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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2164): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0180 | 1 | 362 | 0.0028 | 2171 | c.-56 others(2190): 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(2164): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18999.hp1 NA19067.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0005 | a0001c0001t0005g0159a0001c0001t0005g0160a0002c0004t0005g0158 | 3 | 362 | 0.0083 | 2171 | c.-56 others(2190): 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(2164): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0182 | 1 | 362 | 0.0028 | 2171 | c.-56 others(2190): 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(2164): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 362 | 0.0028 | 2171 | c.-56 others(2190): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2165): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 288 | 0.0035 | 2172 | c.303 others(2191): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377675 | C | CGCGAGCT others(2165): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 384 | 0.0026 | 2172 | c.215 others(2189): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2165): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 390 | 0.0026 | 2172 | c.972 others(2185): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2165): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0157 | 1 | 292 | 0.0034 | 2172 | c.218 others(2187): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2165): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0008 | a0001c0008t0025 | a0001c0008t0025g0282 | 1 | 282 | 0.0036 | 2172 | c.299 others(2187): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2165): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 272 | 0.0037 | 2172 | c.-12 others(2193): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130646058 | A | ACCACCTG others(2165): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 180 | 0.0056 | 2172 | c.-35 others(2193): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2165): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 375 | 0.0053 | 2172 | c.*44 others(2183): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539206 | G | GAGGAGGG others(2166): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0028 | 1 | 104 | 0.0096 | 2173 | c.139 others(2194): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2166): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 214 | 0.0047 | 2173 | c.565 others(2190): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276306 | T | TGGTGTGT others(2166): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 390 | 0.0026 | 2173 | c.972 others(2186): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2166): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0043 | a0004c0043t0005 | a0004c0043t0005g0125 | 1 | 158 | 0.0063 | 2173 | c.*11 others(2194): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2166): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03540.hp1 |
a0007 | a0007c0017a0007c0021 | a0007c0017t0097a0007c0021t0098 | a0007c0017t0097g0218a0007c0021t0098g0217 | 2 | 238 | 0.0084 | 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 | 266 | 0.0038 | 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 | a0001c0001t0006g0185 | 1 | 362 | 0.0028 | 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 | a0001c0001t0005g0173 | 1 | 362 | 0.0028 | 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 | a0001c0001t0037g0195 | 1 | 362 | 0.0028 | 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 | 295 | 0.0034 | 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 | a0003c0003t0001g0280 | 1 | 350 | 0.0029 | 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 | a0003c0003t0001g0261 | 1 | 350 | 0.0029 | 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 | 116 | 0.0086 | 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 | a0001c0001t0001g0037 | 1 | 400 | 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 | 390 | 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 | 178 | 0.0056 | 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 | a0001c0001t0006g0176 | 1 | 362 | 0.0028 | 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 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 338 | 0.0030 | 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 | 354 | 0.0028 | 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 | 214 | 0.0047 | 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 | a0001c0003t0001g0333 | 1 | 384 | 0.0026 | 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 | a0002c0003t0004 | a0002c0003t0004g0033 | 1 | 369 | 0.0027 | 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 | a0001c0001t0039g0003 | 1 | 96 | 0.0104 | 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 | 390 | 0.0026 | 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 | 375 | 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 | 334 | 0.0030 | 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 | 298 | 0.0034 | 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 | a0001c0001t0021 | a0001c0001t0021g0025 | 1 | 288 | 0.0035 | 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 | a0001c0004t0008 | a0001c0004t0008g0007 | 1 | 276 | 0.0036 | 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 | a0001c0001t0001g0280 | 1 | 345 | 0.0029 | 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 | a0001c0001t0001g0060 | 1 | 421 | 0.0024 | 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 | a0001c0001t0001g0034 | 1 | 384 | 0.0026 | 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 | a0002c0017t0001g0078 | 1 | 292 | 0.0034 | 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 | a0044 | a0044c0072 | a0044c0072t0028 | a0044c0072t0028g0365 | 1 | 369 | 0.0027 | 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 | 390 | 0.0026 | 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 | 390 | 0.0026 | 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 | a0001c0001t0002g0184 | 1 | 301 | 0.0033 | 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 | a0001c0001t0002g0191 | 1 | 362 | 0.0028 | 2176 | c.-56 others(2195): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |