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 | 82366903 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG01975.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0022 a0001c0001t0005g0096 a0001c0001t0005g0112 others(6): Show |
9 | 81 | 0.1111 | 20 | c.96- others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82370572 | T | TGGATGGA others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 67 | 0.0149 | 20 | c.96- others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82370572 | T | TGGATGGA others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01258.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0046 a0001c0002t0001g0033 |
2 | 68 | 0.0294 | 20 | c.96- others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82393031 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01496.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0005 a0001c0002t0002g0121 |
2 | 83 | 0.0241 | 20 | c.96- others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82432037 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015 | 1 | 43 | 0.0233 | 20 | c.95+ others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50470369 | A | AAGGGGTG others(13): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017 | 1 | 232 | 0.0043 | 20 | c.288 others(37): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54141061 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02300.hp2 NA18951.hp2 |
a0001 | a0001c0009a0001c0011a0001c0015 | a0001c0009t0008a0001c0011t0001a0001c0015t0001 | a0001c0009t0008g0077 a0001c0011t0001g0109 a0001c0015t0001g0108 |
3 | 55 | 0.0545 | 20 | c.204 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02717.hp2 HG06807.hp2 |
a0001 | a0001c0030a0001c0039 | a0001c0030t0001a0001c0039t0001 | a0001c0030t0001g0028 a0001c0039t0001g0047 |
2 | 83 | 0.0241 | 20 | c.204 others(39): 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(13): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 82 | 0.0122 | 20 | c.204 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54149928 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0041 | 1 | 92 | 0.0109 | 20 | c.204 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54149928 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0074 | 1 | 92 | 0.0109 | 20 | c.204 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG02300.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0035 a0001c0002t0001g0115 a0001c0002t0002g0066 others(2): Show |
5 | 20 | 0.2500 | 20 | c.204 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54247312 | T | TCAAACAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01255.hp2 |
a0001 | a0001c0002a0001c0004a0001c0015 | a0001c0002t0004a0001c0004t0002a0001c0015t0001 | a0001c0002t0004g0001 a0001c0004t0002g0008 a0001c0015t0001g0072 |
3 | 43 | 0.0698 | 20 | c.205 others(39): 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(13): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 33 | 0.0303 | 20 | c.205 others(39): 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(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0052 | 1 | 23 | 0.0435 | 20 | c.321 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54475809 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01192.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(17): Show | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 others(24): Show |
27 | 30 | 0.9000 | 20 | c.382 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54500504 | T | TCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0034 a0001c0006t0001g0009 |
2 | 57 | 0.0351 | 20 | 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 | 54500504 | T | TCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0013a0001c0037 | a0001c0013t0001a0001c0037t0004 | a0001c0013t0001g0105 a0001c0037t0004g0019 |
2 | 57 | 0.0351 | 20 | 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 | 54631203 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0003 | a0001c0001t0001g0061 a0001c0010t0003g0057 |
2 | 36 | 0.0556 | 20 | c.105 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646194 | G | GCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0041 | 1 | 76 | 0.0132 | 20 | 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 | 54821697 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18979.hp1 |
a0001 | a0001c0004a0001c0024 | a0001c0004t0001a0001c0024t0001 | a0001c0004t0001g0031 a0001c0024t0001g0069 |
2 | 35 | 0.0571 | 20 | c.139 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54821697 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 34 | 0.0294 | 20 | c.139 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0074 | 1 | 64 | 0.0156 | 20 | c.139 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54822832 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0089 | 1 | 68 | 0.0147 | 20 | c.139 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54883799 | A | ATCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02080.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0003t0001g0026 others(6): Show |
9 | 74 | 0.1216 | 20 | c.191 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54886164 | C | CACAGTAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 others(102): Show |
105 | 116 | 0.9052 | 20 | c.205 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55008888 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01106.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0046 a0001c0008t0001g0074 a0001c0009t0001g0113 others(2): Show |
5 | 18 | 0.2778 | 20 | c.282 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55019079 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG03041.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0003g0058 others(4): Show |
7 | 68 | 0.1029 | 20 | c.298 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55022559 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 116 | 0.0086 | 20 | c.298 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55038864 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0043 | 1 | 13 | 0.0769 | 20 | c.298 others(41): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55067716 | G | GATACATA others(13): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 83 | 0.0120 | 20 | c.298 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18137084 | C | CTCCTTCC others(13): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0171 a0001c0001t0003g0044 |
2 | 28 | 0.0714 | 20 | c.-36 others(31): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3339 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(13): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp2 HG01981.hp2 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0012a0001c0002t0055 | a0001c0001t0009g0159 a0001c0001t0012g0055 a0001c0002t0055g0160 |
3 | 87 | 0.0345 | 20 | c.121 others(32): 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(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01978.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0029 | a0001c0001t0001g0032 a0001c0002t0029g0046 |
2 | 76 | 0.0263 | 20 | c.213 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18181562 | T | TTTTTATT others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0056 | 1 | 33 | 0.0303 | 20 | c.213 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02559.hp2 NA18981.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0035a0001c0002t0005 | a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0035g0176 others(1): Show |
4 | 88 | 0.0455 | 20 | c.214 others(41): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02572.hp1 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0008a0001c0001t0047a0001c0002t0005others(3): Show | a0001c0001t0008g0083 a0001c0001t0047g0195 a0001c0002t0005g0118 others(3): Show |
6 | 86 | 0.0698 | 20 | c.214 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18325689 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0055 | a0001c0001t0003g0047 a0001c0002t0005g0118 a0001c0002t0055g0160 |
3 | 157 | 0.0191 | 20 | c.214 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18356938 | A | ATGTCTTT others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 109 | 0.0092 | 20 | c.214 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18442956 | A | ACGTATAT others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 195 | 0.0051 | 20 | c.333 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18464418 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0004g0152 others(2): Show |
5 | 70 | 0.0714 | 20 | c.334 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481192 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0069 | 1 | 161 | 0.0062 | 20 | c.334 others(39): 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(13): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0128 | 1 | 94 | 0.0106 | 20 | c.130 others(35): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18356938 | A | ATGTCTTT others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 184 | 0.0054 | 20 | c.51+ others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18407109 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 49 | 0.0204 | 20 | c.171 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442956 | A | ACGTATAT others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 292 | 0.0034 | 20 | c.171 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01993.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0060others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0143 others(6): Show |
9 | 106 | 0.0849 | 20 | c.172 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481192 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0271 | 1 | 239 | 0.0042 | 20 | c.172 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18504650 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0242 | 1 | 298 | 0.0034 | 20 | c.432 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03942.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0050 | a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0200 others(1): Show |
4 | 143 | 0.0280 | 20 | c.114 others(35): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |