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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(6220): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 178 | 0.0056 | 6227 | c.773 others(6242): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6220): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0156 |
2 | 328 | 0.0061 | 6227 | c.118 others(6246): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6220): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 328 | 0.0031 | 6227 | c.118 others(6246): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6220): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 328 | 0.0031 | 6227 | c.118 others(6246): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(6221): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0099 | 1 | 170 | 0.0059 | 6228 | c.86- others(6239): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6221): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0008 | a0008c0082 | a0008c0082t0001 | a0008c0082t0001g0171 | 1 | 364 | 0.0028 | 6228 | c.106 others(6245): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6221): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0008 | a0008c0055 | a0008c0055t0002 | a0008c0055t0002g0046 | 1 | 364 | 0.0028 | 6228 | c.106 others(6245): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6221): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 NA18956.hp1 NA18957.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0105 others(2): Show |
5 | 120 | 0.0417 | 6228 | c.*89 others(6239): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6221): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 120 | 0.0083 | 6228 | c.*89 others(6239): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6221): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0174 others(1): Show |
4 | 328 | 0.0122 | 6228 | c.118 others(6247): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6221): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01358.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 others(7): Show |
10 | 328 | 0.0305 | 6228 | c.118 others(6247): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6221): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02451.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 others(5): Show |
8 | 328 | 0.0244 | 6228 | c.118 others(6247): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6222): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 120 | 0.0083 | 6229 | c.*89 others(6240): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6222): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0073 |
3 | 120 | 0.0250 | 6229 | c.*89 others(6240): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6222): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 328 | 0.0031 | 6229 | c.118 others(6248): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6222): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 others(3): Show |
6 | 328 | 0.0183 | 6229 | c.118 others(6248): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6222): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 328 | 0.0031 | 6229 | c.118 others(6248): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(6223): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0183 | 1 | 390 | 0.0026 | 6230 | c.109 others(6245): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6223): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 120 | 0.0083 | 6230 | c.*89 others(6241): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6223): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 a0001c0001t0003g0271 |
2 | 328 | 0.0061 | 6230 | c.118 others(6249): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6223): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 328 | 0.0031 | 6230 | c.118 others(6249): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(6223): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 404 | 0.0025 | 6230 | c.340 others(6247): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6225): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 120 | 0.0083 | 6232 | c.*89 others(6243): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6225): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 120 | 0.0083 | 6232 | c.*89 others(6243): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241163827 | A | AAAAGAGG others(6225): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 112 | 0.0089 | 6232 | c.79- others(6249): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241163827 | A | AAAAGAGG others(6226): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 112 | 0.0089 | 6233 | c.79- others(6250): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6227): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0072 a0001c0001t0019g0090 |
2 | 120 | 0.0167 | 6234 | c.*89 others(6245): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6227): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0083 | 1 | 120 | 0.0083 | 6234 | c.*89 others(6245): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6228): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0100 | 1 | 120 | 0.0083 | 6235 | c.*89 others(6246): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(6230): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 276 | 0.0036 | 6237 | c.*52 others(6248): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6230): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 120 | 0.0083 | 6237 | c.*89 others(6248): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948305 | C | CTGTTGGT others(6231): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0083 | 1 | 136 | 0.0074 | 6238 | c.47- others(6255): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6231): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0208 |
2 | 328 | 0.0061 | 6238 | c.118 others(6257): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6232): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 328 | 0.0031 | 6239 | c.118 others(6258): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6232): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 a0001c0001t0001g0256 |
2 | 328 | 0.0061 | 6239 | c.118 others(6258): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646430 | T | TCCACCTC others(6233): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0173 | 1 | 180 | 0.0056 | 6240 | c.-35 others(6261): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6233): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 328 | 0.0031 | 6240 | c.118 others(6259): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6233): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 328 | 0.0031 | 6240 | c.118 others(6259): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6233): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 328 | 0.0031 | 6240 | c.118 others(6259): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6235): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0341 | 1 | 364 | 0.0028 | 6242 | c.106 others(6259): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6235): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082 | 1 | 120 | 0.0083 | 6242 | c.*89 others(6253): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6235): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 a0001c0001t0005g0071 |
2 | 328 | 0.0061 | 6242 | c.118 others(6261): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6236): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0170 | 1 | 364 | 0.0028 | 6243 | c.106 others(6260): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6236): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0340 | 1 | 364 | 0.0028 | 6243 | c.106 others(6260): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6236): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 328 | 0.0031 | 6243 | c.118 others(6262): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6236): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 a0001c0001t0005g0070 a0001c0001t0005g0072 others(1): Show |
4 | 328 | 0.0122 | 6243 | c.118 others(6262): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6236): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0261 | 1 | 328 | 0.0031 | 6243 | c.118 others(6262): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6237): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0164 | 1 | 364 | 0.0028 | 6244 | c.106 others(6261): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6237): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0339 | 1 | 364 | 0.0028 | 6244 | c.106 others(6261): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6237): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 328 | 0.0031 | 6244 | c.118 others(6263): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar |