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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CA10_chr17_51625320_52163714 | 51849205 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0095 a0001c0001t0001g0125 others(11): Show |
14 | 137 | 0.1022 | -18 | c.279 others(37): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51868057 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp1 HG02257.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0127 a0001c0002t0001g0078 a0001c0002t0001g0079 |
3 | 79 | 0.0380 | -18 | c.279 others(37): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51878829 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0024 |
2 | 27 | 0.0741 | -18 | c.279 others(37): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 52120413 | ACCTTATC others(11): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00741.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0064 others(30): Show |
33 | 80 | 0.4125 | -18 | c.61+ others(35): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
CA13_chr8_85240458_85289073 | 85254777 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 348 | 0.0029 | -18 | c.235 others(35): Show |
CA13 | ENSG00000185015.8 | transcript | ENST00000321764.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87892510 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0003a0002c0005t0001others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0117 others(7): Show |
10 | 206 | 0.0485 | -18 | c.619 others(33): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8960743 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 237 | 0.0042 | -18 | c.501 others(35): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8973712 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02300.hp1 NA19004.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0317 a0001c0002t0001g0251 a0001c0002t0001g0351 |
3 | 309 | 0.0097 | -18 | c.845 others(33): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8978636 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0030 others(36): Show |
43 | 189 | 0.2275 | -18 | c.*39 others(29): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 3545 | chr1 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60190432 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0037 | a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0002t0037g0035 |
3 | 36 | 0.0833 | -18 | c.*36 others(33): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA9_chr9_35668928_35686159 | 35674193 | CGGAGAGG others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00639.hp2 HG02027.hp1 others(33): Show |
a0003 | a0003c0004a0003c0006a0003c0008others(2): Show | a0003c0004t0001a0003c0004t0002a0003c0006t0001others(3): Show | a0003c0004t0001g0011 a0003c0004t0001g0021 a0003c0004t0001g0030 others(19): Show |
36 | 444 | 0.0811 | -18 | c.272 others(25): Show |
p.Gly others(11): Show |
CA9 | ENSG00000107159.14 | transcript | ENST00000378357.9 | protein_coding | 1/11 | 304/1546 | 272/1380 | 91/459 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CA9_chr9_35668928_35686159 | 35685244 | ACTTGTCA others(11): Show |
A | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 444 | 0.0023 | -18 | c.*42 others(29): Show |
CA9 | ENSG00000107159.14 | transcript | ENST00000378357.9 | protein_coding | 4086 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49329542 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 312 | 0.0032 | -18 | c.834 others(35): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49329544 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01256.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0003g0015 a0001c0001t0016g0314 a0001c0002t0001g0047 others(5): Show |
8 | 177 | 0.0452 | -18 | c.834 others(35): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230727363 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0041 | a0001c0001t0011g0309 a0001c0001t0041g0308 |
2 | 96 | 0.0208 | -18 | c.-44 others(37): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230754438 | CCCCTCCT others(11): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0002g0306 a0001c0001t0009g0008 a0001c0001t0010g0013 others(13): Show |
16 | 305 | 0.0525 | -18 | c.-43 others(35): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61700928 | TATGTATA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(225): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(213): Show |
228 | 372 | 0.6129 | -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 | 61710253 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0354 | 1 | 10 | 0.1000 | -18 | c.552 others(37): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24136739 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 176 | 0.0057 | -18 | c.474 others(37): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23174821 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 HG03579.hp1 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0013a0003c0009t0037 | a0001c0001t0013g0188 a0001c0001t0013g0190 a0003c0009t0037g0265 |
3 | 28 | 0.1071 | -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 | 23191906 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(80): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(80): Show |
83 | 94 | 0.8830 | -18 | c.918 others(35): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62398053 | TGGCGATG others(11): Show |
T | intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0077 | 1 | 398 | 0.0025 | -18 | c.363 others(35): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62398058 | ATGGTGGT others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0019a0002c0003t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0037 others(37): Show |
82 | 395 | 0.2076 | -18 | c.363 others(35): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABP1_chr12_120635626_120672324 | 120654637 | CCAGGCCG others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(406): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(286): Show |
409 | 410 | 0.9976 | -18 | c.655 others(35): Show |
CABP1 | ENSG00000157782.10 | transcript | ENST00000316803.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133470189 | CTGTGTGT others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0047 | a0001c0001t0037g0110 a0001c0001t0047g0066 |
2 | 33 | 0.0606 | -18 | c.*15 others(29): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 5/5 | 1556 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64643036 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0050 a0001c0001t0001g0081 others(14): Show |
17 | 19 | 0.8947 | -18 | c.115 others(37): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64675993 | TTAATAAT others(11): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG03041.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0113 a0001c0001t0002g0144 a0001c0001t0002g0145 others(5): Show |
8 | 26 | 0.3077 | -18 | c.297 others(33): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(11): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(13): Show |
a0004a0022a0023others(4): Show | a0004c0007a0004c0047a0004c0080others(9): Show | a0004c0007t0001a0004c0047t0001a0004c0080t0001others(9): Show | a0004c0007t0001g0050 a0004c0007t0001g0058 a0004c0007t0001g0098 others(13): Show |
16 | 74 | 0.2162 | -18 | c.695 others(27): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6958/7521 | 2320/2506 | chr19 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13208174 | GGGAGGGG others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(12): Show |
a0003a0004a0017others(5): Show | a0003c0035a0003c0084a0003c0105others(10): Show | a0003c0035t0002a0003c0035t0011a0003c0084t0002others(11): Show | a0003c0035t0002g0077 a0003c0035t0011g0005 a0003c0084t0002g0141 others(12): Show |
15 | 203 | 0.0739 | -18 | c.678 others(35): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 46/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG02056.hp1 others(17): Show |
a0001a0002a0003others(7): Show | a0001c0004a0001c0006a0001c0122others(10): Show | a0001c0004t0001a0001c0006t0001a0001c0122t0001others(10): Show | a0001c0004t0001g0145 a0001c0004t0001g0199 a0001c0006t0001g0033 others(17): Show |
20 | 66 | 0.3030 | -18 | c.979 others(33): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346616 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02165.hp2 HG02615.hp1 |
a0001a0008a0028 | a0001c0037a0008c0029a0028c0112 | a0001c0037t0001a0008c0029t0002a0028c0112t0005 | a0001c0037t0001g0028 a0008c0029t0002g0169 a0028c0112t0005g0205 |
3 | 195 | 0.0154 | -18 | c.979 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346650 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0009 | a0009c0014 | a0009c0014t0020 | a0009c0014t0020g0175 | 1 | 208 | 0.0048 | -18 | c.979 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346652 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0108 | a0003c0108t0005 | a0003c0108t0005g0210 | 1 | 204 | 0.0049 | -18 | c.979 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346654 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA18939.hp1 NA18979.hp1 |
a0002a0022 | a0002c0002a0022c0109 | a0002c0002t0002a0022c0109t0001 | a0002c0002t0002g0040 a0022c0109t0001g0198 |
2 | 214 | 0.0093 | -18 | c.979 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13402869 | CACACATA others(11): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG01993.hp1 HG02040.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0018a0001c0049others(5): Show | a0001c0004t0001a0001c0018t0001a0001c0049t0001others(5): Show | a0001c0004t0001g0145 a0001c0004t0001g0199 a0001c0018t0001g0031 others(6): Show |
9 | 200 | 0.0450 | -18 | c.540 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13402873 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01496.hp1 others(13): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0003a0003c0015others(8): Show | a0001c0001t0001a0002c0003t0002a0003c0015t0002others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0117 others(13): Show |
16 | 108 | 0.1481 | -18 | c.540 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13482848 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG03195.hp1 others(3): Show |
a0001a0015a0018 | a0001c0004a0001c0072a0001c0096others(3): Show | a0001c0004t0001a0001c0072t0003a0001c0096t0010others(3): Show | a0001c0004t0001g0075 a0001c0072t0003g0212 a0001c0096t0010g0003 others(3): Show |
6 | 53 | 0.1132 | -18 | c.293 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497511 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0016 | a0016c0127 | a0016c0127t0001 | a0016c0127t0001g0007 | 1 | 213 | 0.0047 | -18 | c.293 others(35): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497519 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0009 | a0009c0014 | a0009c0014t0020 | a0009c0014t0020g0175 | 1 | 199 | 0.0050 | -18 | c.293 others(35): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497521 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02809.hp1 NA21309.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0002 | a0001c0006t0001g0151 a0002c0002t0002g0193 |
2 | 169 | 0.0118 | -18 | c.293 others(35): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2056196 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02040.hp2 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0088 a0001c0001t0002g0096 a0001c0001t0004g0004 others(13): Show |
16 | 20 | 0.8000 | -18 | c.49+ others(33): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2107216 | GAAGCCGC others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006a0001c0010others(3): Show | a0001c0003t0018a0001c0006t0001a0001c0010t0008others(3): Show | a0001c0003t0018g0073 a0001c0006t0001g0102 a0001c0010t0008g0069 others(3): Show |
6 | 104 | 0.0577 | -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 | 2124109 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0029 | a0001c0001t0015a0001c0029t0019 | a0001c0001t0015g0035 a0001c0029t0019g0065 |
2 | 8 | 0.2500 | -18 | c.477 others(35): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2277350 | GACAGACA others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0021 | a0001c0021t0027 | a0001c0021t0027g0087 | 1 | 101 | 0.0099 | -18 | c.477 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2277354 | GACAGACA others(11): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0018 | a0001c0018t0042 | a0001c0018t0042g0083 | 1 | 94 | 0.0106 | -18 | c.477 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2277358 | GACAGACA others(11): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01358.hp2 HG02683.hp1 others(2): Show |
a0001 | a0001c0002a0001c0008a0001c0012others(2): Show | a0001c0002t0001a0001c0008t0038a0001c0012t0007others(2): Show | a0001c0002t0001g0091 a0001c0008t0038g0045 a0001c0012t0007g0057 others(2): Show |
5 | 69 | 0.0725 | -18 | c.477 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2277362 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0035 | a0003c0035t0025 | a0003c0035t0025g0077 | 1 | 61 | 0.0164 | -18 | c.477 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2358251 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG03239.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 a0001c0002t0001g0091 |
2 | 4 | 0.5000 | -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 | 2572727 | TTCCTCTT others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0038 | a0001c0038t0041 | a0001c0038t0041g0047 | 1 | 104 | 0.0096 | -18 | c.189 others(37): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53520882 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02486.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0023 | a0001c0001t0022a0001c0002t0014a0001c0002t0027others(1): Show | a0001c0001t0022g0060 a0001c0002t0014g0003 a0001c0002t0027g0186 others(1): Show |
4 | 207 | 0.0193 | -18 | c.483 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |