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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KANK1_chr9_499695_751103 | 514222 | T | TCCTCTCT others(2144): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0016 | a0016c0021 | a0016c0021t0006 | a0016c0021t0006g0235 | 1 | 206 | 0.0049 | 2151 | c.-84 others(2168): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2144): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG06807.hp2 others(1): Show |
a0002a0005a0008others(1): Show | a0002c0002a0005c0011a0008c0016others(1): Show | a0002c0002t0003a0005c0011t0003a0008c0016t0003others(1): Show | a0002c0002t0003g0133 a0005c0011t0003g0205 a0008c0016t0003g0214 others(1): Show |
4 | 54 | 0.0741 | 2151 | c.183 others(2168): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2144): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 8 | 0.1250 | 2151 | c.-56 others(2170): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2144): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2151 | c.-20 others(2162): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(2144): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0307 | 1 | 337 | 0.0030 | 2151 | c.101 others(2170): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2145): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 139 | 0.0072 | 2152 | c.552 others(2169): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2145): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0301 | 1 | 139 | 0.0072 | 2152 | c.552 others(2169): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2145): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03041.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0280 |
3 | 141 | 0.0213 | 2152 | c.552 others(2169): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2145): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 139 | 0.0072 | 2152 | c.552 others(2169): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2145): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18522.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0276 a0001c0001t0011g0277 a0001c0001t0011g0278 |
3 | 141 | 0.0213 | 2152 | c.552 others(2169): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2145): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 139 | 0.0072 | 2152 | c.552 others(2169): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2145): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 139 | 0.0072 | 2152 | c.552 others(2169): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757900 | T | TCACCTGC others(2145): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0097 | 1 | 162 | 0.0062 | 2152 | c.655 others(2171): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251153 | C | CCCCCACA others(2145): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0106 | 1 | 97 | 0.0103 | 2152 | c.207 others(2171): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2145): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0007 | a0001c0007t0014 | a0001c0007t0014g0176 | 1 | 32 | 0.0313 | 2152 | c.218 others(2167): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2145): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0012 | a0012c0102 | a0012c0102t0007 | a0012c0102t0007g0176 | 1 | 36 | 0.0278 | 2152 | c.816 others(2169): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2145): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0035 | a0001c0001t0022g0053 a0001c0001t0035g0052 |
2 | 9 | 0.2222 | 2152 | c.-56 others(2171): 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(2145): Show |
intron_variant | MODIFIER | HG00733.hp1 NA19063.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0089 a0001c0001t0001g0145 a0001c0001t0010g0034 |
3 | 10 | 0.3000 | 2152 | c.-56 others(2171): 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(2145): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0149 |
2 | 9 | 0.2222 | 2152 | c.-56 others(2171): 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(2145): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 8 | 0.1250 | 2152 | c.-56 others(2171): 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(2145): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 8 | 0.1250 | 2152 | c.-56 others(2171): 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(2145): Show |
intron_variant | MODIFIER | HG01070.hp2 HG03490.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0156 a0001c0001t0008g0168 a0001c0001t0008g0169 |
3 | 10 | 0.3000 | 2152 | c.-56 others(2171): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222751 | G | GATCGCTG others(2145): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0048 | 1 | 184 | 0.0054 | 2152 | c.719 others(2171): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0300 a0001c0001t0007g0302 a0001c0001t0007g0303 others(2): Show |
5 | 143 | 0.0350 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp2 others(64): Show |
a0001a0007a0008 | a0001c0001a0007c0009a0008c0013 | a0001c0001t0001a0001c0001t0013a0001c0001t0020others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(60): Show |
67 | 205 | 0.3268 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0023others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(40): Show |
46 | 184 | 0.2500 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 a0001c0001t0001g0260 |
2 | 140 | 0.0143 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 139 | 0.0072 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG02257.hp1 others(17): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0004a0006c0006t0004 | a0001c0001t0004g0006 a0001c0001t0004g0016 a0001c0001t0004g0021 others(16): Show |
20 | 158 | 0.1266 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01243.hp1 others(29): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0297 others(26): Show |
32 | 170 | 0.1882 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 a0001c0001t0001g0263 |
2 | 140 | 0.0143 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 139 | 0.0072 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 139 | 0.0072 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 139 | 0.0072 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 139 | 0.0072 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2146): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 139 | 0.0072 | 2153 | c.552 others(2170): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2146): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0019 | a0001c0019t0006 | a0001c0019t0006g0015 | 1 | 19 | 0.0526 | 2153 | c.371 others(2172): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725467 | C | CGGTGGAT others(2146): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0103 | 1 | 257 | 0.0039 | 2153 | c.340 others(2170): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2146): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 4 | 0.2500 | 2153 | c.972 others(2166): 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(2146): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 4 | 0.2500 | 2153 | c.972 others(2166): 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(2146): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 4 | 0.2500 | 2153 | c.972 others(2166): 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(2146): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03098.hp1 others(2): Show |
a0002a0003 | a0002c0002a0002c0009a0003c0003 | a0002c0002t0003a0002c0009t0003a0003c0003t0003 | a0002c0002t0003g0123 a0002c0002t0003g0136 a0002c0002t0003g0144 others(2): Show |
5 | 55 | 0.0909 | 2153 | c.183 others(2170): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2146): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0138 | 1 | 51 | 0.0196 | 2153 | c.183 others(2170): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494650 | A | ACGGGGGA others(2146): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0088 | 1 | 293 | 0.0034 | 2153 | c.*39 others(2164): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2607 | chr7 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2146): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 8 | 0.1250 | 2153 | c.-56 others(2172): 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(2146): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 8 | 0.1250 | 2153 | c.-56 others(2172): 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(2146): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01258.hp1 HG03486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0030 | a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0062 others(5): Show |
9 | 16 | 0.5625 | 2153 | c.-56 others(2172): 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(2146): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0055 others(23): Show |
26 | 33 | 0.7879 | 2153 | c.-56 others(2172): 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(2146): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00673.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0021 | a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0067 others(18): Show |
21 | 28 | 0.7500 | 2153 | c.-56 others(2172): 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(2146): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18965.hp2 NA18966.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0038 | a0001c0001t0001g0060 a0001c0001t0001g0139 a0001c0001t0001g0146 others(2): Show |
5 | 12 | 0.4167 | 2153 | c.-56 others(2172): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |