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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1029): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18962.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0275 a0002c0003t0001g0142 |
2 | 9 | 0.2222 | 1036 | c.285 others(1055): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1029): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0112 a0001c0001t0012g0252 |
2 | 9 | 0.2222 | 1036 | c.285 others(1055): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758393 | A | ACTCATTC others(1029): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0081 | 1 | 276 | 0.0036 | 1036 | c.655 others(1055): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(1029): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0018 | 1 | 223 | 0.0045 | 1036 | c.*36 others(1047): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411302 | T | TCACTGCT others(1029): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0042 | 1 | 171 | 0.0058 | 1036 | c.-23 others(1047): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2156 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1129301 | C | CCGGGCTG others(1029): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0250 a0001c0001t0005g0251 |
2 | 321 | 0.0062 | 1036 | c.-1- others(1051): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138126361 | A | ACGAGGCC others(1029): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0042 | a0001c0042t0005 | a0001c0042t0005g0239 | 1 | 131 | 0.0076 | 1036 | c.*43 others(1047): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1743 | chr9 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(1029): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0030 | 1 | 39 | 0.0256 | 1036 | c.449 others(1053): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGAC others(1029): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0114 | 1 | 8 | 0.1250 | 1036 | c.328 others(1053): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1029): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0034 | a0005c0034t0009 | a0005c0034t0009g0195 | 1 | 13 | 0.0769 | 1036 | c.109 others(1055): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933856 | G | GTGAGCGG others(1029): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0340 | 1 | 376 | 0.0027 | 1036 | c.198 others(1051): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1029): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0142 | a0142c0093 | a0142c0093t0001 | a0142c0093t0001g0089 | 1 | 98 | 0.0102 | 1036 | c.118 others(1055): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(1029): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0124 | a0124c0065 | a0124c0065t0001 | a0124c0065t0001g0215 | 1 | 241 | 0.0041 | 1036 | c.118 others(1055): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01192.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0013 a0001c0004t0001g0074 |
2 | 182 | 0.0110 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 181 | 0.0055 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA18971.hp1 NA19057.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 a0001c0003t0001g0172 a0001c0003t0001g0188 |
3 | 183 | 0.0164 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0168 | 1 | 181 | 0.0055 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(13): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0038 others(6): Show |
16 | 196 | 0.0816 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 181 | 0.0055 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3316036 | A | ATCACCAC others(1029): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0104 | 1 | 231 | 0.0043 | 1036 | c.259 others(1055): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(1029): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02486.hp2 HG02622.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0002c0004others(4): Show | a0001c0001t0002a0001c0011t0010a0002c0004t0003others(6): Show | a0001c0001t0002g0099 a0001c0011t0010g0053 a0001c0011t0010g0116 others(9): Show |
12 | 13 | 0.9231 | 1036 | c.928 others(1053): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355476 | G | GAAGGAGG others(1029): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 80 | 0.0125 | 1036 | c.758 others(1051): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(1029): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG01496.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0218 others(6): Show |
9 | 196 | 0.0459 | 1036 | c.571 others(1053): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1029): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0055 | 1 | 137 | 0.0073 | 1036 | c.-14 others(1055): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1029): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0133 | 1 | 275 | 0.0036 | 1036 | c.467 others(1051): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1029): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02132.hp1 NA18962.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0002t0001g0125 a0001c0002t0002g0033 a0001c0002t0007g0143 others(1): Show |
5 | 279 | 0.0179 | 1036 | c.467 others(1051): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240625974 | T | TGGGGGTC others(1029): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 369 | 0.0027 | 1036 | c.-5+ others(1049): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315730 | G | GACACAGA others(1029): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0084 | 1 | 68 | 0.0147 | 1036 | c.488 others(1051): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1029): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0042 | 1 | 132 | 0.0076 | 1036 | c.94- others(1049): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 531062 | C | CGAGTGTG others(1029): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 328 | 0.0030 | 1036 | c.*14 others(1047): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1179 | chr11 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132552672 | A | AGGATAGG others(1029): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 201 | 0.0050 | 1036 | c.75+ others(1053): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7153367 | C | CCACACAC others(1029): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0067 | 1 | 9 | 0.1111 | 1036 | c.203 others(1053): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1029): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 170 | 0.0059 | 1036 | c.-30 others(1047): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186102 | G | GGAGGAAC others(1029): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 271 | 0.0037 | 1036 | c.*30 others(1047): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2887 | chr16 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 56019508 | T | TTCTCATT others(1029): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0144 | 1 | 390 | 0.0026 | 1036 | c.623 others(1049): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(1029): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 154 | 0.0065 | 1036 | c.360 others(1055): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 309747 | C | CCCAGTGA others(1029): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 a0001c0001t0002g0078 |
2 | 339 | 0.0059 | 1036 | c.368 others(1053): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309783 | T | TGGCCGCC others(1029): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 350 | 0.0029 | 1036 | c.368 others(1053): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309783 | T | TGGCCGCC others(1029): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 350 | 0.0029 | 1036 | c.368 others(1053): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACAC others(1029): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02922.hp2 HG02976.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025a0001c0001t0034 | a0001c0001t0011g0024 a0001c0001t0011g0032 a0001c0001t0011g0035 others(7): Show |
10 | 145 | 0.0690 | 1036 | c.127 others(1053): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1029): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0159 | 1 | 133 | 0.0075 | 1036 | c.533 others(1053): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1029): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0048 | 1 | 133 | 0.0075 | 1036 | c.533 others(1053): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273519 | C | CTTCAGGG others(1029): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0074 | 1 | 88 | 0.0114 | 1036 | c.438 others(1053): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(1029): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0048 | 1 | 102 | 0.0098 | 1036 | c.351 others(1055): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1029): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0005 | a0005c0022 | a0005c0022t0001 | a0005c0022t0001g0128 | 1 | 121 | 0.0083 | 1036 | c.167 others(1051): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148700 | T | TCCTCCTT others(1029): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 65 | 0.0154 | 1036 | c.167 others(1051): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1029): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 28 | 0.0357 | 1036 | c.-50 others(1047): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377549 | T | TCTGTGCC others(1029): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 | 1 | 333 | 0.0030 | 1036 | c.-15 others(1047): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1524 | chr19 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(1029): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 1036 | c.*29 others(1047): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 50 | 0.0200 | 1036 | c.*24 others(1047): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar |