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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABLES1_chr18_23130485_23265470 | 23184308 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 278 | 0.0036 | -12 | c.846 others(29): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23191906 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01515.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0001g0274 a0001c0001t0004g0238 a0001c0001t0014g0275 others(3): Show |
6 | 278 | 0.0216 | -12 | c.918 others(29): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62385102 | TCAAACAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0213 | 1 | 400 | 0.0025 | -12 | c.*58 others(23): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 3531 | chr20 | TogoVar | |||||||
CABP1_chr12_120635626_120672324 | 120639250 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 418 | 0.0024 | -12 | c.-14 others(23): Show |
CABP1 | ENSG00000157782.10 | transcript | ENST00000316803.8 | protein_coding | 1375 | chr12 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48029794 | CAGACAGA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02647.hp2 |
a0006 | a0006c0011 | a0006c0011t0035 | a0006c0011t0035g0037 | 2 | 376 | 0.0053 | -12 | c.*75 others(21): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 751 | chr19 | TogoVar | ||||||
CABYR_chr18_24134062_24166600 | 24161072 | GGAAAACA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG02895.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0005c0005t0001 | a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 others(3): Show |
6 | 408 | 0.0147 | -12 | c.114 others(29): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133470189 | CTGTGTGT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01255.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0018a0001c0001t0019others(4): Show | a0001c0001t0012g0001 a0001c0001t0012g0024 a0001c0001t0012g0099 others(7): Show |
17 | 420 | 0.0405 | -12 | c.*15 others(23): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 5/5 | 1562 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64477584 | GATTATTA others(5): Show |
G | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0152 | 1 | 166 | 0.0060 | -12 | c.198 others(29): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64640741 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(157): Show |
160 | 166 | 0.9639 | -12 | c.100 others(31): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64643036 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0115 | 1 | 166 | 0.0060 | -12 | c.115 others(31): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64675993 | TTAATAAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01175.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0001g0022 a0001c0001t0008g0010 a0001c0002t0001g0018 others(8): Show |
11 | 166 | 0.0663 | -12 | c.297 others(27): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG02647.hp2 | a0035 | a0035c0099 | a0035c0099t0005 | a0035c0099t0005g0059 | 1 | 218 | 0.0046 | -12 | c.696 others(21): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6964/7521 | 2322/2506 | chr19 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13208180 | GGGAGGAG others(5): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03834.hp1 HG03942.hp1 |
a0004 | a0004c0007 | a0004c0007t0001a0004c0007t0004 | a0004c0007t0001g0049 a0004c0007t0001g0114 a0004c0007t0004g0105 |
3 | 218 | 0.0138 | -12 | c.678 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 46/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13216647 | TTATCTAT others(5): Show |
T | intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0166 | 1 | 218 | 0.0046 | -12 | c.573 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13255771 | CCCTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01070.hp1 others(20): Show |
a0001a0002a0003others(8): Show | a0001c0017a0001c0025a0001c0127others(15): Show | a0001c0017t0001a0001c0025t0031a0001c0127t0001others(18): Show | a0001c0017t0001g0037 a0001c0017t0001g0056 a0001c0025t0031g0104 others(20): Show |
23 | 218 | 0.1055 | -12 | c.459 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13259331 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 NA19084.hp1 |
a0001a0005 | a0001c0006a0001c0032a0005c0023 | a0001c0006t0008a0001c0032t0001a0005c0023t0006 | a0001c0006t0008g0217 a0001c0032t0001g0072 a0005c0023t0006g0117 |
3 | 218 | 0.0138 | -12 | c.438 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 27/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13293439 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0017 | a0017c0078 | a0017c0078t0019 | a0017c0078t0019g0151 | 1 | 218 | 0.0046 | -12 | c.308 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310454 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01978.hp2 HG01993.hp2 others(8): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0004a0004c0080others(6): Show | a0001c0001t0001a0002c0004t0003a0004c0080t0009others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0002c0004t0003g0177 others(8): Show |
11 | 218 | 0.0505 | -12 | c.166 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310479 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00609.hp2 others(16): Show |
a0001a0005a0006others(7): Show | a0001c0006a0001c0025a0001c0127others(15): Show | a0001c0006t0009a0001c0025t0001a0001c0127t0001others(15): Show | a0001c0006t0009g0189 a0001c0025t0001g0144 a0001c0127t0001g0174 others(16): Show |
19 | 218 | 0.0872 | -12 | c.166 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310483 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01934.hp2 NA19065.hp2 |
a0001a0003a0008 | a0001c0001a0003c0121a0008c0011 | a0001c0001t0004a0003c0121t0045a0008c0011t0002 | a0001c0001t0004g0155 a0003c0121t0045g0111 a0008c0011t0002g0133 |
3 | 218 | 0.0138 | -12 | c.166 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03471.hp1 NA20300.hp2 |
a0001a0002a0010 | a0001c0015a0002c0103a0010c0105 | a0001c0015t0004a0002c0103t0006a0010c0105t0004 | a0001c0015t0004g0047 a0002c0103t0006g0150 a0010c0105t0004g0200 |
3 | 218 | 0.0138 | -12 | c.979 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13343116 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA18906.hp1 |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0010 | a0001c0005t0004g0201 a0001c0005t0010g0202 |
2 | 218 | 0.0092 | -12 | c.979 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346616 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0055 | a0001c0055t0004 | a0001c0055t0004g0083 | 1 | 218 | 0.0046 | -12 | c.979 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346656 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02976.hp1 |
a0016a0020 | a0016c0132a0020c0020 | a0016c0132t0001a0020c0020t0004 | a0016c0132t0001g0007 a0020c0020t0004g0044 |
2 | 218 | 0.0092 | -12 | c.979 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13360259 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0006 | a0006c0009 | a0006c0009t0038 | a0006c0009t0038g0153 | 1 | 218 | 0.0046 | -12 | c.785 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13360261 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01070.hp1 others(50): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0005others(35): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(41): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(50): Show |
53 | 218 | 0.2431 | -12 | c.785 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13378645 | CATTTATT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0005a0001c0006a0001c0029others(1): Show | a0001c0005t0047a0001c0006t0008a0001c0029t0013others(1): Show | a0001c0005t0047g0024 a0001c0006t0008g0148 a0001c0029t0013g0123 others(1): Show |
4 | 218 | 0.0184 | -12 | c.540 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13380741 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0131 | a0001c0131t0022 | a0001c0131t0022g0006 | 1 | 218 | 0.0046 | -12 | c.540 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13380745 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01975.hp2 others(19): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0003t0015a0001c0005t0001others(16): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0115 others(19): Show |
22 | 218 | 0.1009 | -12 | c.540 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13402871 | CACATATA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG02055.hp2 others(4): Show |
a0001a0003a0004others(4): Show | a0001c0125a0003c0013a0004c0007others(4): Show | a0001c0125t0004a0003c0013t0027a0004c0007t0010others(4): Show | a0001c0125t0004g0014 a0003c0013t0027g0149 a0004c0007t0010g0062 others(4): Show |
7 | 218 | 0.0321 | -12 | c.540 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13402873 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02486.hp1 HG02630.hp2 others(3): Show |
a0001a0012a0016 | a0001c0006a0001c0055a0001c0101others(3): Show | a0001c0006t0008a0001c0055t0004a0001c0101t0012others(3): Show | a0001c0006t0008g0148 a0001c0055t0004g0083 a0001c0101t0012g0029 others(3): Show |
6 | 218 | 0.0275 | -12 | c.540 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13406465 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp2 NA18979.hp2 |
a0001a0014 | a0001c0003a0014c0116 | a0001c0003t0015a0014c0116t0004 | a0001c0003t0015g0140 a0014c0116t0004g0210 |
2 | 218 | 0.0092 | -12 | c.540 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13410533 | CTTTTTTC others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02280.hp2 others(13): Show |
a0001a0003a0004others(5): Show | a0001c0029a0001c0036a0001c0055others(12): Show | a0001c0029t0036a0001c0036t0007a0001c0055t0004others(13): Show | a0001c0029t0036g0215 a0001c0036t0007g0205 a0001c0055t0004g0083 others(13): Show |
16 | 218 | 0.0734 | -12 | c.540 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13413895 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0054 | a0003c0054t0003 | a0003c0054t0003g0057 | 1 | 218 | 0.0046 | -12 | c.539 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13432416 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA18944.hp2 NA18998.hp1 |
a0022a0047 | a0022c0091a0047c0090 | a0022c0091t0001a0047c0090t0001 | a0022c0091t0001g0179 a0047c0090t0001g0118 |
2 | 218 | 0.0092 | -12 | c.539 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13490692 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(33): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0005others(28): Show | a0001c0001t0004a0001c0003t0015a0001c0005t0005others(31): Show | a0001c0001t0004g0218 a0001c0003t0015g0140 a0001c0005t0005g0135 others(33): Show |
36 | 218 | 0.1651 | -12 | c.293 others(31): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13496079 | TCCATCCA others(5): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02055.hp2 others(18): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0005a0001c0015others(18): Show | a0001c0003t0001a0001c0005t0008a0001c0015t0004others(18): Show | a0001c0003t0001g0078 a0001c0005t0008g0204 a0001c0015t0004g0074 others(18): Show |
21 | 218 | 0.0963 | -12 | c.293 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497519 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0084 | a0003c0084t0016 | a0003c0084t0016g0145 | 1 | 218 | 0.0046 | -12 | c.293 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497521 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG01884.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0032a0001c0006t0005others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0003t0032g0081 others(6): Show |
9 | 218 | 0.0413 | -12 | c.293 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137939839 | TAAATAAA others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp1 HG02486.hp1 others(3): Show |
a0001a0005a0008 | a0001c0023a0005c0014a0005c0026others(1): Show | a0001c0023t0003a0005c0014t0006a0005c0026t0006others(2): Show | a0001c0023t0003g0049 a0005c0014t0006g0140 a0005c0026t0006g0144 others(3): Show |
6 | 248 | 0.0242 | -12 | c.967 others(31): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138002780 | CTTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
a0004 | a0004c0025a0004c0029a0004c0059 | a0004c0025t0013a0004c0025t0022a0004c0029t0036others(1): Show | a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0029t0036g0206 others(1): Show |
4 | 248 | 0.0161 | -12 | c.197 others(31): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138041487 | ATAGCCTT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(150): Show |
a0001a0002a0004others(13): Show | a0001c0002a0001c0003a0001c0004others(44): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(74): Show | a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(150): Show |
153 | 248 | 0.6169 | -12 | c.328 others(31): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138051452 | TCTCCCTC others(5): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0023 | 1 | 248 | 0.0040 | -12 | c.371 others(29): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138102622 | ACCCCGCT others(5): Show |
A | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0098 | 1 | 248 | 0.0040 | -12 | c.522 others(27): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138129077 | GGGGTTAG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(85): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0011others(32): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0013others(46): Show | a0001c0002t0002g0046 a0001c0002t0008g0026 a0001c0002t0008g0053 others(85): Show |
88 | 248 | 0.3548 | -12 | c.*70 others(23): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4459 | chr9 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2056196 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01993.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0003a0001c0001t0021a0001c0001t0022others(15): Show | a0001c0001t0003g0063 a0001c0001t0021g0055 a0001c0001t0022g0058 others(18): Show |
21 | 104 | 0.2019 | -12 | c.49+ others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2124109 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03195.hp2 HG03486.hp2 |
a0001 | a0001c0024a0001c0037 | a0001c0024t0003a0001c0037t0007 | a0001c0024t0003g0067 a0001c0037t0007g0100 |
2 | 104 | 0.0192 | -12 | 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 | 2177587 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 HG03516.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0025others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0037others(2): Show | a0001c0001t0001g0029 a0001c0001t0004g0008 a0001c0003t0037g0003 others(2): Show |
5 | 104 | 0.0481 | -12 | 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(5): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0010 | 1 | 104 | 0.0096 | -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 | 2277358 | GACAGACA others(5): Show |
G | intron_variant | MODIFIER | HG02273.hp2 HG02965.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0044a0001c0004t0004 | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0043 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 |