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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2166): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03540.hp1 |
a0007 | a0007c0017a0007c0021 | a0007c0017t0096a0007c0021t0097 | a0007c0017t0096g0218 a0007c0021t0097g0217 |
2 | 52 | 0.0385 | 2173 | c.183 others(2190): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408943 | A | AGCATTTG others(2166): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 246 | 0.0041 | 2173 | c.*18 others(2184): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 924 | chr1 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2166): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0203 | 1 | 8 | 0.1250 | 2173 | c.-56 others(2192): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2166): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0191 | 1 | 8 | 0.1250 | 2173 | c.-56 others(2192): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2166): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0213 | 1 | 8 | 0.1250 | 2173 | c.-56 others(2192): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494762 | T | TGAGGTGG others(2166): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0294 | 1 | 250 | 0.0040 | 2173 | c.126 others(2192): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2167): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0277 | 1 | 312 | 0.0032 | 2174 | c.169 others(2193): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2167): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0258 | 1 | 312 | 0.0032 | 2174 | c.169 others(2193): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2167): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 2 | 0.5000 | 2174 | c.-52 others(2195): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32745965 | T | TTTTTAAA others(2167): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 397 | 0.0025 | 2174 | c.-25 others(2185): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 2499 | chr20 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276306 | T | TGGTGTGT others(2167): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0179 | 1 | 384 | 0.0026 | 2174 | c.972 others(2187): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13262129 | C | CGTGGGGG others(2167): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 | 1 | 135 | 0.0074 | 2174 | c.-46 others(2195): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2167): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0194 | 1 | 8 | 0.1250 | 2174 | c.-56 others(2193): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870364 | C | CCACACAC others(2167): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 290 | 0.0034 | 2174 | c.*35 others(2193): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585380 | T | TGAGGGAG others(2168): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0049 | 1 | 333 | 0.0030 | 2175 | c.-22 others(2192): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2168): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0192 | 1 | 9 | 0.1111 | 2175 | c.565 others(2192): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(2168): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0269 | 1 | 224 | 0.0045 | 2175 | c.215 others(2192): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2168): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0033 | 1 | 289 | 0.0035 | 2175 | c.-49 others(2186): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435509 | C | CGGAGGGA others(2168): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0005 | 1 | 86 | 0.0116 | 2175 | c.-16 others(2196): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2168): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 4 | 0.2500 | 2175 | c.972 others(2188): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251137 | C | CCACGACT others(2168): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 374 | 0.0027 | 2175 | c.*44 others(2186): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3122 | chr10 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2169): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 | 1 | 294 | 0.0034 | 2176 | c.147 others(2193): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2169): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0269 | 1 | 76 | 0.0132 | 2176 | c.955 others(2193): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882073 | G | GGGGAGAA others(2169): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0020 | 1 | 173 | 0.0058 | 2176 | c.303 others(2195): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2169): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0008 | 1 | 69 | 0.0145 | 2176 | c.*52 others(2187): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2169): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 144 | 0.0069 | 2176 | c.*17 others(2187): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2169): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 172 | 0.0058 | 2176 | c.*22 others(2187): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2377946 | G | GCTGTGTT others(2169): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 261 | 0.0038 | 2176 | c.215 others(2193): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(2169): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0079 | 1 | 259 | 0.0039 | 2176 | c.228 others(2193): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(2169): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0048 | a0048c0072 | a0048c0072t0027 | a0048c0072t0027g0365 | 1 | 324 | 0.0031 | 2176 | c.-50 others(2187): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGGTGT others(2169): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 4 | 0.2500 | 2176 | c.972 others(2189): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2169): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 4 | 0.2500 | 2176 | c.972 others(2189): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2169): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 249 | 0.0040 | 2176 | c.-11 others(2187): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2169): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 8 | 0.1250 | 2176 | c.-56 others(2195): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2169): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0008 | a0001c0008t0081 | a0001c0008t0081g0019 | 1 | 4 | 0.2500 | 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 | 113 | 0.0088 | 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 | a0001c0001t0001g0056 a0001c0019t0001g0058 |
2 | 4 | 0.5000 | 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 | 61 | 0.0164 | 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 | a0003c0003t0006a0003c0003t0108a0008c0016t0107 | a0003c0003t0006g0158 a0003c0003t0108g0162 a0008c0016t0107g0207 |
3 | 53 | 0.0566 | 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 | 8 | 0.1250 | 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 | 125 | 0.0080 | 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 | a0002c0024t0002g0290 a0002c0028t0002g0094 |
2 | 326 | 0.0061 | 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 | a0002c0002t0016g0254 | 1 | 345 | 0.0029 | 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 | a0005c0047t0001g0150 | 1 | 121 | 0.0083 | 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 | 3 | 0.6667 | 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 | 2 | 0.5000 | 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 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0235 | 1 | 277 | 0.0036 | 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 | a0027 | a0027c0078 | a0027c0078t0002 | a0027c0078t0002g0053 | 1 | 132 | 0.0076 | 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 | a0001c0008t0005a0002c0002t0005a0002c0002t0013others(8): Show | a0001c0008t0005g0060 a0002c0002t0005g0142 a0002c0002t0013g0134 others(10): Show |
13 | 63 | 0.2063 | 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 | a0002c0002t0073 | a0002c0002t0073g0156 | 1 | 51 | 0.0196 | 2178 | c.183 others(2195): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar |