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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0021others(2): Show | 5 | 143 | 0.0350 | 672 | c.*35 others(683): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0045 | 1 | 143 | 0.0070 | 672 | c.*35 others(683): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01361.hp2 HG02040.hp2 others(14): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0008others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0005others(4): Show | a0001c0002t0001g0017a0001c0002t0001g0038a0001c0002t0001g0070others(14): Show | 17 | 143 | 0.1189 | 672 | c.*35 others(683): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(665): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 143 | 0.0070 | 672 | c.*35 others(683): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113824323 | C | CGGTCTGG others(665): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0002 | 1 | 143 | 0.0070 | 672 | c.147 others(689): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113824415 | C | CGCGCGGT others(665): Show |
intron_variant | MODIFIER | NA19064.hp2 NA19091.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044a0001c0003t0001g0045 | 2 | 143 | 0.0140 | 672 | c.147 others(689): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0043 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 NA18948.hp1 NA19006.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 422 | 0.0119 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0040 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG01070.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 23 | 422 | 0.0545 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(665): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795610 | C | CCCCCGGC others(665): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 672 | c.*31 others(683): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2430 | chr16 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55032975 | T | TAGACGCG others(665): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 441 | 0.0023 | 672 | c.35- others(685): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55033052 | T | TAGACGCG others(665): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 441 | 0.0023 | 672 | c.35- others(685): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(665): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 208 | 0.0048 | 672 | c.-97 others(689): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(665): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0162 | 1 | 208 | 0.0048 | 672 | c.-97 others(689): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626087 | G | GTGATGGG others(665): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 400 | 0.0025 | 672 | c.-5+ others(685): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(665): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0005 | a0005c0002 | a0005c0002t0001 | a0005c0002t0001g0142 | 1 | 308 | 0.0033 | 672 | c.534 others(689): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(665): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0020 | a0020c0039 | a0020c0039t0009 | a0020c0039t0009g0050 | 1 | 308 | 0.0033 | 672 | c.534 others(689): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(665): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0063 | 1 | 308 | 0.0033 | 672 | c.534 others(689): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(665): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG02055.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0008a0001c0002t0027a0001c0003t0008others(1): Show | a0001c0002t0008g0031a0001c0002t0027g0113a0001c0003t0008g0068others(1): Show | 4 | 114 | 0.0351 | 672 | c.*80 others(683): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152758 | T | TCACCACT others(665): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0046 | 1 | 274 | 0.0037 | 672 | c.804 others(689): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
IDE_chr10_92446684_92579093 | 92524517 | A | ATATATTA others(665): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 314 | 0.0032 | 672 | c.661 others(689): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161832 | A | ACACCCCT others(665): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 376 | 0.0027 | 672 | c.-68 others(681): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 624 | chr11 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163304 | C | CCCTCCCT others(665): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01361.hp2 HG02257.hp1 |
a0002a0009a0012 | a0002c0001a0009c0020a0012c0023 | a0002c0001t0001a0009c0020t0001a0012c0023t0018 | a0002c0001t0001g0202a0009c0020t0001g0211a0012c0023t0018g0276 | 3 | 282 | 0.0106 | 672 | c.258 others(689): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9406303 | G | GTGTGTGT others(665): Show |
3_prime_UTR_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0206 | a0001c0001t0206g0169 | 1 | 276 | 0.0036 | 672 | c.*53 others(681): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 530 | chr2 | TogoVar | |||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(665): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0356 | 1 | 374 | 0.0027 | 672 | c.735 others(689): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(665): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0149 | 2 | 286 | 0.0070 | 672 | c.*52 others(683): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(665): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01928.hp1 HG02004.hp1 others(15): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0024others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0092others(15): Show | 18 | 286 | 0.0629 | 672 | c.*52 others(683): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(665): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 |
a0003a0024 | a0003c0002a0024c0021 | a0003c0002t0002a0024c0021t0005 | a0003c0002t0002g0083a0024c0021t0005g0014 | 2 | 88 | 0.0227 | 672 | c.507 others(691): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113314584 | G | GTGTGCCT others(665): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 354 | 0.0028 | 672 | c.562 others(689): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACC others(665): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0110 | 1 | 262 | 0.0038 | 672 | c.212 others(691): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LMF1_chr16_848634_975984 | 859688 | C | CGGGTGTG others(665): Show |
intron_variant | MODIFIER | HG02083.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0226 | 2 | 294 | 0.0068 | 672 | c.153 others(691): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(665): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0297 | 1 | 448 | 0.0022 | 672 | c.*56 others(683): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(665): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG03486.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0229a0002c0003t0001g0354 | 2 | 448 | 0.0045 | 672 | c.*56 others(683): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(665): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0016 | 1 | 448 | 0.0022 | 672 | c.*56 others(683): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(665): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0316 | 1 | 448 | 0.0022 | 672 | c.*56 others(683): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(665): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 334 | 0.0030 | 672 | c.-28 others(691): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(665): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 | 1 | 334 | 0.0030 | 672 | c.-28 others(691): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(665): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 288 | 0.0035 | 672 | c.-32 others(683): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | ||||||
MEI1_chr22_41694503_41804454 | 41759633 | A | AAATAAAT others(665): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 HG03098.hp2 others(3): Show |
a0005a0011 | a0005c0007a0011c0014 | a0005c0007t0004a0011c0014t0004 | a0005c0007t0004g0009a0005c0007t0004g0010a0005c0007t0004g0011others(3): Show | 6 | 260 | 0.0231 | 672 | c.212 others(691): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43500184 | A | ATGATGGT others(665): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 250 | 0.0040 | 672 | c.748 others(689): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |