| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DCDC2C_chr2_3698575_3853008 | 3725467 | C | CGGTGGAT others(2146): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0097 | 1 | 324 | 0.0031 | 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 | 390 | 0.0026 | 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 | 390 | 0.0026 | 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 | 390 | 0.0026 | 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 | a0002c0002t0003g0124a0002c0002t0003g0137a0002c0002t0003g0145others(2): Show | 5 | 238 | 0.0210 | 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 | a0002c0002t0052 | a0002c0002t0052g0139 | 1 | 238 | 0.0042 | 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 | a0001c0002t0056g0089 | 1 | 302 | 0.0033 | 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 | a0001c0001t0001g0079 | 1 | 362 | 0.0028 | 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 | a0001c0001t0001g0063 | 1 | 362 | 0.0028 | 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 | a0001c0001t0001g0002a0001c0001t0001g0037a0001c0001t0001g0060others(5): Show | 9 | 362 | 0.0249 | 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 | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0054others(23): Show | 26 | 362 | 0.0718 | 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 | a0001c0001t0001g0028a0001c0001t0001g0056a0001c0001t0001g0067others(18): Show | 21 | 362 | 0.0580 | 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 | a0001c0001t0001g0059a0001c0001t0001g0137a0001c0001t0001g0144others(2): Show | 5 | 362 | 0.0138 | 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 | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0120 | 1 | 362 | 0.0028 | 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 | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 362 | 0.0028 | 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 | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 362 | 0.0028 | 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 | HG00140.hp2 HG01099.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0271a0001c0001t0008g0277a0001c0001t0008g0281 | 3 | 362 | 0.0083 | 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 | HG00323.hp2 HG01071.hp1 HG01074.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0272a0001c0001t0008g0274a0001c0001t0008g0278others(4): Show | 7 | 362 | 0.0193 | 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 | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0110 | 1 | 362 | 0.0028 | 2153 | c.-56 others(2172): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2146): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0072 | 1 | 188 | 0.0053 | 2153 | c.147 others(2170): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2146): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0011 | 1 | 432 | 0.0023 | 2153 | c.-20 others(2164): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2146): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0009 | 1 | 432 | 0.0023 | 2153 | c.-20 others(2164): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2146): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 HG04204.hp2 NA18948.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0006 | a0002c0003t0004g0003a0002c0003t0006g0011 | 5 | 432 | 0.0116 | 2153 | c.-20 others(2164): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2146): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 | 1 | 126 | 0.0079 | 2153 | c.-28 others(2172): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2147): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0129a0001c0001t0007g0042 | 2 | 338 | 0.0059 | 2154 | c.552 others(2171): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2147): Show |
intron_variant | MODIFIER | HG06807.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0092a0001c0001t0021g0093 | 2 | 116 | 0.0172 | 2154 | c.-52 others(2175): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 99819313 | T | TTCTCCCC others(2147): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0005 | 1 | 66 | 0.0152 | 2154 | c.56- others(2167): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
| CNTN5_chr11_99015949_100363885 | 99819313 | T | TTCTCCCC others(2147): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0011 | a0011c0009 | a0011c0009t0005 | a0011c0009t0005g0056 | 1 | 66 | 0.0152 | 2154 | c.56- others(2167): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
| CNTN5_chr11_99015949_100363885 | 99819313 | T | TTCTCCCC others(2147): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0047 | 1 | 66 | 0.0152 | 2154 | c.56- others(2167): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
| DCDC2C_chr2_3698575_3853008 | 3725401 | G | GGCAGAGA others(2147): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 324 | 0.0031 | 2154 | c.340 others(2171): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FMN2_chr1_240086883_240480187 | 240185145 | C | CTTCCCCT others(2147): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0043 | a0043c0105 | a0043c0105t0010 | a0043c0105t0010g0171 | 1 | 174 | 0.0058 | 2154 | c.193 others(2173): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2147): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 390 | 0.0026 | 2154 | c.972 others(2167): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2147): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0058 | 1 | 362 | 0.0028 | 2154 | c.-56 others(2173): 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(2147): Show |
intron_variant | MODIFIER | HG01167.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0125 | 2 | 362 | 0.0055 | 2154 | c.-56 others(2173): 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(2147): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0036a0001c0001t0040 | a0001c0001t0007g0004a0001c0001t0007g0005a0001c0001t0007g0009others(4): Show | 7 | 362 | 0.0193 | 2154 | c.-56 others(2173): 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(2147): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02897.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0027a0001c0001t0001g0087a0001c0001t0001g0096others(2): Show | 5 | 362 | 0.0138 | 2154 | c.-56 others(2173): 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(2147): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02004.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0275a0001c0001t0015g0273a0001c0001t0015g0276 | 3 | 362 | 0.0083 | 2154 | c.-56 others(2173): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(2147): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 1 | 432 | 0.0023 | 2154 | c.-20 others(2165): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| ARID3B_chr15_74536220_74603131 | 74552325 | T | TGCTGGGA others(2148): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02523.hp2 NA18964.hp2 others(1): Show |
a0001a0005 | a0001c0003a0005c0011 | a0001c0003t0001a0005c0011t0001 | a0001c0003t0001g0285a0001c0003t0001g0286a0001c0003t0001g0287others(1): Show | 4 | 338 | 0.0118 | 2155 | c.552 others(2172): Show |
ARID3B | ENSG00000179361.18 | transcript | ENST00000346246.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(2148): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 183 | 0.0055 | 2155 | c.107 others(2174): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2148): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 |
a0001a0004 | a0001c0023a0004c0025 | a0001c0023t0001a0004c0025t0007 | a0001c0023t0001g0246a0004c0025t0007g0294 | 2 | 294 | 0.0068 | 2155 | c.515 others(2172): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2148): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0165 | 1 | 362 | 0.0028 | 2155 | c.-56 others(2174): 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(2148): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0119 | 1 | 362 | 0.0028 | 2155 | c.-56 others(2174): 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(2148): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 362 | 0.0028 | 2155 | c.-56 others(2174): 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(2148): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02602.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0076a0001c0001t0001g0097a0001c0001t0001g0138others(1): Show | 4 | 362 | 0.0111 | 2155 | c.-56 others(2174): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PRAMEF15_chr1_13310581_13327598 | 13315764 | T | TTTTTTTT others(2148): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 302 | 0.0033 | 2155 | c.-17 others(2170): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2148): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2155 | c.-20 others(2166): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2148): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00609.hp2 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0006 | a0002c0003t0004g0003a0002c0003t0006g0011 | 18 | 432 | 0.0417 | 2155 | c.-20 others(2166): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2148): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0034 | 1 | 432 | 0.0023 | 2155 | c.-20 others(2166): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| RNF145_chr5_159152409_159214553 | 159213141 | A | ATTTCTAG others(2148): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 394 | 0.0025 | 2155 | c.-39 others(2166): Show |
RNF145 | ENSG00000145860.13 | transcript | ENST00000424310.7 | protein_coding | 3589 | chr5 | TogoVar |