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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D1_chr7_81941444_82448777 | 82137707 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03130.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0084 a0001c0001t0011g0066 |
2 | 41 | 0.0488 | 11 | c.355 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82172640 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0081 a0001c0001t0007g0084 |
2 | 126 | 0.0159 | 11 | c.295 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0012 a0001c0001t0003g0076 a0001c0001t0011g0066 others(2): Show |
5 | 13 | 0.3846 | 11 | c.295 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82297072 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01261.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0003g0016 a0001c0001t0005g0105 a0001c0002t0001g0024 others(1): Show |
4 | 21 | 0.1905 | 11 | c.294 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82363254 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0003g0062 a0001c0001t0003g0086 a0001c0001t0007g0078 others(5): Show |
8 | 39 | 0.2051 | 11 | c.96- others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50443261 | A | ACCCACCC others(4): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 232 | 0.0043 | 11 | c.289 others(28): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54171136 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0029 others(8): Show |
11 | 26 | 0.4231 | 11 | c.204 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54246724 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0037 | a0001c0001t0001a0001c0037t0004 | a0001c0001t0001g0033 a0001c0037t0004g0019 |
2 | 99 | 0.0202 | 11 | c.205 others(30): 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(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0107 others(12): Show |
15 | 47 | 0.3191 | 11 | c.205 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54303818 | G | GTTTTTTG others(4): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0035 a0001c0001t0002g0003 a0001c0002t0001g0012 others(4): Show |
7 | 26 | 0.2692 | 11 | c.205 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350968 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0017 | 1 | 92 | 0.0109 | 11 | c.321 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54412610 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01243.hp2 HG01884.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0037 others(14): Show |
17 | 63 | 0.2698 | 11 | c.381 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54598307 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 23 | 0.0435 | 11 | c.963 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0018 | 1 | 2 | 0.5000 | 11 | c.138 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02572.hp2 |
a0001 | a0001c0003a0001c0022 | a0001c0003t0001a0001c0022t0001 | a0001c0003t0001g0101 a0001c0022t0001g0041 |
2 | 65 | 0.0308 | 11 | c.139 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54883823 | C | CTCTCTCT others(4): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19240.hp2 |
a0001 | a0001c0014a0001c0034 | a0001c0014t0001a0001c0034t0001 | a0001c0014t0001g0102 a0001c0034t0001g0086 |
2 | 80 | 0.0250 | 11 | c.191 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54886935 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02572.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0002a0001c0022a0001c0026others(3): Show | a0001c0002t0001a0001c0022t0001a0001c0026t0009others(3): Show | a0001c0002t0001g0079 a0001c0022t0001g0041 a0001c0026t0009g0073 others(3): Show |
6 | 17 | 0.3529 | 11 | c.205 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54891222 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03516.hp1 |
a0001 | a0001c0004a0001c0021 | a0001c0004t0001a0001c0021t0002 | a0001c0004t0001g0022 a0001c0021t0002g0023 |
2 | 113 | 0.0177 | 11 | c.215 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 24/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54911351 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 24 | 0.0417 | 11 | c.244 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1851682 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 153 | 0.0065 | 11 | c.224 others(30): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(4): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02630.hp1 HG02630.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0015 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0013g0003 others(1): Show |
4 | 88 | 0.0455 | 11 | c.121 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18171521 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01074.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0003g0074 others(9): Show |
12 | 89 | 0.1348 | 11 | c.213 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18172924 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01361.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0003g0026 others(19): Show |
22 | 96 | 0.2292 | 11 | c.213 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220217 | A | AGAGGGGG others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0147 | 1 | 162 | 0.0062 | 11 | c.213 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18228433 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0045 others(62): Show |
65 | 141 | 0.4610 | 11 | c.213 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18228444 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0088 | 1 | 200 | 0.0050 | 11 | c.213 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18228445 | A | AAAAAAGA others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0021a0001c0002t0002others(2): Show | a0001c0001t0003g0081 a0001c0001t0021g0124 a0001c0002t0002g0178 others(2): Show |
5 | 200 | 0.0250 | 11 | c.213 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18407109 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01258.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0001g0048 a0001c0001t0001g0190 a0001c0001t0007g0088 others(7): Show |
10 | 40 | 0.2500 | 11 | c.333 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481230 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0081 a0001c0001t0021g0126 |
2 | 163 | 0.0123 | 11 | c.334 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481231 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01981.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0058 | a0001c0001t0001g0117 a0002c0003t0058g0053 |
2 | 180 | 0.0111 | 11 | c.334 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18495582 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0001c0001t0047a0002c0003t0017 | a0001c0001t0008g0007 a0001c0001t0008g0063 a0001c0001t0047g0195 others(1): Show |
4 | 175 | 0.0229 | 11 | c.334 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18536243 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0034 | a0001c0001t0001g0096 a0001c0001t0006g0017 a0001c0001t0034g0086 |
3 | 96 | 0.0313 | 11 | c.130 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18407109 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG01258.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0027 a0001c0001t0001g0093 a0001c0001t0001g0143 others(13): Show |
16 | 64 | 0.2500 | 11 | c.171 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 98 | 0.0102 | 11 | c.172 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481230 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0246 a0001c0001t0003g0127 |
2 | 250 | 0.0080 | 11 | c.172 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481231 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01981.hp1 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0033 | a0001c0001t0001g0008 a0001c0001t0003g0060 a0001c0001t0033g0017 |
3 | 263 | 0.0114 | 11 | c.172 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18495582 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0057a0002c0003t0018 | a0001c0001t0007g0179 a0001c0001t0007g0204 a0001c0001t0057g0180 others(1): Show |
4 | 269 | 0.0149 | 11 | c.172 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02055.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0001g0063 a0001c0001t0005g0090 a0001c0001t0015g0111 others(1): Show |
4 | 143 | 0.0280 | 11 | c.114 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151861842 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02630.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0026others(5): Show | a0001c0001t0002g0020 a0001c0001t0002g0139 a0001c0001t0002g0215 others(15): Show |
18 | 131 | 0.1374 | 11 | c.759 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151886777 | G | GCTGGCTT others(4): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18906.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0015a0001c0006t0042 | a0001c0005t0015g0199 a0001c0006t0042g0033 |
2 | 230 | 0.0087 | 11 | c.148 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152093407 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0152 | 1 | 230 | 0.0043 | 11 | c.147 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152097272 | T | TTGATGAT others(4): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0091 | 1 | 230 | 0.0043 | 11 | c.147 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36625026 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0050 others(24): Show |
27 | 80 | 0.3375 | 11 | c.212 others(30): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36645536 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0205 | 1 | 18 | 0.0556 | 11 | c.211 others(30): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24252666 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG02165.hp1 HG02886.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0046 others(13): Show |
16 | 154 | 0.1039 | 11 | c.-40 others(22): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 3668 | chr16 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24312952 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 364 | 0.0027 | 11 | c.212 others(30): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317648 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0318 a0001c0001t0002g0220 |
2 | 210 | 0.0095 | 11 | c.212 others(30): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317713 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 364 | 0.0027 | 11 | c.212 others(30): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66990685 | A | ATTTTATT others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0040 | a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 others(2): Show |
5 | 350 | 0.0143 | 11 | c.220 others(30): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG5_chr17_66830117_66899751 | 66838960 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03579.hp2 NA21309.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0115a0005c0005t0114 | a0001c0001t0115g0195 a0005c0005t0114g0252 |
2 | 62 | 0.0323 | 11 | c.-10 others(30): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |