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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAT1_chr4_186582794_186728856 | 186626065 | C | CGAGCTTC others(273): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0242 | 1 | 338 | 0.0030 | 280 | c.481 others(299): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 9/26 | chr4 | TogoVar | |||||||
FECH_chr18_57539377_57591702 | 57553219 | T | TGCTGCAA others(273): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02559.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0160a0001c0001t0162 | a0001c0001t0036g0079 a0001c0001t0160g0338 a0001c0001t0162g0348 |
3 | 422 | 0.0071 | 280 | c.107 others(299): Show |
FECH | ENSG00000066926.13 | transcript | ENST00000262093.11 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32777932 | C | CATTTATT others(273): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0085 | a0003c0085t0001 | a0003c0085t0001g0135 | 1 | 196 | 0.0051 | 280 | c.413 others(299): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32777932 | C | CATTTATT others(273): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0020 | a0020c0061 | a0020c0061t0001 | a0020c0061t0001g0063 | 1 | 196 | 0.0051 | 280 | c.413 others(299): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32777932 | C | CATTTATT others(273): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0058 | a0058c0083 | a0058c0083t0079 | a0058c0083t0079g0174 | 1 | 196 | 0.0051 | 280 | c.413 others(299): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FNDC11_chr20_63549159_63561695 | 63559398 | C | CAGTCAGG others(273): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 416 | 0.0024 | 280 | c.*27 others(291): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 2704 | chr20 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(273): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 NA18522.hp2 |
a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0000 | 2 | 406 | 0.0049 | 280 | c.*33 others(291): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806050 | C | CCTCAACC others(273): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 314 | 0.0032 | 280 | c.*18 others(291): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1764 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807809 | C | CTCCCTCC others(273): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 314 | 0.0032 | 280 | c.*36 others(291): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3523 | chr2 | TogoVar | |||||||
GARIN3_chr5_157156846_157171264 | 157167161 | A | AGGTTTAT others(273): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 396 | 0.0025 | 280 | c.-99 others(289): Show |
GARIN3 | ENSG00000170613.4 | transcript | ENST00000302938.4 | protein_coding | 898 | chr5 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113841817 | C | CTCCATAT others(273): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 143 | 0.0070 | 280 | c.344 others(297): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GET4_chr7_871554_901436 | 890176 | C | CGGGGTCT others(273): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0277 | 1 | 384 | 0.0026 | 280 | c.467 others(295): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(273): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03098.hp2 NA18986.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0069a0001c0001t0081a0002c0002t0004 | a0001c0001t0069g0148 a0001c0001t0081g0103 a0002c0002t0004g0076 |
3 | 188 | 0.0160 | 280 | c.229 others(299): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGGA others(273): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02559.hp2 others(2): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0007others(1): Show | a0001c0001t0013a0002c0002t0004a0007c0007t0006others(2): Show | a0001c0001t0013g0051 a0002c0002t0004g0040 a0007c0007t0006g0019 others(2): Show |
5 | 188 | 0.0266 | 280 | c.229 others(299): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132792763 | G | GACCGCAC others(273): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0300 | 1 | 308 | 0.0033 | 280 | c.247 others(299): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 11/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132793283 | C | CACCGCAC others(273): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0005 | a0005c0005t0064 | a0005c0005t0064g0022 | 1 | 308 | 0.0033 | 280 | c.247 others(299): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 11/23 | chr12 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66683369 | T | TATATGTT others(273): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 234 | 0.0043 | 280 | c.143 others(297): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143211636 | G | GAGAGAGG others(273): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0005 | a0005c0006 | a0005c0006t0015 | a0005c0006t0015g0011 | 1 | 106 | 0.0094 | 280 | c.-16 others(291): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1581 | chr8 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653214 | T | TCCTCCTC others(273): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0018 | a0018c0076 | a0018c0076t0014 | a0018c0076t0014g0022 | 1 | 290 | 0.0035 | 280 | c.427 others(297): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 321333 | A | AAGAAAAG others(273): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 155 | 0.0065 | 280 | c.-25 others(291): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2538 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322199 | A | AAAAAAAA others(273): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0020 | 1 | 155 | 0.0065 | 280 | c.-34 others(291): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3404 | chrX | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 107022930 | T | TAAAATCA others(273): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 HG03704.hp1 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0013a0003c0011t0013 | a0001c0001t0013g0033 a0003c0011t0013g0032 |
2 | 256 | 0.0078 | 280 | c.-48 others(291): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4455 | chr11 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559398 | C | CAGTCAGG others(273): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0094 | 1 | 390 | 0.0026 | 280 | c.782 others(296): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HIC1_chr17_2050103_2068241 | 2052377 | T | TGCCTGGG others(273): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 414 | 0.0024 | 280 | c.-28 others(291): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2725 | chr17 | TogoVar | |||||||
HIC1_chr17_2050103_2068241 | 2052437 | G | GGGGGTTA others(273): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 414 | 0.0024 | 280 | c.-28 others(291): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2665 | chr17 | TogoVar | |||||||
HIC1_chr17_2050103_2068241 | 2052507 | G | GGGGGTTA others(273): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 414 | 0.0024 | 280 | c.-27 others(291): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2595 | chr17 | TogoVar | |||||||
HSPA12A_chr10_116666192_116747566 | 116732328 | C | CAAAGAAA others(273): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 320 | 0.0031 | 280 | c.40+ others(297): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
HTR3B_chr11_113899796_113954079 | 113935454 | A | ACTCAGGA others(273): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0057 | a0001c0001t0005g0039 a0001c0001t0005g0187 a0001c0001t0057g0167 |
3 | 418 | 0.0072 | 280 | c.696 others(297): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(273): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(273): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(273): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(273): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0101 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(273): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(273): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0123 a0001c0001t0001g0124 |
7 | 458 | 0.0153 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGTCCAC others(273): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066920 | A | AGGCCCTG others(273): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066920 | A | AGGCCCTG others(273): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0418 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3066960 | A | AGGCCCTG others(273): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3067040 | A | AGGCCCTG others(273): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18969.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0054 |
2 | 458 | 0.0044 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3067117 | T | TGCTGGCC others(273): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3067117 | T | TGCTGGCC others(273): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0369 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL32_chr16_3060640_3074530 | 3067120 | T | TGGCCCTG others(273): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 458 | 0.0022 | 280 | c.16- others(293): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224736 | C | CCATCCAC others(273): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 | 1 | 292 | 0.0034 | 280 | c.121 others(299): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224736 | C | CCATCCAC others(273): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00733.hp1 others(33): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0002c0002t0010a0005c0007t0001 | a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 others(33): Show |
36 | 292 | 0.1233 | 280 | c.121 others(299): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406031 | G | GTGTCACT others(273): Show |
3_prime_UTR_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0057 | 1 | 276 | 0.0036 | 280 | c.*80 others(289): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 802 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406174 | T | TCTTCCTC others(273): Show |
3_prime_UTR_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0155 | a0001c0001t0155g0117 | 1 | 276 | 0.0036 | 280 | c.*65 others(289): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 659 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406510 | T | TCTTCCTC others(273): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0198 | a0001c0001t0198g0098 | 1 | 276 | 0.0036 | 280 | c.*32 others(289): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 323 | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159934 | C | CCTGTGTG others(273): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0011 | a0004c0011t0040 | a0004c0011t0040g0060 | 1 | 158 | 0.0063 | 280 | c.222 others(299): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514194 | T | TCCTCTCT others(273): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0011 | a0011c0009 | a0011c0009t0014 | a0011c0009t0014g0084 | 1 | 254 | 0.0039 | 280 | c.-84 others(297): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514223 | C | CCTCCCTT others(273): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0014 | a0014c0012 | a0014c0012t0002 | a0014c0012t0002g0072 | 1 | 254 | 0.0039 | 280 | c.-84 others(297): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |