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 | 2511571 | T | TACACAC | intron_variant | MODIFIER | HG01496.hp2 HG02647.hp2 HG03195.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0003c0027others(1): Show | a0001c0001t0004a0001c0001t0021a0001c0008t0033others(2): Show | a0001c0001t0004g0104 a0001c0001t0021g0055 a0001c0008t0033g0051 others(2): Show |
5 | 104 | 0.0481 | 6 | c.121 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 8/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2646768 | A | AAGAGAG | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0028a0001c0004t0004a0001c0004t0010others(3): Show | a0001c0001t0028g0081 a0001c0004t0004g0084 a0001c0004t0004g0086 others(4): Show |
7 | 104 | 0.0673 | 6 | c.391 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2657997 | A | AACACAC | intron_variant | MODIFIER | HG02145.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0005 | a0001c0001t0005g0042 a0001c0003t0005g0031 |
2 | 104 | 0.0192 | 6 | c.423 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53586276 | C | CTGTGTG | intron_variant | MODIFIER | HG02273.hp1 HG02735.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(2): Show | a0001c0001t0001g0175 a0001c0001t0004g0137 a0001c0001t0020g0075 others(2): Show |
5 | 210 | 0.0238 | 6 | c.484 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53586319 | T | TGTGTGC | intron_variant | MODIFIER | HG02683.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0045 | a0001c0001t0003g0084 a0001c0001t0045g0063 |
2 | 210 | 0.0095 | 6 | c.484 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53633451 | A | AAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(119): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0136 others(119): Show |
122 | 210 | 0.5810 | 6 | c.484 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53648829 | A | AACACAC | intron_variant | MODIFIER | HG00099.hp1 HG01891.hp1 HG02055.hp1 others(1): Show |
a0001 | a0001c0001a0001c0025 | a0001c0001t0003a0001c0001t0017a0001c0025t0080 | a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0017g0110 others(1): Show |
4 | 210 | 0.0191 | 6 | c.484 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53651366 | C | CTTTTTT | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0002a0001c0012a0001c0017 | a0001c0002t0006a0001c0002t0027a0001c0002t0036others(3): Show | a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 others(5): Show |
8 | 210 | 0.0381 | 6 | c.623 others(21): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 4/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53663781 | C | CTCTCTT | intron_variant | MODIFIER | HG02071.hp2 HG02083.hp2 NA18747.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0025a0001c0004t0002others(1): Show | a0001c0001t0001g0175 a0001c0002t0025g0054 a0001c0004t0002g0047 others(3): Show |
6 | 210 | 0.0286 | 6 | c.767 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 5/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53672758 | C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG01169.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0001a0001c0003t0004a0001c0005t0040others(3): Show | a0001c0003t0001g0168 a0001c0003t0004g0162 a0001c0005t0040g0108 others(3): Show |
6 | 210 | 0.0286 | 6 | c.111 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0021a0001c0001t0032a0001c0002t0065others(3): Show | a0001c0001t0021g0131 a0001c0001t0032g0206 a0001c0002t0065g0201 others(3): Show |
6 | 210 | 0.0286 | 6 | c.122 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53713543 | T | TGTGTGA | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG02129.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0043a0001c0002t0010others(9): Show | a0001c0001t0002g0061 a0001c0001t0043g0083 a0001c0002t0010g0195 others(10): Show |
13 | 210 | 0.0619 | 6 | c.139 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53733930 | T | TTGTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0020others(4): Show | a0001c0001t0002g0064 a0001c0001t0003g0049 a0001c0001t0003g0059 others(8): Show |
11 | 210 | 0.0524 | 6 | c.268 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 20/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53767565 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG02559.hp2 others(5): Show |
a0001a0004 | a0001c0002a0001c0008a0001c0012others(2): Show | a0001c0002t0025a0001c0002t0028a0001c0002t0054others(5): Show | a0001c0002t0025g0067 a0001c0002t0028g0198 a0001c0002t0054g0005 others(5): Show |
8 | 210 | 0.0381 | 6 | c.393 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTATATA | intron_variant | MODIFIER | HG02083.hp1 HG02486.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0014a0001c0001t0047a0001c0002t0013others(1): Show | a0001c0001t0014g0031 a0001c0001t0047g0066 a0001c0002t0013g0021 others(1): Show |
4 | 210 | 0.0191 | 6 | c.485 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTGTATA | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01346.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0091 a0001c0001t0003g0113 a0001c0001t0004g0160 others(3): Show |
6 | 210 | 0.0286 | 6 | c.485 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53787425 | C | CTGTGTG | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp1 HG02040.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0017a0001c0001t0024a0001c0001t0032others(13): Show | a0001c0001t0017g0110 a0001c0001t0024g0069 a0001c0001t0032g0012 others(19): Show |
22 | 210 | 0.1048 | 6 | c.498 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181481335 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01074.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0012others(14): Show | a0001c0001t0006g0042 a0001c0001t0009g0049 a0001c0001t0012g0060 others(14): Show |
17 | 206 | 0.0825 | 6 | c.-24 others(17): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2181 | chr1 | TogoVar | |||||||
CACNA1E_chr1_181478517_181813084 | 181501720 | A | AAGAGAG | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0003g0044 a0001c0001t0006g0042 a0001c0001t0009g0049 others(11): Show |
14 | 206 | 0.0680 | 6 | c.267 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181508147 | T | TTGTGTG | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(29): Show | a0001c0001t0004g0078 a0001c0001t0006g0050 a0001c0001t0008g0179 others(33): Show |
36 | 206 | 0.1748 | 6 | c.267 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181583103 | T | TACACAC | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01361.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0008a0001c0001t0019a0001c0004t0004others(5): Show | a0001c0001t0008g0179 a0001c0001t0019g0052 a0001c0004t0004g0072 others(6): Show |
9 | 206 | 0.0437 | 6 | c.951 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181596557 | C | CGTGTGT | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01243.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0039a0001c0001t0074others(3): Show | a0001c0001t0002g0001 a0001c0001t0039g0093 a0001c0001t0074g0109 others(4): Show |
7 | 206 | 0.0340 | 6 | c.951 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181718611 | A | AACACAC | intron_variant | MODIFIER | HG01978.hp1 NA19043.hp1 |
a0001a0002 | a0001c0028a0002c0032 | a0001c0028t0042a0002c0032t0079 | a0001c0028t0042g0025 a0002c0032t0079g0006 |
2 | 206 | 0.0097 | 6 | c.163 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181747154 | G | GATTCCT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(59): Show |
a0001a0002a0014 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0002g0001 a0001c0001t0002g0126 a0001c0001t0002g0195 others(59): Show |
62 | 206 | 0.3010 | 6 | c.372 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181759395 | C | CTGTGTG | intron_variant | MODIFIER | HG01069.hp2 HG02602.hp2 HG02895.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0009a0002c0002t0003a0002c0002t0013others(4): Show | a0001c0001t0009g0135 a0002c0002t0003g0043 a0002c0002t0013g0162 others(4): Show |
7 | 206 | 0.0340 | 6 | c.460 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181779819 | T | TACACAC | intron_variant | MODIFIER | HG01071.hp1 HG01258.hp2 HG02280.hp1 others(1): Show |
a0001a0003a0004 | a0001c0004a0003c0003a0004c0007 | a0001c0004t0036a0003c0003t0001a0004c0007t0001 | a0001c0004t0036g0062 a0003c0003t0001g0033 a0004c0007t0001g0016 others(1): Show |
4 | 206 | 0.0194 | 6 | c.526 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181795767 | A | AATATAT | intron_variant | MODIFIER | NA18972.hp1 NA18983.hp1 NA18988.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0083 a0003c0003t0005g0152 a0003c0003t0005g0170 others(1): Show |
4 | 206 | 0.0194 | 6 | c.620 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1F_chrX_49200063_49238340 | 49235826 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02559.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0057 others(4): Show |
7 | 290 | 0.0241 | 6 | c.-25 others(17): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 2487 | chrX | TogoVar | |||||||
CACNA1F_chrX_49200063_49238340 | 49235851 | A | ACACACG | upstream_gene_variant | MODIFIER | HG02683.hp1 NA20805.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0002 a0002c0003t0001g0009 |
2 | 290 | 0.0069 | 6 | c.-25 others(17): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 2512 | chrX | TogoVar | |||||||
CACNA1F_chrX_49200063_49238340 | 49235861 | A | ACACACG | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0013 | 1 | 290 | 0.0035 | 6 | c.-25 others(17): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 2522 | chrX | TogoVar | |||||||
CACNA1G_chr17_50555715_50632474 | 50569015 | T | TGTGTTG | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0010a0001c0041a0001c0045 | a0001c0010t0001a0001c0041t0002a0001c0045t0001 | a0001c0010t0001g0072 a0001c0010t0001g0128 a0001c0041t0002g0110 others(1): Show |
4 | 246 | 0.0163 | 6 | c.354 others(19): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 2/37 | chr17 | TogoVar | |||||||
CACNA1G_chr17_50555715_50632474 | 50589892 | T | TTCTCTC | intron_variant | MODIFIER | HG00544.hp2 HG02818.hp2 NA18942.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0002 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0185 others(1): Show |
4 | 246 | 0.0163 | 6 | c.230 others(23): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50589912 | C | CTCTCTG | intron_variant | MODIFIER | HG02486.hp1 HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0006a0001c0016 | a0001c0006t0001a0001c0016t0002 | a0001c0006t0001g0213 a0001c0016t0002g0075 a0001c0016t0002g0079 |
3 | 246 | 0.0122 | 6 | c.230 others(23): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50608525 | G | GATATAT | intron_variant | MODIFIER | HG01099.hp1 HG02280.hp1 HG02486.hp2 others(1): Show |
a0001a0002 | a0001c0010a0002c0009 | a0001c0010t0001a0001c0010t0004a0002c0009t0002 | a0001c0010t0001g0065 a0001c0010t0004g0220 a0001c0010t0004g0221 others(1): Show |
4 | 246 | 0.0163 | 6 | c.470 others(23): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1153342 | G | GGGGGCC | 5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
a0001a0002a0049others(2): Show | a0001c0101a0002c0002a0049c0069others(2): Show | a0001c0101t0016a0002c0002t0018a0049c0069t0033others(2): Show | a0001c0101t0016g0093 a0002c0002t0018g0069 a0049c0069t0033g0049 others(2): Show |
5 | 338 | 0.0148 | 6 | c.-13 others(15): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 373 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39571406 | G | GGCAGGA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(55): Show |
a0001a0002a0004others(8): Show | a0001c0002a0001c0055a0001c0059others(12): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(26): Show | a0001c0002t0002g0179 a0001c0002t0002g0189 a0001c0002t0002g0192 others(55): Show |
58 | 236 | 0.2458 | 6 | c.236 others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39596214 | T | TGGGCAG | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02895.hp1 others(1): Show |
a0001a0003 | a0001c0026a0003c0005 | a0001c0026t0015a0003c0005t0005a0003c0005t0008 | a0001c0026t0015g0136 a0003c0005t0005g0170 a0003c0005t0005g0172 others(1): Show |
4 | 236 | 0.0170 | 6 | c.237 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39598941 | G | GTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01934.hp2 HG02109.hp2 others(2): Show |
a0001a0006a0025 | a0001c0001a0006c0011a0025c0039 | a0001c0001t0005a0001c0001t0008a0006c0011t0005others(2): Show | a0001c0001t0005g0125 a0001c0001t0008g0131 a0006c0011t0005g0120 others(2): Show |
5 | 236 | 0.0212 | 6 | c.348 others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39601952 | T | TCCCTCC | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 HG03098.hp1 others(3): Show |
a0005a0011a0028others(1): Show | a0005c0006a0011c0015a0028c0062others(1): Show | a0005c0006t0006a0011c0015t0005a0011c0015t0015others(3): Show | a0005c0006t0006g0112 a0011c0015t0005g0108 a0011c0015t0015g0111 others(3): Show |
6 | 236 | 0.0254 | 6 | c.482 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39601968 | T | TCCCTCC | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0014a0002c0003 | a0001c0014t0001a0002c0003t0001a0002c0003t0010 | a0001c0014t0001g0045 a0002c0003t0001g0048 a0002c0003t0001g0049 others(3): Show |
6 | 236 | 0.0254 | 6 | c.482 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39601971 | C | CTCCCTT | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01192.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0028a0002c0003others(2): Show | a0001c0001t0007a0001c0028t0004a0002c0003t0009others(4): Show | a0001c0001t0007g0038 a0001c0028t0004g0138 a0002c0003t0009g0012 others(6): Show |
9 | 236 | 0.0381 | 6 | c.482 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39686619 | T | TATATGC | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01099.hp2 others(17): Show |
a0001a0004a0014others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0007a0001c0001t0038a0001c0002t0007others(9): Show | a0001c0001t0007g0038 a0001c0001t0007g0141 a0001c0001t0038g0161 others(17): Show |
20 | 236 | 0.0848 | 6 | c.*21 others(15): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(63): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(22): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 others(62): Show |
66 | 314 | 0.2102 | 6 | c.*40 others(17): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201036004 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG00738.hp2 others(14): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0013others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(9): Show | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0002t0001g0124 others(13): Show |
17 | 314 | 0.0541 | 6 | c.*38 others(17): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3507 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201056070 | G | GACACAC | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0201 a0001c0001t0001g0217 a0001c0001t0001g0247 others(24): Show |
27 | 314 | 0.0860 | 6 | c.361 others(25): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201082029 | A | ATTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01167.hp2 others(25): Show |
a0001a0002a0006others(3): Show | a0001c0003a0001c0011a0001c0021others(6): Show | a0001c0003t0001a0001c0003t0002a0001c0011t0001others(8): Show | a0001c0003t0001g0005 a0001c0003t0001g0072 a0001c0003t0001g0125 others(24): Show |
28 | 314 | 0.0892 | 6 | c.139 others(25): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201095121 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(97): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(28): Show | a0001c0001t0001g0240 a0001c0002t0001g0002 a0001c0002t0001g0028 others(93): Show |
100 | 314 | 0.3185 | 6 | c.259 others(23): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951969 | G | GTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0004g0002 a0001c0001t0004g0041 a0001c0001t0004g0050 others(15): Show |
18 | 144 | 0.1250 | 6 | c.316 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81955960 | C | CTATATA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0004t0006 | a0001c0001t0004g0029 a0001c0001t0004g0041 a0001c0001t0006g0098 others(1): Show |
4 | 144 | 0.0278 | 6 | c.315 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81978750 | A | AGTGTGT | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002 | a0001c0002t0001g0014 a0001c0003t0001g0011 a0001c0003t0001g0025 others(2): Show |
5 | 144 | 0.0347 | 6 | c.195 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar |