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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRD_chr1_2014345_2035758 | 2018334 | A | AATAACAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01175.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(13): Show |
18 | 364 | 0.0495 | 15 | c.-10 others(26): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 1010 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2018380 | A | ATAACATA others(8): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 364 | 0.0028 | 15 | c.-10 others(26): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 964 | chr1 | TogoVar | |||||||
GABRG2_chr5_162062773_162160526 | 162105432 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0269 | 1 | 328 | 0.0031 | 15 | c.769 others(32): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 26968296 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0074 | 1 | 92 | 0.0109 | 15 | c.-32 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2884 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27145610 | T | TATCTATC others(8): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0015 | a0002c0015t0020 | a0002c0015t0020g0031 | 1 | 92 | 0.0109 | 15 | 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 | 27307261 | T | TATAACCA others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0011a0001c0006t0013 | a0001c0004t0011g0078 a0001c0006t0013g0017 |
2 | 92 | 0.0217 | 15 | c.271 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27348155 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01109.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0009others(9): Show | a0001c0001t0001g0077 a0001c0001t0004g0007 a0001c0002t0009g0022 others(9): Show |
12 | 92 | 0.1304 | 15 | c.574 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27369806 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0007 | a0001c0007t0036 | a0001c0007t0036g0016 | 1 | 92 | 0.0109 | 15 | c.574 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89280211 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 366 | 0.0027 | 15 | c.221 others(32): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89292850 | A | ATATCATA others(8): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0059 | 1 | 366 | 0.0027 | 15 | c.220 others(32): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GABRR3_chr3_97980102_98040315 | 98026606 | T | TCATCATC others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01070.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0186 a0001c0001t0001g0191 others(24): Show |
28 | 382 | 0.0733 | 15 | c.126 others(30): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 2/9 | chr3 | TogoVar | |||||||
GABRR3_chr3_97980102_98040315 | 98032063 | C | CATAGTAT others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03579.hp2 NA19004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0068 a0001c0001t0002g0162 a0001c0001t0002g0163 others(2): Show |
5 | 382 | 0.0131 | 15 | c.125 others(32): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 2/9 | chr3 | TogoVar | |||||||
GAD2_chr10_26211774_26309558 | 26255550 | T | TTTCGCTA others(8): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 294 | 0.0034 | 15 | c.920 others(32): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GAD2_chr10_26211774_26309558 | 26291430 | A | AAGAAGTG others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02280.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0013a0001c0003t0005others(1): Show | a0001c0001t0005g0108 a0001c0001t0005g0128 a0001c0001t0005g0215 others(17): Show |
20 | 294 | 0.0680 | 15 | c.138 others(34): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30748485 | G | GCCGGAAT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0077 a0001c0001t0007g0102 a0001c0001t0007g0107 others(4): Show |
7 | 282 | 0.0248 | 15 | c.139 others(36): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30839514 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 282 | 0.0036 | 15 | c.787 others(30): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
GAK_chr4_844277_937316 | 902596 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00735.hp1 others(15): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(5): Show | a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0002t0001g0183 others(15): Show |
18 | 390 | 0.0462 | 15 | c.525 others(32): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 920539 | A | AATTTTTT others(8): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 390 | 0.0026 | 15 | c.146 others(32): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 920539 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18984.hp2 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 |
3 | 390 | 0.0077 | 15 | c.146 others(32): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCCGCAGG others(8): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 314 | 0.0032 | 15 | c.*17 others(26): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCCGCAGG others(8): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0037 | 1 | 314 | 0.0032 | 15 | c.*17 others(26): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCTGCAGG others(8): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 NA18990.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0013 a0003c0003t0001g0244 |
2 | 314 | 0.0064 | 15 | c.*17 others(26): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0033 a0001c0001t0008g0034 |
2 | 348 | 0.0058 | 15 | c.267 others(32): 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(8): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0001t0012g0262 a0001c0002t0003g0135 a0001c0002t0003g0138 others(7): Show |
10 | 348 | 0.0287 | 15 | c.967 others(32): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703092 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG03017.hp1 NA19012.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0065 a0002c0002t0001g0267 a0002c0002t0001g0273 |
3 | 328 | 0.0092 | 15 | c.634 others(34): 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(8): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18972.hp2 NA19000.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0010 | a0001c0001t0001g0078 a0002c0002t0001g0263 a0002c0002t0010g0187 |
3 | 328 | 0.0092 | 15 | c.634 others(34): 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(8): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0264 | 1 | 328 | 0.0031 | 15 | c.634 others(34): 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(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02080.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0084 others(5): Show |
8 | 328 | 0.0244 | 15 | c.634 others(34): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38708107 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01192.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0123 others(50): Show |
53 | 328 | 0.1616 | 15 | c.634 others(34): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38728686 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG03239.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0247 others(3): Show |
6 | 328 | 0.0183 | 15 | c.635 others(30): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154330908 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 236 | 0.0042 | 15 | c.568 others(32): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154330938 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0090 | 1 | 236 | 0.0042 | 15 | c.568 others(32): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154378317 | T | TATCATCA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00741.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0051 others(12): Show |
15 | 236 | 0.0636 | 15 | c.754 others(32): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT12_chr9_98802670_98855081 | 98821624 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 376 | 0.0027 | 15 | c.372 others(32): Show |
GALNT12 | ENSG00000119514.7 | transcript | ENST00000375011.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GALNT12_chr9_98802670_98855081 | 98854816 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 376 | 0.0027 | 15 | c.*57 others(26): Show |
GALNT12 | ENSG00000119514.7 | transcript | ENST00000375011.4 | protein_coding | 4736 | chr9 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 153872629 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0088 | 1 | 214 | 0.0047 | 15 | c.-17 others(32): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154225160 | T | TGATAGAT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18959.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0057 | a0001c0001t0026g0184 a0001c0001t0026g0185 a0001c0001t0057g0150 |
3 | 214 | 0.0140 | 15 | c.312 others(34): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298720 | T | TTGTATAT others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02559.hp1 HG02615.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0011a0001c0001t0023others(1): Show | a0001c0001t0003g0004 a0001c0001t0011g0093 a0001c0001t0023g0012 others(1): Show |
4 | 214 | 0.0187 | 15 | c.976 others(32): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154351682 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0072 | 1 | 214 | 0.0047 | 15 | c.115 others(36): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154394077 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0211 | 1 | 214 | 0.0047 | 15 | c.115 others(34): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154456191 | T | TTTGTTGT others(8): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01099.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 others(29): Show |
32 | 214 | 0.1495 | 15 | c.*56 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 2213 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31038085 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02922.hp1 NA18945.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0113 a0001c0001t0001g0168 a0001c0002t0002g0197 others(1): Show |
4 | 226 | 0.0177 | 15 | c.130 others(34): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31103490 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 226 | 0.0044 | 15 | c.129 others(34): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16216950 | T | TATTTGCT others(8): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0042 | a0002c0042t0019 | a0002c0042t0019g0225 | 1 | 388 | 0.0026 | 15 | c.139 others(34): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232518 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0361 | 1 | 388 | 0.0026 | 15 | c.*50 others(26): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2354 | chr3 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69264819 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00738.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0035 others(36): Show |
40 | 306 | 0.1307 | 15 | c.177 others(32): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71377105 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 76 | 0.0132 | 15 | c.423 others(34): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71397940 | C | CGTTGTTG others(8): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0060 | 1 | 76 | 0.0132 | 15 | c.589 others(32): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71592496 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0017 | 1 | 76 | 0.0132 | 15 | c.108 others(36): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71592544 | A | AATAAAAT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0017 | a0001c0001t0001g0045 a0001c0001t0013g0073 a0001c0001t0017g0047 |
3 | 76 | 0.0395 | 15 | c.108 others(36): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |