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 | 13429167 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02647.hp1 others(4): Show |
a0001a0003a0016others(1): Show | a0001c0015a0001c0035a0001c0070others(3): Show | a0001c0015t0004a0001c0035t0004a0001c0070t0013others(3): Show | a0001c0015t0004g0047 a0001c0015t0004g0074 a0001c0035t0004g0021 others(4): Show |
7 | 218 | 0.0321 | -10 | c.539 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13461340 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG01081.hp2 others(47): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0005others(34): Show | a0001c0001t0004a0001c0003t0001a0001c0003t0011others(40): Show | a0001c0001t0004g0017 a0001c0001t0004g0155 a0001c0003t0001g0018 others(47): Show |
50 | 218 | 0.2294 | -10 | c.294 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13482848 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG02056.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0025others(4): Show | a0001c0001t0001a0001c0003t0015a0001c0025t0001others(4): Show | a0001c0001t0001g0182 a0001c0003t0015g0140 a0001c0025t0001g0144 others(4): Show |
7 | 218 | 0.0321 | -10 | c.293 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497515 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0108 | a0001c0108t0001 | a0001c0108t0001g0121 | 1 | 218 | 0.0046 | -10 | c.293 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497517 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp1 |
a0001 | a0001c0003a0001c0025 | a0001c0003t0001a0001c0025t0001 | a0001c0003t0001g0080 a0001c0025t0001g0144 |
2 | 218 | 0.0092 | -10 | c.293 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497519 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0028 | a0002c0028t0002 | a0002c0028t0002g0165 | 1 | 218 | 0.0046 | -10 | c.293 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497521 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG03471.hp2 HG03688.hp2 HG03834.hp1 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0025a0002c0002others(3): Show | a0001c0003t0015a0001c0025t0031a0002c0002t0002others(3): Show | a0001c0003t0015g0140 a0001c0025t0031g0104 a0002c0002t0002g0011 others(3): Show |
6 | 218 | 0.0275 | -10 | c.293 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138090701 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0163 | 1 | 248 | 0.0040 | -10 | c.509 others(29): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2056196 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02647.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0002a0001c0008t0033 | a0001c0003t0002g0045 a0001c0008t0033g0051 |
2 | 104 | 0.0192 | -10 | c.49+ others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2124109 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG01993.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0005a0001c0001t0013a0001c0001t0022others(7): Show | a0001c0001t0005g0015 a0001c0001t0005g0097 a0001c0001t0013g0024 others(11): Show |
14 | 104 | 0.1346 | -10 | c.477 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2177618 | TTCCTTCC others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0037 | a0001c0037t0007 | a0001c0037t0007g0100 | 1 | 104 | 0.0096 | -10 | c.477 others(29): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2226125 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02055.hp1 HG02258.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0021others(10): Show | a0001c0001t0002g0096 a0001c0001t0005g0097 a0001c0001t0021g0055 others(11): Show |
14 | 104 | 0.1346 | -10 | c.477 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2277352 | CAGACAGA others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0028 | 1 | 104 | 0.0096 | -10 | c.477 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2277354 | GACAGACA others(3): Show |
G | intron_variant | MODIFIER | HG02683.hp2 HG03098.hp1 NA20300.hp2 |
a0001a0005 | a0001c0002a0001c0015a0005c0031 | a0001c0002t0001a0001c0015t0034a0005c0031t0001 | a0001c0002t0001g0094 a0001c0015t0034g0075 a0005c0031t0001g0077 |
3 | 104 | 0.0289 | -10 | c.477 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2277358 | GACAGACA others(3): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(6): Show | a0001c0001t0004g0104 a0001c0001t0005g0015 a0001c0001t0005g0042 others(8): Show |
11 | 104 | 0.1058 | -10 | c.477 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2277362 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02273.hp1 HG02523.hp2 others(7): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0024others(7): Show | a0001c0001t0002g0001 a0001c0001t0015g0030 a0001c0001t0024g0080 others(7): Show |
10 | 104 | 0.0962 | -10 | c.477 others(31): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2299836 | CAGCCTCT others(3): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02258.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0004a0001c0001t0021a0001c0004t0004others(1): Show | a0001c0001t0004g0005 a0001c0001t0021g0055 a0001c0004t0004g0084 others(1): Show |
4 | 104 | 0.0385 | -10 | 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 | 2358251 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01358.hp2 HG02257.hp2 others(12): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0017a0001c0001t0022a0001c0001t0045others(10): Show | a0001c0001t0017g0004 a0001c0001t0017g0101 a0001c0001t0022g0058 others(12): Show |
15 | 104 | 0.1442 | -10 | c.478 others(29): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2450553 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 104 | 0.0096 | -10 | c.617 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2491962 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0014 | a0001c0014t0032 | a0001c0014t0032g0023 | 1 | 104 | 0.0096 | -10 | c.917 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2602629 | CTTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0034 | a0001c0001t0021a0001c0001t0045a0001c0034t0020 | a0001c0001t0021g0055 a0001c0001t0045g0052 a0001c0034t0020g0070 |
3 | 104 | 0.0289 | -10 | c.296 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2602630 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01993.hp2 HG02451.hp1 others(14): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0003t0001a0001c0004t0010a0001c0005t0002others(12): Show | a0001c0003t0001g0009 a0001c0004t0010g0020 a0001c0005t0002g0090 others(14): Show |
17 | 104 | 0.1635 | -10 | c.296 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2646758 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0089 | 1 | 104 | 0.0096 | -10 | c.391 others(29): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2661264 | AACACATA others(3): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0005a0001c0003t0005a0001c0004t0004others(6): Show | a0001c0001t0005g0042 a0001c0003t0005g0031 a0001c0004t0004g0084 others(7): Show |
10 | 104 | 0.0962 | -10 | c.423 others(29): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53520890 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00621.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(20): Show | a0001c0001t0002g0064 a0001c0001t0003g0049 a0001c0001t0003g0059 others(22): Show |
25 | 210 | 0.1191 | -10 | c.483 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53586276 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0041a0001c0002t0010a0001c0002t0015others(3): Show | a0001c0001t0041g0125 a0001c0002t0010g0195 a0001c0002t0015g0127 others(3): Show |
6 | 210 | 0.0286 | -10 | c.484 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53663348 | AACAGGGA others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02071.hp2 HG02083.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0025others(9): Show | a0001c0001t0001g0175 a0001c0001t0017g0110 a0001c0002t0025g0054 others(11): Show |
14 | 210 | 0.0667 | -10 | c.767 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 5/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53672758 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01070.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(15): Show | a0001c0001t0001g0142 a0001c0001t0003g0049 a0001c0001t0003g0059 others(17): Show |
20 | 210 | 0.0952 | -10 | c.111 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG03579.hp2 NA20300.hp1 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0027a0001c0002t0069a0001c0014t0002 | a0001c0002t0027g0186 a0001c0002t0069g0039 a0001c0014t0002g0114 |
3 | 210 | 0.0143 | -10 | c.122 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53682365 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02132.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0002t0005a0001c0007t0030others(1): Show | a0001c0001t0002g0064 a0001c0002t0005g0098 a0001c0007t0030g0008 others(1): Show |
4 | 210 | 0.0191 | -10 | c.122 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53684621 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0021 | a0001c0021t0035 | a0001c0021t0035g0205 | 1 | 210 | 0.0048 | -10 | 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 | 53694178 | GTCTGGTG others(3): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0121 | 1 | 210 | 0.0048 | -10 | c.122 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53730245 | CTTTTGTT others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0041a0001c0002t0010a0001c0002t0027others(10): Show | a0001c0001t0041g0125 a0001c0002t0010g0190 a0001c0002t0027g0186 others(11): Show |
14 | 210 | 0.0667 | -10 | c.228 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 16/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53734016 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(91): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 others(91): Show |
94 | 210 | 0.4476 | -10 | c.268 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 20/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53798531 | GTCAGGAA others(3): Show |
G | intron_variant | MODIFIER | HG03139.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0046a0001c0002t0018 | a0001c0001t0046g0119 a0001c0002t0018g0111 |
2 | 210 | 0.0095 | -10 | c.498 others(29): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53813129 | ATTTTTTT others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0066 | 1 | 210 | 0.0048 | -10 | c.*17 others(21): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 49/49 | 1737 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181583103 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00741.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0002g0001 a0001c0001t0004g0058 a0001c0001t0004g0146 others(44): Show |
47 | 206 | 0.2282 | -10 | c.951 others(27): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181680105 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0186 | 1 | 206 | 0.0049 | -10 | c.105 others(31): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181718611 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01123.hp2 others(20): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0013others(16): Show | a0001c0001t0005g0015 a0001c0001t0011g0038 a0001c0001t0013g0105 others(20): Show |
23 | 206 | 0.1117 | -10 | c.163 others(27): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181737866 | CCAGGGCT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG01993.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0017a0002c0002t0003others(1): Show | a0001c0001t0005g0089 a0001c0001t0017g0045 a0001c0001t0017g0046 others(2): Show |
5 | 206 | 0.0243 | -10 | c.355 others(27): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181765148 | ACCTCCCC others(3): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0015 | a0001c0015t0047 | a0001c0015t0047g0027 | 1 | 206 | 0.0049 | -10 | c.481 others(29): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50564125 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0047 | a0001c0047t0001 | a0001c0047t0001g0212 | 1 | 246 | 0.0041 | -10 | c.242 others(27): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1153076 | GGCCCCGC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp2 | a0034 | a0034c0087 | a0034c0087t0003 | a0034c0087t0003g0072 | 1 | 338 | 0.0030 | -10 | c.-41 others(19): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 29 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1189397 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 338 | 0.0030 | -10 | c.300 others(27): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39686627 | CATATATA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0067 | 1 | 236 | 0.0042 | -10 | c.*23 others(19): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 239 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01952.hp1 others(23): Show |
a0001a0015a0016others(5): Show | a0001c0007a0001c0009a0001c0016others(11): Show | a0001c0007t0001a0001c0007t0002a0001c0009t0001others(13): Show | a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 others(22): Show |
26 | 314 | 0.0828 | -10 | c.*40 others(21): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201068231 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0144 | 1 | 314 | 0.0032 | -10 | c.255 others(27): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81955972 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 144 | 0.0069 | -10 | c.315 others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81955974 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG02080.hp1 HG02922.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0022 | a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 others(7): Show |
10 | 144 | 0.0694 | -10 | c.315 others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81955976 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0013 a0001c0001t0016g0019 |
2 | 144 | 0.0139 | -10 | c.315 others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar |