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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CA5A_chr16_87883013_87941529 | 87926221 | TATAAA | T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02280.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0006a0003c0009 | a0001c0001t0001a0001c0001t0003a0003c0006t0001others(1): Show | a0001c0001t0001g0069 a0001c0001t0001g0379 a0001c0001t0001g0385 others(5): Show |
8 | 310 | 0.0258 | -5 | c.340 others(20): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CA5B_chrX_15733270_15793411 | 15745183 | AAAAAG | A | intron_variant | MODIFIER | HG01071.hp2 HG02074.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0001g0094 a0001c0001t0001g0162 a0001c0001t0012g0255 others(6): Show |
9 | 137 | 0.0657 | -5 | c.-53 others(22): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CA5B_chrX_15733270_15793411 | 15759734 | CTTTTT | C | intron_variant | MODIFIER | HG01257.hp1 HG02451.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0013a0001c0001t0027others(2): Show | a0001c0001t0005g0084 a0001c0001t0013g0251 a0001c0001t0013g0253 others(4): Show |
7 | 12 | 0.5833 | -5 | c.143 others(22): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26847198 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00639.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0040 others(80): Show |
91 | 107 | 0.8505 | -5 | c.740 others(22): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49329545 | ATATAT | A | intron_variant | MODIFIER | HG00408.hp2 NA18965.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 a0001c0002t0002g0182 a0001c0002t0002g0192 others(1): Show |
4 | 188 | 0.0213 | -5 | c.834 others(22): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49413105 | GAAAAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0094 others(91): Show |
95 | 309 | 0.3074 | -5 | c.-32 others(24): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49436553 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0136 others(4): Show |
7 | 40 | 0.1750 | -5 | c.-24 others(24): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230783442 | AGTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG02027.hp2 HG02055.hp2 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0026 a0001c0001t0002g0096 a0001c0001t0003g0180 others(63): Show |
66 | 74 | 0.8919 | -5 | c.115 others(22): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230808051 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00597.hp1 others(147): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0026 a0001c0001t0002g0306 a0001c0001t0003g0180 others(147): Show |
150 | 338 | 0.4438 | -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(25): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0013others(7): Show | a0001c0001t0005g0119 a0001c0001t0005g0131 a0001c0001t0005g0132 others(25): Show |
28 | 65 | 0.4308 | -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 | a0001c0001t0001g0275 a0001c0001t0003g0265 a0001c0001t0003g0266 others(2): Show |
5 | 372 | 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 | a0001c0001t0001g0296 a0001c0001t0003g0289 a0001c0001t0003g0290 others(9): Show |
12 | 372 | 0.0323 | -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 | a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0001g0174 others(3): Show |
6 | 178 | 0.0337 | -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(2): Show | a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0002g0175 others(5): Show |
8 | 267 | 0.0300 | -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(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(39): Show |
42 | 66 | 0.6364 | -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 | a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0051 others(9): Show |
12 | 276 | 0.0435 | -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 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0023g0005 others(6): Show |
49 | 366 | 0.1339 | -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 | a0001c0001t0001a0001c0002t0005a0001c0002t0006others(7): Show | a0001c0001t0001g0227 a0001c0002t0005g0004 a0001c0002t0005g0018 others(28): Show |
43 | 60 | 0.7167 | -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 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0166 a0001c0001t0001g0167 |
5 | 406 | 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 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0053 others(2): Show |
5 | 406 | 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 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0015 a0001c0001t0013g0014 |
2 | 162 | 0.0123 | -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 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0118 others(15): Show |
18 | 150 | 0.1200 | -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 | a0001c0001t0001a0001c0001t0006a0001c0004t0009 | a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0001t0001g0082 others(6): Show |
9 | 156 | 0.0577 | -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(11): Show | a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0047 others(45): Show |
48 | 50 | 0.9600 | -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(3): Show | a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0030 others(14): Show |
17 | 164 | 0.1037 | -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 | a0001c0005t0001a0001c0072t0003a0003c0035t0002others(7): Show | a0001c0005t0001g0202 a0001c0072t0003g0212 a0003c0035t0002g0077 others(7): Show |
10 | 48 | 0.2083 | -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 | a0001c0001t0001a0001c0005t0001a0003c0110t0002others(2): Show | a0001c0001t0001g0181 a0001c0005t0001g0020 a0003c0110t0002g0137 others(2): Show |
5 | 216 | 0.0231 | -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 | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(43): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0038 others(59): Show |
62 | 102 | 0.6078 | -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 |
a0001a0002a0007others(9): Show | a0001c0005a0002c0002a0002c0003others(14): Show | a0001c0005t0001a0002c0002t0002a0002c0003t0002others(14): Show | a0001c0005t0001g0179 a0002c0002t0002g0095 a0002c0003t0002g0056 others(21): Show |
24 | 95 | 0.2526 | -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 | a0001c0018t0001a0001c0049t0001a0002c0002t0002others(3): Show | a0001c0018t0001g0031 a0001c0018t0001g0062 a0001c0049t0001g0013 others(4): Show |
7 | 166 | 0.0422 | -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 | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(35): Show | a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0168 others(45): Show |
48 | 104 | 0.4615 | -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 | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(23): Show | a0001c0001t0001g0183 a0001c0004t0001g0075 a0001c0005t0001g0020 others(29): Show |
32 | 216 | 0.1481 | -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 |
a0002a0006a0021 | a0002c0002a0006c0009a0021c0028 | a0002c0002t0001a0006c0009t0005a0021c0028t0002 | a0002c0002t0001g0160 a0006c0009t0005g0153 a0021c0028t0002g0073 others(1): Show |
4 | 216 | 0.0185 | -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 | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(88): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0038 others(132): Show |
135 | 139 | 0.9712 | -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 | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(9): Show | a0001c0001t0001g0038 a0001c0001t0001g0117 a0001c0004t0001g0145 others(11): Show |
14 | 121 | 0.1157 | -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 | a0001c0001t0001a0001c0004t0001a0001c0026t0014others(25): Show | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0168 others(28): Show |
31 | 106 | 0.2925 | -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 | a0001c0004t0015a0001c0005t0001a0002c0030t0002others(8): Show | a0001c0004t0015g0081 a0001c0005t0001g0135 a0002c0030t0002g0157 others(9): Show |
12 | 41 | 0.2927 | -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 | a0001c0001t0001a0001c0005t0001a0001c0006t0013others(11): Show | a0001c0001t0001g0038 a0001c0005t0001g0135 a0001c0006t0013g0136 others(11): Show |
14 | 153 | 0.0915 | -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 |
a0001a0020 | a0001c0001a0001c0006a0020c0021 | a0001c0001t0001a0001c0006t0001a0020c0021t0001 | a0001c0001t0001g0022 a0001c0006t0001g0110 a0001c0006t0001g0217 others(2): Show |
5 | 134 | 0.0373 | -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 |
a0001a0003a0006others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0013others(7): Show | a0001c0001t0001g0038 a0001c0005t0001g0135 a0001c0006t0013g0136 others(7): Show |
10 | 70 | 0.1429 | -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 | a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0004t0001g0080 others(5): Show |
8 | 112 | 0.0714 | -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 | a0001c0031t0003a0001c0071t0003a0003c0035t0011 | a0001c0031t0003g0123 a0001c0071t0003g0138 a0003c0035t0011g0005 |
3 | 216 | 0.0139 | -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 | a0002c0002t0002g0094 a0002c0050t0002g0088 a0009c0014t0002g0048 others(1): Show |
4 | 189 | 0.0212 | -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 | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(57): Show | a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0181 others(65): Show |
68 | 96 | 0.7083 | -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 |
a0001 | a0001c0019 | a0001c0019t0017a0001c0019t0025 | a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 |
3 | 246 | 0.0122 | -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 |
a0001a0007a0009 | a0001c0002a0001c0005a0001c0049others(2): Show | a0001c0002t0004a0001c0005t0004a0001c0049t0007others(2): Show | a0001c0002t0004g0071 a0001c0005t0004g0007 a0001c0005t0004g0098 others(4): Show |
7 | 12 | 0.5833 | -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 | a0001c0001t0002g0096 a0001c0001t0013g0013 a0001c0001t0015g0035 others(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 | a0001c0001t0003g0068 a0001c0001t0004g0004 a0001c0001t0004g0042 others(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 | a0001c0003t0002g0020 a0001c0003t0037g0003 a0001c0006t0001g0102 others(1): Show |
4 | 45 | 0.0889 | -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 | a0001c0001t0022g0063 a0001c0002t0001g0024 a0001c0002t0001g0044 others(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 |