): Show | 6 | 444 | 0.0135 | -28 | c.32- others(41): Show |
FXYD7 | ENSG00000221946.8 | transcript | ENST00000270310.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FYB1_chr5_39100252_39224563 | 39182287 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0075 | 1 | 326 | 0.0031 | -28 | c.113 others(49): Show |
FYB1 | ENSG00000082074.19 | transcript | ENST00000512982.4 | protein_coding | 2/18 | chr5 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757707 | TTTCTTTC others(21): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01192.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0003others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0096a0001c0001t0001g0119others(25): Show | 30 | 380 | 0.0790 | -28 | c.109 others(46): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYCO1_chr3_45912903_46000824 | 45977350 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
a0001a0022 | a0001c0002a0001c0006a0001c0012others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0008others(7): Show | a0001c0002t0002g0023a0001c0002t0002g0091a0001c0002t0004g0002others(16): Show | 27 | 336 | 0.0804 | -28 | c.289 others(45): Show |
FYCO1 | ENSG00000163820.16 | transcript | ENST00000296137.7 | protein_coding | 4/17 | chr3 | TogoVar | ||||||
FYN_chr6_111655332_111878452 | 111797665 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01069.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0099a0001c0001t0001g0115a0001c0001t0001g0130others(55): Show | 58 | 234 | 0.2479 | -28 | c.-81 others(47): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
FYN_chr6_111655332_111878452 | 111797685 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 234 | 0.0043 | -28 | c.-81 others(47): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197760364 | GTGTTCTT others(21): Show |
G | intron_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054 | 1 | 256 | 0.0039 | -28 | c.235 others(45): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FYTTD1_chr3_197744883_197792596 | 197760480 | AGTTCTTC others(21): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0023a0001c0003t0024 | a0001c0003t0008g0012a0001c0003t0008g0086a0001c0003t0008g0087others(2): Show | 6 | 256 | 0.0234 | -28 | c.235 others(45): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FYTTD1_chr3_197744883_197792596 | 197780002 | ACAGGCAC others(21): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02976.hp2 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0017a0002c0002t0049 | a0002c0002t0017g0091a0002c0002t0017g0092a0002c0002t0049g0090 | 3 | 256 | 0.0117 | -28 | c.858 others(45): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GAA_chr17_80096581_80124881 | 80104448 | CTGGGTGC others(21): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0062 | 1 | 416 | 0.0024 | -28 | c.-32 others(42): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GAB2_chr11_78210293_78422820 | 78309947 | TGTGTGTG others(21): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0013a0001c0005t0040 | a0001c0005t0013g0127a0001c0005t0013g0130a0001c0005t0013g0131others(1): Show | 4 | 288 | 0.0139 | -28 | c.76- others(45): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78346674 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02647.hp1 HG02818.hp2 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0050a0001c0003t0008a0001c0004t0006others(3): Show | a0001c0001t0050g0259a0001c0003t0008g0228a0001c0004t0006g0125others(6): Show | 9 | 288 | 0.0313 | -28 | c.76- others(45): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GABBR1_chr6_29597238_29638183 | 29619658 | ATCCCTGT others(21): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(30): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0002a0001c0003t0004a0001c0003t0010others(3): Show | a0001c0003t0002g0016a0001c0003t0002g0064a0001c0003t0002g0065others(20): Show | 33 | 407 | 0.0811 | -28 | c.132 others(47): Show |
GABBR1 | ENSG00000204681.11 | transcript | ENST00000377034.9 | protein_coding | 11/22 | chr6 | TogoVar | ||||||
GABBR1_chr6_29597238_29638183 | 29633966 | GGTGTGTG others(21): Show |
G | upstream_gene_variant | MODIFIER | HG03540.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0046a0001c0002t0003g0198 | 2 | 407 | 0.0049 | -28 | c.-11 others(39): Show |
GABBR1 | ENSG00000204681.11 | transcript | ENST00000377034.9 | protein_coding | 784 | chr6 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98436348 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0009 | 1 | 164 | 0.0061 | -28 | c.123 others(49): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 7/18 | chr9 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98436380 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0057 | 1 | 164 | 0.0061 | -28 | c.123 others(49): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 7/18 | chr9 | TogoVar | ||||||
GABPB1_chr15_50270389_50360198 | 50337075 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02071.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0207a0001c0001t0001g0223others(2): Show | 5 | 366 | 0.0137 | -28 | c.-1+ others(45): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152212304 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0143others(6): Show | 9 | 204 | 0.0441 | -28 | c.635 others(45): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 6/9 | chrX | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152360723 | AATTAAAA others(21): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG01496.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0101a0001c0001t0001g0109a0001c0001t0001g0135others(15): Show | 18 | 204 | 0.0882 | -28 | c.140 others(45): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47195441 | TAGATGAT others(21): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02027.hp2 HG02040.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0110a0001c0001t0004g0106a0001c0001t0005g0149others(7): Show | 10 | 158 | 0.0633 | -28 | c.461 others(47): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47195445 | TGATAGAT others(21): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0132 | 1 | 158 | 0.0063 | -28 | c.461 others(47): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47246337 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02965.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0037a0001c0001t0001g0156a0001c0001t0002g0040others(1): Show | 4 | 158 | 0.0253 | -28 | c.462 others(47): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB2_chr5_161283436_161551725 | 161463549 | TTTTATTT others(21): Show |
T | intron_variant | MODIFIER | NA19000.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139a0001c0001t0002g0179 | 2 | 266 | 0.0075 | -28 | c.238 others(45): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764169 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0190 | 1 | 204 | 0.0049 | -28 | c.240 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764171 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01993.hp2 HG02300.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0061a0001c0001t0002g0037a0001c0001t0004g0034others(2): Show | 5 | 204 | 0.0245 | -28 | c.240 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764173 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02293.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0065a0001c0001t0002g0032a0001c0001t0003g0143others(4): Show | 7 | 204 | 0.0343 | -28 | c.240 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764175 | AAAAAATA others(21): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp2 HG01516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0080a0001c0001t0002g0069others(1): Show | 4 | 204 | 0.0196 | -28 | c.240 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764177 | AAAATATA others(21): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0035 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0077others(1): Show | 4 | 204 | 0.0196 | -28 | c.240 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764179 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 204 | 0.0049 | -28 | c.240 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27145115 | AGGAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01099.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(16): Show | a0001c0001t0001g0021a0001c0001t0001g0071a0001c0001t0001g0091others(20): Show | 23 | 92 | 0.2500 | -28 | c.270 others(49): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27306633 | TATATTTA others(21): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0058 | 1 | 92 | 0.0109 | -28 | c.271 others(47): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27306636 | ATTTATAT others(21): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 92 | 0.0109 | -28 | c.271 others(47): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307261 | TTATATGT others(21): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 92 | 0.0109 | -28 | c.271 others(47): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRR2_chr6_89249464_89320299 | 89280211 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027 | a0001c0001t0003g0049a0001c0001t0027g0048 | 2 | 366 | 0.0055 | -28 | c.221 others(45): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170861931 | TTGTGTGT others(21): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03195.hp2 |
a0001 | a0001c0004a0001c0013 | a0001c0004t0001a0001c0013t0001 | a0001c0004t0001g0118a0001c0013t0001g0117 | 2 | 412 | 0.0049 | -28 | c.*20 others(39): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 781 | chr2 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30867423 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0010a0003c0004t0001g0098 | 2 | 282 | 0.0071 | -28 | c.38- others(43): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
GAGE13_chrX_49326582_49343949 | 49337667 | TTTATTTA others(21): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01167.hp1 others(16): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0002c0002t0006a0007c0007t0001 | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0012others(8): Show | 19 | 93 | 0.2043 | -28 | c.332 others(45): Show |
GAGE13 | ENSG00000274274.2 | transcript | ENST00000612958.2 | protein_coding | 4/4 | chrX | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49178294 | CATGTACA others(21): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0002g0009others(25): Show | 28 | 348 | 0.0805 | -28 | c.53+ others(43): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49192485 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0069 | 1 | 348 | 0.0029 | -28 | c.54- others(43): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49277137 | ATTTTTTT others(21): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0003t0008 | a0001c0001t0001g0308a0001c0001t0008g0032a0001c0001t0008g0033others(9): Show | 12 | 348 | 0.0345 | -28 | c.505 others(45): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38675525 | TGTTTTTT others(21): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0197a0001c0001t0016g0169 | 2 | 328 | 0.0061 | -28 | c.191 others(43): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38686220 | ATTTCTTT others(21): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02055.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0009a0002c0002t0012others(3): Show | a0002c0002t0006g0232a0002c0002t0009g0001a0002c0002t0009g0231others(9): Show | 12 | 328 | 0.0366 | -28 | c.553 others(45): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703054 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0324 | 1 | 328 | 0.0031 | -28 | c.634 others(47): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703070 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0012a0002c0002t0018others(1): Show | a0002c0002t0009g0001a0002c0002t0009g0231a0002c0002t0009g0237others(5): Show | 8 | 328 | 0.0244 | -28 | c.634 others(47): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154371561 | TGTACACA others(21): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0004 | a0001c0004t0038 | a0001c0004t0038g0063 | 1 | 236 | 0.0042 | -28 | c.569 others(45): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | chr5 | TogoVar |