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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D3_chr3_54117552_55079557 | 54618352 | C | CATATAT | intron_variant | MODIFIER | HG02080.hp2 HG03130.hp2 HG03239.hp2 |
a0001 | a0001c0002a0001c0027a0001c0033 | a0001c0002t0001a0001c0027t0001a0001c0033t0001 | a0001c0002t0001g0020a0001c0027t0001g0014a0001c0033t0001g0114 | 3 | 118 | 0.0254 | 6 | c.964 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATATGC | intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 |
a0001 | a0001c0005a0001c0023 | a0001c0005t0001a0001c0023t0001 | a0001c0005t0001g0052a0001c0023t0001g0018 | 2 | 118 | 0.0170 | 6 | c.964 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATGCAC | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02630.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0035a0001c0001t0001g0053others(10): Show | 13 | 118 | 0.1102 | 6 | c.964 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618375 | G | GCACACA | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0043 | a0001c0001t0001a0001c0003t0001a0001c0043t0001 | a0001c0001t0001g0033a0001c0003t0001g0042a0001c0003t0001g0094others(1): Show | 4 | 118 | 0.0339 | 6 | c.964 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54618377 | A | ATATATG | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0004t0002a0001c0012t0005 | a0001c0001t0001g0107a0001c0004t0002g0008a0001c0012t0005g0027 | 3 | 118 | 0.0254 | 6 | c.964 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54631203 | A | AACACAC | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02615.hp1 |
a0001 | a0001c0008a0001c0012a0001c0034 | a0001c0008t0001a0001c0012t0011a0001c0034t0001 | a0001c0008t0001g0103a0001c0012t0011g0036a0001c0034t0001g0086 | 3 | 118 | 0.0254 | 6 | c.105 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54689010 | A | AAAAGAG | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0033a0001c0001t0001g0083others(4): Show | 7 | 118 | 0.0593 | 6 | 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 | 54736100 | C | CATACAT | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(13): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0001others(6): Show | a0001c0003t0001g0026a0001c0003t0001g0038a0001c0003t0001g0042others(13): Show | 16 | 118 | 0.1356 | 6 | 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 | 54736107 | A | ATGTATG | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0003a0001c0001t0012a0001c0008t0001others(4): Show | a0001c0001t0003g0058a0001c0001t0012g0063a0001c0008t0001g0103others(4): Show | 7 | 118 | 0.0593 | 6 | 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 | 54736109 | G | GTATGTA | intron_variant | MODIFIER | HG00280.hp1 HG01934.hp2 |
a0001 | a0001c0015a0001c0028 | a0001c0015t0001a0001c0028t0001 | a0001c0015t0001g0072a0001c0028t0001g0090 | 2 | 118 | 0.0170 | 6 | 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 | 54736116 | T | TATATAC | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01070.hp2 others(11): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0003t0001a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0003t0001g0026a0001c0003t0001g0038a0001c0003t0001g0042others(11): Show | 14 | 118 | 0.1186 | 6 | 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 | 54737182 | A | ATGTGTG | intron_variant | MODIFIER | HG02300.hp1 NA19240.hp1 NA20752.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0002t0002a0001c0012t0005 | a0001c0002t0001g0040a0001c0002t0002g0066a0001c0012t0005g0027 | 3 | 118 | 0.0254 | 6 | 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 | 54739751 | A | ATGTGTG | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0014t0001others(1): Show | a0001c0001t0003g0058a0001c0002t0002g0091a0001c0014t0001g0071others(1): Show | 4 | 118 | 0.0339 | 6 | 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 | 54832011 | T | TCATACA | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG01070.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(4): Show | a0001c0001t0001g0010a0001c0003t0001g0084a0001c0003t0001g0112others(5): Show | 8 | 118 | 0.0678 | 6 | c.139 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCACACA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0089a0001c0002t0001g0060a0001c0002t0001g0082others(12): Show | 15 | 118 | 0.1271 | 6 | c.162 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCGCGCA | intron_variant | MODIFIER | HG04115.hp1 NA19043.hp2 NA19068.hp2 |
a0001 | a0001c0001a0001c0003a0001c0019 | a0001c0001t0012a0001c0003t0001a0001c0019t0001 | a0001c0001t0012g0063a0001c0003t0001g0011a0001c0019t0001g0075 | 3 | 118 | 0.0254 | 6 | c.162 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54871204 | C | CACAGAG | intron_variant | MODIFIER | HG03041.hp1 HG03195.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0001a0001c0003t0001a0001c0014t0001 | a0001c0001t0001g0104a0001c0003t0001g0042a0001c0014t0001g0102 | 3 | 118 | 0.0254 | 6 | c.162 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54891180 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0029others(19): Show | 22 | 118 | 0.1864 | 6 | c.215 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54969261 | A | ATTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp1 HG01255.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0087a0001c0001t0001g0089others(16): Show | 19 | 118 | 0.1610 | 6 | c.251 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 28/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54976056 | T | TACACAC | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008a0001c0023others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0023t0001others(1): Show | a0001c0001t0001g0045a0001c0008t0001g0092a0001c0023t0001g0018others(1): Show | 4 | 118 | 0.0339 | 6 | c.255 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54993885 | A | AGTGTGT | intron_variant | MODIFIER | HG02630.hp2 NA18951.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0003 | a0001c0002t0001g0079a0001c0010t0003g0057 | 2 | 118 | 0.0170 | 6 | c.269 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55008888 | T | TACACAC | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0104a0001c0003t0001g0038others(8): Show | 11 | 118 | 0.0932 | 6 | c.282 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55021715 | G | GTATATA | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0002a0001c0032 | a0001c0002t0001a0001c0032t0001 | a0001c0002t0001g0040a0001c0002t0001g0060a0001c0002t0001g0070others(1): Show | 4 | 118 | 0.0339 | 6 | 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 | 55026987 | G | GCATGCA | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0053a0001c0001t0001g0061others(3): Show | 6 | 118 | 0.0509 | 6 | 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 | 55026991 | G | GCACACA | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02965.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0068a0001c0001t0001g0087others(12): Show | 15 | 118 | 0.1271 | 6 | 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 | 55033582 | G | GTATATA | intron_variant | MODIFIER | HG02630.hp1 HG02922.hp2 HG04204.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0035others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0053a0001c0001t0001g0118others(4): Show | 7 | 118 | 0.0593 | 6 | c.298 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D4_chr12_1786963_1923652 | 1804121 | C | CTGTGTG | intron_variant | MODIFIER | HG00673.hp1 HG01891.hp2 HG02165.hp1 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0049others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(4): Show | a0001c0001t0002g0094a0001c0001t0003g0052a0001c0002t0003g0280others(4): Show | 7 | 318 | 0.0220 | 6 | c.272 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1806329 | C | CTTATTA | intron_variant | MODIFIER | HG02970.hp1 HG03209.hp1 HG03540.hp2 others(1): Show |
a0001a0005 | a0001c0046a0005c0018a0005c0036 | a0001c0046t0001a0005c0018t0004a0005c0018t0013others(1): Show | a0001c0046t0001g0220a0005c0018t0004g0282a0005c0018t0013g0208others(1): Show | 4 | 318 | 0.0126 | 6 | c.272 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1835422 | T | TACACAC | intron_variant | MODIFIER | HG01074.hp2 HG01952.hp2 HG02970.hp2 others(1): Show |
a0001a0012a0013 | a0001c0001a0001c0052a0012c0026others(1): Show | a0001c0001t0010a0001c0052t0001a0012c0026t0021others(1): Show | a0001c0001t0010g0149a0001c0052t0001g0288a0012c0026t0021g0188others(1): Show | 4 | 318 | 0.0126 | 6 | c.255 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1848762 | A | AATTATT | intron_variant | MODIFIER | HG00673.hp1 HG01884.hp1 HG02071.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0042others(1): Show | a0001c0001t0003a0001c0004t0001a0001c0042t0001others(1): Show | a0001c0001t0003g0043a0001c0001t0003g0052a0001c0004t0001g0044others(2): Show | 5 | 318 | 0.0157 | 6 | c.224 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1851682 | T | TGTGTGC | intron_variant | MODIFIER | HG01257.hp1 HG01496.hp1 HG01981.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0004t0001 | a0001c0001t0002g0092a0001c0001t0003g0180a0001c0004t0001g0178others(2): Show | 5 | 318 | 0.0157 | 6 | c.224 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1896606 | A | AACACAC | intron_variant | MODIFIER | HG00738.hp1 HG03579.hp2 HG03834.hp2 |
a0001a0002 | a0001c0003a0002c0012a0002c0029 | a0001c0003t0008a0002c0012t0001a0002c0029t0001 | a0001c0003t0008g0303a0002c0012t0001g0018a0002c0029t0001g0020 | 3 | 318 | 0.0094 | 6 | c.782 others(23): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1898677 | C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00673.hp1 others(45): Show |
a0001a0007a0015others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0039a0001c0001t0001g0166a0001c0001t0001g0170others(45): Show | 48 | 318 | 0.1509 | 6 | c.781 others(23): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39173146 | A | AAAAAAG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(4): Show | a0001c0001t0002g0018a0001c0001t0002g0029a0001c0001t0002g0030others(38): Show | 50 | 396 | 0.1263 | 6 | c.*20 others(17): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 306 | chr17 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01361.hp1 HG01516.hp1 HG03492.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0001t0028others(2): Show | a0001c0001t0001g0010a0001c0001t0018g0011a0001c0001t0028g0013others(2): Show | 5 | 200 | 0.0250 | 6 | c.121 others(17): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18152736 | A | ACAAAAC | intron_variant | MODIFIER | HG02040.hp2 HG02055.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0171a0001c0001t0003g0081a0001c0001t0004g0166others(5): Show | 8 | 200 | 0.0400 | 6 | c.213 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18168497 | T | TTGTGTG | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0048others(1): Show | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0007g0188others(3): Show | 6 | 200 | 0.0300 | 6 | 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 | 18172924 | C | CTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(5): Show | a0001c0001t0001g0058a0001c0001t0001g0127a0001c0001t0003g0081others(10): Show | 13 | 200 | 0.0650 | 6 | 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 | 18181065 | G | GAAAAAA | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG02040.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0036others(19): Show | 22 | 200 | 0.1100 | 6 | 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 | CTGTGTG | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0067others(25): Show | 28 | 200 | 0.1400 | 6 | 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 | 18220201 | G | GTGTATA | intron_variant | MODIFIER | HG01257.hp2 HG01981.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0010a0001c0001t0001g0117a0001c0001t0023g0192 | 3 | 200 | 0.0150 | 6 | 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 | 18220237 | A | AGTTGGG | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0003 | a0001c0002t0002a0001c0006t0049a0002c0003t0024 | a0001c0002t0002g0140a0001c0002t0002g0142a0001c0006t0049g0076others(1): Show | 4 | 200 | 0.0200 | 6 | 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 | 18222407 | T | TACACAC | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02293.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0003g0081a0001c0001t0003g0173a0001c0001t0006g0017others(8): Show | 11 | 200 | 0.0550 | 6 | 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 | 18307983 | C | CATTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0003g0087a0001c0001t0006g0005a0001c0001t0007g0088others(6): Show | 9 | 200 | 0.0450 | 6 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18316140 | A | AATTTAC | intron_variant | MODIFIER | HG00423.hp1 HG01358.hp2 HG01943.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0104a0001c0001t0003g0047a0001c0002t0002g0112others(2): Show | 5 | 200 | 0.0250 | 6 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18335784 | A | AACACAC | intron_variant | MODIFIER | HG02451.hp2 NA19009.hp2 NA19084.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0029a0001c0002t0005 | a0001c0001t0019g0126a0001c0001t0029g0009a0001c0002t0005g0097 | 3 | 200 | 0.0150 | 6 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18356938 | A | ATGTCTT | intron_variant | MODIFIER | HG00408.hp2 HG01516.hp2 HG02109.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0049a0001c0001t0001g0127others(17): Show | 20 | 200 | 0.1000 | 6 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18358497 | G | GCTCTCT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02040.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0031a0001c0001t0003g0030a0001c0001t0004g0152others(2): Show | 5 | 200 | 0.0250 | 6 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18426955 | A | ATTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG02055.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0045a0001c0001t0003g0026a0001c0001t0003g0044others(15): Show | 18 | 200 | 0.0900 | 6 | 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 | 18495591 | G | GTGTGTA | intron_variant | MODIFIER | HG00408.hp2 HG02145.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0033a0001c0001t0039others(1): Show | a0001c0001t0001g0133a0001c0001t0033g0130a0001c0001t0039g0062others(1): Show | 4 | 200 | 0.0200 | 6 | c.334 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |