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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2176): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0081 | 1 | 8 | 0.1250 | 2183 | c.723 others(2200): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2176): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 33 | 0.0303 | 2183 | c.212 others(2202): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2176): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01074.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(8): Show |
11 | 43 | 0.2558 | 2183 | c.212 others(2202): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2176): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 33 | 0.0303 | 2183 | c.212 others(2202): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2176): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 33 | 0.0303 | 2183 | c.212 others(2202): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757928 | C | CCACCTGC others(2177): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0196 | 1 | 249 | 0.0040 | 2184 | c.655 others(2203): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1432080 | T | TCAGCAGT others(2177): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 291 | 0.0034 | 2184 | c.92- others(2199): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648286 | C | CGCGGGGT others(2177): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 254 | 0.0039 | 2184 | c.253 others(2199): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648421 | G | GGTGGAGA others(2177): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 304 | 0.0033 | 2184 | c.252 others(2199): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0311 | 1 | 262 | 0.0038 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 others(4): Show |
7 | 268 | 0.0261 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0141 |
2 | 263 | 0.0076 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0083 a0001c0001t0001g0084 others(47): Show |
50 | 311 | 0.1608 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 262 | 0.0038 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0007a0002c0005t0001 | a0001c0001t0007g0334 a0001c0001t0007g0335 a0001c0001t0007g0337 others(3): Show |
6 | 267 | 0.0225 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2177): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0336 | 1 | 262 | 0.0038 | 2184 | c.187 others(2201): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
DPPA4_chr3_109321144_109342546 | 109339123 | A | AGAGGTTG others(2177): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 399 | 0.0025 | 2184 | c.-16 others(2195): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1578 | chr3 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGACTAC others(2177): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 15 | 0.0667 | 2184 | c.199 others(2203): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGGT others(2177): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 4 | 0.2500 | 2184 | c.972 others(2197): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2177): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0004 | a0001c0004t0059 | a0001c0004t0059g0101 | 1 | 51 | 0.0196 | 2184 | c.183 others(2201): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2177): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0114 | a0003c0003t0114g0236 | 1 | 51 | 0.0196 | 2184 | c.183 others(2201): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2177): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 |
a0002a0006 | a0002c0010a0006c0013 | a0002c0010t0111a0006c0013t0053 | a0002c0010t0111g0230 a0006c0013t0053g0019 |
2 | 52 | 0.0385 | 2184 | c.183 others(2201): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2177): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 33 | 0.0303 | 2184 | c.212 others(2203): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2177): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0005 | a0005c0019 | a0005c0019t0024 | a0005c0019t0024g0189 | 1 | 32 | 0.0313 | 2184 | c.218 others(2199): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2177): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0003 | a0003c0003t0040 | a0003c0003t0040g0180 | 1 | 32 | 0.0313 | 2184 | c.218 others(2199): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2177): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2184 | c.-20 others(2195): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2177): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2184 | c.-20 others(2195): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458579 | C | CCACAGGG others(2177): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0102 | 1 | 230 | 0.0043 | 2184 | c.715 others(2201): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2177): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 NA18954.hp2 NA19000.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0009a0003c0005t0002 | a0001c0001t0002g0000 a0001c0001t0009g0000 a0003c0005t0002g0000 |
3 | 220 | 0.0136 | 2184 | c.*44 others(2195): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590992 | T | TTGGCTGA others(2177): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 a0001c0002t0001g0200 |
2 | 384 | 0.0052 | 2184 | c.161 others(2203): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029158 | C | ACTCGTAA others(2177): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174 | 1 | 203 | 0.0049 | 2184 | c.225 others(2203): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2178): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0117 | 1 | 176 | 0.0057 | 2185 | c.373 others(2202): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2178): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 209 | 0.0048 | 2185 | c.*50 others(2196): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2178): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0050 | a0050c0112 | a0050c0112t0001 | a0050c0112t0001g0076 | 1 | 8 | 0.1250 | 2185 | c.723 others(2202): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2178): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02970.hp1 |
a0002a0004 | a0002c0002a0004c0033 | a0002c0002t0002a0004c0033t0003 | a0002c0002t0002g0124 a0002c0002t0002g0140 a0004c0033t0003g0095 |
3 | 35 | 0.0857 | 2185 | c.212 others(2204): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(2178): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0200 | 1 | 4 | 0.2500 | 2185 | c.279 others(2200): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAG others(2178): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 148 | 0.0068 | 2185 | c.360 others(2204): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(2178): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0004 | a0004c0003 | a0004c0003t0052 | a0004c0003t0052g0069 | 1 | 63 | 0.0159 | 2185 | c.199 others(2204): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758516 | T | TCACCTGC others(2179): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 157 | 0.0064 | 2186 | c.655 others(2205): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2179): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02683.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015 | a0001c0001t0001g0323 a0001c0001t0009g0254 a0001c0001t0009g0255 others(4): Show |
7 | 268 | 0.0261 | 2186 | c.187 others(2203): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2179): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0005 | a0005c0018 | a0005c0018t0003 | a0005c0018t0003g0004 | 1 | 249 | 0.0040 | 2186 | c.228 others(2203): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2179): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0174 | 1 | 249 | 0.0040 | 2186 | c.228 others(2203): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2179): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0335 | 1 | 311 | 0.0032 | 2186 | c.-50 others(2197): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2179): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0283 | 1 | 318 | 0.0031 | 2186 | c.-50 others(2197): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2179): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0003a0001c0004t0004 | a0001c0002t0003g0242 a0001c0002t0003g0251 a0001c0004t0003g0116 others(1): Show |
4 | 159 | 0.0252 | 2186 | c.*12 others(2197): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(2179): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 205 | 0.0049 | 2186 | c.-19 others(2197): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(2179): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 166 | 0.0060 | 2186 | c.773 others(2201): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(2179): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 2 | 9 | 0.2222 | 2186 | c.-20 others(2197): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2180): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00738.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0002c0002others(2): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0144 others(11): Show |
14 | 46 | 0.3043 | 2187 | c.212 others(2206): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2180): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0025 | a0005c0025t0007 | a0005c0025t0007g0259 | 1 | 4 | 0.2500 | 2187 | c.515 others(2204): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar |