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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1C_chr12_2047987_2702950 | 2277362 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG03017.hp1 HG03098.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0002a0001c0004t0010a0001c0006t0001others(2): Show | a0001c0001t0002g0096 a0001c0004t0010g0020 a0001c0006t0001g0102 others(2): Show |
5 | 104 | 0.0481 | -12 | c.477 others(33): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2318897 | TGGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03516.hp1 NA18906.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0026a0004c0040 | a0001c0001t0001a0001c0001t0002a0001c0026t0003others(1): Show | a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0026t0003g0066 others(1): Show |
4 | 104 | 0.0385 | -12 | c.478 others(33): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2358251 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG02572.hp1 HG03041.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0036 | a0001c0002t0001a0001c0002t0003a0001c0003t0018others(1): Show | a0001c0002t0001g0036 a0001c0002t0003g0065 a0001c0003t0018g0068 others(1): Show |
4 | 104 | 0.0385 | -12 | c.478 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2371458 | GAGGAGCT others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03471.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0015a0001c0003t0037 | a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0003t0037g0003 |
3 | 104 | 0.0289 | -12 | c.478 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2437828 | GTGGTGGT others(5): Show |
G | intron_variant | MODIFIER | HG03490.hp1 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0010 | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0005t0010g0089 |
3 | 104 | 0.0289 | -12 | c.478 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2437836 | AATGATGG others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01496.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0088 a0001c0001t0002g0049 a0001c0001t0002g0096 others(12): Show |
15 | 104 | 0.1442 | -12 | c.478 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2535704 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0037 | a0001c0037t0007 | a0001c0037t0007g0100 | 1 | 104 | 0.0096 | -12 | c.139 others(33): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2572696 | TCTCCTCT others(5): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0027 | a0003c0027t0011 | a0003c0027t0011g0013 | 1 | 104 | 0.0096 | -12 | c.189 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2602629 | CTTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0013 | a0002c0013t0035 | a0002c0013t0035g0035 | 1 | 104 | 0.0096 | -12 | c.296 others(29): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2602630 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03041.hp2 |
a0002a0003 | a0002c0041a0003c0036 | a0002c0041t0016a0003c0036t0025 | a0002c0041t0016g0073 a0003c0036t0025g0078 |
2 | 104 | 0.0192 | -12 | c.296 others(29): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2646756 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02280.hp1 HG03239.hp1 |
a0001 | a0001c0001a0001c0010a0001c0029 | a0001c0001t0002a0001c0010t0008a0001c0029t0019 | a0001c0001t0002g0096 a0001c0010t0008g0064 a0001c0029t0019g0060 |
3 | 104 | 0.0289 | -12 | c.391 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2661270 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02723.hp2 HG02886.hp2 |
a0001a0003 | a0001c0011a0001c0022a0003c0027 | a0001c0011t0014a0001c0022t0014a0003c0027t0011 | a0001c0011t0014g0007 a0001c0022t0014g0050 a0003c0027t0011g0013 |
3 | 104 | 0.0289 | -12 | c.423 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53569890 | ATTTGGTT others(5): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0052 | a0001c0003t0052g0120 | 1 | 210 | 0.0048 | -12 | c.483 others(31): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | chr3 | TogoVar | |||||||
CACNA1D_chr3_53489611_53818733 | 53572357 | GGTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG02132.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0004t0001 | a0001c0002t0005g0098 a0001c0004t0001g0154 |
2 | 210 | 0.0095 | -12 | c.483 others(31): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53572366 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0146 | 1 | 210 | 0.0048 | -12 | c.483 others(31): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53572374 | GTTTATTT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0015 a0001c0001t0001g0142 a0001c0001t0002g0062 others(22): Show |
25 | 210 | 0.1191 | -12 | c.483 others(31): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53586276 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0048 | 1 | 210 | 0.0048 | -12 | c.484 others(31): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53672758 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00621.hp2 others(37): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0156 others(37): Show |
40 | 210 | 0.1905 | -12 | c.111 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02083.hp2 NA18962.hp2 NA18979.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0005others(3): Show | a0001c0001t0001g0175 a0001c0001t0012g0181 a0001c0002t0005g0071 others(4): Show |
7 | 210 | 0.0333 | -12 | c.122 others(31): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53734016 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 NA19030.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0073a0001c0002t0028a0001c0002t0034others(2): Show | a0001c0001t0073g0203 a0001c0002t0028g0198 a0001c0002t0034g0183 others(2): Show |
5 | 210 | 0.0238 | -12 | c.268 others(31): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 20/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53798316 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0037 | a0001c0001t0003g0113 a0001c0003t0037g0020 a0001c0003t0037g0038 |
3 | 210 | 0.0143 | -12 | c.498 others(31): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53810758 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0073 | 1 | 210 | 0.0048 | -12 | c.625 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 48/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53810775 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0008 | a0001c0008t0035 | a0001c0008t0035g0010 | 1 | 210 | 0.0048 | -12 | c.625 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 48/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53811559 | CCATAAAC others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0191 | 1 | 210 | 0.0048 | -12 | c.*15 others(21): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 49/49 | 154 | chr3 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181583103 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01109.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0024a0001c0005t0032others(12): Show | a0001c0001t0002g0126 a0001c0001t0024g0112 a0001c0005t0032g0029 others(13): Show |
16 | 206 | 0.0777 | -12 | c.951 others(29): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181596557 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG03225.hp2 |
a0001a0007 | a0001c0012a0007c0018 | a0001c0012t0038a0007c0018t0055 | a0001c0012t0038g0002 a0007c0018t0055g0156 |
2 | 206 | 0.0097 | -12 | c.951 others(31): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181680105 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0070 | 1 | 206 | 0.0049 | -12 | c.105 others(33): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181718611 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03831.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0126 a0001c0001t0004g0058 a0001c0001t0008g0179 others(1): Show |
4 | 206 | 0.0194 | -12 | c.163 others(29): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181793046 | TACAACAT others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0010 | 1 | 206 | 0.0049 | -12 | c.589 others(29): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1F_chrX_49200063_49238340 | 49235853 | ACACACAC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 290 | 0.0035 | -12 | c.-25 others(23): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 2514 | chrX | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1169162 | CGGGGTGG others(5): Show |
C | intron_variant | MODIFIER | NA18999.hp1 NA18999.hp2 NA19004.hp1 |
a0002a0011a0078 | a0002c0014a0011c0133a0078c0104 | a0002c0014t0007a0011c0133t0012a0078c0104t0004 | a0002c0014t0007g0083 a0011c0133t0012g0122 a0078c0104t0004g0033 |
3 | 338 | 0.0089 | -12 | c.299 others(31): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1202227 | CATGCCGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00738.hp1 | a0031 | a0031c0140 | a0031c0140t0031 | a0031c0140t0031g0256 | 1 | 338 | 0.0030 | -12 | c.177 others(21): Show |
p.His others(19): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2161/8219 | 1778/7062 | 593/2353 | chr16 | TogoVar | |||
CACNA1I_chr22_39565753_39694735 | 39570246 | CCCTTCCT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01496.hp2 others(4): Show |
a0001a0003 | a0001c0002a0001c0019a0003c0009others(1): Show | a0001c0002t0002a0001c0019t0001a0003c0009t0005others(2): Show | a0001c0002t0002g0206 a0001c0019t0001g0176 a0003c0009t0005g0177 others(4): Show |
7 | 236 | 0.0297 | -12 | c.-50 others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 506 | chr22 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39578010 | GCAGCTGT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(151): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0008others(43): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(94): Show | a0001c0001t0002g0060 a0001c0001t0002g0117 a0001c0001t0002g0145 others(151): Show |
154 | 236 | 0.6525 | -12 | c.236 others(29): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39583031 | ACCATCCA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02970.hp2 |
a0002a0017 | a0002c0003a0017c0044 | a0002c0003t0001a0017c0044t0033 | a0002c0003t0001g0106 a0017c0044t0033g0076 |
2 | 236 | 0.0085 | -12 | c.236 others(31): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39620150 | TCCATCCA others(5): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0128 | 1 | 236 | 0.0042 | -12 | c.580 others(27): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39620237 | GTCCATCC others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00733.hp2 others(33): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0019others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0060 a0001c0001t0002g0117 a0001c0001t0002g0145 others(33): Show |
36 | 236 | 0.1525 | -12 | c.580 others(27): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39620269 | ATCCATCC others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(88): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0008others(23): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(44): Show | a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0041 others(88): Show |
91 | 236 | 0.3856 | -12 | c.580 others(27): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201035818 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02738.hp2 HG02896.hp2 |
a0001a0004a0007 | a0001c0017a0004c0006a0007c0036 | a0001c0017t0001a0004c0006t0001a0007c0036t0001 | a0001c0017t0001g0047 a0004c0006t0001g0205 a0007c0036t0001g0287 |
3 | 314 | 0.0096 | -12 | c.*40 others(23): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81955976 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 | 1 | 144 | 0.0069 | -12 | c.315 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82000771 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00642.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(50): Show |
53 | 144 | 0.3681 | -12 | c.159 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03579.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0076 a0001c0001t0003g0088 a0001c0001t0004g0071 others(1): Show |
4 | 144 | 0.0278 | -12 | c.527 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82150267 | AAACAAAA others(5): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 144 | 0.0069 | -12 | c.355 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82186207 | GGGAGGGA others(5): Show |
G | intron_variant | MODIFIER | NA18995.hp1 NA19002.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0022 | a0001c0001t0002g0141 a0001c0001t0006g0112 a0001c0001t0022g0117 |
3 | 144 | 0.0208 | -12 | c.295 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82192460 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0068 others(15): Show |
18 | 144 | 0.1250 | -12 | c.295 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82232861 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0076 others(6): Show |
9 | 144 | 0.0625 | -12 | c.295 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82288422 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 NA18906.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0003 | a0001c0003t0001g0011 a0001c0003t0001g0072 a0001c0007t0003g0075 |
3 | 144 | 0.0208 | -12 | c.294 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82301730 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02027.hp1 NA19002.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0023 | a0001c0001t0002g0141 a0001c0001t0004g0071 a0001c0001t0023g0144 |
3 | 144 | 0.0208 | -12 | c.294 others(31): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82378938 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0002g0097 a0001c0001t0007g0078 a0001c0001t0007g0085 others(6): Show |
9 | 144 | 0.0625 | -12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82386735 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0005g0136 others(3): Show |
6 | 144 | 0.0417 | -12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar |