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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRA1_chr5_161843120_161904971 | 161850081 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 394 | 0.0025 | 22 | c.-15 others(37): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46249034 | A | ATGTGTGT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00738.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0022a0001c0001t0024a0001c0001t0029others(9): Show | a0001c0001t0022g0085 a0001c0001t0022g0088 a0001c0001t0024g0112 others(13): Show |
16 | 258 | 0.0620 | 22 | c.*12 others(33): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 10/10 | 1273 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46264986 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01515.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0018others(17): Show | a0001c0001t0007g0086 a0001c0001t0008g0082 a0001c0001t0018g0054 others(18): Show |
21 | 258 | 0.0814 | 22 | c.857 others(39): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46297476 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01884.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0020a0001c0001t0025others(4): Show | a0001c0001t0010g0108 a0001c0001t0020g0064 a0001c0001t0025g0121 others(4): Show |
7 | 258 | 0.0271 | 22 | c.856 others(39): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA4_chr4_46913900_46998581 | 46991721 | A | ACTCGTTA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0145 a0001c0001t0001g0278 a0001c0001t0001g0290 others(202): Show |
222 | 370 | 0.6000 | 22 | c.205 others(39): Show |
GABRA4 | ENSG00000109158.11 | transcript | ENST00000264318.4 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
GABRB1_chr4_47026567_47431447 | 47155916 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG04204.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0088 a0001c0001t0009g0046 |
2 | 158 | 0.0127 | 22 | c.241 others(39): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161341937 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 266 | 0.0038 | 22 | c.542 others(39): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161359440 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01496.hp2 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0012 | a0001c0002t0011g0247 a0001c0002t0012g0078 a0001c0002t0012g0246 |
3 | 266 | 0.0113 | 22 | c.542 others(41): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00738.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0037 a0001c0001t0001g0106 a0001c0001t0001g0118 others(25): Show |
28 | 266 | 0.1053 | 22 | c.459 others(39): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554017 | C | CTATGTAT others(15): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 204 | 0.0049 | 22 | c.108 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554021 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 | 1 | 204 | 0.0049 | 22 | c.108 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554021 | T | TTTTATAT others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096 a0001c0001t0005g0127 a0001c0001t0005g0151 |
3 | 204 | 0.0147 | 22 | c.108 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554039 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 204 | 0.0049 | 22 | c.108 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554176 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01993.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0012 | a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0080 others(7): Show |
10 | 204 | 0.0490 | 22 | c.108 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554207 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02559.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0029 | a0001c0001t0002g0032 a0001c0001t0002g0140 a0001c0001t0003g0143 others(1): Show |
4 | 204 | 0.0196 | 22 | c.108 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554207 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0030 |
2 | 204 | 0.0098 | 22 | c.108 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26586397 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02965.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0014a0001c0005t0016 | a0001c0001t0008g0190 a0001c0001t0014g0196 a0001c0005t0016g0193 |
3 | 204 | 0.0147 | 22 | c.462 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26619917 | C | CACACACC others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01071.hp1 HG01257.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0164 others(30): Show |
33 | 204 | 0.1618 | 22 | c.461 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26649658 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 204 | 0.0049 | 22 | c.241 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26680490 | C | CTTGGTGT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(65): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0080 a0001c0001t0001g0100 a0001c0001t0001g0112 others(65): Show |
68 | 204 | 0.3333 | 22 | c.241 others(41): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2028348 | C | CCGCCGCC others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0141 | 1 | 364 | 0.0028 | 22 | c.691 others(35): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46118132 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0054 |
3 | 308 | 0.0097 | 22 | c.104 others(39): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27062434 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(1): Show | a0001c0001t0001g0042 a0001c0001t0012g0025 a0001c0002t0001g0046 others(1): Show |
4 | 92 | 0.0435 | 22 | c.270 others(41): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27174584 | G | GTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0037 | 1 | 92 | 0.0109 | 22 | c.270 others(43): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27313262 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 92 | 0.0109 | 22 | c.271 others(41): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27348155 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0018 | 1 | 92 | 0.0109 | 22 | c.574 others(41): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89280247 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 366 | 0.0027 | 22 | c.221 others(39): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GAD1_chr2_170811887_170866151 | 170828555 | A | ACCTCTGC others(15): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 412 | 0.0024 | 22 | c.146 others(37): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD2_chr10_26211774_26309558 | 26295508 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01070.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0042 others(6): Show |
9 | 294 | 0.0306 | 22 | c.158 others(41): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GADD45A_chr1_67680201_67693334 | 67682506 | A | AATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 404 | 0.0025 | 22 | c.-29 others(33): Show |
GADD45A | ENSG00000116717.13 | transcript | ENST00000370986.9 | protein_coding | 2694 | chr1 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30805734 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02148.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0033 | a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0095 others(4): Show |
7 | 282 | 0.0248 | 22 | c.105 others(41): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30867423 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 282 | 0.0036 | 22 | c.38- others(37): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30867439 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01243.hp1 others(10): Show |
a0001a0011 | a0001c0001a0011c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0090 others(10): Show |
13 | 282 | 0.0461 | 22 | c.38- others(37): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30895247 | T | TTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | NA18984.hp1 NA18993.hp1 NA19077.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061 a0001c0001t0003g0019 a0001c0001t0003g0060 others(1): Show |
4 | 282 | 0.0142 | 22 | c.-63 others(31): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 587 | chr3 | TogoVar | |||||||
GAL3ST1_chr22_30549635_30579665 | 30574711 | A | ACCCCTCC others(15): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 452 | 0.0022 | 22 | c.-36 others(31): Show |
GAL3ST1 | ENSG00000128242.13 | transcript | ENST00000406361.6 | protein_coding | 47 | chr22 | TogoVar | |||||||
GAL3ST1_chr22_30549635_30579665 | 30574728 | G | GCCGGCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(158): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0014others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0014t0001others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(115): Show |
161 | 452 | 0.3562 | 22 | c.-38 others(31): Show |
GAL3ST1 | ENSG00000128242.13 | transcript | ENST00000406361.6 | protein_coding | 64 | chr22 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241786137 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0239 | 1 | 314 | 0.0032 | 22 | c.29+ others(37): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87936896 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01123.hp2 HG03139.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0002a0005c0007t0002 | a0001c0001t0001g0063 a0001c0001t0001g0088 a0001c0001t0001g0095 others(5): Show |
8 | 370 | 0.0216 | 22 | c.191 others(41): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 16/16 | chr14 | TogoVar | |||||||
GALK1_chr17_75752894_75770192 | 75768239 | A | AAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 452 | 0.0022 | 22 | c.-31 others(33): Show |
GALK1 | ENSG00000108479.13 | transcript | ENST00000588479.6 | protein_coding | 3048 | chr17 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49178195 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0162 | 1 | 348 | 0.0029 | 22 | c.53+ others(37): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0189 | 1 | 348 | 0.0029 | 22 | c.267 others(39): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03491.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0174 a0001c0002t0004g0195 |
2 | 348 | 0.0058 | 22 | c.267 others(39): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0194 | 1 | 348 | 0.0029 | 22 | c.267 others(39): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0192 | 1 | 348 | 0.0029 | 22 | c.267 others(39): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703054 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03834.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0096 a0002c0002t0001g0283 |
2 | 328 | 0.0061 | 22 | c.634 others(41): 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(15): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0262 | 1 | 328 | 0.0031 | 22 | c.634 others(41): 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(15): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 328 | 0.0031 | 22 | c.634 others(41): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152047687 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 284 | 0.0035 | 22 | c.-39 others(41): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT12_chr9_98802670_98855081 | 98854816 | T | TTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0133 | 1 | 376 | 0.0027 | 22 | c.*57 others(33): Show |
GALNT12 | ENSG00000119514.7 | transcript | ENST00000375011.4 | protein_coding | 4736 | chr9 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 153884766 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0034 | a0001c0001t0009g0102 a0001c0001t0034g0118 |
2 | 214 | 0.0094 | 22 | c.-17 others(43): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |