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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAB39_chr2_230707842_230826075 | 230808051 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00597.hp1 others(148): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0026a0001c0001t0002g0306a0001c0001t0003g0180others(148): Show | 151 | 342 | 0.4415 | -5 | c.568 others(22): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230813978 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0013others(7): Show | a0001c0001t0005g0119a0001c0001t0005g0128a0001c0001t0005g0131others(26): Show | 29 | 342 | 0.0848 | -5 | c.628 others(18): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61667028 | AATTAT | A | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0277a0001c0001t0003g0267a0001c0001t0003g0268others(2): Show | 5 | 374 | 0.0134 | -5 | c.60+ others(20): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61680375 | TATAAC | T | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02630.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0299a0001c0001t0003g0292a0001c0001t0003g0293others(9): Show | 12 | 374 | 0.0321 | -5 | c.165 others(20): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24082085 | CTTTTT | C | intron_variant | MODIFIER | HG02129.hp2 HG02155.hp2 NA18973.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0165a0002c0002t0001g0173a0002c0002t0001g0175others(3): Show | 6 | 268 | 0.0224 | -5 | c.274 others(24): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23132938 | AAAAAC | A | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01433.hp2 HG02683.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0274a0001c0001t0001g0276a0001c0001t0002g0175others(5): Show | 8 | 278 | 0.0288 | -5 | c.-28 others(16): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2546 | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23181496 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00738.hp2 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0012others(39): Show | 42 | 278 | 0.1511 | -5 | c.846 others(22): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23248534 | TTTTTA | T | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01256.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0045a0001c0001t0001g0048others(9): Show | 12 | 278 | 0.0432 | -5 | c.144 others(24): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 7/9 | chr18 | TogoVar | ||||||
CABP4_chr11_67450354_67466752 | 67458275 | TAAATA | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0023a0001c0001t0027others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0023g0005others(6): Show | 49 | 368 | 0.1332 | -5 | c.652 others(18): Show |
CABP4 | ENSG00000175544.14 | transcript | ENST00000325656.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CABP5_chr19_48024383_48049079 | 48037259 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00673.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0009others(9): Show | a0001c0001t0001g0143a0001c0002t0004g0003a0001c0002t0004g0013others(28): Show | 43 | 376 | 0.1144 | -5 | c.348 others(22): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
CABYR_chr18_24134062_24166600 | 24150771 | TTTTTG | T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0018a0001c0047 | a0001c0018t0001a0001c0047t0001 | a0001c0018t0001g0036a0001c0018t0001g0168a0001c0018t0001g0169others(1): Show | 5 | 408 | 0.0123 | -5 | c.200 others(22): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABYR_chr18_24134062_24166600 | 24161271 | ATTATC | A | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG03017.hp1 others(2): Show |
a0001 | a0001c0025a0001c0035a0001c0040others(1): Show | a0001c0025t0001a0001c0035t0001a0001c0040t0001others(1): Show | a0001c0025t0001g0051a0001c0025t0001g0054a0001c0035t0001g0057others(2): Show | 5 | 408 | 0.0123 | -5 | c.114 others(22): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64500735 | AGAGAG | A | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0015a0001c0001t0016g0014 | 2 | 166 | 0.0121 | -5 | c.198 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64505847 | TCGCCC | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01167.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0118others(15): Show | 18 | 166 | 0.1084 | -5 | c.198 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64590659 | GGTTTT | G | intron_variant | MODIFIER | HG01433.hp2 HG02257.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0004t0012 | a0001c0001t0001g0021a0001c0001t0001g0073a0001c0001t0001g0081others(6): Show | 9 | 166 | 0.0542 | -5 | c.410 others(22): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64643036 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0022a0001c0001t0001g0039a0001c0001t0001g0047others(45): Show | 48 | 166 | 0.2892 | -5 | c.115 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64669081 | GATTAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00621.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0018a0001c0002t0001g0023a0001c0002t0001g0031others(14): Show | 17 | 166 | 0.1024 | -5 | c.238 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13206944 | GTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG01978.hp2 HG02559.hp1 others(7): Show |
a0001a0003a0004others(4): Show | a0001c0005a0001c0072a0003c0035others(7): Show | a0001c0005t0010a0001c0072t0037a0003c0035t0016others(7): Show | a0001c0005t0010g0202a0001c0072t0037g0213a0003c0035t0016g0076others(7): Show | 10 | 218 | 0.0459 | -5 | c.*36 others(14): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 364 | chr19 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13245666 | TTTCTC | T | intron_variant | MODIFIER | HG01169.hp1 HG02615.hp2 HG02895.hp2 others(2): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0005a0003c0110others(2): Show | a0001c0001t0001a0001c0005t0005a0003c0110t0006others(2): Show | a0001c0001t0001g0193a0001c0005t0005g0028a0003c0110t0006g0137others(2): Show | 5 | 218 | 0.0229 | -5 | c.486 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13271214 | GTTTTT | G | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01081.hp1 others(59): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0005others(40): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(48): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(59): Show | 62 | 218 | 0.2844 | -5 | c.398 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13294487 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01256.hp1 others(21): Show |
a0001a0002a0008others(9): Show | a0001c0005a0002c0002a0002c0003others(14): Show | a0001c0005t0001a0002c0002t0002a0002c0003t0002others(16): Show | a0001c0005t0001g0187a0002c0002t0002g0095a0002c0003t0002g0053others(21): Show | 24 | 218 | 0.1101 | -5 | c.308 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13310454 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01975.hp2 HG01993.hp1 others(4): Show |
a0001a0002a0003 | a0001c0018a0001c0049a0002c0002others(3): Show | a0001c0018t0001a0001c0049t0001a0002c0002t0003others(3): Show | a0001c0018t0001g0037a0001c0018t0001g0056a0001c0049t0001g0012others(4): Show | 7 | 218 | 0.0321 | -5 | c.166 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13315196 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00609.hp1 others(45): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0005others(32): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(39): Show | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0005g0168others(45): Show | 48 | 218 | 0.2202 | -5 | c.155 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13324318 | TATTGC | T | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02293.hp1 others(29): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0005others(22): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0004others(28): Show | a0001c0001t0001g0182a0001c0004t0001g0078a0001c0005t0004g0201others(29): Show | 32 | 218 | 0.1468 | -5 | c.134 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13344731 | ATTTAT | A | intron_variant | MODIFIER | HG03130.hp1 NA20129.hp1 NA20129.hp2 others(1): Show |
a0002a0007a0016 | a0002c0002a0007c0009a0016c0028 | a0002c0002t0015a0007c0009t0038a0016c0028t0007 | a0002c0002t0015g0160a0007c0009t0038g0153a0016c0028t0007g0073others(1): Show | 4 | 218 | 0.0184 | -5 | c.979 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13345895 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(132): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0004a0001c0005others(81): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(107): Show | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0050others(132): Show | 135 | 218 | 0.6193 | -5 | c.979 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13367294 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01975.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0004t0015a0001c0005t0001others(9): Show | a0001c0001t0001g0030a0001c0001t0001g0115a0001c0004t0015g0140others(11): Show | 14 | 218 | 0.0642 | -5 | c.632 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13388245 | CTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG01952.hp1 others(28): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0026others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0001g0019a0001c0001t0004g0013a0001c0001t0004g0218others(28): Show | 31 | 218 | 0.1422 | -5 | c.540 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | TAAAAA | T | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01099.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0005a0002c0030others(8): Show | a0001c0004t0032a0001c0005t0005a0002c0030t0002others(9): Show | a0001c0004t0032g0081a0001c0005t0005g0135a0002c0030t0002g0158others(9): Show | 12 | 218 | 0.0551 | -5 | c.539 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13448082 | GAAAAA | G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02572.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0005t0005a0001c0006t0029others(11): Show | a0001c0001t0001g0030a0001c0005t0005g0135a0001c0006t0029g0136others(11): Show | 14 | 218 | 0.0642 | -5 | c.539 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13450139 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02723.hp1 others(2): Show |
a0001a0015 | a0001c0001a0001c0006a0015c0021 | a0001c0001t0001a0001c0006t0005a0001c0006t0008others(2): Show | a0001c0001t0001g0025a0001c0006t0005g0110a0001c0006t0008g0217others(2): Show | 5 | 218 | 0.0229 | -5 | c.539 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13461340 | AAAAAC | A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02572.hp1 others(7): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0005t0005a0001c0006t0029others(7): Show | a0001c0001t0001g0030a0001c0005t0005g0135a0001c0006t0029g0136others(7): Show | 10 | 218 | 0.0459 | -5 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13464543 | ATTTTT | A | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01167.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0020others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0020t0001others(4): Show | a0001c0001t0001g0193a0001c0001t0001g0194a0001c0004t0001g0080others(5): Show | 8 | 218 | 0.0367 | -5 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13488989 | ATTTCT | A | intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 HG03516.hp2 |
a0001a0003 | a0001c0031a0001c0071a0003c0035 | a0001c0031t0013a0001c0071t0013a0003c0035t0024 | a0001c0031t0013g0123a0001c0071t0013g0138a0003c0035t0024g0005 | 3 | 218 | 0.0138 | -5 | c.293 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497522 | ATATAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG02698.hp1 others(1): Show |
a0002a0009a0012 | a0002c0002a0002c0050a0009c0014others(1): Show | a0002c0002t0002a0002c0050t0002a0009c0014t0002others(1): Show | a0002c0002t0002g0094a0002c0050t0002g0088a0009c0014t0002g0048others(1): Show | 4 | 218 | 0.0184 | -5 | c.293 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13502157 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(65): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0005others(53): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(60): Show | a0001c0001t0001g0182a0001c0001t0001g0193a0001c0001t0001g0194others(65): Show | 68 | 218 | 0.3119 | -5 | c.293 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138019639 | GCCGCC | G | intron_variant | MODIFIER | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
a0008 | a0008c0019 | a0008c0019t0017a0008c0019t0025 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | 248 | 0.0121 | -5 | c.226 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138088959 | CAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02615.hp1 others(4): Show |
a0001a0009a0022 | a0001c0002a0001c0005a0001c0051others(2): Show | a0001c0002t0004a0001c0005t0004a0001c0051t0007others(2): Show | a0001c0002t0004g0073a0001c0005t0004g0007a0001c0005t0004g0098others(4): Show | 7 | 248 | 0.0282 | -5 | c.509 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2204950 | ATTAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01106.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0015others(17): Show | a0001c0001t0002g0096a0001c0001t0013g0014a0001c0001t0015g0030others(22): Show | 25 | 104 | 0.2404 | -5 | c.477 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2328397 | CTTTTA | C | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01496.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0003g0063a0001c0001t0004g0005a0001c0001t0004g0038others(31): Show | 34 | 104 | 0.3269 | -5 | c.478 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2357970 | CAAAAA | C | intron_variant | MODIFIER | HG02040.hp1 HG02145.hp1 HG03139.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0013 | a0001c0003t0002a0001c0003t0037a0001c0006t0001others(1): Show | a0001c0003t0002g0045a0001c0003t0037g0003a0001c0006t0001g0102others(1): Show | 4 | 104 | 0.0385 | -5 | c.478 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2365692 | TTTTAA | T | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0022a0001c0002t0001a0001c0003t0010others(2): Show | a0001c0001t0022g0058a0001c0002t0001g0036a0001c0002t0001g0043others(3): Show | 6 | 104 | 0.0577 | -5 | c.478 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2450091 | CATAAG | C | intron_variant | MODIFIER | HG01496.hp2 HG03486.hp2 NA18906.hp2 |
a0001a0003 | a0001c0025a0001c0036a0003c0027 | a0001c0025t0007a0001c0036t0007a0003c0027t0011 | a0001c0025t0007g0012a0001c0036t0007g0100a0003c0027t0011g0013 | 3 | 104 | 0.0289 | -5 | c.617 others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2569317 | TAATTC | T | intron_variant | MODIFIER | HG01496.hp1 HG01993.hp1 HG02273.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(12): Show | a0001c0001t0004g0005a0001c0001t0004g0038a0001c0001t0005g0015others(16): Show | 19 | 104 | 0.1827 | -5 | c.189 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2603778 | CAAAAG | C | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0024a0001c0025 | a0001c0024t0003a0001c0025t0007 | a0001c0024t0003g0067a0001c0025t0007g0012 | 2 | 104 | 0.0192 | -5 | c.296 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2646268 | GGTTTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0037a0001c0004t0004a0001c0004t0023 | a0001c0003t0037g0003a0001c0004t0004g0084a0001c0004t0004g0086others(1): Show | 4 | 104 | 0.0385 | -5 | c.391 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2662268 | TAAATC | T | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01496.hp2 others(9): Show |
a0001a0003 | a0001c0004a0001c0007a0001c0011others(4): Show | a0001c0004t0004a0001c0004t0010a0001c0004t0023others(8): Show | a0001c0004t0004g0084a0001c0004t0004g0086a0001c0004t0010g0020others(9): Show | 12 | 104 | 0.1154 | -5 | c.423 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53651366 | CTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0002t0013others(1): Show | a0001c0001t0003g0113a0001c0001t0014g0031a0001c0002t0013g0021others(2): Show | 5 | 210 | 0.0238 | -5 | c.623 others(20): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 4/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53691815 | ATATAT | A | intron_variant | MODIFIER | NA18962.hp1 NA18962.hp2 NA18982.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0005 | a0001c0001t0012g0181a0001c0002t0005g0071a0001c0002t0005g0103others(2): Show | 5 | 210 | 0.0238 | -5 | c.122 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53691901 | ATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(60): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0015a0001c0001t0001g0136a0001c0001t0001g0142others(60): Show | 63 | 210 | 0.3000 | -5 | c.122 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |