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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPEP1_chr16_89608642_89643433 | 89619511 | CTCCCTGC others(30): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 248 | 0.0040 | -37 | c.-10 others(56): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137551669 | CGCCCCGC others(30): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 302 | 0.0033 | -37 | c.*35 others(48): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 2774 | chr9 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4670492 | TGTCGAGG others(30): Show |
T | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0234 | 1 | 312 | 0.0032 | -37 | c.*60 others(48): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 4734 | chr19 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97724296 | GGGGGGGG others(30): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 7 | 0.1429 | -37 | c.322 others(54): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31526688 | GGGAAGGG others(30): Show |
G | frameshift_variant | HIGH | NA19001.hp1 | a0008 | a0008c0036 | a0008c0036t0003 | a0008c0036t0003g0068 | 1 | 320 | 0.0031 | -37 | c.208 others(44): Show |
p.Asn others(4): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 5/36 | 597/5416 | 208/4125 | 70/1374 | chr5 | TogoVar | |||
DSCAML1_chr11_117422772_117802216 | 117577437 | TTTCCTTC others(30): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00738.hp2 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0008a0001c0011others(29): Show | a0001c0005t0001a0001c0008t0001a0001c0011t0001others(36): Show | a0001c0005t0001g0046 a0001c0005t0001g0087 a0001c0008t0001g0097 others(54): Show |
57 | 127 | 0.4488 | -37 | c.512 others(56): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56720886 | TGGCGGCC others(30): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG02280.hp1 others(5): Show |
a0006a0007a0009others(2): Show | a0006c0007a0007c0053a0009c0049others(3): Show | a0006c0007t0001a0007c0053t0001a0009c0049t0001others(3): Show | a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0071 others(5): Show |
8 | 82 | 0.0976 | -37 | c.687 others(56): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DUSP13_chr10_75089436_75104512 | 75100801 | GGTCACTC others(30): Show |
G | upstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -37 | c.-14 others(48): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1290 | chr10 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509232 | CTATATAC others(30): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 414 | 0.0024 | -37 | c.-18 others(56): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP8_chr11_1549051_1577271 | 1550452 | TCCCTCCC others(30): Show |
T | downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0150 | 1 | 364 | 0.0027 | -37 | c.*60 others(48): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 3598 | chr11 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57171956 | GCTGGGGT others(30): Show |
G | upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 429 | 0.0023 | -37 | c.-45 others(48): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4472 | chr19 | TogoVar | |||||||
DUXB_chr16_75688893_75706461 | 75696763 | GCTTCTGA others(30): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 420 | 0.0024 | -37 | c.286 others(50): Show |
DUXB | ENSG00000282757.4 | transcript | ENST00000633875.4 | protein_coding | 3/4 | chr16 | TogoVar | |||||||
DYNC1I1_chr7_95767554_96103424 | 96097354 | TTCCTTTA others(30): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 228 | 0.0044 | -37 | c.177 others(53): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DZIP1L_chr3_138056990_138120608 | 138091673 | GAGGGAGG others(30): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0154 | 1 | 310 | 0.0032 | -37 | c.870 others(52): Show |
DZIP1L | ENSG00000158163.15 | transcript | ENST00000327532.7 | protein_coding | 5/15 | chr3 | TogoVar | |||||||
DZIP3_chr3_108584722_108699840 | 108633875 | ATCTCTCT others(30): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 others(1): Show |
4 | 289 | 0.0138 | -37 | c.816 others(52): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52485446 | GGATATGG others(30): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 |
a0001 | a0001c0010 | a0001c0010t0050a0001c0010t0052 | a0001c0010t0050g0204 a0001c0010t0052g0207 |
2 | 393 | 0.0051 | -37 | c.164 others(56): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44316885 | AAGACCGT others(30): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 219 | 0.0046 | -37 | c.43- others(52): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | |||||||
EHD2_chr19_47708422_47748134 | 47718862 | TGGGGTCT others(30): Show |
T | intron_variant | MODIFIER | HG02572.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0171 a0001c0002t0004g0172 |
2 | 370 | 0.0054 | -37 | c.502 others(52): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137723194 | TGTGGTTC others(30): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG03130.hp2 NA19240.hp1 |
a0001 | a0001c0004a0001c0006a0001c0008 | a0001c0004t0001a0001c0006t0001a0001c0008t0001 | a0001c0004t0001g0157 a0001c0006t0001g0152 a0001c0008t0001g0156 |
3 | 145 | 0.0207 | -37 | c.643 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF3H_chr8_116637130_116760823 | 116752731 | AGAAGAGA others(30): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0306 | 1 | 333 | 0.0030 | -37 | c.132 others(54): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20816124 | AGCCGCCC others(30): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG01993.hp1 NA18964.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0104 a0001c0001t0001g0161 a0001c0001t0001g0162 others(2): Show |
5 | 310 | 0.0161 | -37 | c.451 others(56): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 34/36 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3311355 | TGATTTCT others(30): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 248 | 0.0040 | -37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315261 | ATCACCAC others(30): Show |
A | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 244 | 0.0041 | -37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315814 | CTCACCAC others(30): Show |
C | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 86 | 0.0116 | -37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315947 | CCCCCTAC others(30): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 244 | 0.0041 | -37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELFN2_chr22_37362960_37432479 | 37399483 | CCACCTCT others(30): Show |
C | intron_variant | MODIFIER | NA19089.hp1 | a0006 | a0006c0014 | a0006c0014t0004 | a0006c0014t0004g0034 | 1 | 332 | 0.0030 | -37 | c.-46 others(58): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73975553 | AGGTATTT others(30): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 402 | 0.0025 | -37 | c.-35 others(48): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3363 | chr8 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11043430 | CACAGCTT others(30): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG03579.hp2 |
a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0198 a0002c0004t0016g0199 |
2 | 378 | 0.0053 | -37 | c.3+7 others(48): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 48023488 | GAGGGAGG others(30): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(29): Show |
a0002a0008a0013 | a0002c0002a0008c0009a0013c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0009others(2): Show | a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0054 others(29): Show |
32 | 386 | 0.0829 | -37 | c.*7+ others(52): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796577 | TTATATAT others(30): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp1 HG03098.hp2 HG03139.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0017a0002c0002t0003a0004c0007t0016 | a0001c0001t0017g0011 a0002c0002t0003g0031 a0004c0007t0016g0007 others(1): Show |
4 | 330 | 0.0121 | -37 | c.-41 others(48): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3625 | chr14 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225615525 | CCCTCTTC others(30): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0108 | 1 | 306 | 0.0033 | -37 | c.5+3 others(52): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666974 | GAGATGGA others(30): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0003 | a0003c0004 | a0003c0004t0029 | a0003c0004t0029g0348 | 1 | 366 | 0.0027 | -37 | c.*72 others(48): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3343 | chr18 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137440522 | CCCCCCAG others(30): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0016 a0001c0022t0001g0038 |
4 | 385 | 0.0104 | -37 | c.-21 others(52): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137440927 | GCCCCCCC others(30): Show |
G | intron_variant | MODIFIER | NA18942.hp1 NA18983.hp1 NA19067.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0003c0003t0002g0018 |
4 | 387 | 0.0103 | -37 | c.-21 others(52): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137440964 | TCCCCCAG others(30): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0019 | 1 | 207 | 0.0048 | -37 | c.-21 others(52): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41167581 | TGTGTATA others(30): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 298 | 0.0034 | -37 | c.387 others(54): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | chr22 | TogoVar | |||||||
EPS8L1_chr19_55070869_55092923 | 55071499 | TAGCCCCT others(30): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01167.hp2 others(18): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0039 others(8): Show |
21 | 338 | 0.0621 | -37 | c.-44 others(48): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4369 | chr19 | TogoVar | |||||||
EPS8L1_chr19_55070869_55092923 | 55071522 | GGAGTCCA others(30): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02723.hp2 others(3): Show |
a0002a0005a0009 | a0002c0002a0005c0005a0009c0013 | a0002c0002t0001a0005c0005t0001a0009c0013t0001 | a0002c0002t0001g0036 a0005c0005t0001g0020 a0009c0013t0001g0069 |
6 | 338 | 0.0178 | -37 | c.-44 others(48): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4346 | chr19 | TogoVar | |||||||
EPS8L1_chr19_55070869_55092923 | 55078283 | AGAGGGGC others(30): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(5): Show |
23 | 337 | 0.0682 | -37 | c.58+ others(50): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078371 | CCTGGACT others(30): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01981.hp2 others(8): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0010 a0004c0004t0001g0084 a0004c0004t0001g0085 others(2): Show |
11 | 321 | 0.0343 | -37 | c.58+ others(50): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078630 | GCTGGACT others(30): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 HG03688.hp1 others(1): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0010 | a0002c0002t0001a0003c0003t0001a0007c0010t0001 | a0002c0002t0001g0052 a0002c0002t0001g0060 a0003c0003t0001g0135 others(1): Show |
4 | 284 | 0.0141 | -37 | c.59- others(50): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078741 | TCTGGACT others(30): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 265 | 0.0038 | -37 | c.59- others(50): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078838 | GGAGGGGC others(30): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 |
a0003a0007 | a0003c0003a0007c0010 | a0003c0003t0001a0007c0010t0001 | a0003c0003t0001g0135 a0007c0010t0001g0134 |
2 | 210 | 0.0095 | -37 | c.59- others(50): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212015042 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 38 | 0.0263 | -37 | c.235 others(56): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212079536 | TAATAACC others(30): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0002t0016 | a0001c0001t0003g0017 a0001c0001t0012g0001 a0001c0002t0016g0019 |
3 | 56 | 0.0536 | -37 | c.234 others(56): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55720198 | TCTTCTTC others(30): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 72 | 0.0139 | -37 | c.271 others(58): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55720206 | TTCTTCTT others(30): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0013 a0001c0001t0003g0044 a0001c0002t0001g0006 others(1): Show |
4 | 61 | 0.0656 | -37 | c.271 others(58): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44234190 | CCAATAAT others(30): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(1): Show |
4 | 338 | 0.0118 | -37 | c.932 others(56): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44342831 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 338 | 0.0030 | -37 | c.212 others(54): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
ESCO2_chr8_27769554_27810316 | 27802620 | AAAAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0025 | a0001c0001t0006g0072 a0001c0001t0014g0030 a0001c0001t0014g0054 others(3): Show |
6 | 377 | 0.0159 | -37 | c.167 others(54): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |