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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3964): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 153 | 0.0065 | 3971 | c.859 others(3988): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3964): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 3971 | c.*14 others(3982): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
LRRC4C_chr11_40109209_41464652 | 40819720 | T | TGAAAATT others(3964): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 48 | 0.0208 | 3971 | c.-40 others(3994): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3965): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0148 | 1 | 8 | 0.1250 | 3972 | c.723 others(3989): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3965): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 283 | 0.0035 | 3972 | c.112 others(3989): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3965): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 283 | 0.0035 | 3972 | c.112 others(3989): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586538 | C | CAAAGGTG others(3966): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0108 | 1 | 198 | 0.0051 | 3973 | c.157 others(3990): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318239 | G | GGGAAGGG others(3966): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0086 | a0086c0108 | a0086c0108t0001 | a0086c0108t0001g0104 | 1 | 184 | 0.0054 | 3973 | c.723 others(3990): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3966): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 283 | 0.0035 | 3973 | c.112 others(3990): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(3966): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0174 | 1 | 82 | 0.0122 | 3973 | c.147 others(3990): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
CD44_chr11_35134171_35237402 | 35221379 | A | AGTCATCC others(3967): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 376 | 0.0027 | 3974 | c.194 others(3991): Show |
CD44 | ENSG00000026508.21 | transcript | ENST00000428726.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3967): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 | 1 | 8 | 0.1250 | 3974 | c.-45 others(3983): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3968): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02040.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0287 a0001c0001t0001g0299 |
4 | 156 | 0.0256 | 3975 | c.859 others(3992): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947813 | G | GTGGTGGT others(3968): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0061 | 1 | 61 | 0.0164 | 3975 | c.47- others(3992): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3970): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 8 | 0.1250 | 3977 | c.-45 others(3986): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3971): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0024a0001c0001t0040others(12): Show | a0001c0001t0004g0046 a0001c0001t0024g0004 a0001c0001t0040g0038 others(13): Show |
16 | 19 | 0.8421 | 3978 | c.268 others(3999): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3971): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0008 | a0001c0008t0013 | a0001c0008t0013g0074 | 1 | 4 | 0.2500 | 3978 | c.268 others(3999): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0020 | 1 | 4 | 0.2500 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 4 | 0.2500 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0009 | 1 | 4 | 0.2500 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0005g0102 others(39): Show |
42 | 45 | 0.9333 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG02015.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0051a0001c0002t0001others(3): Show | a0001c0001t0002g0079 a0001c0001t0051g0053 a0001c0002t0001g0032 others(3): Show |
6 | 9 | 0.6667 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0042 | 1 | 4 | 0.2500 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0004 | a0001c0004t0068 | a0001c0004t0068g0071 | 1 | 4 | 0.2500 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0008a0001c0001t0030a0001c0002t0006others(4): Show | a0001c0001t0008g0073 a0001c0001t0030g0091 a0001c0002t0006g0119 others(4): Show |
7 | 10 | 0.7000 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01069.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0018a0001c0001t0042others(15): Show | a0001c0001t0003g0093 a0001c0001t0018g0041 a0001c0001t0042g0059 others(15): Show |
18 | 21 | 0.8571 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0069 | a0001c0003t0069g0012 | 1 | 4 | 0.2500 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3972): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0013 | 1 | 4 | 0.2500 | 3979 | c.268 others(4000): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(3972): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 3 | 0.3333 | 3979 | c.-34 others(3994): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(3973): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 165 | 0.0061 | 3980 | c.654 others(3999): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3973): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02895.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0013a0001c0002t0063a0001c0003t0027others(5): Show | a0001c0001t0013g0006 a0001c0002t0063g0050 a0001c0003t0027g0047 others(5): Show |
8 | 11 | 0.7273 | 3980 | c.268 others(4001): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3973): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0007 | 1 | 4 | 0.2500 | 3980 | c.268 others(4001): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3973): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0118 | 1 | 4 | 0.2500 | 3980 | c.268 others(4001): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(3974): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 233 | 0.0043 | 3981 | c.366 others(3998): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3974): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0026 | 1 | 8 | 0.1250 | 3981 | c.723 others(3998): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3974): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 8 | 0.1250 | 3981 | c.723 others(3998): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3975): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0100 | 1 | 4 | 0.2500 | 3982 | c.268 others(4003): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(3975): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 261 | 0.0038 | 3982 | c.157 others(3997): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(3975): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 4 | 0.2500 | 3982 | c.296 others(3999): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25812490 | T | TTTCTGAG others(3976): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02976.hp2 HG03041.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0048a0001c0001t0072a0001c0007t0001others(6): Show | a0001c0001t0048g0122 a0001c0001t0072g0027 a0001c0007t0001g0081 others(6): Show |
9 | 12 | 0.7500 | 3983 | c.268 others(4004): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3977): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0019 | 1 | 8 | 0.1250 | 3984 | c.-45 others(3993): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3977): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 8 | 0.1250 | 3984 | c.-45 others(3993): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3977): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 3984 | c.-45 others(3993): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3977): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0159 | 1 | 8 | 0.1250 | 3984 | c.-45 others(3993): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3978): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0091 | a0091c0098 | a0091c0098t0001 | a0091c0098t0001g0117 | 1 | 8 | 0.1250 | 3985 | c.723 others(4002): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12775124 | A | ATCAGGTG others(3979): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0010 | 1 | 214 | 0.0047 | 3986 | c.565 others(4003): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3979): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0070 | a0070c0088 | a0070c0088t0001 | a0070c0088t0001g0011 | 1 | 8 | 0.1250 | 3986 | c.723 others(4003): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3979): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 8 | 0.1250 | 3986 | c.-45 others(3995): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3979): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 8 | 0.1250 | 3986 | c.-45 others(3995): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811221 | C | CTTCCCTA others(3979): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0136 | 1 | 164 | 0.0061 | 3986 | c.773 others(4001): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |