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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAN1B1_chr9_137081985_137114183 | 137102282 | C | CATTCACG others(2052): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0103 | 1 | 404 | 0.0025 | 2059 | c.125 others(2076): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2052): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0049 | a0001c0001t0001g0219a0001c0001t0049g0010 | 2 | 302 | 0.0066 | 2059 | c.*39 others(2070): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2052): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 186 | 0.0054 | 2059 | c.-50 others(2070): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2053): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0029 | a0029c0021 | a0029c0021t0006 | a0029c0021t0006g0010 | 1 | 218 | 0.0046 | 2060 | c.108 others(2077): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2053): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0261 | 1 | 366 | 0.0027 | 2060 | c.648 others(2077): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2053): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0123 | 1 | 364 | 0.0028 | 2060 | c.445 others(2075): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2053): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0017 | a0017c0012 | a0017c0012t0002 | a0017c0012t0002g0120 | 1 | 292 | 0.0034 | 2060 | c.218 others(2075): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(2053): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 133 | 0.0075 | 2060 | c.-39 others(2071): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(2053): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 338 | 0.0030 | 2060 | c.*35 others(2079): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14763743 | C | CCTCTCCT others(2054): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 218 | 0.0046 | 2061 | c.108 others(2078): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2054): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0186 | 2 | 218 | 0.0092 | 2061 | c.108 others(2078): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2054): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 218 | 0.0046 | 2061 | c.108 others(2078): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2054): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 314 | 0.0032 | 2061 | c.-25 others(2078): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2054): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02970.hp1 |
a0002 | a0002c0003a0002c0012 | a0002c0003t0002a0002c0012t0002 | a0002c0003t0002g0101a0002c0012t0002g0100 | 2 | 404 | 0.0050 | 2061 | c.125 others(2078): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2054): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0111 | 1 | 404 | 0.0025 | 2061 | c.125 others(2078): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2054): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0112 | 1 | 404 | 0.0025 | 2061 | c.125 others(2078): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2054): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0007a0002c0003t0002g0114 | 8 | 404 | 0.0198 | 2061 | c.125 others(2078): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50397972 | C | CGGGGGGG others(2054): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0278 | 1 | 340 | 0.0029 | 2061 | c.227 others(2078): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348426 | A | AAGGGAAG others(2054): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0085 | 1 | 276 | 0.0036 | 2061 | c.132 others(2078): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2054): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0000 | 1 | 375 | 0.0027 | 2061 | c.*44 others(2072): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(2055): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0010 | a0001c0010t0020 | a0001c0010t0020g0004 | 1 | 228 | 0.0044 | 2062 | c.259 others(2083): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2055): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0011 | 1 | 104 | 0.0096 | 2062 | c.354 others(2081): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185147 | T | TCCCCTTC others(2055): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0015 | a0015c0005 | a0015c0005t0002 | a0015c0005t0002g0040 | 1 | 174 | 0.0058 | 2062 | c.193 others(2081): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GET4_chr7_871554_901436 | 890415 | C | CGGGGTCT others(2055): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0289 | 1 | 384 | 0.0026 | 2062 | c.467 others(2077): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 890415 | C | CGGGGTCT others(2055): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0267a0001c0006t0002g0290 | 2 | 384 | 0.0052 | 2062 | c.467 others(2077): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LINGO2_chr9_27932617_29218601 | 28189685 | G | GAGGGAGG others(2055): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 62 | 0.0161 | 2062 | c.-36 others(2083): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(2055): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0010 | a0001c0002t0006g0134a0001c0002t0006g0135a0001c0002t0010g0299 | 3 | 306 | 0.0098 | 2062 | c.*12 others(2075): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(2055): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0292 | 1 | 306 | 0.0033 | 2062 | c.*12 others(2075): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2056): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0012 | 1 | 218 | 0.0046 | 2063 | c.108 others(2080): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2056): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0045 | a0001c0001t0027g0282a0001c0001t0027g0304a0001c0001t0045g0283 | 3 | 425 | 0.0071 | 2063 | c.*68 others(2074): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2056): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(49): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0003g0173a0001c0001t0005g0001a0001c0001t0005g0019others(33): Show | 52 | 425 | 0.1224 | 2063 | c.*68 others(2074): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2056): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0001a0001c0001t0017g0290 | 2 | 425 | 0.0047 | 2063 | c.*68 others(2074): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102282 | C | CATTCACG others(2056): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19043.hp2 |
a0005 | a0005c0008a0005c0013 | a0005c0008t0002a0005c0013t0002 | a0005c0008t0002g0109a0005c0013t0002g0106 | 2 | 404 | 0.0050 | 2063 | c.125 others(2080): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRLF2_chrX_1185490_1217649 | 1198279 | G | GGAAGGCA others(2057): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0093 | 1 | 167 | 0.0060 | 2064 | c.646 others(2079): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2057): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0018 | 1 | 425 | 0.0024 | 2064 | c.*68 others(2075): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2057): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02647.hp2 others(2): Show |
a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0019a0002c0006t0009g0128 | 5 | 400 | 0.0125 | 2064 | c.-5+ others(2077): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2057): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0038 | a0002c0006t0038g0129 | 1 | 400 | 0.0025 | 2064 | c.-5+ others(2077): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LINGO2_chr9_27932617_29218601 | 28189669 | G | GAGGAAGG others(2057): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 62 | 0.0161 | 2064 | c.-36 others(2085): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(2057): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03225.hp1 HG03453.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0031a0006c0008t0001g0191 | 3 | 394 | 0.0076 | 2064 | c.-8+ others(2077): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(2057): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021 | 3 | 376 | 0.0080 | 2064 | c.*15 others(2075): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2057): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 214 | 0.0047 | 2064 | c.206 others(2083): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
VAV2_chr9_133756894_133997324 | 133827840 | C | CCTACCGC others(2057): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0026 | 1 | 200 | 0.0050 | 2064 | c.449 others(2081): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2058): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0302 | 1 | 337 | 0.0030 | 2065 | c.179 others(2086): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2058): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0294 | 1 | 337 | 0.0030 | 2065 | c.179 others(2086): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCC others(2058): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0044 | 1 | 218 | 0.0046 | 2065 | c.108 others(2082): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419071 | C | CCTCCCTC others(2058): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0031 | 1 | 262 | 0.0038 | 2065 | c.106 others(2084): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2058): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0177 | 1 | 268 | 0.0037 | 2065 | c.137 others(2082): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(2058): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0288 | 1 | 324 | 0.0031 | 2065 | c.340 others(2082): 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(2058): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0099 | 1 | 390 | 0.0026 | 2065 | c.972 others(2078): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(2058): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 178 | 0.0056 | 2065 | c.773 others(2080): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |