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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GADL1_chr3_30721197_30899661 | 30889084 | T | TAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG02148.hp1 HG02155.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 others(11): Show |
14 | 123 | 0.1138 | 7 | c.37+ others(22): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
GAK_chr4_844277_937316 | 869633 | A | ACACACAG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(213): Show |
a0001a0003a0005others(14): Show | a0001c0001a0001c0004a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 others(211): Show |
216 | 387 | 0.5581 | 7 | c.224 others(24): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 19/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 895015 | A | AAATAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(26): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(26): Show |
29 | 321 | 0.0903 | 7 | c.742 others(24): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 7/27 | chr4 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49220058 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01358.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0141 a0001c0002t0003g0137 a0001c0002t0003g0138 others(3): Show |
6 | 240 | 0.0250 | 7 | c.266 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228688 | T | TATATATA | intron_variant | MODIFIER | HG00558.hp1 NA19010.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0033 |
3 | 297 | 0.0101 | 7 | c.267 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49232794 | C | CAAAAATG | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02258.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0010a0002c0004t0010 | a0001c0001t0010g0037 a0001c0001t0010g0039 a0001c0001t0010g0202 others(5): Show |
8 | 346 | 0.0231 | 7 | c.267 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49299735 | T | TTTCTTTC | intron_variant | MODIFIER | HG00140.hp1 HG01516.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0016 | a0001c0001t0002g0064 a0001c0001t0006g0233 a0001c0002t0016g0004 others(1): Show |
5 | 234 | 0.0214 | 7 | c.967 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703093 | T | TATATATA | intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0002g0088 others(1): Show |
4 | 289 | 0.0138 | 7 | c.634 others(26): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154264334 | A | ATTTGGGG | intron_variant | MODIFIER | NA18961.hp1 NA18974.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0171 a0001c0001t0003g0181 a0001c0001t0003g0198 |
3 | 234 | 0.0128 | 7 | c.160 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154329961 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0147 others(19): Show |
22 | 101 | 0.2178 | 7 | c.568 others(22): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154393066 | A | AAAAACAC | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01168.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0044 a0001c0001t0001g0188 a0001c0001t0001g0230 others(26): Show |
29 | 230 | 0.1261 | 7 | c.105 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152058983 | C | CATCTGTG | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0037 a0001c0001t0003g0005 a0001c0001t0003g0014 others(22): Show |
25 | 282 | 0.0887 | 7 | c.-39 others(26): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152123688 | A | AAAAAAAC | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0021 a0001c0001t0003g0022 others(4): Show |
8 | 282 | 0.0284 | 7 | c.*20 others(18): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1349 | chr7 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT | intron_variant | MODIFIER | HG02559.hp2 HG02965.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0044a0001c0001t0048others(2): Show | a0001c0001t0012g0154 a0001c0001t0044g0156 a0001c0001t0048g0160 others(2): Show |
5 | 40 | 0.1250 | 7 | c.142 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154225133 | T | TAGATGAC | intron_variant | MODIFIER | HG02080.hp1 HG02896.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0053 | a0001c0001t0001g0024 a0001c0001t0014g0141 a0001c0001t0053g0030 |
3 | 211 | 0.0142 | 7 | c.312 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154225149 | A | AGATAGAT | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(9): Show | a0001c0001t0003g0016 a0001c0001t0004g0183 a0001c0001t0012g0179 others(13): Show |
16 | 210 | 0.0762 | 7 | c.312 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298792 | T | TAAATATA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00642.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0062 others(33): Show |
36 | 157 | 0.2293 | 7 | c.976 others(24): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154351682 | C | CAAAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0061 a0001c0001t0002g0134 a0001c0001t0002g0135 others(2): Show |
5 | 8 | 0.6250 | 7 | c.115 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154394077 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0016others(8): Show | a0001c0001t0008g0020 a0001c0001t0014g0141 a0001c0001t0016g0169 others(11): Show |
14 | 65 | 0.2154 | 7 | c.115 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30919204 | C | CCTGGAGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(81): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 others(81): Show |
84 | 224 | 0.3750 | 7 | c.138 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 13/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16233092 | A | ATGTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01358.hp2 HG01361.hp2 others(1): Show |
a0003a0005 | a0003c0034a0005c0017 | a0003c0034t0007a0005c0017t0007 | a0003c0034t0007g0201 a0005c0017t0007g0015 a0005c0017t0007g0166 |
4 | 377 | 0.0106 | 7 | c.*55 others(18): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2928 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01099.hp2 others(9): Show |
a0001a0002a0003 | a0001c0002a0001c0007a0002c0013others(1): Show | a0001c0002t0003a0001c0007t0008a0002c0013t0015others(2): Show | a0001c0002t0003g0023 a0001c0002t0003g0263 a0001c0002t0003g0343 others(9): Show |
12 | 116 | 0.1034 | 7 | c.*55 others(18): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69333949 | G | GGCTGGGA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00673.hp1 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0124 a0001c0001t0001g0248 a0001c0001t0002g0092 others(33): Show |
36 | 304 | 0.1184 | 7 | c.967 others(22): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71127155 | C | CTTTCTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0005g0051 others(24): Show |
27 | 43 | 0.6279 | 7 | c.-56 others(18): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 4988 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71429204 | G | GAAGGGGA | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0041 a0001c0001t0003g0001 a0001c0001t0003g0003 others(15): Show |
18 | 76 | 0.2368 | 7 | c.962 others(24): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71449108 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01258.hp2 HG01261.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0031 a0001c0001t0002g0027 a0001c0001t0003g0002 others(13): Show |
16 | 19 | 0.8421 | 7 | c.962 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71718034 | T | TATTATTA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01261.hp1 HG01346.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(7): Show | a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0033 others(15): Show |
18 | 75 | 0.2400 | 7 | c.*58 others(18): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 4436 | chr7 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269277 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG02257.hp1 others(12): Show |
a0001 | a0001c0002a0001c0004a0001c0010 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0156 a0001c0002t0001g0164 a0001c0002t0001g0226 others(12): Show |
15 | 66 | 0.2273 | 7 | c.*18 others(18): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1599 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11284908 | G | GTTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01943.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0002g0035 a0001c0002t0001g0184 a0001c0002t0001g0215 others(8): Show |
11 | 45 | 0.2444 | 7 | c.167 others(26): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11419619 | A | AAAGAAAG | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp2 HG01496.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0142 a0001c0001t0002g0053 a0001c0001t0002g0092 others(7): Show |
10 | 216 | 0.0463 | 7 | c.595 others(26): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11592929 | G | GTTTGTTT | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0115 a0001c0001t0001g0247 a0001c0001t0001g0248 others(8): Show |
11 | 258 | 0.0426 | 7 | c.235 others(26): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
GALNT1_chr18_35576740_35716834 | 35599366 | C | CCTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02486.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(9): Show |
12 | 119 | 0.1008 | 7 | c.-10 others(28): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
GALNT2_chr1_230062238_230287122 | 230252843 | C | CTTTTTTT | intron_variant | MODIFIER | HG01256.hp1 HG01515.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0009a0001c0001t0010a0001c0003t0001others(2): Show | a0001c0001t0009g0105 a0001c0001t0010g0123 a0001c0003t0001g0036 others(3): Show |
6 | 85 | 0.0706 | 7 | c.100 others(26): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT3_chr2_165742588_165799247 | 165793912 | A | ACCGTAGC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0007a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0024 others(107): Show |
136 | 384 | 0.3542 | 7 | c.-10 others(23): Show |
GALNT3 | ENSG00000115339.14 | transcript | ENST00000392701.8 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157273630 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01261.hp2 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0068a0001c0002t0072a0002c0003t0001others(8): Show | a0001c0001t0068g0235 a0001c0002t0072g0246 a0002c0003t0001g0191 others(9): Show |
12 | 97 | 0.1237 | 7 | c.145 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT6_chr12_51346252_51396406 | 51371054 | A | AATTTATT | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01106.hp1 others(39): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0018 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0001g0303 a0001c0001t0006g0032 a0001c0001t0006g0036 others(36): Show |
42 | 77 | 0.5455 | 7 | c.665 others(24): Show |
GALNT6 | ENSG00000139629.16 | transcript | ENST00000356317.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132221658 | C | CAAAAAAA | intron_variant | MODIFIER | HG01978.hp1 HG02027.hp2 NA18953.hp1 others(2): Show |
a0001a0003 | a0001c0004a0001c0005a0001c0008others(1): Show | a0001c0004t0001a0001c0005t0001a0001c0008t0002others(1): Show | a0001c0004t0001g0020 a0001c0004t0001g0121 a0001c0005t0001g0026 others(2): Show |
5 | 12 | 0.4167 | 7 | c.107 others(28): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132248463 | A | ATCCTGTC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00733.hp1 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 others(14): Show |
17 | 182 | 0.0934 | 7 | c.960 others(22): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 5/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132261394 | T | TGGAGACG | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0010a0001c0019a0001c0025others(1): Show | a0001c0010t0001a0001c0019t0003a0001c0025t0012others(1): Show | a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 others(3): Show |
6 | 182 | 0.0330 | 7 | c.587 others(22): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 171840394 | A | ACCGTGGG | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 others(11): Show |
14 | 40 | 0.3500 | 7 | c.138 others(26): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 171914780 | T | TAAAAAAA | intron_variant | MODIFIER | HG02258.hp2 HG03195.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012 | a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0003g0019 others(1): Show |
4 | 12 | 0.3333 | 7 | c.138 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172004765 | C | CAATAAGA | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02015.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(30): Show |
33 | 40 | 0.8250 | 7 | c.138 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172552837 | T | TAAAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0036 others(5): Show |
8 | 18 | 0.4444 | 7 | c.553 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172658149 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0040 a0001c0001t0002g0008 a0001c0001t0002g0022 others(5): Show |
8 | 12 | 0.6667 | 7 | c.554 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172726107 | G | GCCAGTCC | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02258.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(19): Show |
22 | 40 | 0.5500 | 7 | c.554 others(26): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56178521 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01515.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0003a0002c0003t0001others(2): Show | a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0268 others(12): Show |
19 | 215 | 0.0884 | 7 | c.87+ others(22): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77258907 | C | CATGTGAT | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01361.hp2 others(4): Show |
a0001a0003 | a0001c0002a0003c0005a0003c0007 | a0001c0002t0051a0001c0002t0054a0003c0005t0012others(3): Show | a0001c0002t0051g0175 a0001c0002t0054g0139 a0003c0005t0012g0052 others(4): Show |
7 | 251 | 0.0279 | 7 | c.732 others(24): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
GAP43_chr3_115618510_115726483 | 115618681 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 others(45): Show |
48 | 50 | 0.9600 | 7 | c.-50 others(18): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 4828 | chr3 | TogoVar | |||||||
GAP43_chr3_115618510_115726483 | 115698082 | A | AAATATAT | intron_variant | MODIFIER | HG01261.hp1 HG02071.hp2 HG02293.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0019a0001c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0067 others(13): Show |
17 | 349 | 0.0487 | 7 | c.628 others(26): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115698212 | A | AAATATAT | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp1 HG01943.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0035 others(41): Show |
44 | 142 | 0.3099 | 7 | c.628 others(26): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |