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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2020): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 146 | 0.0068 | 2027 | c.114 others(2044): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2020): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 356 | 0.0028 | 2027 | c.341 others(2044): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2021): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0046 | 1 | 44 | 0.0227 | 2028 | c.108 others(2045): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2021): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039 | 1 | 294 | 0.0034 | 2028 | c.147 others(2045): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2021): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0103 | 1 | 254 | 0.0039 | 2028 | c.109 others(2043): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500695 | T | TGTGTGTT others(2021): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0182 | 1 | 226 | 0.0044 | 2028 | c.268 others(2047): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(2021): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0008 | a0008c0011 | a0008c0011t0003 | a0008c0011t0003g0088 | 1 | 45 | 0.0222 | 2028 | c.289 others(2047): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(2021): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 215 | 0.0047 | 2028 | c.157 others(2043): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(2021): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0006 | a0001c0006t0033 | a0001c0006t0033g0057 | 1 | 117 | 0.0085 | 2028 | c.*11 others(2049): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(2021): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0006 | a0006c0006 | a0006c0006t0060 | a0006c0006t0060g0284 | 1 | 83 | 0.0120 | 2028 | c.377 others(2045): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2021): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165 | 1 | 207 | 0.0048 | 2028 | c.715 others(2045): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2021): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 207 | 0.0048 | 2028 | c.715 others(2045): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646118 | A | ACCACCTC others(2021): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 158 | 0.0063 | 2028 | c.-35 others(2049): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590992 | T | TTGGCTGA others(2021): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 383 | 0.0026 | 2028 | c.161 others(2047): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590992 | T | TTGGCTGA others(2021): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0154 a0002c0005t0001g0155 |
2 | 384 | 0.0052 | 2028 | c.161 others(2047): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2021): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 146 | 0.0068 | 2028 | c.114 others(2045): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2022): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0242 | 1 | 40 | 0.0250 | 2029 | c.179 others(2050): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(2022): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 350 | 0.0029 | 2029 | c.666 others(2044): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2022): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 22 | 0.0455 | 2029 | c.-90 others(2044): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GET4_chr7_871554_901436 | 890098 | C | CGGGGCCT others(2022): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 258 | 0.0039 | 2029 | c.467 others(2044): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890098 | C | CGGGGCCT others(2022): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0124 | 1 | 258 | 0.0039 | 2029 | c.467 others(2044): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890098 | C | CGGGGCCT others(2022): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 258 | 0.0039 | 2029 | c.467 others(2044): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914638 | T | TCCCTCCC others(2022): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0245 | 1 | 292 | 0.0034 | 2029 | c.515 others(2046): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811266 | T | TTCCCTCC others(2022): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0113 | 1 | 155 | 0.0065 | 2029 | c.773 others(2044): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2022): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 28 | 0.0357 | 2029 | c.-50 others(2040): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870297 | C | CACCACAC others(2022): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 96 | 0.0104 | 2029 | c.*35 others(2048): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714957 | T | TAACCACT others(2023): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0029 | a0001c0029t0005 | a0001c0029t0005g0108 | 1 | 267 | 0.0037 | 2030 | c.127 others(2047): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2023): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 50 | 0.0200 | 2030 | c.147 others(2047): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2023): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0075 | 1 | 30 | 0.0333 | 2030 | c.445 others(2045): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(2023): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0166 | 1 | 13 | 0.0769 | 2030 | c.109 others(2049): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2023): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 132 | 0.0076 | 2030 | c.-90 others(2045): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2023): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 22 | 0.0455 | 2030 | c.-90 others(2045): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2023): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 22 | 0.0455 | 2030 | c.-90 others(2045): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2023): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 22 | 0.0455 | 2030 | c.-90 others(2045): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232097 | T | TCACCACT others(2023): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0313 | 1 | 361 | 0.0028 | 2030 | c.513 others(2047): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2023): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0137 | 1 | 43 | 0.0233 | 2030 | c.-12 others(2051): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2023): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 43 | 0.0233 | 2030 | c.-12 others(2051): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325187 | G | GGGGCGGG others(2023): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0118 | 1 | 149 | 0.0067 | 2030 | c.531 others(2047): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
YEATS2_chr3_183692797_183817624 | 183715278 | T | TAGGAAAT others(2023): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0011 | a0011c0027 | a0011c0027t0002 | a0011c0027t0002g0310 | 1 | 304 | 0.0033 | 2030 | c.100 others(2043): Show |
YEATS2 | ENSG00000163872.16 | transcript | ENST00000305135.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2024): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0005 | a0005c0006 | a0005c0006t0018 | a0005c0006t0018g0191 | 1 | 44 | 0.0227 | 2031 | c.108 others(2048): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2024): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03491.hp1 NA18973.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0070 a0001c0001t0002g0069 a0001c0001t0002g0071 others(2): Show |
5 | 26 | 0.1923 | 2031 | c.-90 others(2046): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2024): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 22 | 0.0455 | 2031 | c.-90 others(2046): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514222 | T | TCCTCTCT others(2024): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0011 | a0011c0009 | a0011c0009t0008 | a0011c0009t0008g0233 | 1 | 206 | 0.0049 | 2031 | c.-84 others(2048): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871889 | A | AGAGCGGG others(2024): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 47 | 0.0213 | 2031 | c.209 others(2046): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 67927791 | T | TATATATA others(2024): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0006 | 1 | 82 | 0.0122 | 2031 | c.756 others(2050): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2024): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 28 | 0.0357 | 2031 | c.-50 others(2042): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
STT3A_chr11_125587852_125628091 | 125589067 | A | AAGAACTA others(2024): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0093 | 1 | 324 | 0.0031 | 2031 | c.-38 others(2042): Show |
STT3A | ENSG00000134910.14 | transcript | ENST00000392708.9 | protein_coding | 3784 | chr11 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(2025): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18984.hp1 |
a0001a0027 | a0001c0001a0027c0030 | a0001c0001t0004a0027c0030t0004 | a0001c0001t0004g0212 a0027c0030t0004g0210 |
2 | 195 | 0.0103 | 2032 | c.108 others(2049): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(2025): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206 a0001c0001t0004g0208 |
2 | 195 | 0.0103 | 2032 | c.108 others(2049): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2025): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0012 | a0012c0034 | a0012c0034t0035 | a0012c0034t0035g0067 | 1 | 44 | 0.0227 | 2032 | c.108 others(2049): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar |