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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D3_chr3_54117552_55079557 | 54646148 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 NA19030.hp2 |
a0001 | a0001c0004a0001c0031 | a0001c0004t0001a0001c0031t0001 | a0001c0004t0001g0050 a0001c0031t0001g0032 |
2 | 55 | 0.0364 | 8 | c.116 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646194 | G | GCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0001 | a0001c0002t0001g0115 a0001c0009t0001g0113 |
2 | 77 | 0.0260 | 8 | c.116 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54678720 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01070.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0033 a0001c0003t0001g0094 a0001c0005t0001g0111 others(6): Show |
9 | 40 | 0.2250 | 8 | c.116 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54739751 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0012a0001c0005t0003a0001c0008t0001others(3): Show | a0001c0001t0012g0063 a0001c0005t0003g0055 a0001c0008t0001g0103 others(3): Show |
6 | 7 | 0.8571 | 8 | c.116 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54763745 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18951.hp2 NA18979.hp1 others(1): Show |
a0001 | a0001c0004a0001c0015a0001c0029 | a0001c0004t0001a0001c0015t0001a0001c0029t0001 | a0001c0004t0001g0007 a0001c0004t0001g0031 a0001c0015t0001g0108 others(1): Show |
4 | 115 | 0.0348 | 8 | c.124 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54821641 | G | GTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03098.hp1 |
a0001 | a0001c0002a0001c0026 | a0001c0002t0001a0001c0026t0009 | a0001c0002t0001g0004 a0001c0026t0009g0073 |
2 | 66 | 0.0303 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54821697 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00639.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0010others(7): Show | a0001c0001t0001a0001c0006t0001a0001c0010t0003others(8): Show | a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0006t0001g0009 others(9): Show |
12 | 45 | 0.2667 | 8 | c.139 others(27): 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(1): Show |
intron_variant | MODIFIER | HG01106.hp1 NA21309.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0002 | a0001c0003t0001g0084 a0001c0004t0002g0008 |
2 | 35 | 0.0571 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822730 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02922.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0012t0005 | a0001c0001t0001g0030 a0001c0001t0003g0058 a0001c0012t0005g0027 |
3 | 104 | 0.0288 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 |
a0001 | a0001c0005a0001c0041 | a0001c0005t0001a0001c0041t0001 | a0001c0005t0001g0111 a0001c0041t0001g0085 |
2 | 65 | 0.0308 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54822832 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0003a0001c0003t0001a0001c0018t0001others(1): Show | a0001c0001t0003g0058 a0001c0003t0001g0038 a0001c0018t0001g0076 others(1): Show |
4 | 71 | 0.0563 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54832011 | T | TCATACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0003g0058 others(12): Show |
15 | 47 | 0.3191 | 8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01255.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0005t0001 | a0001c0002t0001g0012 a0001c0002t0001g0115 a0001c0003t0001g0042 others(2): Show |
5 | 21 | 0.2381 | 8 | c.162 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCGCGCAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0006others(1): Show | a0001c0002t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0002t0001g0004 a0001c0005t0001g0111 a0001c0006t0001g0009 others(1): Show |
4 | 20 | 0.2000 | 8 | c.162 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCGCGCGC others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0002a0001c0006t0001a0001c0007t0001 | a0001c0001t0002g0003 a0001c0006t0001g0017 a0001c0007t0001g0043 |
3 | 19 | 0.1579 | 8 | c.162 others(29): 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(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03516.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0002g0091 |
3 | 68 | 0.0441 | 8 | c.191 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54886935 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0002t0001g0020 others(5): Show |
8 | 19 | 0.4211 | 8 | c.205 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54891180 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01258.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0053 others(16): Show |
19 | 34 | 0.5588 | 8 | c.215 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54898064 | C | CGCTTGCT others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0053 a0001c0003t0001g0038 |
2 | 70 | 0.0286 | 8 | c.236 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54911351 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 others(8): Show |
11 | 34 | 0.3235 | 8 | c.244 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54933037 | A | ATCCCTCC others(1): Show |
intron_variant | MODIFIER | HG02970.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0068 a0001c0009t0001g0013 |
2 | 116 | 0.0172 | 8 | c.244 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54962053 | T | TCATTAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0046 others(23): Show |
26 | 116 | 0.2241 | 8 | c.245 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54993885 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0032 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(1): Show | a0001c0001t0001g0034 a0001c0001t0012g0063 a0001c0002t0001g0020 others(2): Show |
5 | 31 | 0.1613 | 8 | c.269 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55019079 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(3): Show | a0001c0001t0001g0034 a0001c0001t0012g0063 a0001c0002t0001g0081 others(3): Show |
6 | 67 | 0.0896 | 8 | c.298 others(25): 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(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0010others(6): Show | a0001c0002t0001a0001c0007t0001a0001c0010t0006others(6): Show | a0001c0002t0001g0060 a0001c0007t0001g0043 a0001c0007t0001g0067 others(7): Show |
10 | 92 | 0.1087 | 8 | c.298 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55074962 | A | ATGATTGA others(1): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02300.hp1 HG03516.hp1 |
a0001 | a0001c0002a0001c0004a0001c0021 | a0001c0002t0002a0001c0004t0002a0001c0021t0002 | a0001c0002t0002g0066 a0001c0004t0002g0008 a0001c0021t0002g0023 |
3 | 114 | 0.0263 | 8 | c.*75 others(17): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 406 | chr3 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1804121 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01433.hp2 others(4): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0003a0001c0002t0002a0001c0006t0001others(3): Show | a0001c0001t0003g0049 a0001c0001t0003g0171 a0001c0002t0002g0198 others(4): Show |
7 | 129 | 0.0543 | 8 | c.272 others(27): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1851680 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(1): Show | a0001c0001t0001g0266 a0001c0001t0010g0149 a0001c0001t0022g0164 others(1): Show |
4 | 297 | 0.0135 | 8 | c.224 others(27): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1878655 | T | TAATCTCA others(1): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18983.hp1 NA19010.hp2 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0001 | a0001c0003t0002g0061 a0001c0010t0001g0057 a0001c0010t0001g0062 |
3 | 316 | 0.0095 | 8 | c.164 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 15/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1898677 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03225.hp2 NA19084.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0037 a0001c0001t0003g0171 a0001c0002t0001g0211 others(1): Show |
4 | 247 | 0.0162 | 8 | c.781 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | |||||||
CACNB1_chr17_39168453_39202669 | 39182700 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01361.hp2 HG01928.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0176 a0001c0001t0001g0186 others(6): Show |
13 | 202 | 0.0644 | 8 | c.105 others(27): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 11/13 | chr17 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18137084 | C | CTCCTTCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0025 a0001c0001t0001g0066 a0001c0001t0001g0079 others(32): Show |
35 | 61 | 0.5738 | 8 | c.-36 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3339 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18152736 | A | AAACAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01516.hp2 HG01978.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0002c0003t0058 | a0001c0001t0009g0052 a0001c0001t0009g0177 a0002c0003t0058g0053 |
3 | 167 | 0.0180 | 8 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18153563 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0032 others(50): Show |
53 | 128 | 0.4141 | 8 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18199941 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01169.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0066 a0001c0001t0001g0127 others(14): Show |
17 | 71 | 0.2394 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220201 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0017 a0001c0001t0008g0180 |
2 | 171 | 0.0117 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220201 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031 | a0001c0001t0001g0096 a0001c0001t0031g0120 |
2 | 171 | 0.0117 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220237 | A | AGTTGGGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02083.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0004g0149 a0001c0001t0004g0153 a0001c0001t0012g0029 others(5): Show |
8 | 187 | 0.0428 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18222407 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0036 others(65): Show |
68 | 152 | 0.4474 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18228433 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01069.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0049 others(22): Show |
25 | 101 | 0.2475 | 8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18228441 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02559.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0012a0001c0001t0013a0001c0001t0035others(4): Show | a0001c0001t0012g0029 a0001c0001t0013g0003 a0001c0001t0035g0176 others(7): Show |
10 | 200 | 0.0500 | 8 | c.213 others(27): 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(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02615.hp1 HG02818.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0023a0002c0003t0016 | a0001c0001t0007g0088 a0001c0001t0023g0059 a0001c0001t0023g0071 others(1): Show |
4 | 88 | 0.0455 | 8 | c.214 others(29): 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(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01361.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0003g0044 a0001c0001t0003g0064 others(7): Show |
10 | 164 | 0.0610 | 8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18335784 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0002t0002 | a0001c0001t0004g0167 a0001c0001t0008g0180 a0001c0002t0002g0179 |
3 | 29 | 0.1034 | 8 | c.214 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(5): Show | a0001c0001t0003g0064 a0001c0001t0004g0153 a0001c0001t0013g0198 others(7): Show |
10 | 118 | 0.0847 | 8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18358497 | G | GCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18983.hp1 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0013a0002c0003t0018 | a0001c0001t0001g0036 a0001c0001t0013g0003 a0002c0003t0018g0075 |
3 | 132 | 0.0227 | 8 | c.214 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03453.hp1 HG03453.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0012a0001c0001t0013a0001c0001t0053others(4): Show | a0001c0001t0012g0029 a0001c0001t0013g0003 a0001c0001t0053g0170 others(5): Show |
8 | 38 | 0.2105 | 8 | c.333 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18426955 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG02148.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0099 a0001c0001t0001g0131 others(11): Show |
14 | 28 | 0.5000 | 8 | c.333 others(27): 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(1): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02818.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005 | a0001c0001t0001g0131 a0001c0002t0002g0070 a0001c0002t0002g0091 others(1): Show |
4 | 164 | 0.0244 | 8 | c.334 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18495591 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0011a0001c0001t0044others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0011g0191 others(3): Show |
6 | 192 | 0.0313 | 8 | c.334 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |