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 | 64666872 | A | AGAG | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01192.hp1 others(46): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0021a0001c0001t0001g0026a0001c0001t0001g0027others(46): Show | 49 | 166 | 0.2952 | 3 | c.238 others(20): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 16/26 | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13202683 | C | CAAA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0016a0001c0037a0001c0058others(12): Show | a0001c0016t0004a0001c0037t0004a0001c0058t0004others(12): Show | a0001c0016t0004g0047a0001c0016t0004g0074a0001c0037t0004g0021others(13): Show | 16 | 218 | 0.0734 | 3 | c.*46 others(14): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3758 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13204781 | A | ATTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01109.hp1 others(15): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0016a0001c0018others(13): Show | a0001c0001t0004a0001c0016t0004a0001c0018t0001others(14): Show | a0001c0001t0004g0017a0001c0016t0004g0074a0001c0018t0001g0037others(15): Show | 18 | 218 | 0.0826 | 3 | c.*25 others(14): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1660 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13207858 | C | CCTG | conservative_inframe_insertion | MODERATE | HG00423.hp1 HG00423.hp2 HG01496.hp1 others(9): Show |
a0007a0012a0041others(1): Show | a0007c0009a0007c0075a0007c0100others(5): Show | a0007c0009t0003a0007c0009t0034a0007c0009t0038others(7): Show | a0007c0009t0003g0031a0007c0009t0003g0069a0007c0009t0034g0163others(9): Show | 12 | 218 | 0.0551 | 3 | c.697 others(12): Show |
p.Gln others(7): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6975/7521 | 2325/2506 | chr19 | TogoVar | ||
CACNA1A_chr19_13201442_13511479 | 13213672 | C | CTTT | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01081.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0020others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0015others(11): Show | a0001c0001t0001g0019a0001c0001t0004g0013a0001c0004t0015g0140others(12): Show | 15 | 218 | 0.0688 | 3 | c.594 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 40/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13221219 | T | TTTC | intron_variant | MODIFIER | HG00423.hp2 HG01256.hp1 HG04115.hp1 |
a0008a0012 | a0008c0012a0012c0065 | a0008c0012t0003a0008c0012t0006a0012c0065t0017 | a0008c0012t0003g0091a0008c0012t0006g0120a0012c0065t0017g0055 | 3 | 218 | 0.0138 | 3 | c.573 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13221222 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00609.hp2 others(54): Show |
a0001a0002a0003others(18): Show | a0001c0004a0001c0005a0001c0006others(43): Show | a0001c0004t0001a0001c0005t0047a0001c0006t0008others(48): Show | a0001c0004t0001g0097a0001c0005t0047g0024a0001c0006t0008g0134others(54): Show | 57 | 218 | 0.2615 | 3 | c.573 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13227903 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp1 others(33): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(29): Show | a0001c0001t0001g0025a0001c0001t0001g0115a0001c0001t0004g0155others(33): Show | 36 | 218 | 0.1651 | 3 | c.552 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 36/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13234048 | T | TAAA | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01257.hp2 others(2): Show |
a0001a0005a0025others(1): Show | a0001c0001a0001c0004a0005c0022others(2): Show | a0001c0001t0001a0001c0004t0011a0005c0022t0004others(2): Show | a0001c0001t0001g0050a0001c0004t0011g0157a0005c0022t0004g0092others(2): Show | 5 | 218 | 0.0229 | 3 | c.524 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 34/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13251131 | C | CAAA | intron_variant | MODIFIER | HG02647.hp2 HG04115.hp1 HG04184.hp1 others(2): Show |
a0002a0007a0008others(2): Show | a0002c0002a0007c0100a0008c0012others(2): Show | a0002c0002t0006a0007c0100t0017a0008c0012t0006others(2): Show | a0002c0002t0006g0142a0007c0100t0017g0039a0008c0012t0006g0120others(2): Show | 5 | 218 | 0.0229 | 3 | c.486 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13253445 | C | CTTT | intron_variant | MODIFIER | HG00423.hp2 HG02165.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0008others(5): Show | a0001c0004a0001c0006a0002c0003others(6): Show | a0001c0004t0001a0001c0006t0008a0002c0003t0003others(6): Show | a0001c0004t0001g0199a0001c0006t0008g0134a0002c0003t0003g0166others(6): Show | 9 | 218 | 0.0413 | 3 | c.475 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 29/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13259312 | C | CTTT | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG02056.hp2 others(11): Show |
a0001a0002a0007others(7): Show | a0001c0026a0001c0031a0001c0072others(10): Show | a0001c0026t0031a0001c0031t0013a0001c0072t0037others(10): Show | a0001c0026t0031g0104a0001c0031t0013g0123a0001c0072t0037g0213others(11): Show | 14 | 218 | 0.0642 | 3 | c.438 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 27/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13291633 | T | TAAA | intron_variant | MODIFIER | HG00609.hp2 HG01192.hp1 HG01261.hp1 others(7): Show |
a0001a0002a0005others(3): Show | a0001c0006a0001c0020a0001c0026others(5): Show | a0001c0006t0001a0001c0020t0001a0001c0026t0001others(6): Show | a0001c0006t0001g0032a0001c0020t0001g0051a0001c0026t0001g0144others(7): Show | 10 | 218 | 0.0459 | 3 | c.309 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13293834 | A | AGAG | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(126): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0004a0001c0005others(76): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(100): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(126): Show | 129 | 218 | 0.5917 | 3 | c.308 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13306059 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(18): Show |
a0001a0002a0003others(7): Show | a0001c0018a0001c0020a0001c0031others(15): Show | a0001c0018t0001a0001c0020t0001a0001c0031t0036others(16): Show | a0001c0018t0001g0037a0001c0018t0001g0056a0001c0020t0001g0188others(18): Show | 21 | 218 | 0.0963 | 3 | c.198 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 15/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13313498 | T | TAAA | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG03471.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0026a0001c0122others(7): Show | a0001c0001t0004a0001c0001t0005a0001c0026t0031others(8): Show | a0001c0001t0004g0155a0001c0001t0005g0168a0001c0026t0031g0104others(8): Show | 11 | 218 | 0.0505 | 3 | c.155 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13316552 | T | TAAA | intron_variant | MODIFIER | HG01123.hp2 HG01934.hp2 HG02280.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0071a0002c0085others(3): Show | a0001c0005t0008a0001c0071t0013a0002c0085t0005others(3): Show | a0001c0005t0008g0204a0001c0071t0013g0138a0002c0085t0005g0085others(3): Show | 6 | 218 | 0.0275 | 3 | c.155 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13318127 | A | ATTT | intron_variant | MODIFIER | HG01123.hp2 HG02280.hp2 HG02451.hp1 others(2): Show |
a0001a0003a0020others(1): Show | a0001c0005a0001c0071a0003c0013others(2): Show | a0001c0005t0008a0001c0071t0013a0003c0013t0027others(2): Show | a0001c0005t0008g0204a0001c0071t0013g0138a0003c0013t0027g0149others(2): Show | 5 | 218 | 0.0229 | 3 | c.134 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13318890 | C | CTTT | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01109.hp2 others(15): Show |
a0001a0002a0007others(5): Show | a0001c0001a0001c0005a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0047others(13): Show | a0001c0001t0001g0182a0001c0001t0004g0155a0001c0005t0047g0024others(15): Show | 18 | 218 | 0.0826 | 3 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13324709 | A | ACAC | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(31): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0018others(27): Show | a0001c0001t0001a0001c0005t0008a0001c0018t0001others(28): Show | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0005t0008g0204others(31): Show | 34 | 218 | 0.1560 | 3 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13325092 | T | TTCC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(131): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0005others(79): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(103): Show | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0115others(131): Show | 134 | 218 | 0.6147 | 3 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13325196 | C | CTTT | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02486.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0031others(8): Show | a0001c0004t0001a0001c0006t0005a0001c0006t0008others(10): Show | a0001c0004t0001g0078a0001c0006t0005g0110a0001c0006t0008g0217others(11): Show | 14 | 218 | 0.0642 | 3 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13329783 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(31): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0018others(27): Show | a0001c0001t0001a0001c0005t0008a0001c0018t0001others(28): Show | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0005t0008g0204others(31): Show | 34 | 218 | 0.1560 | 3 | c.134 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13347060 | T | TTTG | intron_variant | MODIFIER | HG02559.hp1 NA18906.hp1 NA18964.hp1 |
a0001a0003 | a0001c0005a0003c0015 | a0001c0005t0004a0001c0005t0010a0003c0015t0002 | a0001c0005t0004g0201a0001c0005t0010g0202a0003c0015t0002g0167 | 3 | 218 | 0.0138 | 3 | c.979 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13352403 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01167.hp2 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0002c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0029others(13): Show | a0001c0001t0001g0019a0001c0001t0001g0128a0001c0001t0001g0194others(16): Show | 19 | 218 | 0.0872 | 3 | c.978 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13367294 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02970.hp2 others(3): Show |
a0003a0004a0010others(1): Show | a0003c0035a0003c0084a0004c0093others(3): Show | a0003c0035t0016a0003c0084t0016a0004c0093t0010others(3): Show | a0003c0035t0016g0076a0003c0084t0016g0145a0004c0093t0010g0046others(3): Show | 6 | 218 | 0.0275 | 3 | c.632 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13368338 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01109.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0015others(10): Show | a0001c0001t0001g0115a0001c0001t0004g0155a0001c0004t0015g0140others(11): Show | 14 | 218 | 0.0642 | 3 | c.632 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13399394 | G | GAGA | intron_variant | MODIFIER | HG01099.hp2 NA18944.hp2 |
a0006a0013 | a0006c0060a0013c0027 | a0006c0060t0002a0013c0027t0001 | a0006c0060t0002g0016a0013c0027t0001g0179 | 2 | 218 | 0.0092 | 3 | c.540 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13446442 | C | CTTT | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG03516.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0026a0003c0035a0004c0123others(2): Show | a0001c0026t0031a0003c0035t0016a0003c0035t0024others(3): Show | a0001c0026t0031g0104a0003c0035t0016g0076a0003c0035t0024g0005others(3): Show | 6 | 218 | 0.0275 | 3 | c.539 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13450139 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(32): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0005others(26): Show | a0001c0001t0001a0001c0004t0032a0001c0005t0004others(30): Show | a0001c0001t0001g0050a0001c0004t0032g0081a0001c0005t0004g0201others(32): Show | 35 | 218 | 0.1606 | 3 | c.539 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13466661 | A | ACTG | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02647.hp1 |
a0010a0020a0023 | a0010c0083a0020c0078a0023c0113 | a0010c0083t0014a0020c0078t0019a0023c0113t0013 | a0010c0083t0014g0159a0020c0078t0019g0151a0023c0113t0013g0096 | 3 | 218 | 0.0138 | 3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13466676 | G | GCTA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(106): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0005others(77): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(93): Show | a0001c0001t0001g0115a0001c0001t0001g0128a0001c0001t0001g0193others(106): Show | 109 | 218 | 0.5000 | 3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13466687 | C | CAAT | intron_variant | MODIFIER | HG00544.hp1 HG01192.hp1 HG02055.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0034a0001c0126others(3): Show | a0001c0004t0001a0001c0034t0001a0001c0126t0022others(3): Show | a0001c0004t0001g0078a0001c0034t0001g0072a0001c0126t0022g0006others(3): Show | 6 | 218 | 0.0275 | 3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13466703 | A | AATC | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02486.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0002a0003c0110others(3): Show | a0001c0006t0008a0002c0002t0015a0003c0110t0006others(3): Show | a0001c0006t0008g0134a0002c0002t0015g0160a0003c0110t0006g0137others(3): Show | 6 | 218 | 0.0275 | 3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13469615 | A | ATTT | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02615.hp2 others(5): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0035a0005c0024others(5): Show | a0001c0001t0001a0003c0035t0024a0005c0024t0008others(5): Show | a0001c0001t0001g0025a0003c0035t0024g0005a0005c0024t0008g0214others(5): Show | 8 | 218 | 0.0367 | 3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13488390 | C | CTTT | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02809.hp2 others(4): Show |
a0002a0003a0006others(2): Show | a0002c0117a0003c0046a0003c0094others(4): Show | a0002c0117t0009a0003c0046t0003a0003c0094t0018others(4): Show | a0002c0117t0009g0079a0003c0046t0003g0116a0003c0094t0018g0208others(4): Show | 7 | 218 | 0.0321 | 3 | c.293 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13499447 | T | TGGG | intron_variant | MODIFIER | HG00438.hp2 HG02056.hp2 HG02280.hp2 others(4): Show |
a0001a0002a0004others(4): Show | a0001c0034a0002c0002a0004c0007others(4): Show | a0001c0034t0001a0002c0002t0002a0004c0007t0009others(4): Show | a0001c0034t0001g0068a0002c0002t0002g0011a0004c0007t0009g0147others(4): Show | 7 | 218 | 0.0321 | 3 | c.293 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13506276 | A | ACGC | 5_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG03195.hp1 others(3): Show |
a0001a0003a0010others(2): Show | a0001c0096a0001c0126a0003c0035others(3): Show | a0001c0096t0025a0001c0126t0022a0003c0035t0024others(3): Show | a0001c0096t0025g0003a0001c0126t0022g0006a0003c0035t0024g0005others(3): Show | 6 | 218 | 0.0275 | 3 | c.-55 others(10): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/47 | 53 | chr19 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13510056 | A | AGGG | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01255.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0058others(8): Show | a0001c0001t0004a0001c0004t0011a0001c0058t0004others(8): Show | a0001c0001t0004g0155a0001c0004t0011g0157a0001c0058t0004g0083others(8): Show | 11 | 218 | 0.0505 | 3 | c.-38 others(14): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3578 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137884957 | T | TCCC | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(32): Show |
a0001a0002a0011 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(19): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0123others(32): Show | 35 | 248 | 0.1411 | 3 | c.530 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 137884966 | C | CCCT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(9): Show |
a0001a0003a0021others(1): Show | a0001c0003a0003c0006a0021c0027others(1): Show | a0001c0003t0044a0001c0003t0045a0003c0006t0001others(4): Show | a0001c0003t0044g0011a0001c0003t0045g0008a0003c0006t0001g0147others(9): Show | 12 | 248 | 0.0484 | 3 | c.530 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 137921049 | T | TGAG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(243): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0003a0001c0005others(54): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(106): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(243): Show | 246 | 248 | 0.9919 | 3 | c.966 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 137942624 | G | GACT | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
a0006a0021a0022 | a0006c0014a0006c0026a0021c0027others(1): Show | a0006c0014t0006a0006c0026t0006a0021c0027t0024others(1): Show | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | 248 | 0.0242 | 3 | c.967 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138056933 | G | GTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00609.hp2 others(64): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0005others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(31): Show | a0001c0002t0001g0057a0001c0002t0001g0058a0001c0002t0001g0060others(64): Show | 67 | 248 | 0.2702 | 3 | c.396 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138088959 | C | CAAA | intron_variant | MODIFIER | HG01255.hp1 HG02622.hp2 HG03453.hp1 others(5): Show |
a0001a0002a0010 | a0001c0050a0002c0001a0002c0008others(1): Show | a0001c0050t0040a0002c0001t0002a0002c0001t0005others(4): Show | a0001c0050t0040g0129a0002c0001t0002g0226a0002c0001t0005g0231others(5): Show | 8 | 248 | 0.0323 | 3 | c.509 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138090701 | C | CAAA | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG02257.hp2 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0013a0002c0001others(5): Show | a0001c0003t0006a0001c0003t0043a0001c0013t0009others(7): Show | a0001c0003t0006g0136a0001c0003t0043g0127a0001c0013t0009g0203others(7): Show | 10 | 248 | 0.0403 | 3 | c.509 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138113078 | T | TGTG | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(9): Show |
a0001a0002a0005others(2): Show | a0001c0003a0001c0051a0002c0004others(3): Show | a0001c0003t0007a0001c0051t0007a0002c0004t0007others(3): Show | a0001c0003t0007g0106a0001c0003t0007g0111a0001c0003t0007g0114others(9): Show | 12 | 248 | 0.0484 | 3 | c.553 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138124725 | T | TTTG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show |
a0001a0002a0003others(18): Show | a0001c0002a0001c0003a0001c0005others(51): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(95): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(209): Show | 212 | 248 | 0.8548 | 3 | c.*27 others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 107 | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138128715 | C | CTTT | downstream_gene_variant | MODIFIER | HG02056.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0013others(6): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0013others(8): Show | a0001c0002t0001g0123a0001c0002t0008g0026a0001c0002t0008g0053others(11): Show | 14 | 248 | 0.0565 | 3 | c.*67 others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4097 | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2177590 | T | TCCC | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01358.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0010others(2): Show | a0001c0002t0001g0017a0001c0002t0001g0018a0001c0002t0001g0043others(4): Show | 7 | 104 | 0.0673 | 3 | c.477 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | chr12 | TogoVar |