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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C22orf42_chr22_32144006_32164303 | 32145779 | A | AATATAAT others(33): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG03225.hp1 others(3): Show |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0009a0002c0006t0002g0053a0002c0006t0002g0054 | 6 | 398 | 0.0151 | 40 | c.*37 others(51): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3226 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145779 | A | AATATAAT others(33): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 | 1 | 398 | 0.0025 | 40 | c.*37 others(51): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3226 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145971 | T | TTATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02572.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013a0003c0003t0002g0035 | 7 | 398 | 0.0176 | 40 | c.*35 others(51): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3034 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146152 | A | ATATTATT others(33): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG02965.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019a0002c0002t0002g0091 | 2 | 398 | 0.0050 | 40 | c.*33 others(51): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2853 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146684 | G | GTATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 398 | 0.0025 | 40 | c.*28 others(51): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2321 | chr22 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCC others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02738.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0039a0001c0001t0053a0001c0002t0005others(1): Show | a0001c0001t0039g0344a0001c0001t0053g0395a0001c0002t0005g0303others(1): Show | 4 | 396 | 0.0101 | 40 | c.280 others(57): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117145 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0033a0004c0004t0001g0034a0004c0004t0001g0042others(1): Show | 4 | 318 | 0.0126 | 40 | c.152 others(59): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117361 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0080 | 1 | 318 | 0.0031 | 40 | c.152 others(57): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27557917 | A | ATCCCCCC others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01069.hp1 others(22): Show |
a0002a0011 | a0002c0002a0011c0009 | a0002c0002t0001a0011c0009t0001 | a0002c0002t0001g0230a0002c0002t0001g0231a0002c0002t0001g0232others(22): Show | 25 | 326 | 0.0767 | 40 | c.145 others(57): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
C2orf69_chr2_199906293_199933273 | 199922031 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01943.hp2 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0030a0001c0002t0002others(1): Show | a0001c0001t0003g0177a0001c0001t0030g0158a0001c0002t0002g0086others(1): Show | 4 | 412 | 0.0097 | 40 | c.334 others(57): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C3orf70_chr3_185071838_185158060 | 185079280 | C | CAAAAAAA others(33): Show |
3_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0325 | 1 | 388 | 0.0026 | 40 | c.*37 others(51): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2/2 | 3726 | chr3 | TogoVar | |||||
C3orf70_chr3_185071838_185158060 | 185134116 | C | CTCATATA others(33): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0366 | 1 | 388 | 0.0026 | 40 | c.196 others(59): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C4BPB_chr1_207083860_207104993 | 207085615 | A | AATATATA others(33): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 388 | 0.0026 | 40 | c.-33 others(51): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 3244 | chr1 | TogoVar | ||||||
C4BPB_chr1_207083860_207104993 | 207085621 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 2 | 388 | 0.0052 | 40 | c.-33 others(51): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 3238 | chr1 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 358 | 0.0028 | 40 | c.715 others(57): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C5orf15_chr5_133950510_133973625 | 133971061 | C | CGGGAGGC others(33): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033a0001c0001t0001g0039a0001c0001t0002g0106 | 3 | 438 | 0.0069 | 40 | c.-24 others(51): Show |
C5orf15 | ENSG00000113583.8 | transcript | ENST00000231512.5 | protein_coding | 2437 | chr5 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016076 | G | GCAGCGCA others(33): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02145.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0222a0001c0001t0005g0204a0001c0001t0005g0273others(1): Show | 4 | 326 | 0.0123 | 40 | c.130 others(57): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1099213 | C | CCGGCCTC others(33): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 326 | 0.0031 | 40 | c.129 others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1135930 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01934.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0299a0001c0001t0002g0318a0001c0001t0003g0289others(53): Show | 56 | 326 | 0.1718 | 40 | c.-2+ others(55): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68794505 | A | ATATAAAT others(33): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 128 | 0.0078 | 40 | c.154 others(59): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C9orf152_chr9_110194561_110213159 | 110209892 | A | AAAGAGAA others(33): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0014 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0008g0017others(1): Show | 4 | 466 | 0.0086 | 40 | c.-23 others(51): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1734 | chr9 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110209918 | A | AAGAGAAG others(33): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03540.hp2 |
a0001 | a0001c0003 | a0001c0003t0023a0001c0003t0049 | a0001c0003t0023g0053a0001c0003t0049g0160 | 2 | 466 | 0.0043 | 40 | c.-23 others(51): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1760 | chr9 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110209936 | A | AGAAGAGA others(33): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0052 | 1 | 466 | 0.0022 | 40 | c.-23 others(51): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1778 | chr9 | TogoVar | ||||||
C9orf24_chr9_34374019_34402810 | 34397683 | G | GCTGGACA others(33): Show |
5_prime_UTR_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0274 | 1 | 450 | 0.0022 | 40 | c.-90 others(47): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 1/7 | 51 | chr9 | TogoVar | |||||
CA10_chr17_51625320_52163714 | 51717648 | C | CACATATG others(33): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 156 | 0.0064 | 40 | c.465 others(59): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51942538 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02273.hp1 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0090a0001c0001t0002g0093a0001c0001t0002g0120others(1): Show | 4 | 156 | 0.0256 | 40 | c.137 others(59): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAAGAAA others(33): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 NA18941.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0256a0001c0002t0004g0186 | 2 | 452 | 0.0044 | 40 | c.*29 others(51): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190938 | C | CACTATAT others(33): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0289 | 1 | 344 | 0.0029 | 40 | c.*36 others(55): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0133 | 1 | 344 | 0.0029 | 40 | c.*36 others(55): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0210a0001c0001t0015g0245 | 2 | 344 | 0.0058 | 40 | c.*36 others(55): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49405719 | G | GAGAGAGG others(33): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 324 | 0.0031 | 40 | c.-31 others(59): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49405719 | G | GAGGAAGG others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01081.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0209a0001c0001t0002g0191others(4): Show | 7 | 324 | 0.0216 | 40 | c.-31 others(59): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23150207 | G | GTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0270 | 1 | 278 | 0.0036 | 40 | c.845 others(59): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CACFD1_chr9_133454978_133475848 | 133460471 | C | CGGCGGGG others(33): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01361.hp2 HG01433.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0044 | a0001c0001t0003g0049a0001c0001t0007g0005a0001c0001t0007g0050others(1): Show | 14 | 420 | 0.0333 | 40 | c.121 others(55): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13255724 | T | TCTCCCTC others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02723.hp2 others(2): Show |
a0001a0003a0020others(1): Show | a0001c0071a0003c0094a0003c0108others(2): Show | a0001c0071t0013a0003c0094t0018a0003c0108t0012others(2): Show | a0001c0071t0013g0138a0003c0094t0018g0208a0003c0108t0012g0211others(2): Show | 5 | 218 | 0.0229 | 40 | c.459 others(57): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13360265 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0009 | a0009c0014 | a0009c0014t0046 | a0009c0014t0046g0176 | 1 | 218 | 0.0046 | 40 | c.785 others(55): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510035 | A | AAGGAAGG others(33): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0056 | a0003c0056t0003 | a0003c0056t0003g0057 | 1 | 218 | 0.0046 | 40 | c.-38 others(51): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3557 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510035 | A | AAGGAAGG others(33): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0015 | a0015c0021 | a0015c0021t0004 | a0015c0021t0004g0044 | 1 | 218 | 0.0046 | 40 | c.-38 others(51): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3557 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137923369 | G | GGTATTCC others(33): Show |
intron_variant | MODIFIER | HG02486.hp2 NA20752.hp2 |
a0005 | a0005c0024 | a0005c0024t0011 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | 248 | 0.0081 | 40 | c.966 others(57): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181795767 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG02258.hp2 |
a0001a0002 | a0001c0004a0001c0009a0002c0002 | a0001c0004t0002a0001c0009t0078a0002c0002t0002 | a0001c0004t0002g0160a0001c0009t0078g0040a0002c0002t0002g0143 | 3 | 206 | 0.0146 | 40 | c.620 others(57): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201077201 | G | GGGGGAAA others(33): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0031 | a0031c0062 | a0031c0062t0001 | a0031c0062t0001g0243 | 1 | 314 | 0.0032 | 40 | c.162 others(55): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54141086 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 118 | 0.0085 | 40 | c.204 others(59): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54249568 | C | CACACACA others(33): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 118 | 0.0085 | 40 | c.205 others(59): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | C | CTCTGTGT others(33): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0086 | 1 | 118 | 0.0085 | 40 | c.321 others(59): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54478660 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 NA19068.hp1 |
a0001 | a0001c0004a0001c0017 | a0001c0004t0001a0001c0004t0002a0001c0017t0001 | a0001c0004t0001g0007a0001c0004t0002g0008a0001c0017t0001g0025 | 3 | 118 | 0.0254 | 40 | c.382 others(59): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54736052 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01123.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0110a0001c0003t0006g0064 | 2 | 118 | 0.0170 | 40 | c.116 others(61): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54736103 | A | ACATATAT others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02080.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0101a0001c0006t0001g0009 | 2 | 118 | 0.0170 | 40 | c.116 others(61): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54763804 | T | TATATACG others(33): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02615.hp2 |
a0001 | a0001c0010a0001c0036 | a0001c0010t0001a0001c0036t0005 | a0001c0010t0001g0065a0001c0036t0005g0002 | 2 | 118 | 0.0170 | 40 | c.124 others(57): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54763814 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0031a0001c0038 | a0001c0001t0003a0001c0031t0001a0001c0038t0010 | a0001c0001t0003g0058a0001c0031t0001g0032a0001c0038t0010g0059 | 3 | 118 | 0.0254 | 40 | c.124 others(57): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18181562 | T | TTTTTATT others(33): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0013 | 1 | 200 | 0.0050 | 40 | c.213 others(59): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |