view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1A_chr19_13201442_13511479 | 13248409 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0001a0003a0028 | a0001c0037a0001c0038a0001c0106others(2): Show | a0001c0037t0001a0001c0038t0002a0001c0106t0001others(2): Show | a0001c0037t0001g0028 a0001c0038t0002g0206 a0001c0106t0001g0121 others(2): Show |
5 | 97 | 0.0515 | -7 | c.486 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13268893 | CTTTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp2 HG02602.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0010a0002c0114others(3): Show | a0001c0006t0013a0002c0010t0002a0002c0114t0002others(3): Show | a0001c0006t0013g0136 a0002c0010t0002g0066 a0002c0114t0002g0189 others(3): Show |
6 | 48 | 0.1250 | -7 | c.399 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13367294 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00735.hp2 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0026others(11): Show | a0001c0004t0001a0001c0005t0001a0001c0026t0001others(11): Show | a0001c0004t0001g0043 a0001c0004t0001g0080 a0001c0004t0001g0114 others(14): Show |
17 | 124 | 0.1371 | -7 | c.632 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13410540 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01952.hp2 others(22): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(17): Show | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0117 others(22): Show |
25 | 163 | 0.1534 | -7 | c.540 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | TAAAAAAA | T | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp2 HG02109.hp2 others(13): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(12): Show | a0001c0001t0001g0038 a0001c0004t0001g0075 a0001c0006t0001g0110 others(13): Show |
16 | 45 | 0.3556 | -7 | c.539 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13446264 | AAAAAAGG | A | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01099.hp1 others(38): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0006others(33): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0021others(36): Show | a0001c0001t0001g0117 a0001c0005t0001g0179 a0001c0005t0021g0021 others(38): Show |
41 | 216 | 0.1898 | -7 | c.539 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497522 | ATATATAT | A | intron_variant | MODIFIER | HG00438.hp1 HG01516.hp1 HG01981.hp1 |
a0003a0007a0011 | a0003c0054a0007c0008a0011c0025 | a0003c0054t0004a0007c0008t0002a0011c0025t0001 | a0003c0054t0004g0053 a0007c0008t0002g0097 a0011c0025t0001g0093 |
3 | 188 | 0.0160 | -7 | c.293 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137999233 | AAAAAAAT | A | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
a0002a0004 | a0002c0001a0002c0004a0004c0023 | a0002c0001t0032a0002c0004t0023a0004c0023t0008others(1): Show | a0002c0001t0032g0079 a0002c0004t0023g0020 a0004c0023t0008g0077 others(1): Show |
4 | 246 | 0.0163 | -7 | c.197 others(26): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138088959 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(51): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0005others(18): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0013others(26): Show | a0001c0002t0001g0032 a0001c0002t0001g0056 a0001c0002t0001g0057 others(51): Show |
54 | 59 | 0.9153 | -7 | c.509 others(26): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2064437 | AGCTCTGT | A | intron_variant | MODIFIER | HG02523.hp1 NA18989.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0010a0001c0014 | a0001c0002t0001a0001c0010t0003a0001c0014t0039 | a0001c0002t0001g0094 a0001c0010t0003g0059 a0001c0014t0039g0095 |
3 | 104 | 0.0288 | -7 | 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 | 2227857 | TCTTACAA | T | intron_variant | MODIFIER | HG02896.hp1 HG03098.hp2 |
a0001a0006 | a0001c0003a0006c0028 | a0001c0003t0005a0006c0028t0006 | a0001c0003t0005g0036 a0006c0028t0006g0051 |
2 | 104 | 0.0192 | -7 | 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 | 2232227 | GTTTTTTT | G | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02257.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(8): Show | a0001c0001t0004g0104 a0001c0001t0005g0015 a0001c0001t0015g0016 others(8): Show |
11 | 63 | 0.1746 | -7 | 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 | 2331822 | GTTCTTTT | G | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01496.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0003g0068 a0001c0001t0004g0004 a0001c0001t0004g0042 others(31): Show |
34 | 104 | 0.3269 | -7 | c.478 others(28): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2414068 | GCCCAAGT | G | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01106.hp1 others(22): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0004g0006 others(22): Show |
25 | 104 | 0.2404 | -7 | c.478 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2535704 | TAAAAAAA | T | intron_variant | MODIFIER | HG02273.hp2 HG02280.hp2 HG02647.hp2 others(6): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0003a0001c0001t0015a0001c0001t0021others(6): Show | a0001c0001t0003g0068 a0001c0001t0015g0035 a0001c0001t0021g0060 others(6): Show |
9 | 40 | 0.2250 | -7 | c.139 others(28): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2602631 | TGTGTGTG | T | intron_variant | MODIFIER | HG01071.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0024a0001c0031t0002 | a0001c0001t0024g0079 a0001c0031t0002g0029 |
2 | 101 | 0.0198 | -7 | c.296 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | chr12 | TogoVar | |||||||
CACNA1D_chr3_53489611_53818733 | 53520897 | TTCTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG01934.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0006a0001c0002t0016others(9): Show | a0001c0001t0002g0062 a0001c0001t0002g0099 a0001c0002t0006g0192 others(10): Show |
13 | 183 | 0.0710 | -7 | c.483 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53531370 | TAGAATAG | T | intron_variant | MODIFIER | HG02735.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0002 | a0001c0001t0003g0096 a0001c0004t0002g0050 |
2 | 208 | 0.0096 | -7 | c.483 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0024others(2): Show | a0001c0001t0066a0001c0002t0010a0001c0002t0034others(3): Show | a0001c0001t0066g0045 a0001c0002t0010g0195 a0001c0002t0034g0183 others(3): Show |
6 | 39 | 0.1538 | -7 | c.122 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53806180 | TCCTCCTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(67): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0136 others(67): Show |
70 | 208 | 0.3365 | -7 | c.580 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 46/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181793857 | AATATCTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0123 a0001c0001t0006g0189 |
2 | 204 | 0.0098 | -7 | c.602 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201046167 | TTTATTTA | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(33): Show |
a0002a0007a0013others(6): Show | a0002c0008a0002c0010a0002c0012others(17): Show | a0002c0008t0001a0002c0010t0001a0002c0012t0001others(18): Show | a0002c0008t0001g0038 a0002c0008t0001g0218 a0002c0008t0001g0220 others(32): Show |
36 | 312 | 0.1154 | -7 | c.466 others(24): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0062 a0001c0001t0004g0021 a0001c0001t0004g0022 others(6): Show |
9 | 68 | 0.1324 | -7 | c.527 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82138426 | GTTTTGTT | G | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01261.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0039 a0001c0001t0004g0071 a0001c0001t0005g0106 others(6): Show |
9 | 123 | 0.0732 | -7 | c.355 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82174042 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0007g0015 others(4): Show |
7 | 53 | 0.1321 | -7 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | ATTTTTTT | A | intron_variant | MODIFIER | HG02683.hp2 HG02886.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0004g0029 a0001c0001t0006g0113 a0001c0001t0007g0059 others(2): Show |
5 | 13 | 0.3846 | -7 | c.295 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82297072 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0038 others(23): Show |
26 | 43 | 0.6047 | -7 | c.294 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82322451 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01496.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0051 a0001c0001t0004g0050 a0001c0001t0004g0053 others(7): Show |
10 | 64 | 0.1563 | -7 | c.294 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50459909 | CCCTGCAG | C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0009others(1): Show | a0001c0001t0019a0001c0001t0022a0002c0003t0003others(4): Show | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | 232 | 0.0862 | -7 | c.288 others(26): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50461757 | AAAAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(50): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0149 a0001c0001t0001g0227 others(50): Show |
53 | 232 | 0.2284 | -7 | c.288 others(26): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54350979 | TTTGTTTG | T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0018 | a0001c0001t0001a0001c0003t0001a0001c0018t0001 | a0001c0001t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0094 others(1): Show |
4 | 113 | 0.0354 | -7 | c.321 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 | C | intron_variant | MODIFIER | HG02300.hp1 HG02630.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0033 a0001c0002t0002g0066 a0001c0003t0001g0011 others(1): Show |
4 | 12 | 0.3333 | -7 | c.382 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54484674 | TTTAATTG | T | intron_variant | MODIFIER | HG02622.hp2 HG03486.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0012g0063 |
3 | 116 | 0.0259 | -7 | c.382 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54541295 | AAAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG01169.hp1 HG01255.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0107 others(3): Show |
6 | 116 | 0.0517 | -7 | c.545 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54567505 | GGTTTTTT | G | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01123.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0034 others(17): Show |
20 | 116 | 0.1724 | -7 | c.677 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54567510 | TTTGTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0035 others(11): Show |
14 | 116 | 0.1207 | -7 | c.677 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54774629 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0004a0001c0005a0001c0006others(2): Show | a0001c0004t0001a0001c0005t0003a0001c0006t0007others(2): Show | a0001c0004t0001g0050 a0001c0005t0003g0055 a0001c0006t0007g0098 others(2): Show |
5 | 60 | 0.0833 | -7 | 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 | 54822820 | TTTCTTTC | T | intron_variant | MODIFIER | HG00438.hp1 NA19240.hp2 |
a0001 | a0001c0011a0001c0014 | a0001c0011t0001a0001c0014t0001 | a0001c0011t0001g0109 a0001c0014t0001g0102 |
2 | 110 | 0.0182 | -7 | c.139 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54840403 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0090 a0001c0002t0001g0039 a0001c0007t0001g0043 others(2): Show |
5 | 35 | 0.1429 | -7 | c.155 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55045792 | GTAATAGA | G | intron_variant | MODIFIER | HG01106.hp1 HG01255.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(7): Show | a0001c0001t0001g0016 a0001c0002t0002g0066 a0001c0002t0004g0001 others(9): Show |
12 | 116 | 0.1034 | -7 | c.298 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55074387 | TATCTATC | T | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02300.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(2): Show | a0001c0001t0002g0003 a0001c0001t0012g0063 a0001c0002t0002g0066 others(3): Show |
6 | 116 | 0.0517 | -7 | c.*18 others(16): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 38/38 | 186 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55075311 | ATTGTTTG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0029 | a0001c0002t0002a0001c0004t0002a0001c0029t0001 | a0001c0002t0002g0066 a0001c0002t0002g0091 a0001c0004t0002g0008 others(1): Show |
4 | 116 | 0.0345 | -7 | c.*11 others(18): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 755 | chr3 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1920362 | ATTTATTG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(297): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0083 others(297): Show |
300 | 316 | 0.9494 | -7 | c.-18 others(18): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 1711 | chr12 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18150855 | CTTTTTTT | C | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01167.hp1 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0058 a0001c0001t0003g0081 a0001c0001t0003g0199 others(9): Show |
12 | 96 | 0.1250 | -7 | c.121 others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18152726 | AAAAAAAC | A | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG01167.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(22): Show |
25 | 199 | 0.1256 | -7 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18184649 | GTTTTTTT | G | intron_variant | MODIFIER | HG00609.hp1 HG01192.hp1 HG01358.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0046others(2): Show | a0001c0001t0003g0080 a0001c0001t0006g0028 a0001c0001t0006g0134 others(4): Show |
7 | 15 | 0.4667 | -7 | c.213 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18286517 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01257.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0066 a0001c0001t0006g0005 a0001c0001t0008g0063 others(4): Show |
7 | 51 | 0.1373 | -7 | c.214 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18290112 | CTTTTTTT | C | intron_variant | MODIFIER | HG01496.hp2 HG02040.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0034 a0001c0001t0003g0173 a0001c0001t0004g0153 others(6): Show |
9 | 107 | 0.0841 | -7 | c.214 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18464418 | TAAAAAAA | T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01167.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0058 a0001c0001t0003g0172 a0001c0001t0003g0199 others(19): Show |
22 | 87 | 0.2529 | -7 | 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 | 18492632 | AAAAAAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG01943.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0098 others(11): Show |
14 | 200 | 0.0700 | -7 | c.334 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |