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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1D_chr3_53489611_53818733 | 53492401 | GATGCTTG others(6): Show |
G | upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0172 | 1 | 210 | 0.0048 | -13 | c.-27 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 2209 | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53520942 | TTCCTTTC others(6): Show |
T | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0123 | 1 | 210 | 0.0048 | -13 | c.483 others(32): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0052 | 1 | 210 | 0.0048 | -13 | c.122 others(32): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181686275 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | 206 | 0.0243 | -13 | c.105 others(34): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1161859 | TGTGGGGT others(6): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp2 HG03195.hp2 others(1): Show |
a0002a0003a0031others(1): Show | a0002c0008a0003c0015a0031c0113others(1): Show | a0002c0008t0019a0003c0015t0011a0031c0113t0018others(1): Show | a0002c0008t0019g0031a0003c0015t0011g0015a0031c0113t0018g0214others(1): Show | 4 | 338 | 0.0118 | -13 | c.299 others(30): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1189397 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0275 | 1 | 338 | 0.0030 | -13 | c.300 others(30): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1192332 | GTGCCACC others(6): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(1): Show |
a0001a0019a0038 | a0001c0001a0019c0033a0038c0101 | a0001c0001t0001a0019c0033t0005a0038c0101t0008 | a0001c0001t0001g0177a0019c0033t0005g0254a0019c0033t0005g0260others(1): Show | 4 | 338 | 0.0118 | -13 | c.300 others(30): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39596201 | GGGCGGAG others(6): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0005 | a0003c0005t0054 | a0003c0005t0054g0066 | 1 | 236 | 0.0042 | -13 | c.237 others(30): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(14): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0057a0001c0001t0001g0116a0001c0002t0001g0124others(13): Show | 17 | 314 | 0.0541 | -13 | c.*40 others(24): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201068231 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02040.hp2 |
a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0171a0001c0030t0001g0200 | 2 | 314 | 0.0064 | -13 | c.255 others(30): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201103416 | AAAGGCTT others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(22): Show | a0001c0001t0001g0032a0001c0001t0001g0055a0001c0001t0001g0057others(45): Show | 49 | 314 | 0.1561 | -13 | c.258 others(30): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82000771 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016 | a0001c0001t0008g0023a0001c0001t0016g0019 | 2 | 144 | 0.0139 | -13 | c.159 others(32): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02895.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0001 | a0001c0001t0001g0068a0001c0001t0012g0127a0001c0002t0001g0063 | 3 | 144 | 0.0208 | -13 | c.295 others(32): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82232861 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0004g0074a0001c0001t0005g0105a0001c0001t0005g0106others(6): Show | 9 | 144 | 0.0625 | -13 | c.295 others(32): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82355806 | TTCTCCAT others(6): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0013a0001c0001t0004g0042a0001c0001t0004g0071others(2): Show | 5 | 144 | 0.0347 | -13 | c.96- others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54193175 | TATGTGGT others(6): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0022others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0022t0001others(5): Show | a0001c0001t0001g0035a0001c0002t0001g0020a0001c0022t0001g0041others(5): Show | 8 | 118 | 0.0678 | -13 | c.204 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54257614 | ACAGAGTA others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp1 NA21309.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0026a0001c0008t0001g0103 | 2 | 118 | 0.0170 | -13 | c.205 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350968 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0028 | 1 | 118 | 0.0085 | -13 | c.321 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350973 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG06807.hp1 |
a0001 | a0001c0008a0001c0010 | a0001c0008t0001a0001c0010t0001 | a0001c0008t0001g0092a0001c0010t0001g0065 | 2 | 118 | 0.0170 | -13 | c.321 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54368693 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005a0001c0012others(6): Show | a0001c0001t0001a0001c0005t0003a0001c0012t0011others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0068others(8): Show | 11 | 118 | 0.0932 | -13 | c.322 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54493060 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0018 | 1 | 118 | 0.0085 | -13 | c.382 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54628848 | TGGCCATT others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0096 | 1 | 118 | 0.0085 | -13 | c.105 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54678720 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18951.hp2 NA18979.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0004a0001c0015a0001c0019 | a0001c0004t0001a0001c0015t0001a0001c0019t0001 | a0001c0004t0001g0007a0001c0004t0001g0031a0001c0015t0001g0108others(1): Show | 4 | 118 | 0.0339 | -13 | c.116 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG02717.hp2 HG03041.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0053a0001c0002t0001g0020others(6): Show | 9 | 118 | 0.0763 | -13 | c.138 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822777 | TCTTTCTT others(6): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0014 | 1 | 118 | 0.0085 | -13 | c.139 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54840317 | CCCCCATT others(6): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 118 | 0.0085 | -13 | c.155 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 16/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55072327 | TTCATGGA others(6): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02109.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0010others(3): Show | a0001c0002t0001a0001c0007t0001a0001c0010t0006others(3): Show | a0001c0002t0001g0060a0001c0007t0001g0043a0001c0007t0001g0067others(4): Show | 7 | 118 | 0.0593 | -13 | c.298 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D4_chr12_1786963_1923652 | 1907645 | CCTGGTGG others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(147): Show |
a0001a0005a0006others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0039a0001c0001t0001g0166a0001c0001t0001g0170others(147): Show | 150 | 318 | 0.4717 | -13 | c.650 others(26): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 5/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1907720 | GGCCTGGT others(6): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 318 | 0.0031 | -13 | c.649 others(28): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 5/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1907744 | CGTGTCTG others(6): Show |
C | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0046 | 1 | 318 | 0.0031 | -13 | c.649 others(28): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 5/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1907772 | AGCCTGGT others(6): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(147): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0078a0001c0001t0001g0081a0001c0001t0001g0083others(147): Show | 150 | 318 | 0.4717 | -13 | c.649 others(27): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 5/37 | chr12 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18286517 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0003g0064a0001c0001t0003g0080a0001c0001t0003g0087others(10): Show | 13 | 200 | 0.0650 | -13 | c.214 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18295988 | CTTTTTGC others(6): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0003 | a0002c0003t0024 | a0002c0003t0024g0141 | 1 | 200 | 0.0050 | -13 | c.214 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18315499 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0016a0001c0002t0017 | a0001c0001t0003g0087a0001c0001t0016g0089a0001c0002t0017g0148 | 3 | 200 | 0.0150 | -13 | c.214 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18347344 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG00741.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0034a0001c0001t0001g0058others(65): Show | 68 | 200 | 0.3400 | -13 | c.214 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18472221 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0053 | a0002c0003t0053g0027 | 1 | 200 | 0.0050 | -13 | c.334 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481220 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0186 | 1 | 200 | 0.0050 | -13 | c.334 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481222 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 200 | 0.0050 | -13 | c.334 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18491819 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0084a0001c0004t0010g0085 | 2 | 200 | 0.0100 | -13 | 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 | 18495569 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 200 | 0.0050 | -13 | c.334 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18532684 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 200 | 0.0050 | -13 | c.105 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18536262 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0163 | 1 | 200 | 0.0050 | -13 | c.130 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18347344 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00735.hp1 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0091a0001c0001t0001g0096a0001c0001t0001g0168others(84): Show | 88 | 302 | 0.2914 | -13 | c.51+ others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18472221 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0067 | a0002c0003t0067g0104 | 1 | 302 | 0.0033 | -13 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481220 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0005 | a0001c0005t0021 | a0001c0005t0021g0207 | 1 | 302 | 0.0033 | -13 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481222 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG04228.hp1 NA18968.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0136a0001c0001t0001g0139 | 3 | 302 | 0.0099 | -13 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481226 | ATATATTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0228 | 1 | 302 | 0.0033 | -13 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18491819 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0201a0001c0004t0008g0202 | 2 | 302 | 0.0066 | -13 | 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 | 18495569 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0184 | 1 | 302 | 0.0033 | -13 | c.172 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18502689 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0017 | 1 | 302 | 0.0033 | -13 | c.431 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |