regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf80_chr2_208160347_208195030 | 208176950 | T | TATGTATA others(25): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01516.hp2 HG01517.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0002 | a0001c0001t0002g0007a0001c0001t0002g0034a0001c0001t0002g0207others(1): Show | 5 | 342 | 0.0146 | 32 | c.366 others(49): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14773522 | A | AGGAGGGG others(25): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0018 | a0018c0028 | a0018c0028t0002 | a0018c0028t0002g0102 | 1 | 380 | 0.0026 | 32 | c.*64 others(41): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 487 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185134116 | C | CTCATATA others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0368 | 1 | 388 | 0.0026 | 32 | c.196 others(51): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C4orf33_chr4_129091152_129121637 | 129115817 | T | TATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0021 | 1 | 396 | 0.0025 | 32 | c.*40 others(43): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 6/6 | 4038 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
C4orf46_chr4_158661675_158676887 | 158673723 | A | AGAGCCTA others(25): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 370 | 0.0027 | 32 | c.-19 others(43): Show |
C4orf46 | ENSG00000205208.5 | transcript | ENST00000379205.5 | protein_coding | 1837 | chr4 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(25): Show |
upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 340 | 0.0029 | 32 | c.-50 others(43): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0365 | 1 | 380 | 0.0026 | 32 | c.216 others(49): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1136589 | T | TATATAAA others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0307 | 1 | 326 | 0.0031 | 32 | c.-2+ others(45): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885370 | T | TTATATTT others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01106.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0192a0004c0004t0001g0232a0004c0004t0001g0233 | 3 | 366 | 0.0082 | 32 | c.856 others(47): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8A_chr1_56849797_56923223 | 56885370 | T | TTATATTT others(25): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 NA19043.hp2 |
a0001a0018 | a0001c0001a0018c0017 | a0001c0001t0001a0018c0017t0002 | a0001c0001t0001g0080a0001c0001t0001g0084a0018c0017t0002g0079 | 3 | 366 | 0.0082 | 32 | c.856 others(47): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8orf33_chr8_145047467_145061030 | 145052318 | G | GCGCCCCG others(25): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 2 | 406 | 0.0049 | 32 | c.-17 others(41): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 148 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68466738 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0001a0001c0005t0003 | a0001c0001t0003g0077a0001c0002t0001g0010a0001c0005t0003g0046 | 3 | 128 | 0.0234 | 32 | c.608 others(49): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68466765 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 128 | 0.0078 | 32 | c.608 others(49): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
C9orf153_chr9_86215265_86264657 | 86231600 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02895.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0005a0002c0002t0005g0227a0002c0002t0005g0311others(2): Show | 7 | 384 | 0.0182 | 32 | c.-26 others(49): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
C9orf153_chr9_86215265_86264657 | 86251914 | T | TACACACA others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 384 | 0.0026 | 32 | c.-27 others(49): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
C9orf57_chr9_72046376_72065613 | 72055374 | C | CTCCCTCC others(25): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 450 | 0.0022 | 32 | c.280 others(47): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51717826 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01099.hp1 HG02273.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060a0001c0002t0001g0088a0001c0002t0001g0126 | 3 | 156 | 0.0192 | 32 | c.465 others(51): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51876687 | G | GTGAAGAC others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 156 | 0.0064 | 32 | c.279 others(51): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63376557 | C | CCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03942.hp2 HG04204.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0001g0032a0001c0001t0006g0336a0001c0001t0009g0146others(1): Show | 4 | 356 | 0.0112 | 32 | c.86- others(45): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63376600 | T | TTCTTTCT others(25): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 356 | 0.0028 | 32 | c.86- others(45): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87937767 | T | TTTTCTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG02055.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0042a0001c0002t0002g0032 | 2 | 400 | 0.0050 | 32 | c.-13 others(43): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1239 | chr16 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAAGAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG03669.hp2 NA19055.hp2 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0001a0004c0008t0001 | a0001c0002t0001g0236a0001c0002t0001g0318a0004c0008t0001g0327 | 3 | 452 | 0.0066 | 32 | c.*29 others(43): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0021a0001c0003t0006a0001c0003t0026 | a0001c0002t0021g0090a0001c0003t0006g0030a0001c0003t0006g0032others(1): Show | 4 | 344 | 0.0116 | 32 | c.*36 others(47): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00673.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0006a0001c0002t0005others(3): Show | a0001c0001t0002g0220a0001c0001t0002g0230a0001c0001t0002g0257others(20): Show | 23 | 344 | 0.0669 | 32 | c.*36 others(47): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02056.hp2 HG04228.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0013 | a0001c0001t0018g0037a0001c0002t0013g0172a0001c0002t0013g0177 | 3 | 344 | 0.0087 | 32 | c.*36 others(47): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0020 | 1 | 344 | 0.0029 | 32 | c.*36 others(47): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26872553 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0035 | 1 | 372 | 0.0027 | 32 | c.666 others(51): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49346100 | G | GAGATATA others(25): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03239.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047a0001c0002t0001g0236 | 2 | 324 | 0.0062 | 32 | c.565 others(49): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49346100 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | NA18983.hp2 NA18991.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122a0001c0002t0002g0241 | 2 | 324 | 0.0062 | 32 | c.565 others(49): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49405719 | G | GAGAGAGG others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 324 | 0.0031 | 32 | c.-31 others(51): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49405719 | G | GAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0136others(11): Show | 14 | 324 | 0.0432 | 32 | c.-31 others(51): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49405747 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01981.hp2 HG03669.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0002t0001g0047 | 3 | 324 | 0.0093 | 32 | c.-31 others(51): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748831 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 342 | 0.0029 | 32 | c.-43 others(51): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61680323 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01192.hp2 HG03688.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0070a0001c0001t0001g0080a0001c0001t0001g0365others(7): Show | 10 | 374 | 0.0267 | 32 | c.165 others(47): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23199309 | A | ACAATTAA others(25): Show |
intron_variant | MODIFIER | HG03669.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0041a0001c0014t0036 | a0001c0001t0041g0252a0001c0014t0036g0079 | 2 | 278 | 0.0072 | 32 | c.101 others(51): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABS1_chr4_70329981_70342116 | 70340742 | C | CTATTTAT others(25): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00733.hp1 others(26): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0002t0001g0002others(3): Show | 29 | 446 | 0.0650 | 32 | c.*38 others(43): Show |
CABS1 | ENSG00000145309.6 | transcript | ENST00000273936.6 | protein_coding | 3627 | chr4 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460471 | C | CGGCGGGG others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020 | a0001c0001t0014g0010a0001c0001t0020g0010 | 6 | 420 | 0.0143 | 32 | c.121 others(47): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13336594 | G | GGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18944.hp2 |
a0008a0013 | a0008c0008a0013c0027 | a0008c0008t0002a0013c0027t0001 | a0008c0008t0002g0099a0013c0027t0001g0179 | 2 | 218 | 0.0092 | 32 | c.979 others(47): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13360265 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 | 1 | 218 | 0.0046 | 32 | c.785 others(47): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13413884 | A | AAGAAAAG others(25): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0039 | a0003c0039t0009 | a0003c0039t0009g0075 | 1 | 218 | 0.0046 | 32 | c.539 others(51): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13413888 | A | AAGAAAAG others(25): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0118 | 1 | 218 | 0.0046 | 32 | c.539 others(51): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13413895 | A | AAGAAAAA others(25): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0099 | a0001c0099t0012 | a0001c0099t0012g0029 | 1 | 218 | 0.0046 | 32 | c.539 others(51): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13464543 | A | ATTGTTTT others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18975.hp1 |
a0003a0028 | a0003c0054a0028c0119 | a0003c0054t0043a0028c0119t0026 | a0003c0054t0043g0060a0028c0119t0026g0131 | 2 | 218 | 0.0092 | 32 | c.294 others(49): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510035 | A | AAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG01975.hp1 NA18955.hp2 others(3): Show |
a0001a0002a0028others(1): Show | a0001c0001a0002c0003a0028c0119others(1): Show | a0001c0001t0001a0002c0003t0002a0002c0003t0003others(2): Show | a0001c0001t0001g0050a0002c0003t0002g0126a0002c0003t0003g0127others(3): Show | 6 | 218 | 0.0275 | 32 | c.-38 others(43): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3557 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510035 | A | AAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0020 | a0020c0078 | a0020c0078t0019 | a0020c0078t0019g0151 | 1 | 218 | 0.0046 | 32 | c.-38 others(43): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3557 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510035 | A | AAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 NA18522.hp2 |
a0002a0003 | a0002c0101a0003c0084 | a0002c0101t0006a0003c0084t0016 | a0002c0101t0006g0150a0003c0084t0016g0145 | 2 | 218 | 0.0092 | 32 | c.-38 others(43): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3557 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13510035 | A | AAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 218 | 0.0046 | 32 | c.-38 others(43): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3557 | chr19 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2071172 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 104 | 0.0096 | 32 | c.49+ others(49): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181795767 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG02965.hp1 |
a0001a0003 | a0001c0001a0001c0032a0003c0010 | a0001c0001t0001a0001c0032t0062a0003c0010t0002 | a0001c0001t0001g0166a0001c0032t0062g0073a0003c0010t0002g0035 | 3 | 206 | 0.0146 | 32 | c.620 others(49): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39596214 | T | TGGGGAGC others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp2 others(32): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0018others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0050others(18): Show | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0152others(32): Show | 35 | 236 | 0.1483 | 32 | c.237 others(49): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |