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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2146): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0122 | 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 | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 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 | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 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 | HG00140.hp2 HG01099.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0157 a0001c0001t0008g0159 a0001c0001t0008g0167 |
3 | 10 | 0.3000 | 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 | a0001c0001t0008g0158 a0001c0001t0008g0160 a0001c0001t0008g0161 others(4): Show |
7 | 14 | 0.5000 | 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 | a0001c0001t0013g0112 | 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 | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2146): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0072 | 1 | 82 | 0.0122 | 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 | 8 | 0.1250 | 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 | 8 | 0.1250 | 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 | a0002c0003t0004g0003 a0002c0003t0006g0011 |
5 | 12 | 0.4167 | 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 | 35 | 0.0286 | 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 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0129 a0001c0001t0006g0042 |
2 | 140 | 0.0143 | 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 | a0001c0001t0003g0092 a0001c0001t0021g0093 |
2 | 3 | 0.6667 | 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 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0005 | 1 | 52 | 0.0192 | 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 | 52 | 0.0192 | 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 | 52 | 0.0192 | 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 | 174 | 0.0057 | 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 | a0042 | a0042c0102 | a0042c0102t0010 | a0042c0102t0010g0171 | 1 | 132 | 0.0076 | 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 | 4 | 0.2500 | 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 | a0001c0001t0041g0059 | 1 | 8 | 0.1250 | 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 | a0001c0001t0001g0102 a0001c0001t0001g0131 |
2 | 9 | 0.2222 | 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 | a0001c0001t0007g0002 a0001c0001t0007g0010 a0001c0001t0007g0011 others(3): Show |
7 | 14 | 0.5000 | 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 | a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0001g0096 others(2): Show |
5 | 12 | 0.4167 | 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 | a0001c0001t0008g0166 a0001c0001t0015g0164 a0001c0001t0015g0165 |
3 | 10 | 0.3000 | 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 | 8 | 0.1250 | 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 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0001a0004c0007t0001 | a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 others(1): Show |
4 | 142 | 0.0282 | 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 | 64 | 0.0156 | 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 |
a0001a0005 | a0001c0023a0005c0025 | a0001c0023t0001a0005c0025t0007 | a0001c0023t0001g0246 a0005c0025t0007g0294 |
2 | 5 | 0.4000 | 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 | a0001c0001t0020g0183 | 1 | 8 | 0.1250 | 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 | a0001c0001t0031g0121 | 1 | 8 | 0.1250 | 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 | a0001c0001t0001g0130 | 1 | 8 | 0.1250 | 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 | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0140 others(1): Show |
4 | 11 | 0.3636 | 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 | 297 | 0.0034 | 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 | 8 | 0.1250 | 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 | a0002c0003t0004g0003 a0002c0003t0006g0011 |
18 | 25 | 0.7200 | 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 | 8 | 0.1250 | 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 | 392 | 0.0026 | 2155 | c.-39 others(2166): Show |
RNF145 | ENSG00000145860.13 | transcript | ENST00000424310.7 | protein_coding | 3589 | chr5 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107830681 | A | AATAAATC others(2148): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0049 a0001c0001t0006g0014 |
2 | 208 | 0.0096 | 2155 | c.321 others(2174): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 2/26 | chr1 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2149): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 30 | 0.0333 | 2156 | c.445 others(2171): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2149): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0061 | a0002c0002t0061g0060 | 1 | 125 | 0.0080 | 2156 | c.-45 others(2173): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2149): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0034 | 1 | 19 | 0.0526 | 2156 | c.371 others(2175): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2149): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 19 | 0.0526 | 2156 | c.371 others(2175): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2149): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0079 | 1 | 17 | 0.0588 | 2156 | c.*11 others(2177): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(2149): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 135 | 0.0074 | 2156 | c.*31 others(2167): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2149): Show |
intron_variant | MODIFIER | HG01168.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0075 a0001c0001t0004g0022 |
2 | 9 | 0.2222 | 2156 | c.-56 others(2175): 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(2149): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0107 | 1 | 8 | 0.1250 | 2156 | c.-56 others(2175): 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(2149): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 8 | 0.1250 | 2156 | c.-56 others(2175): 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(2149): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 8 | 0.1250 | 2156 | c.-56 others(2175): 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(2149): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03516.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0037 |
3 | 299 | 0.0100 | 2156 | c.-17 others(2171): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273022 | A | AAGAGACC others(2149): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 75 | 0.0133 | 2156 | c.438 others(2173): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar |