| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CACNA1A_chr19_13201442_13511479 | 13380749 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp1 HG02258.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0006a0002c0010a0003c0035others(9): Show | a0001c0006t0029a0002c0010t0003a0003c0035t0016others(10): Show | a0001c0006t0029g0136a0002c0010t0003g0023a0003c0035t0016g0076others(10): Show | 13 | 218 | 0.0596 | -8 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13393683 | TTCCTTTT others(1): Show |
T | intron_variant | MODIFIER | HG02129.hp1 HG03688.hp1 HG03942.hp1 others(2): Show |
a0001a0004a0007 | a0001c0034a0001c0098a0004c0007others(2): Show | a0001c0034t0001a0001c0098t0001a0004c0007t0004others(2): Show | a0001c0034t0001g0068a0001c0098t0001g0112a0004c0007t0004g0105others(2): Show | 5 | 218 | 0.0229 | -8 | c.540 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13393809 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG03688.hp1 HG03942.hp1 others(2): Show |
a0001a0004a0007 | a0001c0034a0001c0098a0004c0007others(2): Show | a0001c0034t0001a0001c0098t0001a0004c0007t0004others(2): Show | a0001c0034t0001g0068a0001c0098t0001g0112a0004c0007t0004g0105others(2): Show | 5 | 218 | 0.0229 | -8 | c.540 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13402871 | CACATATA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 |
a0001a0018 | a0001c0006a0018c0017 | a0001c0006t0005a0018c0017t0014 | a0001c0006t0005g0110a0018c0017t0014g0212 | 2 | 218 | 0.0092 | -8 | c.540 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13402873 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02622.hp2 others(3): Show |
a0001a0020 | a0001c0020a0001c0034a0001c0037others(3): Show | a0001c0020t0001a0001c0034t0001a0001c0037t0004others(3): Show | a0001c0020t0001g0051a0001c0034t0001g0072a0001c0037t0004g0021others(3): Show | 6 | 218 | 0.0275 | -8 | c.540 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13406465 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp2 HG03831.hp1 others(2): Show |
a0002a0005a0008others(2): Show | a0002c0082a0005c0033a0008c0008others(2): Show | a0002c0082t0003a0005c0033t0011a0008c0008t0002others(2): Show | a0002c0082t0003g0058a0005c0033t0011g0010a0008c0008t0002g0065others(2): Show | 5 | 218 | 0.0229 | -8 | c.540 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13410540 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01109.hp2 others(30): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0005others(25): Show | a0001c0001t0004a0001c0004t0001a0001c0004t0015others(28): Show | a0001c0001t0004g0155a0001c0004t0001g0078a0001c0004t0015g0140others(30): Show | 33 | 218 | 0.1514 | -8 | c.540 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13413895 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(24): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0004a0001c0006others(18): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0008others(20): Show | a0001c0001t0001g0019a0001c0001t0001g0128a0001c0004t0001g0080others(24): Show | 27 | 218 | 0.1239 | -8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13427453 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG03225.hp2 others(1): Show |
a0001a0017 | a0001c0016a0001c0071a0017c0127 | a0001c0016t0004a0001c0071t0013a0017c0127t0001 | a0001c0016t0004g0047a0001c0016t0004g0074a0001c0071t0013g0138others(1): Show | 4 | 218 | 0.0184 | -8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13427774 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02486.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0029others(11): Show | a0001c0001t0001g0030a0001c0004t0001g0078a0001c0006t0029g0136others(11): Show | 14 | 218 | 0.0642 | -8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13429167 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01081.hp1 others(13): Show |
a0001a0002a0005others(6): Show | a0001c0004a0001c0005a0002c0030others(10): Show | a0001c0004t0001a0001c0004t0032a0001c0005t0005others(12): Show | a0001c0004t0001g0078a0001c0004t0032g0081a0001c0005t0005g0135others(13): Show | 16 | 218 | 0.0734 | -8 | c.539 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13482848 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02258.hp2 HG02451.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0002c0002others(4): Show | a0001c0005t0004a0001c0005t0010a0001c0006t0008others(6): Show | a0001c0005t0004g0201a0001c0005t0010g0202a0001c0006t0008g0148others(6): Show | 9 | 218 | 0.0413 | -8 | c.293 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13490692 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01081.hp1 others(21): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0005others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0032others(19): Show | a0001c0001t0001g0050a0001c0004t0001g0078a0001c0004t0001g0199others(21): Show | 24 | 218 | 0.1101 | -8 | c.293 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13496043 | ACCATCCA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01516.hp2 others(6): Show |
a0001a0002a0006others(4): Show | a0001c0004a0001c0016a0002c0030others(6): Show | a0001c0004t0011a0001c0016t0004a0002c0030t0002others(6): Show | a0001c0004t0011g0157a0001c0016t0004g0047a0002c0030t0002g0158others(6): Show | 9 | 218 | 0.0413 | -8 | c.293 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13497521 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG03942.hp1 others(3): Show |
a0002a0003a0004others(3): Show | a0002c0010a0003c0015a0004c0007others(3): Show | a0002c0010t0002a0003c0015t0035a0004c0007t0004others(3): Show | a0002c0010t0002g0054a0003c0015t0035g0119a0004c0007t0004g0105others(3): Show | 6 | 218 | 0.0275 | -8 | c.293 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 137939843 | TAAATAAA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(89): Show |
a0001a0002a0005others(5): Show | a0001c0002a0001c0003a0001c0007others(18): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(42): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(89): Show | 92 | 248 | 0.3710 | -8 | c.967 others(27): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1B_chr9_137872782_138129619 | 138088959 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03579.hp1 NA18947.hp2 others(3): Show |
a0001 | a0001c0002a0001c0017 | a0001c0002t0001a0001c0017t0006a0001c0017t0016 | a0001c0002t0001g0039a0001c0002t0001g0061a0001c0002t0001g0212others(3): Show | 6 | 248 | 0.0242 | -8 | c.509 others(27): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1B_chr9_137872782_138129619 | 138123560 | ATGTGTGT others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(20): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0001c0013others(8): Show | a0001c0002t0005a0001c0002t0011a0001c0003t0005others(11): Show | a0001c0002t0005g0024a0001c0002t0011g0052a0001c0003t0005g0006others(20): Show | 23 | 248 | 0.0927 | -8 | c.*15 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1583 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
| CACNA1C_chr12_2047987_2702950 | 2052893 | CCGGGCGG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp2 NA21309.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0037a0001c0012t0007 | a0001c0003t0037g0003a0001c0012t0007g0046 | 2 | 104 | 0.0192 | -8 | c.-66 others(17): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 93 | chr12 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2071140 | TCCTCCCT others(1): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 |
a0001a0002 | a0001c0003a0002c0040 | a0001c0003t0044a0002c0040t0016 | a0001c0003t0044g0053a0002c0040t0016g0073 | 2 | 104 | 0.0192 | -8 | 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(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01993.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0002g0049a0001c0001t0002g0096a0001c0002t0001g0016others(9): Show | 12 | 104 | 0.1154 | -8 | c.477 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2177583 | CCCTCCCT others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0003a0001c0022 | a0001c0001t0005a0001c0003t0040a0001c0022t0014 | a0001c0001t0005g0042a0001c0003t0040g0011a0001c0022t0014g0050 | 3 | 104 | 0.0289 | -8 | 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 | 2177587 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG01891.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0045a0001c0003t0044others(10): Show | a0001c0001t0004g0104a0001c0001t0045g0052a0001c0003t0044g0053others(10): Show | 13 | 104 | 0.1250 | -8 | 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 | 2177634 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG03239.hp1 HG03516.hp1 HG04115.hp2 |
a0001 | a0001c0006a0001c0010a0001c0026 | a0001c0006t0003a0001c0010t0008a0001c0026t0003 | a0001c0006t0003g0069a0001c0010t0008g0064a0001c0026t0003g0066 | 3 | 104 | 0.0289 | -8 | 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 | 2226125 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp2 HG01106.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0002g0049a0001c0001t0004g0005a0001c0001t0004g0038others(32): Show | 35 | 104 | 0.3365 | -8 | 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 | 2277358 | GACAGACA others(1): Show |
G | intron_variant | MODIFIER | HG01993.hp2 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0045a0001c0002t0001others(7): Show | a0001c0001t0001g0088a0001c0001t0045g0052a0001c0002t0001g0093others(7): Show | 10 | 104 | 0.0962 | -8 | 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 | 2277362 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG03516.hp1 |
a0001a0003 | a0001c0001a0001c0026a0003c0023 | a0001c0001t0017a0001c0026t0003a0003c0023t0011 | a0001c0001t0017g0004a0001c0026t0003g0066a0003c0023t0011g0048 | 3 | 104 | 0.0289 | -8 | 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 | 2358251 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01496.hp1 HG02273.hp2 others(11): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(11): Show | a0001c0001t0001g0088a0001c0001t0002g0049a0001c0001t0024g0080others(11): Show | 14 | 104 | 0.1346 | -8 | c.478 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2387486 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG02145.hp2 HG02257.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0005a0001c0001t0045a0001c0002t0003others(4): Show | a0001c0001t0005g0042a0001c0001t0045g0052a0001c0002t0003g0065others(4): Show | 7 | 104 | 0.0673 | -8 | c.478 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2535704 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0029others(7): Show | a0001c0001t0001g0029a0001c0001t0005g0042a0001c0002t0029g0037others(7): Show | 10 | 104 | 0.0962 | -8 | c.139 others(29): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2602630 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02280.hp2 HG02647.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0018others(4): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0017others(6): Show | a0001c0001t0002g0001a0001c0001t0015g0034a0001c0001t0017g0004others(7): Show | 10 | 104 | 0.0962 | -8 | c.296 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53538140 | AGTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0130a0001c0001t0021g0131 | 2 | 210 | 0.0095 | -8 | c.483 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | chr3 | TogoVar | ||||||
| CACNA1D_chr3_53489611_53818733 | 53538141 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0022a0001c0001t0041others(15): Show | a0001c0001t0002g0062a0001c0001t0002g0099a0001c0001t0022g0056others(22): Show | 25 | 210 | 0.1191 | -8 | c.483 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53555456 | GTGTGTTT others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0071a0001c0001t0074a0001c0002t0009others(8): Show | a0001c0001t0071g0034a0001c0001t0074g0004a0001c0002t0009g0210others(9): Show | 12 | 210 | 0.0571 | -8 | c.483 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53572357 | GGTTTGTT others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01175.hp2 HG01361.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0006a0001c0002t0083others(4): Show | a0001c0001t0002g0061a0001c0002t0006g0180a0001c0002t0083g0209others(4): Show | 7 | 210 | 0.0333 | -8 | c.483 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53572374 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0017a0001c0002t0010a0001c0002t0015others(3): Show | a0001c0001t0017g0110a0001c0002t0010g0190a0001c0002t0015g0117others(3): Show | 6 | 210 | 0.0286 | -8 | c.483 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53672758 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01109.hp2 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0022others(8): Show | a0001c0001t0002g0062a0001c0001t0003g0084a0001c0001t0003g0128others(10): Show | 13 | 210 | 0.0619 | -8 | c.111 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53672812 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0023 | a0001c0001t0003a0001c0001t0014a0001c0002t0013others(1): Show | a0001c0001t0003g0113a0001c0001t0014g0031a0001c0002t0013g0021others(1): Show | 4 | 210 | 0.0191 | -8 | c.111 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53682365 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(10): Show | a0001c0001t0001g0136a0001c0001t0001g0156a0001c0001t0002g0091others(12): Show | 15 | 210 | 0.0714 | -8 | c.122 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53713494 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp1 HG02683.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0045a0001c0003t0003 | a0001c0001t0004g0160a0001c0001t0045g0063a0001c0003t0003g0074 | 3 | 210 | 0.0143 | -8 | c.139 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53733993 | CATATACA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02809.hp1 HG03225.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0032a0001c0001t0072a0001c0002t0015others(4): Show | a0001c0001t0032g0012a0001c0001t0032g0206a0001c0001t0072g0007others(5): Show | 8 | 210 | 0.0381 | -8 | c.268 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 20/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53734016 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(49): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0016others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0175a0001c0002t0006g0011others(49): Show | 52 | 210 | 0.2476 | -8 | c.268 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 20/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53747781 | CCATTCAT others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02040.hp2 HG02109.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0024a0001c0001t0071a0001c0002t0005others(5): Show | a0001c0001t0024g0069a0001c0001t0071g0034a0001c0002t0005g0097others(5): Show | 8 | 210 | 0.0381 | -8 | c.337 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 27/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1D_chr3_53489611_53818733 | 53798320 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02055.hp1 NA18961.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0049a0001c0001t0003g0059a0001c0003t0002g0065 | 3 | 210 | 0.0143 | -8 | c.498 others(27): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA1E_chr1_181478517_181813084 | 181583103 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02040.hp1 HG02132.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0014a0002c0002t0020others(1): Show | a0002c0002t0003g0167a0002c0002t0014g0125a0002c0002t0020g0129others(1): Show | 4 | 206 | 0.0194 | -8 | 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 | 181596557 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01109.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0002g0195a0001c0001t0006g0042a0001c0001t0006g0050others(25): Show | 28 | 206 | 0.1359 | -8 | 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 | 181673222 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0025others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(24): Show | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0005g0086others(51): Show | 54 | 206 | 0.2621 | -8 | c.105 others(29): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CACNA1E_chr1_181478517_181813084 | 181705007 | TAATCCCC others(1): Show |
T | intron_variant | MODIFIER | HG02723.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0070 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | 206 | 0.0097 | -8 | c.105 others(27): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CACNA1E_chr1_181478517_181813084 | 181718611 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01258.hp2 HG02071.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(14): Show | a0001c0001t0003g0130a0001c0001t0010g0028a0001c0001t0013g0187others(16): Show | 19 | 206 | 0.0922 | -8 | c.163 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CACNA1F_chrX_49200063_49238340 | 49235826 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp1 NA19082.hp1 |
a0001a0018 | a0001c0001a0018c0028 | a0001c0001t0001a0018c0028t0001 | a0001c0001t0001g0120a0018c0028t0001g0045 | 2 | 290 | 0.0069 | -8 | c.-25 others(19): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 2487 | chrX | TogoVar |