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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FKRP_chr19_46741057_46763575 | 46753337 | A | ATCCCAGC others(243): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 430 | 0.0023 | 250 | c.-39 others(267): Show |
FKRP | ENSG00000181027.11 | transcript | ENST00000318584.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FKRP_chr19_46741057_46763575 | 46753337 | A | ATCCCAGC others(243): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0011a0001c0010t0001 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0041others(6): Show | 12 | 430 | 0.0279 | 250 | c.-39 others(267): Show |
FKRP | ENSG00000181027.11 | transcript | ENST00000318584.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FKRP_chr19_46741057_46763575 | 46753337 | A | ATCCCAGC others(243): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02717.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040a0001c0002t0001g0100 | 3 | 430 | 0.0070 | 250 | c.-39 others(267): Show |
FKRP | ENSG00000181027.11 | transcript | ENST00000318584.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FKRP_chr19_46741057_46763575 | 46753337 | A | ATCCCAGC others(243): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 430 | 0.0023 | 250 | c.-39 others(267): Show |
FKRP | ENSG00000181027.11 | transcript | ENST00000318584.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FKRP_chr19_46741057_46763575 | 46753337 | A | ATCCCAGC others(243): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0012 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0064others(25): Show | 37 | 430 | 0.0861 | 250 | c.-39 others(267): Show |
FKRP | ENSG00000181027.11 | transcript | ENST00000318584.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FOXN3_chr14_89151177_89422233 | 89361245 | T | TCCACCAC others(243): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 230 | 0.0044 | 250 | c.544 others(269): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(243): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01943.hp1 HG01981.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001 | a0001c0001t0001g0006a0001c0001t0001g0075a0001c0001t0001g0122others(2): Show | 6 | 364 | 0.0165 | 250 | c.-20 others(259): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(243): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0008 | 2 | 364 | 0.0055 | 250 | c.-20 others(259): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(243): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(47): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0095a0001c0002t0002g0038others(21): Show | 50 | 364 | 0.1374 | 250 | c.-20 others(259): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(243): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0129 | 2 | 364 | 0.0055 | 250 | c.-20 others(259): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(243): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 364 | 0.0028 | 250 | c.-20 others(259): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2019227 | C | CGGGGGGA others(243): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 364 | 0.0028 | 250 | c.-19 others(259): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 117 | chr1 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46117780 | A | ATGTATAC others(243): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0080 | 1 | 308 | 0.0033 | 250 | c.104 others(267): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292413 | G | GATATATA others(243): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0090 | 1 | 366 | 0.0027 | 250 | c.220 others(267): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176046 | C | CTGCCAGC others(243): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18971.hp1 NA18973.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0002c0003t0006 | a0001c0002t0006g0026a0001c0002t0006g0169a0001c0002t0006g0173others(4): Show | 7 | 444 | 0.0158 | 250 | c.-40 others(263): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GALP_chr19_56171008_56190775 | 56176146 | C | CTGCCAGC others(243): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0280 | 1 | 444 | 0.0023 | 250 | c.-40 others(265): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GK_chrX_30648423_30736462 | 30663964 | T | TATATATA others(243): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0265a0001c0001t0002g0005a0001c0001t0002g0205others(43): Show | 47 | 286 | 0.1643 | 250 | c.79- others(265): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGGG others(243): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0145a0001c0001t0005g0173 | 2 | 188 | 0.0106 | 250 | c.229 others(269): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66683369 | T | TATGTTCA others(243): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 234 | 0.0043 | 250 | c.143 others(267): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPR157_chr1_9095305_9134102 | 9116180 | T | TTATATAT others(243): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0293 | 1 | 404 | 0.0025 | 250 | c.384 others(267): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074404 | T | TTATATTT others(243): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 208 | 0.0048 | 250 | c.-97 others(267): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR173_chrX_53043789_53085615 | 53074500 | A | ATATAAAT others(243): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19063.hp1 |
a0006a0010 | a0006c0010a0010c0009 | a0006c0010t0041a0010c0009t0012 | a0006c0010t0041g0127a0010c0009t0012g0157 | 2 | 208 | 0.0096 | 250 | c.-97 others(267): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | chrX | TogoVar | ||||||
GPSM1_chr9_136322539_136364601 | 136355150 | G | GGGTGACA others(243): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02922.hp1 HG02970.hp2 others(2): Show |
a0001a0002 | a0001c0006a0002c0004 | a0001c0006t0001a0002c0004t0001 | a0001c0006t0001g0086a0002c0004t0001g0031a0002c0004t0001g0342others(1): Show | 5 | 400 | 0.0125 | 250 | c.145 others(267): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CACATATA others(243): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0162 | 1 | 418 | 0.0024 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0156 | 1 | 418 | 0.0024 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | NA18967.hp2 NA18971.hp1 NA19054.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0152a0002c0002t0002g0153a0002c0002t0002g0155others(1): Show | 4 | 418 | 0.0096 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18977.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0154a0002c0002t0002g0189 | 2 | 418 | 0.0048 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0151 | 1 | 418 | 0.0024 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 2 | 418 | 0.0048 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 418 | 0.0024 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0196 | 1 | 418 | 0.0024 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 418 | 0.0024 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATG others(243): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0219 | 1 | 418 | 0.0024 | 250 | c.167 others(267): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GUCY1A2_chr11_106669019_107023476 | 106787587 | A | AGGAAGGG others(243): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02735.hp1 HG03239.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0002t0001g0192a0001c0002t0001g0204a0001c0002t0002g0198others(4): Show | 7 | 256 | 0.0273 | 250 | c.169 others(271): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 5/7 | chr11 | TogoVar | ||||||
GZMM_chr19_539053_554922 | 544760 | C | CGCCCGTC others(243): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 398 | 0.0025 | 250 | c.55+ others(263): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GZMM_chr19_539053_554922 | 544765 | G | GTCCACCC others(243): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02723.hp2 HG02738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0086a0001c0001t0001g0111others(5): Show | 9 | 398 | 0.0226 | 250 | c.55+ others(263): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HCN1_chr5_45249948_45701380 | 45376251 | A | AGAATATA others(243): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0007 | 1 | 226 | 0.0044 | 250 | c.123 others(271): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45376251 | A | AGAATATA others(243): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032 | a0001c0001t0031g0009a0001c0001t0032g0010 | 2 | 226 | 0.0089 | 250 | c.123 others(271): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313788 | G | GCGCCGCC others(243): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 330 | 0.0030 | 250 | c.124 others(265): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IGF2_chr11_2124117_2144389 | 2127170 | T | TGGAGGGA others(243): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0029 | 1 | 388 | 0.0026 | 250 | c.*58 others(261): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 1946 | chr11 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2127170 | T | TGGAGGGA others(243): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(56): Show | 103 | 388 | 0.2655 | 250 | c.*58 others(261): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 1946 | chr11 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2127170 | T | TGGAGGGA others(243): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01243.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0020a0001c0001t0040others(16): Show | a0001c0001t0006g0007a0001c0001t0006g0188a0001c0001t0020g0014others(19): Show | 30 | 388 | 0.0773 | 250 | c.*58 others(261): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 1946 | chr11 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGGGGC others(243): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 204 | 0.0049 | 250 | c.978 others(267): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5E_chr9_136423619_136444845 | 136431547 | G | GCCACGCC others(243): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 382 | 0.0026 | 250 | c.154 others(267): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(243): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0043 | a0001c0043t0004 | a0001c0043t0004g0063 | 1 | 282 | 0.0036 | 250 | c.258 others(267): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(243): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 344 | 0.0029 | 250 | c.25- others(265): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IRAG2_chr12_25047706_25113335 | 25106550 | G | GTACAGTA others(243): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02895.hp1 HG03453.hp1 others(2): Show |
a0003a0006 | a0003c0003a0006c0005 | a0003c0003t0002a0006c0005t0001 | a0003c0003t0002g0093a0003c0003t0002g0127a0006c0005t0001g0064others(2): Show | 5 | 344 | 0.0145 | 250 | c.114 others(267): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ITGA3_chr17_50051110_50095481 | 50086190 | T | TTATATAT others(243): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01069.hp1 others(56): Show |
a0001a0009a0010 | a0001c0001a0001c0014a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(5): Show | a0001c0001t0001g0351a0001c0001t0002g0047a0001c0001t0002g0048others(56): Show | 59 | 402 | 0.1468 | 250 | c.292 others(269): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15415541 | C | CCCGGGCA others(243): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01071.hp1 others(21): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0003t0003others(6): Show | a0001c0001t0001g0081a0001c0002t0004g0035a0001c0003t0003g0034others(21): Show | 24 | 284 | 0.0845 | 250 | c.323 others(267): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15415541 | C | CCCGGGCA others(243): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 284 | 0.0035 | 250 | c.323 others(267): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |