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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABCOCO1_chr10_61657929_61771766 | 61679281 | T | TTATATCT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00738.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0010 | a0001c0001t0001a0001c0006t0001a0003c0010t0001 | a0001c0001t0001g0010 a0001c0001t0001g0098 a0001c0001t0001g0173 others(7): Show |
11 | 273 | 0.0403 | 18 | c.165 others(35): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61679329 | C | CTATATCT others(11): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02809.hp1 HG03710.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 a0001c0002t0002g0117 a0001c0002t0002g0121 others(3): Show |
6 | 157 | 0.0382 | 18 | c.165 others(35): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61720917 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01358.hp2 HG03704.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0006a0001c0008t0002 | a0001c0002t0002g0018 a0001c0002t0002g0029 a0001c0002t0006g0030 others(1): Show |
4 | 116 | 0.0345 | 18 | c.552 others(37): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61757700 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 62 | 0.0161 | 18 | c.553 others(35): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24011129 | G | GCGCACGC others(11): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0120 | 1 | 255 | 0.0039 | 18 | c.-31 others(27): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 174 | chr22 | TogoVar | |||||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTCTGTGT others(11): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0196 | 1 | 43 | 0.0233 | 18 | c.346 others(31): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG03516.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0016 | a0001c0001t0001a0001c0008t0001a0007c0016t0001 | a0001c0001t0001g0036 a0001c0001t0001g0097 a0001c0001t0001g0225 others(3): Show |
6 | 48 | 0.1250 | 18 | c.346 others(31): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23174821 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 26 | 0.0385 | 18 | c.846 others(37): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23177418 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0163 | 1 | 46 | 0.0217 | 18 | c.846 others(37): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23188543 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp2 others(43): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(43): Show |
46 | 252 | 0.1825 | 18 | c.846 others(33): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62398088 | A | ATGGTGGT others(11): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 | 1 | 290 | 0.0034 | 18 | c.363 others(35): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABP1_chr12_120635626_120672324 | 120654637 | C | CCAGGCCG others(11): Show |
intron_variant | MODIFIER | HG01943.hp2 HG03017.hp2 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 others(2): Show |
5 | 6 | 0.8333 | 18 | c.655 others(35): Show |
CABP1 | ENSG00000157782.10 | transcript | ENST00000316803.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48029794 | C | CAGAGAGA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0160 | 1 | 348 | 0.0029 | 18 | c.*76 others(27): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 762 | chr19 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48029798 | C | CAGAGAGA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01516.hp2 HG02818.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0004a0001c0005t0008a0002c0003t0003others(3): Show | a0001c0001t0004g0095 a0001c0005t0008g0116 a0002c0003t0003g0015 others(5): Show |
8 | 90 | 0.0889 | 18 | c.*74 others(27): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 758 | chr19 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64543402 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 15 | 0.0667 | 18 | c.199 others(35): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64544174 | C | CAGAGACC others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 164 | 0.0061 | 18 | c.199 others(35): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64606106 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0066 others(14): Show |
17 | 97 | 0.1753 | 18 | c.517 others(35): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64640741 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0115 | 1 | 3 | 0.3333 | 18 | c.100 others(37): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64681541 | G | GGTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001 | a0001c0001t0004g0002 a0001c0003t0001g0079 a0001c0003t0001g0080 |
3 | 59 | 0.0508 | 18 | c.348 others(35): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 25/26 | chr1 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13294487 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 NA19079.hp1 |
a0001a0002 | a0001c0006a0002c0019 | a0001c0006t0001a0002c0019t0002 | a0001c0006t0001g0033 a0002c0019t0002g0009 |
2 | 73 | 0.0274 | 18 | c.308 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310483 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0029 | a0029c0036 | a0029c0036t0006 | a0029c0036t0006g0180 | 1 | 194 | 0.0052 | 18 | c.166 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310487 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0011 | a0011c0043 | a0011c0043t0001 | a0011c0043t0001g0036 | 1 | 122 | 0.0082 | 18 | c.166 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336581 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0030 | 1 | 216 | 0.0046 | 18 | c.979 others(33): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG02040.hp1 others(2): Show |
a0001a0003a0006 | a0001c0005a0003c0046a0003c0054others(2): Show | a0001c0005t0001a0003c0046t0002a0003c0054t0004others(2): Show | a0001c0005t0001g0179 a0003c0046t0002g0115 a0003c0054t0004g0053 others(2): Show |
5 | 51 | 0.0980 | 18 | c.979 others(33): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02129.hp2 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0002 | a0001c0001t0001g0049 a0006c0009t0002g0032 |
2 | 31 | 0.0645 | 18 | c.539 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13433460 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02258.hp1 HG02451.hp1 others(6): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0101a0003c0013others(5): Show | a0002c0002t0002a0002c0101t0002a0003c0013t0001others(5): Show | a0002c0002t0002g0129 a0002c0002t0002g0142 a0002c0101t0002g0148 others(6): Show |
9 | 24 | 0.3750 | 18 | c.539 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13510188 | T | TGCCTACG others(11): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0072 | a0001c0072t0003 | a0001c0072t0003g0212 | 1 | 216 | 0.0046 | 18 | c.-39 others(29): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3710 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137954856 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02145.hp2 others(8): Show |
a0001a0008 | a0001c0002a0001c0003a0001c0022others(1): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0037others(5): Show | a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0008g0241 others(8): Show |
11 | 135 | 0.0815 | 18 | c.107 others(35): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137954879 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0095 | 1 | 215 | 0.0047 | 18 | c.107 others(35): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137954879 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(18): Show |
a0001a0015a0016 | a0001c0005a0001c0009a0001c0015others(2): Show | a0001c0005t0004a0001c0009t0003a0001c0015t0009others(2): Show | a0001c0005t0004g0007 a0001c0005t0004g0027 a0001c0005t0004g0082 others(18): Show |
21 | 235 | 0.0894 | 18 | c.107 others(35): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137954879 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02074.hp2 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0093 a0001c0005t0004g0094 |
2 | 216 | 0.0093 | 18 | c.107 others(35): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138052249 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
a0004a0005 | a0004c0041a0005c0014 | a0004c0041t0009a0005c0014t0006 | a0004c0041t0009g0078 a0005c0014t0006g0140 a0005c0014t0006g0146 others(1): Show |
4 | 95 | 0.0421 | 18 | c.380 others(33): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2107341 | G | GAAGCCGC others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0015a0001c0002t0029a0001c0003t0037others(5): Show | a0001c0001t0015g0035 a0001c0002t0029g0031 a0001c0003t0037g0003 others(5): Show |
8 | 101 | 0.0792 | 18 | c.50- others(33): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2310352 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0084 | 1 | 44 | 0.0227 | 18 | c.478 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2380030 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02273.hp2 HG06807.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0022a0001c0002t0001a0001c0003t0010others(1): Show | a0001c0001t0022g0063 a0001c0002t0001g0024 a0001c0002t0001g0044 others(2): Show |
5 | 75 | 0.0667 | 18 | c.478 others(37): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2420102 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18906.hp2 |
a0001 | a0001c0006a0001c0025 | a0001c0006t0001a0001c0025t0007 | a0001c0006t0001g0102 a0001c0025t0007g0014 |
2 | 28 | 0.0714 | 18 | c.478 others(37): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2497969 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03579.hp1 NA18966.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0032others(1): Show | a0001c0001t0043a0001c0005t0002a0001c0032t0031others(1): Show | a0001c0001t0043g0037 a0001c0005t0002g0090 a0001c0032t0031g0103 others(1): Show |
4 | 36 | 0.1111 | 18 | c.111 others(37): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02083.hp2 NA18982.hp1 |
a0001a0003 | a0001c0001a0001c0003a0003c0015 | a0001c0001t0018a0001c0003t0023a0003c0015t0001 | a0001c0001t0018g0110 a0001c0003t0023g0046 a0003c0015t0001g0141 |
3 | 16 | 0.1875 | 18 | c.122 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782262 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0011 | a0001c0011t0026 | a0001c0011t0026g0114 | 1 | 175 | 0.0057 | 18 | c.485 others(35): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG04204.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0015 | a0001c0003t0001g0161 a0001c0004t0015g0023 |
2 | 22 | 0.0909 | 18 | c.485 others(35): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0033a0001c0002t0016a0001c0002t0050others(3): Show | a0001c0001t0033g0018 a0001c0002t0016g0115 a0001c0002t0050g0121 others(3): Show |
6 | 26 | 0.2308 | 18 | c.485 others(35): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0201 | 1 | 21 | 0.0476 | 18 | c.485 others(35): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53787425 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0007a0001c0002t0009a0001c0004t0001others(1): Show | a0001c0002t0007g0035 a0001c0002t0009g0210 a0001c0004t0001g0169 others(1): Show |
4 | 61 | 0.0656 | 18 | c.498 others(35): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53810758 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0007 | a0001c0004t0002g0070 a0001c0005t0007g0174 |
2 | 63 | 0.0317 | 18 | c.625 others(35): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 48/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181779819 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0008 | a0001c0004t0004g0072 a0001c0004t0008g0032 a0001c0004t0008g0122 |
3 | 48 | 0.0625 | 18 | c.526 others(37): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181795767 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01258.hp2 others(1): Show |
a0001a0003a0004 | a0001c0004a0003c0003a0004c0007 | a0001c0004t0002a0003c0003t0001a0004c0007t0001 | a0001c0004t0002g0071 a0003c0003t0001g0076 a0003c0003t0001g0147 others(1): Show |
4 | 128 | 0.0313 | 18 | c.620 others(35): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50564125 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02897.hp2 HG03579.hp1 others(1): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0017t0002others(1): Show | a0001c0001t0001g0076 a0001c0003t0002g0074 a0001c0017t0002g0073 others(1): Show |
4 | 34 | 0.1176 | 18 | c.242 others(35): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50569015 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01261.hp2 HG02055.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0007others(6): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0004others(7): Show | a0001c0002t0002g0110 a0001c0003t0001g0067 a0001c0003t0001g0166 others(12): Show |
15 | 96 | 0.1563 | 18 | c.354 others(31): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 2/37 | chr17 | TogoVar | |||||||
CACNA1G_chr17_50555715_50632474 | 50570557 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(42): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(41): Show |
45 | 109 | 0.4128 | 18 | c.586 others(33): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50589912 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0075 | 1 | 188 | 0.0053 | 18 | c.230 others(35): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |