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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAB39_chr2_230707842_230826075 | 230783442 | A | AGTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0035 others(97): Show |
101 | 109 | 0.9266 | 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 | 230813978 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp1 NA18986.hp1 NA19054.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0033 a0001c0001t0001g0074 a0001c0001t0001g0075 others(3): Show |
6 | 43 | 0.1395 | 5 | c.628 others(18): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230825154 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01069.hp2 HG02027.hp2 HG02080.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0186 others(36): Show |
39 | 197 | 0.1980 | 5 | c.*64 others(16): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 4080 | chr2 | TogoVar | |||||||
CABCOCO1_chr10_61657929_61771766 | 61720917 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(38): Show |
43 | 155 | 0.2774 | 5 | c.552 others(24): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24073567 | C | CTAGGA | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02922.hp2 |
a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0120 a0006c0013t0001g0121 a0006c0013t0001g0122 |
3 | 266 | 0.0113 | 5 | c.263 others(24): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24179132 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG02895.hp2 others(9): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0139 a0001c0003t0001g0125 a0001c0003t0001g0126 others(9): Show |
12 | 98 | 0.1224 | 5 | c.*93 others(14): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 505 | chr22 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23132938 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01099.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0014others(3): Show | a0001c0001t0007g0164 a0001c0001t0011g0167 a0001c0001t0011g0168 others(6): Show |
9 | 268 | 0.0336 | 5 | c.-28 others(16): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2546 | chr18 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23181496 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG00741.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0016 a0001c0001t0003g0096 a0001c0001t0004g0231 others(17): Show |
20 | 44 | 0.4545 | 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 | 23193194 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01515.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0271 a0001c0001t0001g0273 others(12): Show |
15 | 212 | 0.0708 | 5 | c.918 others(22): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23248512 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0002g0034 a0001c0001t0005g0211 a0001c0001t0011g0168 others(2): Show |
5 | 205 | 0.0244 | 5 | c.144 others(24): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23253671 | T | TTCGAG | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0034 a0001c0001t0011g0167 a0001c0001t0011g0168 others(2): Show |
5 | 276 | 0.0181 | 5 | c.155 others(20): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48029280 | A | AAAAAT | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0017 a0001c0005t0008g0113 a0001c0005t0008g0115 others(2): Show |
7 | 372 | 0.0188 | 5 | c.*12 others(16): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 102 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48037259 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01081.hp2 others(27): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0003a0002c0003t0013a0003c0004t0004others(1): Show | a0002c0003t0003g0061 a0002c0003t0003g0062 a0002c0003t0003g0065 others(20): Show |
30 | 47 | 0.6383 | 5 | c.348 others(22): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
CABP7_chr22_29715003_29736833 | 29718319 | C | CCTTAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(368): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show |
371 | 436 | 0.8509 | 5 | c.-21 others(16): Show |
CABP7 | ENSG00000100314.4 | transcript | ENST00000216144.4 | protein_coding | 1683 | chr22 | TogoVar | |||||||
CABYR_chr18_24134062_24166600 | 24134257 | G | GTTGTT | upstream_gene_variant | MODIFIER | HG01361.hp1 HG03139.hp1 HG03239.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0002t0001g0020 |
3 | 298 | 0.0101 | 5 | c.-48 others(16): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 4804 | chr18 | TogoVar | |||||||
CACFD1_chr9_133454978_133475848 | 133460238 | C | CGCCCT | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0037a0001c0002t0006 | a0001c0001t0002g0109 a0001c0001t0037g0110 a0001c0002t0006g0111 |
3 | 418 | 0.0072 | 5 | c.121 others(18): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460248 | T | TGCCCC | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0035 a0001c0001t0004g0034 a0001c0001t0010g0014 others(1): Show |
6 | 418 | 0.0144 | 5 | c.121 others(18): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460404 | C | CGGGCT | intron_variant | MODIFIER | HG02615.hp1 NA18978.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0064 | a0001c0001t0001g0107 a0001c0001t0008g0106 a0001c0001t0064g0080 |
3 | 418 | 0.0072 | 5 | c.121 others(20): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64505379 | T | TGGAGG | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 others(10): Show |
13 | 164 | 0.0793 | 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 | 64505847 | T | TCGCCC | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(3): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0058 others(9): Show |
12 | 144 | 0.0833 | 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 | 64521975 | G | GTTTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(137): Show |
140 | 164 | 0.8537 | 5 | c.199 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64566458 | G | GCTCCA | intron_variant | MODIFIER | HG02280.hp2 HG06807.hp2 |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0115 a0001c0004t0009g0121 |
2 | 164 | 0.0122 | 5 | c.262 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64566479 | T | TCCCCC | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01261.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0002g0165 others(8): Show |
11 | 16 | 0.6875 | 5 | c.262 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64590659 | G | GGTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0016 | a0001c0001t0003g0162 a0001c0001t0013g0014 a0001c0001t0016g0109 |
3 | 150 | 0.0200 | 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 | 64594270 | G | GAAAGA | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0079 a0001c0003t0001g0080 |
2 | 164 | 0.0122 | 5 | c.411 others(22): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64598819 | T | TAAATA | intron_variant | MODIFIER | HG00597.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0119 a0001c0001t0005g0137 |
2 | 164 | 0.0122 | 5 | c.411 others(22): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3/26 | chr1 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64643036 | T | TAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01192.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0040 a0001c0001t0004g0004 a0001c0001t0004g0011 others(6): Show |
9 | 11 | 0.8182 | 5 | c.115 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13202280 | T | TCTATC | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02896.hp2 |
a0001a0013 | a0001c0001a0013c0111 | a0001c0001t0001a0013c0111t0001 | a0001c0001t0001g0038 a0013c0111t0001g0209 |
2 | 134 | 0.0149 | 5 | c.*50 others(16): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4161 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13227903 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01981.hp2 HG02293.hp2 others(3): Show |
a0001a0005a0018 | a0001c0001a0001c0004a0001c0020others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0020t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0004t0001g0145 others(3): Show |
6 | 28 | 0.2143 | 5 | c.552 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 36/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13238595 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0004a0001c0005others(103): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(113): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(179): Show |
182 | 203 | 0.8966 | 5 | c.495 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 31/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13255697 | C | CTTCCT | intron_variant | MODIFIER | HG02451.hp2 HG03195.hp2 |
a0018 | a0018c0017 | a0018c0017t0004 | a0018c0017t0004g0211 a0018c0017t0004g0216 |
2 | 213 | 0.0094 | 5 | c.459 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13259312 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp1 HG01070.hp2 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0005a0001c0018a0001c0122others(7): Show | a0001c0005t0001a0001c0018t0001a0001c0122t0001others(7): Show | a0001c0005t0001g0204 a0001c0018t0001g0062 a0001c0122t0001g0176 others(7): Show |
10 | 102 | 0.0980 | 5 | c.438 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 27/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13271214 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(19): Show |
a0001a0002a0003others(8): Show | a0001c0018a0001c0049a0001c0098others(14): Show | a0001c0018t0001a0001c0049t0001a0001c0098t0001others(14): Show | a0001c0018t0001g0031 a0001c0049t0001g0013 a0001c0098t0001g0101 others(19): Show |
22 | 62 | 0.3548 | 5 | c.398 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13293439 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01169.hp1 others(22): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0034others(13): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(14): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0117 others(22): Show |
25 | 124 | 0.2016 | 5 | c.308 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13294487 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01106.hp2 others(38): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(21): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(23): Show | a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0038 others(38): Show |
41 | 112 | 0.3661 | 5 | c.308 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310485 | A | ATATAT | intron_variant | MODIFIER | HG01261.hp1 HG02040.hp2 NA18906.hp2 |
a0001a0006a0009 | a0001c0099a0006c0118a0009c0051 | a0001c0099t0005a0006c0118t0002a0009c0051t0002 | a0001c0099t0005g0019 a0006c0118t0002g0063 a0009c0051t0002g0177 |
3 | 164 | 0.0183 | 5 | c.166 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310487 | A | ATATAT | intron_variant | MODIFIER | NA18995.hp2 NA19012.hp2 |
a0002a0043 | a0002c0082a0043c0061 | a0002c0082t0002a0043c0061t0002 | a0002c0082t0002g0060 a0043c0061t0002g0106 |
2 | 123 | 0.0163 | 5 | c.166 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13313498 | T | TAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp1 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0071a0002c0101a0003c0013others(2): Show | a0001c0071t0003a0002c0101t0002a0003c0013t0001others(2): Show | a0001c0071t0003g0138 a0002c0101t0002g0148 a0003c0013t0001g0150 others(2): Show |
5 | 100 | 0.0500 | 5 | c.155 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13315940 | C | CTTTAT | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(12): Show |
a0001a0002a0004others(5): Show | a0001c0016a0001c0020a0001c0058others(11): Show | a0001c0016t0001a0001c0020t0001a0001c0058t0001others(11): Show | a0001c0016t0001g0047 a0001c0016t0001g0076 a0001c0020t0001g0069 others(12): Show |
15 | 216 | 0.0694 | 5 | c.155 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13316552 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG02273.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0037a0001c0038others(9): Show | a0001c0001t0001a0001c0037t0001a0001c0038t0002others(9): Show | a0001c0001t0001g0168 a0001c0037t0001g0028 a0001c0038t0002g0206 others(10): Show |
13 | 82 | 0.1585 | 5 | c.155 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13329783 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02486.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0006a0001c0031others(5): Show | a0001c0004t0001a0001c0006t0001a0001c0031t0003others(5): Show | a0001c0004t0001g0075 a0001c0006t0001g0110 a0001c0006t0001g0217 others(7): Show |
10 | 164 | 0.0610 | 5 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13349007 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(41): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0005others(30): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(32): Show | a0001c0001t0001g0183 a0001c0004t0001g0043 a0001c0004t0001g0145 others(41): Show |
44 | 158 | 0.2785 | 5 | c.978 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13393817 | T | TCCTTC | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(57): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0005others(39): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(40): Show | a0001c0001t0001g0015 a0001c0004t0001g0043 a0001c0004t0001g0080 others(57): Show |
60 | 216 | 0.2778 | 5 | c.540 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01975.hp2 others(3): Show |
a0001a0006a0010others(1): Show | a0001c0018a0001c0049a0006c0009others(2): Show | a0001c0018t0001a0001c0049t0001a0006c0009t0017others(2): Show | a0001c0018t0001g0031 a0001c0018t0001g0062 a0001c0049t0001g0013 others(3): Show |
6 | 35 | 0.1714 | 5 | c.539 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13426056 | T | TCAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01978.hp2 |
a0002a0005 | a0002c0086a0005c0022 | a0002c0086t0002a0005c0022t0001 | a0002c0086t0002g0039 a0005c0022t0001g0108 |
2 | 216 | 0.0093 | 5 | c.539 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13450139 | C | CAAAAA | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG03225.hp1 others(2): Show |
a0001a0010a0011others(1): Show | a0001c0004a0001c0031a0010c0107others(2): Show | a0001c0004t0001a0001c0031t0003a0010c0107t0007others(2): Show | a0001c0004t0001g0075 a0001c0031t0003g0215 a0010c0107t0007g0004 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 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(61): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0005others(40): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(42): Show | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0049 others(61): Show |
64 | 124 | 0.5161 | 5 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13472743 | C | CTTAAT | intron_variant | MODIFIER | HG01109.hp2 HG03139.hp1 NA19030.hp2 |
a0001a0044 | a0001c0001a0001c0031a0044c0052 | a0001c0001t0001a0001c0031t0003a0044c0052t0002 | a0001c0001t0001g0154 a0001c0031t0003g0123 a0044c0052t0002g0155 |
3 | 216 | 0.0139 | 5 | c.294 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13511346 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(37): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0006others(27): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(28): Show | a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0192 others(37): Show |
40 | 73 | 0.5479 | 5 | c.-51 others(16): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4868 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138087713 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG02056.hp2 others(20): Show |
a0001a0002a0016 | a0001c0002a0001c0007a0001c0009others(3): Show | a0001c0002t0002a0001c0007t0003a0001c0009t0003others(5): Show | a0001c0002t0002g0044 a0001c0007t0003g0035 a0001c0007t0003g0039 others(20): Show |
23 | 97 | 0.2371 | 5 | c.509 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |