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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACHD1_chr1_64465129_64698053 | 64675993 | TTAATAAT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01258.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0076others(6): Show | 9 | 166 | 0.0542 | -9 | c.297 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG02280.hp2 NA19043.hp1 |
a0020a0044 | a0020c0074a0020c0078a0044c0112 | a0020c0074t0012a0020c0078t0019a0044c0112t0012 | a0020c0074t0012g0161a0020c0078t0019g0151a0044c0112t0012g0206 | 3 | 218 | 0.0138 | -9 | c.696 others(18): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6967/7521 | 2323/2506 | chr19 | TogoVar | ||
CACNA1A_chr19_13201442_13511479 | 13208174 | GGGAGGGG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01496.hp1 others(10): Show |
a0001a0003a0004others(6): Show | a0001c0031a0001c0072a0001c0096others(9): Show | a0001c0031t0013a0001c0031t0036a0001c0072t0037others(10): Show | a0001c0031t0013g0123a0001c0031t0036g0215a0001c0072t0037g0213others(10): Show | 13 | 218 | 0.0596 | -9 | c.678 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 46/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13208180 | GGGAGGAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(43): Show |
a0002a0003a0006others(11): Show | a0002c0002a0002c0003a0002c0010others(27): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(32): Show | a0002c0002t0002g0011a0002c0002t0002g0020a0002c0002t0002g0094others(43): Show | 46 | 218 | 0.2110 | -9 | c.678 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 46/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13213672 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01109.hp1 others(9): Show |
a0001a0004a0007others(4): Show | a0001c0031a0001c0072a0001c0125others(7): Show | a0001c0031t0013a0001c0031t0036a0001c0072t0037others(8): Show | a0001c0031t0013g0123a0001c0031t0036g0215a0001c0072t0037g0213others(9): Show | 12 | 218 | 0.0551 | -9 | c.594 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 40/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13268893 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01099.hp1 others(27): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0006others(23): Show | a0001c0001t0004a0001c0004t0001a0001c0006t0008others(26): Show | a0001c0001t0004g0013a0001c0004t0001g0078a0001c0006t0008g0148others(27): Show | 30 | 218 | 0.1376 | -9 | c.399 others(28): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13276697 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02895.hp2 others(2): Show |
a0001a0003a0020 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0004a0001c0005t0005a0001c0006t0029others(2): Show | a0001c0001t0004g0155a0001c0005t0005g0028a0001c0006t0029g0136others(2): Show | 5 | 218 | 0.0229 | -9 | c.388 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 23/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13346655 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA19030.hp2 |
a0001a0036 | a0001c0106a0036c0052 | a0001c0106t0001a0036c0052t0006 | a0001c0106t0001g0121a0036c0052t0006g0154 | 2 | 218 | 0.0092 | -9 | c.979 others(28): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13399394 | GAGAAGAA others(2): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
a0001a0010a0011others(2): Show | a0001c0005a0001c0006a0001c0034others(5): Show | a0001c0005t0047a0001c0006t0008a0001c0034t0001others(5): Show | a0001c0005t0047g0024a0001c0006t0008g0148a0001c0034t0001g0072others(5): Show | 8 | 218 | 0.0367 | -9 | c.540 others(28): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497522 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp1 |
a0003a0025 | a0003c0015a0025c0041 | a0003c0015t0008a0025c0041t0004 | a0003c0015t0008g0036a0025c0041t0004g0107 | 2 | 218 | 0.0092 | -9 | c.293 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138090701 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01069.hp2 others(6): Show |
a0002a0003 | a0002c0001a0002c0020a0002c0033others(1): Show | a0002c0001t0001a0002c0020t0002a0002c0033t0001others(1): Show | a0002c0001t0001g0165a0002c0001t0001g0208a0002c0001t0001g0214others(6): Show | 9 | 248 | 0.0363 | -9 | c.509 others(28): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2052611 | GCCGCGGC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0018others(3): Show | a0001c0003t0009a0001c0004t0004a0001c0004t0036others(4): Show | a0001c0003t0009g0085a0001c0004t0004g0084a0001c0004t0004g0086others(5): Show | 8 | 104 | 0.0769 | -9 | c.-95 others(18): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 375 | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2061539 | TGCACTGC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01106.hp2 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(60): Show | a0001c0001t0002g0001a0001c0001t0002g0096a0001c0001t0003g0063others(78): Show | 81 | 104 | 0.7789 | -9 | c.49+ others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2074153 | GGATAATG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(83): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0029a0001c0001t0002g0001a0001c0001t0002g0027others(83): Show | 86 | 104 | 0.8269 | -9 | c.49+ others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2194250 | GCCTCCTC others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01106.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0015others(17): Show | a0001c0001t0002g0096a0001c0001t0013g0014a0001c0001t0015g0030others(22): Show | 25 | 104 | 0.2404 | -9 | c.477 others(28): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2602631 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG03239.hp2 HG04115.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0038 | a0001c0002t0001g0026a0001c0002t0001g0093a0001c0008t0038g0044 | 3 | 104 | 0.0289 | -9 | c.296 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2699626 | ACAGTAGG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02280.hp2 HG03041.hp2 others(1): Show |
a0003 | a0003c0016a0003c0023a0003c0027others(1): Show | a0003c0016t0011a0003c0023t0011a0003c0027t0011others(1): Show | a0003c0016t0011g0082a0003c0023t0011g0048a0003c0027t0011g0013others(1): Show | 4 | 104 | 0.0385 | -9 | c.*84 others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1677 | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53585637 | CGGCCCTG others(2): Show |
C | intron_variant | MODIFIER | HG02965.hp2 NA19043.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0028a0001c0002t0054 | a0001c0002t0007g0006a0001c0002t0028g0198a0001c0002t0054g0005 | 3 | 210 | 0.0143 | -9 | c.484 others(28): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01891.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0017a0001c0002t0007others(6): Show | a0001c0001t0002g0061a0001c0001t0017g0110a0001c0002t0007g0158others(6): Show | 9 | 210 | 0.0429 | -9 | c.122 others(28): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53682365 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01346.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0015a0001c0001t0001g0142a0001c0001t0001g0149others(40): Show | 43 | 210 | 0.2048 | -9 | c.122 others(28): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01070.hp2 others(21): Show |
a0001a0002a0007others(5): Show | a0001c0007a0001c0026a0001c0033others(11): Show | a0001c0007t0001a0001c0026t0001a0001c0033t0001others(11): Show | a0001c0007t0001g0179a0001c0026t0001g0065a0001c0033t0001g0082others(20): Show | 24 | 314 | 0.0764 | -9 | c.*40 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81955976 | ATATATTT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0003g0016a0001c0001t0003g0034a0001c0001t0003g0051others(14): Show | 17 | 144 | 0.1181 | -9 | c.315 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82056939 | ACTCACAG others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01433.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0049a0001c0001t0001g0077others(12): Show | 15 | 144 | 0.1042 | -9 | c.879 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82092540 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01074.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0047others(19): Show | 22 | 144 | 0.1528 | -9 | c.527 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82150273 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02738.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0031a0001c0001t0005g0101a0001c0001t0006g0112others(2): Show | 5 | 144 | 0.0347 | -9 | c.355 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50429592 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01884.hp2 HG02055.hp1 others(17): Show |
a0001a0003 | a0001c0002a0003c0011 | a0001c0002t0001a0001c0002t0006a0001c0002t0013others(1): Show | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0037others(17): Show | 20 | 234 | 0.0855 | -9 | c.405 others(26): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50475730 | ACCGGCCA others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0009 | a0001c0001t0022a0002c0003t0003a0002c0003t0012others(2): Show | a0001c0001t0022g0097a0002c0003t0003g0032a0002c0003t0003g0035others(14): Show | 17 | 234 | 0.0727 | -9 | c.288 others(24): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54117678 | GCATAAGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0041 | a0001c0001t0001a0001c0041t0001 | a0001c0001t0001g0080a0001c0041t0001g0085 | 2 | 118 | 0.0170 | -9 | c.-50 others(20): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4873 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350977 | TTTTTGTT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02622.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0015others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0015t0001others(2): Show | a0001c0001t0001g0061a0001c0005t0001g0111a0001c0015t0001g0108others(2): Show | 5 | 118 | 0.0424 | -9 | c.321 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54380972 | ATTATGGA others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0094a0001c0005t0001g0005 | 2 | 118 | 0.0170 | -9 | c.322 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54451229 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01192.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(12): Show | a0001c0001t0001g0053a0001c0001t0001g0061a0001c0001t0001g0068others(20): Show | 23 | 118 | 0.1949 | -9 | c.382 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54453505 | TACAAACG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00639.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | 118 | 0.2712 | -9 | c.382 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54683962 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(17): Show | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0087others(30): Show | 33 | 118 | 0.2797 | -9 | c.116 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02622.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0061a0001c0001t0001g0080a0001c0002t0001g0060others(7): Show | 10 | 118 | 0.0848 | -9 | c.138 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54906201 | CAGGAAGG others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03453.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034a0001c0001t0001g0089a0001c0002t0001g0039 | 3 | 118 | 0.0254 | -9 | c.244 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54956613 | TCCTACAG others(2): Show |
T | intron_variant | MODIFIER | HG02486.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0031t0001 | a0001c0001t0001g0016a0001c0031t0001g0032 | 2 | 118 | 0.0170 | -9 | c.245 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55065722 | GGGAAGGA others(2): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03041.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0022others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0022t0001others(2): Show | a0001c0001t0001g0016a0001c0003t0001g0042a0001c0022t0001g0041others(2): Show | 5 | 118 | 0.0424 | -9 | c.298 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18214626 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01167.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0037a0001c0001t0001g0049others(21): Show | 24 | 200 | 0.1200 | -9 | c.213 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18289288 | TTTTGTTT others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01169.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0058others(16): Show | 19 | 200 | 0.0950 | -9 | c.214 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18290112 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0001t0008a0001c0001t0019others(3): Show | a0001c0001t0006g0134a0001c0001t0008g0082a0001c0001t0019g0126others(3): Show | 6 | 200 | 0.0300 | -9 | c.214 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18492630 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01192.hp1 HG02055.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0001g0058a0001c0001t0006g0023a0001c0001t0006g0028others(16): Show | 19 | 200 | 0.0950 | -9 | c.334 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18499617 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG00741.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0058a0001c0001t0001g0079a0001c0001t0001g0117others(33): Show | 36 | 200 | 0.1800 | -9 | c.456 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18522877 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01192.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0025a0001c0001t0001g0034a0001c0001t0001g0045others(22): Show | 25 | 200 | 0.1250 | -9 | c.944 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18492630 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01192.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0001g0091a0001c0001t0005g0012a0001c0001t0005g0065others(18): Show | 21 | 302 | 0.0695 | -9 | c.172 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18499617 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00741.hp1 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0091a0001c0001t0001g0168others(43): Show | 46 | 302 | 0.1523 | -9 | c.294 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18522877 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01192.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0033others(36): Show | 39 | 302 | 0.1291 | -9 | c.782 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18536266 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0259others(5): Show | 8 | 302 | 0.0265 | -9 | c.114 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151902032 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(11): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(47): Show | 50 | 230 | 0.2174 | -9 | c.148 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151974815 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(59): Show | 62 | 230 | 0.2696 | -9 | c.148 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 152029508 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02055.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0139a0001c0001t0002g0140a0001c0001t0004g0223others(26): Show | 29 | 230 | 0.1261 | -9 | c.147 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar |