regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2169): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0008 | a0001c0008t0081 | a0001c0008t0081g0019 | 1 | 196 | 0.0051 | 2176 | c.291 others(2195): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(2169): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 167 | 0.0060 | 2176 | c.*53 others(2187): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(2170): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01261.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0056a0001c0019t0001g0058 | 2 | 125 | 0.0160 | 2177 | c.219 others(2196): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2170): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0155 | 1 | 301 | 0.0033 | 2177 | c.-11 others(2188): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2170): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG03471.hp2 |
a0003a0008 | a0003c0003a0008c0016 | a0003c0003t0006a0003c0003t0109a0008c0016t0108 | a0003c0003t0006g0159a0003c0003t0109g0163a0008c0016t0108g0207 | 3 | 238 | 0.0126 | 2177 | c.183 others(2194): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2170): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0011 | 1 | 432 | 0.0023 | 2177 | c.-20 others(2188): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980397 | G | GTGCCCGG others(2171): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0233 | 1 | 268 | 0.0037 | 2178 | c.604 others(2193): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477321 | A | ACCCCCAT others(2171): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03130.hp2 |
a0002 | a0002c0024a0002c0028 | a0002c0024t0002a0002c0028t0002 | a0002c0024t0002g0290a0002c0028t0002g0094 | 2 | 334 | 0.0060 | 2178 | c.147 others(2195): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1431769 | G | GTCTGGTC others(2171): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0284 | 1 | 360 | 0.0028 | 2178 | c.92- others(2193): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132914127 | C | CCCCGAGG others(2171): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0005 | a0005c0047 | a0005c0047t0001 | a0005c0047t0001g0216 | 1 | 246 | 0.0041 | 2178 | c.212 others(2195): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2171): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 2 | 298 | 0.0067 | 2178 | c.126 others(2195): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2171): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0120 | 1 | 298 | 0.0034 | 2178 | c.126 others(2195): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EVC_chr4_5706201_5819305 | 5706413 | C | CATAGATA others(2171): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0010 | a0010c0025 | a0010c0025t0001 | a0010c0025t0001g0235 | 1 | 369 | 0.0027 | 2178 | c.-49 others(2189): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4787 | chr4 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185145 | C | CTTCCCCT others(2171): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0048 | a0048c0078 | a0048c0078t0002 | a0048c0078t0002g0053 | 1 | 174 | 0.0058 | 2178 | c.193 others(2197): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2171): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02257.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0008a0002c0002a0002c0010others(7): Show | a0001c0008t0005a0002c0002t0005a0002c0002t0012others(8): Show | a0001c0008t0005g0064a0002c0002t0005g0143a0002c0002t0012g0135others(10): Show | 13 | 238 | 0.0546 | 2178 | c.183 others(2195): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2171): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0074 | a0002c0002t0074g0157 | 1 | 238 | 0.0042 | 2178 | c.183 others(2195): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876784 | G | GGGAGGTT others(2171): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0181 | 1 | 274 | 0.0037 | 2178 | c.224 others(2197): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925019 | G | GAACACTG others(2171): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 | 1 | 292 | 0.0034 | 2178 | c.718 others(2195): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2171): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0037 | a0037c0156 | a0037c0156t0001 | a0037c0156t0001g0215 | 1 | 282 | 0.0036 | 2178 | c.299 others(2193): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2171): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 432 | 0.0023 | 2178 | c.-20 others(2189): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(2171): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0155 | 1 | 376 | 0.0027 | 2178 | c.101 others(2195): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251145 | C | CCCCCCAC others(2172): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 116 | 0.0086 | 2179 | c.207 others(2198): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2172): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 390 | 0.0026 | 2179 | c.972 others(2192): 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(2172): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03139.hp2 HG03195.hp1 others(1): Show |
a0003a0007a0009 | a0003c0003a0007c0020a0009c0029 | a0003c0003t0026a0003c0003t0114a0007c0020t0082others(1): Show | a0003c0003t0026g0181a0003c0003t0114g0233a0007c0020t0082g0222others(1): Show | 4 | 238 | 0.0168 | 2179 | c.183 others(2196): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(2172): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0139 | 1 | 188 | 0.0053 | 2179 | c.147 others(2196): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2173): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 334 | 0.0030 | 2180 | c.147 others(2197): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2173): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03017.hp2 HG03239.hp1 |
a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0001a0001c0003t0011g0002a0001c0003t0011g0003 | 3 | 342 | 0.0088 | 2180 | c.187 others(2197): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933883 | A | AGGAGAGG others(2173): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0041 | 1 | 386 | 0.0026 | 2180 | c.198 others(2195): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933883 | A | AGGAGAGG others(2173): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0004 | a0001c0004t0034 | a0001c0004t0034g0039 | 1 | 386 | 0.0026 | 2180 | c.198 others(2195): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251150 | A | AACACCCC others(2173): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 116 | 0.0086 | 2180 | c.207 others(2199): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(2173): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0011 | a0011c0099 | a0011c0099t0017 | a0011c0099t0017g0362 | 1 | 369 | 0.0027 | 2180 | c.-50 others(2191): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586550 | G | GGGGGGAA others(2173): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0019 | a0019c0020 | a0019c0020t0037 | a0019c0020t0037g0162 | 1 | 308 | 0.0033 | 2180 | c.157 others(2197): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435381 | A | ACGGAGGG others(2173): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0079 | a0001c0001t0038g0013a0001c0001t0079g0014 | 2 | 96 | 0.0208 | 2180 | c.-16 others(2201): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435381 | A | ACGGAGGG others(2173): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0087 | 1 | 96 | 0.0104 | 2180 | c.-16 others(2201): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2173): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0144 | 1 | 238 | 0.0042 | 2180 | c.183 others(2197): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(2173): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 167 | 0.0060 | 2180 | c.*53 others(2191): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
ZFP3_chr17_5073467_5101374 | 5083028 | A | AAGAGAAA others(2173): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 406 | 0.0025 | 2180 | c.-9+ others(2195): Show |
ZFP3 | ENSG00000180787.6 | transcript | ENST00000318833.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2174): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 316 | 0.0032 | 2181 | c.44- others(2194): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2174): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0015 | 1 | 276 | 0.0036 | 2181 | c.*52 others(2192): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(2174): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 1 | 432 | 0.0023 | 2181 | c.-20 others(2192): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2174): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0046 | 1 | 432 | 0.0023 | 2181 | c.-20 others(2192): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414386 | A | AAAGGCAC others(2174): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 373 | 0.0027 | 2181 | c.115 others(2198): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2175): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0094 | 1 | 342 | 0.0029 | 2182 | c.187 others(2199): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2175): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 316 | 0.0032 | 2182 | c.44- others(2195): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 478081 | G | GGGGAAAA others(2175): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0086 | 1 | 88 | 0.0114 | 2182 | c.158 others(2199): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2175): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0011 | 1 | 292 | 0.0034 | 2182 | c.228 others(2199): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2175): Show |
upstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0336 | 1 | 369 | 0.0027 | 2182 | c.-50 others(2193): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2175): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01071.hp1 others(18): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0042a0001c0001t0053a0001c0001t0083others(15): Show | a0001c0001t0042g0113a0001c0001t0053g0073a0001c0001t0083g0076others(18): Show | 21 | 238 | 0.0882 | 2182 | c.183 others(2199): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2175): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0075 | a0003c0003t0075g0162 | 1 | 238 | 0.0042 | 2182 | c.183 others(2199): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2175): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0073 | 1 | 186 | 0.0054 | 2182 | c.723 others(2199): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar |