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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAB2_chr11_78210293_78422820 | 78227631 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0127 | 1 | 156 | 0.0064 | 23 | c.621 others(38): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78267857 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03492.hp1 NA19065.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0011a0001c0002t0035 | a0001c0002t0002g0043 a0001c0002t0011g0006 a0001c0002t0035g0081 |
3 | 154 | 0.0195 | 23 | c.376 others(42): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78318369 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 others(34): Show |
37 | 84 | 0.4405 | 23 | c.76- others(40): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78383581 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02630.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0009a0001c0002t0025others(2): Show | a0001c0002t0002g0046 a0001c0002t0009g0136 a0001c0002t0009g0137 others(4): Show |
7 | 159 | 0.0440 | 23 | c.75+ others(40): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98390375 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0005 | a0001c0005t0023 | a0001c0005t0023g0002 | 1 | 69 | 0.0145 | 23 | c.137 others(42): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 9/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98492349 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004others(1): Show | a0001c0002t0003a0001c0005t0012a0002c0004t0035others(1): Show | a0001c0002t0003g0134 a0001c0005t0012g0081 a0001c0005t0012g0082 others(2): Show |
5 | 15 | 0.3333 | 23 | c.732 others(40): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 4/18 | chr9 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50337129 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 316 | 0.0032 | 23 | c.-1+ others(40): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB2_chr1_151065761_151130542 | 151104775 | C | CTCTTCTT others(16): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 244 | 0.0041 | 23 | c.736 others(40): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABPB2_chr1_151065761_151130542 | 151104802 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01258.hp1 others(17): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0155 others(17): Show |
20 | 98 | 0.2041 | 23 | c.736 others(40): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46390200 | C | CCCTCCCC others(16): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0205 | 1 | 213 | 0.0047 | 23 | c.-47 others(32): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 73 | chr4 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01109.hp2 HG01516.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 others(20): Show |
23 | 39 | 0.5897 | 23 | c.459 others(40): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161487949 | G | GATGATCC others(16): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0258 | 1 | 264 | 0.0038 | 23 | c.238 others(42): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554144 | G | GTATATAT others(16): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01993.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 a0001c0001t0004g0034 a0001c0001t0004g0038 others(12): Show |
15 | 169 | 0.0888 | 23 | c.108 others(42): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27062434 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 31 | 0.0323 | 23 | c.270 others(42): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27145603 | C | CTCTATCT others(16): Show |
intron_variant | MODIFIER | HG01517.hp2 HG01884.hp1 HG01891.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0084 a0001c0001t0004g0007 others(7): Show |
10 | 45 | 0.2222 | 23 | c.270 others(44): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27145606 | T | TATCTATC others(16): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0077 a0001c0002t0001g0047 |
2 | 85 | 0.0235 | 23 | c.270 others(44): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27145610 | T | TATCTATC others(16): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19240.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0002a0001c0006t0003 | a0001c0005t0002g0067 a0001c0006t0003g0020 |
2 | 89 | 0.0225 | 23 | c.270 others(44): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27145614 | T | TATCTATC others(16): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0012 | 1 | 91 | 0.0110 | 23 | c.270 others(44): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27245676 | A | AGCCTGGC others(16): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0025others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0033 others(30): Show |
33 | 92 | 0.3587 | 23 | c.271 others(42): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828147 | C | CACCCTCC others(16): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 NA18961.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0258 others(1): Show |
4 | 356 | 0.0112 | 23 | c.146 others(40): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828276 | T | TTCCCTCT others(16): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01261.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0235 a0001c0004t0001g0211 a0001c0004t0001g0234 others(2): Show |
5 | 345 | 0.0145 | 23 | c.146 others(40): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828276 | T | TTCCCTCT others(16): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(49): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0185 others(45): Show |
52 | 392 | 0.1327 | 23 | c.146 others(40): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828299 | C | CTCCCTCT others(16): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18980.hp1 NA18986.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0114 others(1): Show |
6 | 410 | 0.0146 | 23 | c.146 others(40): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828458 | G | GTCCTCCC others(16): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 248 | 0.0040 | 23 | c.146 others(38): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828619 | G | GCCCTCCT others(16): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 325 | 0.0031 | 23 | c.146 others(38): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828952 | C | CTCCTCCC others(16): Show |
intron_variant | MODIFIER | HG02486.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0216 |
2 | 410 | 0.0049 | 23 | c.146 others(38): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30805734 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03540.hp2 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0005g0225 |
3 | 70 | 0.0429 | 23 | c.105 others(42): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
GAGE10_chrX_49298646_49324841 | 49318575 | T | TTTATTTA others(16): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01123.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0003 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0096 others(2): Show |
11 | 197 | 0.0558 | 23 | c.329 others(40): Show |
GAGE10 | ENSG00000215274.6 | transcript | ENST00000407599.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAGE12J_chrX_49317037_49334384 | 49318575 | T | TTTATTTA others(16): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01123.hp1 others(7): Show |
a0001a0007 | a0001c0001a0007c0007a0007c0009 | a0001c0001t0002a0007c0007t0003a0007c0009t0005 | a0001c0001t0002g0002 a0001c0001t0002g0058 a0007c0007t0003g0040 others(1): Show |
10 | 106 | 0.0943 | 23 | c.-35 others(34): Show |
GAGE12J | ENSG00000224659.3 | transcript | ENST00000442437.3 | protein_coding | 3461 | chrX | TogoVar | |||||||
GAGE2A_chrX_49584496_49601824 | 49587128 | A | AGGGGGGG others(16): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0009 | 1 | 128 | 0.0078 | 23 | c.-24 others(34): Show |
GAGE2A | ENSG00000189064.9 | transcript | ENST00000362097.2 | protein_coding | 2367 | chrX | TogoVar | |||||||
GAK_chr4_844277_937316 | 856165 | C | CCACCACA others(16): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0209 | 1 | 353 | 0.0028 | 23 | c.328 others(42): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 856297 | C | CCCTGCTC others(16): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0058 | 1 | 385 | 0.0026 | 23 | c.328 others(42): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 856601 | G | GCTGCTCA others(16): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00639.hp1 others(50): Show |
a0001a0005a0007others(3): Show | a0001c0001a0001c0012a0001c0021others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0012t0001others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0042 others(50): Show |
53 | 357 | 0.1485 | 23 | c.328 others(42): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 856615 | G | GTGCTCAC others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01261.hp2 others(41): Show |
a0001a0004a0017 | a0001c0001a0001c0008a0001c0030others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0008t0001others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(41): Show |
44 | 318 | 0.1384 | 23 | c.328 others(42): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 919990 | T | TGTGATGA others(16): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 388 | 0.0026 | 23 | c.146 others(40): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 920539 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 101 | 0.0099 | 23 | c.146 others(40): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0062 a0001c0001t0007g0070 |
2 | 137 | 0.0146 | 23 | c.267 others(40): 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(16): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0193 | 1 | 136 | 0.0074 | 23 | c.267 others(40): 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(16): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0052 | a0001c0002t0004g0186 a0001c0002t0052g0187 |
2 | 137 | 0.0146 | 23 | c.267 others(40): 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(16): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0184 a0001c0002t0011g0185 |
2 | 137 | 0.0146 | 23 | c.267 others(40): 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(16): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG01978.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0018 | a0001c0002t0003g0134 a0001c0002t0003g0138 a0001c0002t0003g0140 others(4): Show |
7 | 236 | 0.0297 | 23 | c.967 others(40): 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(16): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0219 | 1 | 247 | 0.0040 | 23 | c.634 others(42): 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(16): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 286 | 0.0035 | 23 | c.634 others(42): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88825032 | T | TGGGGCTG others(16): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG01175.hp1 others(18): Show |
a0002 | a0002c0003a0002c0010a0002c0026 | a0002c0003t0001a0002c0003t0020a0002c0010t0001others(1): Show | a0002c0003t0001g0004 a0002c0003t0001g0026 a0002c0003t0001g0160 others(17): Show |
21 | 387 | 0.0543 | 23 | c.114 others(40): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88825056 | G | GGGGCTGG others(16): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02055.hp2 others(18): Show |
a0001a0003a0005 | a0001c0002a0003c0006a0003c0007others(3): Show | a0001c0002t0004a0003c0006t0001a0003c0006t0006others(6): Show | a0001c0002t0004g0012 a0001c0002t0004g0013 a0003c0006t0001g0025 others(18): Show |
21 | 397 | 0.0529 | 23 | c.114 others(40): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154225160 | T | TGACAGAT others(16): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0035 | 1 | 18 | 0.0556 | 23 | c.312 others(42): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30977092 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0005 | a0001c0001t0001g0014 a0002c0003t0005g0188 |
2 | 161 | 0.0124 | 23 | c.300 others(42): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 30989677 | T | TTAAAATA others(16): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0092 | 1 | 214 | 0.0047 | 23 | c.299 others(40): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16215916 | A | AAACAAAA others(16): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01175.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0001others(6): Show | a0001c0001t0001g0247 a0001c0002t0003g0141 a0002c0003t0001g0017 others(36): Show |
40 | 370 | 0.1081 | 23 | c.139 others(42): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16215916 | A | AAACAAAA others(16): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03834.hp1 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0186 a0002c0003t0009g0194 |
2 | 332 | 0.0060 | 23 | c.139 others(42): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |