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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1G_chr17_50555715_50632474 | 50589912 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0073 | 1 | 246 | 0.0041 | 18 | c.230 others(35): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39596409 | G | GGGCAGGG others(11): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | 236 | 0.0127 | 18 | c.237 others(35): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39686609 | C | CATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01993.hp1 HG06807.hp1 |
a0004 | a0004c0004 | a0004c0004t0035a0004c0004t0059 | a0004c0004t0035g0025a0004c0004t0059g0058 | 2 | 236 | 0.0085 | 18 | c.*21 others(27): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
CACNA1S_chr1_201034512_201117426 | 201035818 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0054 | a0005c0054t0001 | a0005c0054t0001g0177 | 1 | 314 | 0.0032 | 18 | c.*40 others(29): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201056070 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18989.hp1 |
a0001a0022 | a0001c0021a0022c0041 | a0001c0021t0001a0022c0041t0001 | a0001c0021t0001g0207a0022c0041t0001g0044 | 2 | 314 | 0.0064 | 18 | c.361 others(37): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201111063 | G | GGGGGCTA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp2 others(15): Show |
a0001a0002a0005others(3): Show | a0001c0009a0001c0014a0001c0033others(9): Show | a0001c0009t0001a0001c0014t0001a0001c0033t0001others(9): Show | a0001c0009t0001g0006a0001c0009t0001g0259a0001c0009t0001g0264others(14): Show | 18 | 314 | 0.0573 | 18 | c.153 others(33): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201111065 | G | GGGCTACT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0262 | 1 | 314 | 0.0032 | 18 | c.153 others(33): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951969 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0019 | 1 | 144 | 0.0069 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951970 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0075 | 1 | 144 | 0.0069 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951970 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0088a0001c0001t0005g0111 | 2 | 144 | 0.0139 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951970 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0022others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0039others(11): Show | 14 | 144 | 0.0972 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951971 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0065 | 1 | 144 | 0.0069 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951974 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0080 | 1 | 144 | 0.0069 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951975 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 144 | 0.0069 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 | 1 | 144 | 0.0069 | 18 | c.295 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82217394 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01258.hp2 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0133a0001c0001t0003g0034a0001c0001t0003g0062others(7): Show | 10 | 144 | 0.0694 | 18 | c.295 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82245676 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0070a0001c0001t0002g0097a0001c0001t0003g0013others(10): Show | 13 | 144 | 0.0903 | 18 | c.295 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82332510 | T | TAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0010 | a0001c0001t0002g0129a0001c0001t0005g0139a0001c0002t0010g0092 | 3 | 144 | 0.0208 | 18 | c.294 others(35): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82366903 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036 | 2 | 144 | 0.0139 | 18 | c.96- others(35): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54122512 | T | TCCCTCCC others(11): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0027 | 1 | 118 | 0.0085 | 18 | c.-20 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 39 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54141061 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 NA18979.hp1 |
a0001 | a0001c0004a0001c0017 | a0001c0004t0001a0001c0017t0001 | a0001c0004t0001g0031a0001c0017t0001g0025 | 2 | 118 | 0.0170 | 18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54141086 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 118 | 0.0085 | 18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54149877 | G | GTGTCTCT others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0090 | 1 | 118 | 0.0085 | 18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54171136 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03579.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0087a0001c0003t0001g0042a0001c0008t0001g0092others(1): Show | 4 | 118 | 0.0339 | 18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54252100 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0086 | 1 | 118 | 0.0085 | 18 | c.205 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54306328 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0001a0001c0012t0005 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0003t0001g0011others(1): Show | 4 | 118 | 0.0339 | 18 | c.205 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54319199 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0009 | 1 | 118 | 0.0085 | 18 | c.205 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03579.hp2 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0001a0001c0014t0001 | a0001c0003t0001g0101a0001c0014t0001g0071 | 2 | 118 | 0.0170 | 18 | c.321 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54350968 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0085 | 1 | 118 | 0.0085 | 18 | c.321 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54399860 | C | CAGGCTGC others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01070.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(22): Show | a0001c0001t0001g0010a0001c0001t0001g0061a0001c0001t0001g0068others(30): Show | 33 | 118 | 0.2797 | 18 | c.381 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54399861 | C | CGGCTGCT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG02080.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0030a0001c0001t0001g0045others(10): Show | 13 | 118 | 0.1102 | 18 | c.381 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54475809 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0045others(17): Show | 20 | 118 | 0.1695 | 18 | c.382 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54554870 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0005 | a0001c0001t0001g0024a0001c0016t0005g0116 | 2 | 118 | 0.0170 | 18 | c.545 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0077 | 1 | 118 | 0.0085 | 18 | c.964 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618375 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 118 | 0.0085 | 18 | c.964 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54631203 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0035a0001c0002t0001g0060a0001c0005t0001g0052others(1): Show | 4 | 118 | 0.0339 | 18 | c.105 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54687103 | A | ATTTTTCT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008a0001c0010others(2): Show | a0001c0001t0003a0001c0001t0012a0001c0008t0001others(3): Show | a0001c0001t0003g0058a0001c0001t0012g0063a0001c0008t0001g0103others(3): Show | 6 | 118 | 0.0509 | 18 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54809311 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 HG06807.hp1 NA18951.hp2 |
a0001 | a0001c0008a0001c0015a0001c0025 | a0001c0008t0001a0001c0015t0001a0001c0025t0004 | a0001c0008t0001g0092a0001c0015t0001g0108a0001c0025t0004g0106 | 3 | 118 | 0.0254 | 18 | c.138 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54832011 | T | TCATACAC others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0023 | 1 | 118 | 0.0085 | 18 | c.139 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCGCGCGC others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03471.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0010a0001c0021 | a0001c0001t0001a0001c0010t0006a0001c0021t0002 | a0001c0001t0001g0083a0001c0010t0006g0062a0001c0021t0002g0023 | 3 | 118 | 0.0254 | 18 | c.162 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54883799 | A | ATCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0109 | 1 | 118 | 0.0085 | 18 | c.191 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55008888 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0006a0001c0006t0001others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0061a0001c0001t0001g0097others(4): Show | 7 | 118 | 0.0593 | 18 | c.282 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55073365 | C | CACCCAGG others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0012 | a0001c0012t0011 | a0001c0012t0011g0036 | 1 | 118 | 0.0085 | 18 | c.298 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D4_chr12_1786963_1923652 | 1848762 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18944.hp2 NA18973.hp1 others(1): Show |
a0003 | a0003c0013 | a0003c0013t0001a0003c0013t0002a0003c0013t0007others(1): Show | a0003c0013t0001g0227a0003c0013t0002g0067a0003c0013t0007g0007others(1): Show | 4 | 318 | 0.0126 | 18 | c.224 others(37): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39170961 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 396 | 0.0025 | 18 | c.*42 others(29): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 2491 | chr17 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39183337 | A | AAAGAAGA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 396 | 0.0025 | 18 | c.105 others(35): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 11/13 | chr17 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(11): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp1 HG03540.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0011a0001c0001t0045others(1): Show | a0001c0001t0008g0063a0001c0001t0011g0125a0001c0001t0045g0128others(1): Show | 4 | 200 | 0.0200 | 18 | c.121 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18172924 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0037a0001c0001t0003g0030others(10): Show | 13 | 200 | 0.0650 | 18 | c.213 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220232 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 200 | 0.0050 | 18 | c.213 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18288676 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01192.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0096a0001c0001t0004g0152a0001c0001t0006g0028others(10): Show | 13 | 200 | 0.0650 | 18 | c.214 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |