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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASK_chrX_41509934_41928554 | 41770313 | T | TACCTATC others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03654.hp1 HG04199.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 others(2): Show |
5 | 139 | 0.0360 | 8 | c.278 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41829696 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18960.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0064 a0001c0001t0001g0146 a0001c0001t0003g0054 |
3 | 30 | 0.1000 | 8 | c.172 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41829704 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | 161 | 0.0186 | 8 | c.172 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41854222 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0073 |
2 | 126 | 0.0159 | 8 | c.60- others(21): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41912790 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0002g0010 others(14): Show |
17 | 152 | 0.1118 | 8 | c.59+ others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASP1_chr11_105020508_105040144 | 105024698 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01258.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0012 a0001c0002t0006g0019 a0001c0002t0006g0026 |
8 | 254 | 0.0315 | 8 | c.*15 others(19): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 809 | chr11 | TogoVar | |||||||
CASP1_chr11_105020508_105040144 | 105035616 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0007a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0001t0007g0035 a0001c0002t0003g0003 a0001c0002t0003g0027 others(3): Show |
12 | 341 | 0.0352 | 8 | c.-50 others(17): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 473 | chr11 | TogoVar | |||||||
CASP2_chr7_143283351_143312696 | 143291780 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0012 | a0001c0001t0001g0068 a0001c0001t0009g0101 a0001c0001t0009g0107 others(1): Show |
5 | 35 | 0.1429 | 8 | c.225 others(23): Show |
CASP2 | ENSG00000106144.20 | transcript | ENST00000310447.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TCAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0014 | a0001c0001t0005g0048 a0001c0001t0005g0196 a0001c0001t0005g0198 others(3): Show |
7 | 45 | 0.1556 | 8 | c.483 others(23): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
CASP4_chr11_104937866_104973574 | 104944368 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01891.hp1 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0005a0002c0004t0003 | a0001c0001t0003g0079 a0001c0001t0005g0192 a0002c0004t0003g0058 others(2): Show |
5 | 83 | 0.0602 | 8 | c.*5+ others(21): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 8/8 | chr11 | TogoVar | |||||||
CASP4_chr11_104937866_104973574 | 104948815 | G | GAAACAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(169): Show |
301 | 334 | 0.9012 | 8 | c.782 others(23): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
CASP4_chr11_104937866_104973574 | 104948817 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 3 | 20 | 0.1500 | 8 | c.782 others(23): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
CASP4_chr11_104937866_104973574 | 104950797 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(142): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(72): Show |
145 | 154 | 0.9416 | 8 | c.546 others(23): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 4/8 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105009720 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02273.hp1 HG03490.hp2 others(1): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0001a0004c0004t0001 | a0002c0003t0001g0015 a0002c0003t0001g0033 a0002c0003t0001g0074 others(1): Show |
4 | 228 | 0.0175 | 8 | c.8-7 others(19): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105024698 | T | TAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01258.hp2 HG01884.hp1 others(5): Show |
a0002a0004 | a0002c0003a0002c0005a0004c0004 | a0002c0003t0001a0002c0005t0001a0004c0004t0001 | a0002c0003t0001g0014 a0002c0003t0001g0032 a0002c0003t0001g0064 others(3): Show |
8 | 248 | 0.0323 | 8 | c.-15 others(19): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1531 | chr11 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109690247 | A | AAAAAACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02257.hp1 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0069 others(11): Show |
25 | 163 | 0.1534 | 8 | c.643 others(23): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 6/6 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109706129 | T | TTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02602.hp2 HG03669.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018 a0001c0001t0002g0001 a0001c0001t0003g0013 others(3): Show |
6 | 234 | 0.0256 | 8 | c.-27 others(19): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2685 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109706131 | T | TTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0002g0001 others(16): Show |
27 | 187 | 0.1444 | 8 | c.-27 others(19): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2687 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109706168 | T | TACACATA others(1): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA18940.hp2 NA18954.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0009a0004c0005t0003a0004c0005t0010 | a0001c0001t0009g0020 a0004c0005t0003g0092 a0004c0005t0010g0093 |
3 | 355 | 0.0085 | 8 | c.-27 others(19): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2724 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113678968 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 |
3 | 352 | 0.0085 | 8 | c.-10 others(19): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 943 | chr10 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687794 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01192.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0205 a0001c0001t0004g0080 a0001c0001t0004g0157 others(21): Show |
24 | 295 | 0.0814 | 8 | c.-1+ others(23): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687846 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03098.hp2 NA18612.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006 | a0001c0001t0003g0331 a0001c0001t0005g0056 a0001c0001t0005g0057 others(6): Show |
9 | 228 | 0.0395 | 8 | c.-1+ others(23): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687916 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01255.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0002c0002t0001 | a0001c0001t0004g0156 a0001c0001t0004g0159 a0001c0001t0005g0091 others(3): Show |
6 | 319 | 0.0188 | 8 | c.-1+ others(23): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201268909 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp1 NA18986.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0194 a0001c0001t0004g0212 a0001c0002t0002g0112 |
3 | 103 | 0.0291 | 8 | c.305 others(25): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15490220 | A | ATATCTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG02080.hp1 HG02109.hp2 others(7): Show |
a0002 | a0002c0001a0002c0008 | a0002c0001t0001a0002c0008t0001 | a0002c0001t0001g0003 a0002c0001t0001g0045 a0002c0001t0001g0077 others(6): Show |
10 | 191 | 0.0524 | 8 | c.*27 others(19): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 1180 | chr1 | TogoVar | |||||||
CASQ1_chr1_160185575_160206886 | 160186086 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(5): Show |
10 | 104 | 0.0962 | 8 | c.-46 others(19): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 4488 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115723274 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01070.hp2 others(101): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(14): Show | a0001c0001t0002g0004 a0001c0001t0002g0051 a0001c0001t0002g0054 others(99): Show |
104 | 222 | 0.4685 | 8 | c.783 others(25): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115723274 | C | CTATCATC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(15): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0175 a0002c0003t0001g0260 a0002c0003t0001g0262 others(15): Show |
18 | 136 | 0.1324 | 8 | c.783 others(25): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115723293 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0008a0001c0002t0012a0001c0002t0013others(2): Show | a0001c0001t0008g0029 a0001c0001t0008g0036 a0001c0002t0012g0030 others(5): Show |
8 | 359 | 0.0223 | 8 | c.783 others(25): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115723305 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 HG01981.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0021others(8): Show | a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0068 others(44): Show |
47 | 145 | 0.3241 | 8 | c.783 others(25): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115743197 | G | GTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03195.hp2 HG03486.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0004others(2): Show | a0001c0002t0001a0002c0003t0007a0002c0004t0004others(2): Show | a0001c0002t0001g0056 a0002c0003t0007g0023 a0002c0003t0007g0024 others(4): Show |
7 | 310 | 0.0226 | 8 | c.319 others(25): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115766865 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01517.hp2 HG02451.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0002c0003t0001others(3): Show | a0001c0001t0002g0233 a0001c0002t0003g0050 a0001c0002t0003g0231 others(7): Show |
11 | 153 | 0.0719 | 8 | c.234 others(25): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115768745 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(99): Show |
a0002a0003a0004 | a0002c0003a0002c0004a0002c0013others(3): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0006others(9): Show | a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0280 others(96): Show |
102 | 330 | 0.3091 | 8 | c.-21 others(17): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 32 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115773214 | C | CTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02015.hp2 HG03239.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0003a0001c0006t0003a0002c0003t0001others(2): Show | a0001c0002t0003g0202 a0001c0006t0003g0182 a0002c0003t0001g0326 others(2): Show |
5 | 42 | 0.1190 | 8 | c.-46 others(19): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252362 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG04204.hp2 NA18953.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0012others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0073 others(4): Show |
7 | 233 | 0.0300 | 8 | c.-24 others(27): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAAAA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02976.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0002c0002t0017a0003c0004t0008 | a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0017g0218 others(3): Show |
6 | 44 | 0.1364 | 8 | c.-24 others(27): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122272091 | G | GTACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01081.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0041others(2): Show | a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0024 others(27): Show |
30 | 59 | 0.5085 | 8 | c.137 others(27): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74978063 | G | GATCTCTG others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01346.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028a0001c0001t0066 | a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0028g0219 others(1): Show |
4 | 226 | 0.0177 | 8 | c.113 others(27): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74995511 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01346.hp1 HG01433.hp2 others(21): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0059 a0001c0001t0002g0152 a0001c0001t0003g0163 others(21): Show |
24 | 53 | 0.4528 | 8 | c.114 others(27): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96666257 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(90): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(82): Show |
93 | 172 | 0.5407 | 8 | c.75+ others(23): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96723116 | T | TTTCGTTT others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02630.hp1 others(6): Show |
a0001a0002a0004 | a0001c0005a0002c0022a0004c0029 | a0001c0005t0001a0001c0005t0007a0001c0005t0009others(2): Show | a0001c0005t0001g0013 a0001c0005t0007g0013 a0001c0005t0007g0239 others(5): Show |
9 | 354 | 0.0254 | 8 | c.270 others(23): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10685676 | C | CGAAGCTG others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02809.hp2 others(1): Show |
a0001a0003 | a0001c0002a0003c0029 | a0001c0002t0007a0001c0002t0025a0003c0029t0059 | a0001c0002t0007g0060 a0001c0002t0025g0070 a0001c0002t0025g0147 others(1): Show |
4 | 234 | 0.0171 | 8 | c.16+ others(23): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10700080 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02257.hp2 others(6): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0008a0001c0003t0002a0001c0003t0006others(5): Show | a0001c0001t0008g0020 a0001c0003t0002g0050 a0001c0003t0002g0207 others(6): Show |
9 | 111 | 0.0811 | 8 | c.-24 others(25): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10702962 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01258.hp1 HG01981.hp1 others(5): Show |
a0001a0014 | a0001c0001a0001c0002a0014c0021 | a0001c0001t0001a0001c0001t0050a0001c0002t0002others(3): Show | a0001c0001t0001g0179 a0001c0001t0001g0232 a0001c0001t0050g0144 others(5): Show |
8 | 147 | 0.0544 | 8 | c.-24 others(25): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10740960 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0087 others(76): Show |
79 | 198 | 0.3990 | 8 | c.-77 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10768205 | C | CGTTTGTT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG06807.hp1 NA18522.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0009a0003c0031 | a0001c0002t0025a0001c0009t0002a0001c0009t0017others(1): Show | a0001c0002t0025g0147 a0001c0009t0002g0049 a0001c0009t0017g0148 others(1): Show |
4 | 226 | 0.0177 | 8 | c.-23 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CATIP_chr2_218351857_218373094 | 218357259 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02451.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0035 others(12): Show |
20 | 40 | 0.5000 | 8 | c.118 others(22): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATIP_chr2_218351857_218373094 | 218359341 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0074 others(3): Show |
7 | 170 | 0.0412 | 8 | c.376 others(25): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATIP_chr2_218351857_218373094 | 218360139 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01099.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0079 others(4): Show |
9 | 273 | 0.0330 | 8 | c.376 others(23): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATSPER1_chr11_66011752_66031479 | 66027488 | A | ATTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0024a0001c0028others(13): Show | a0001c0001t0001a0001c0024t0001a0001c0028t0001others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(60): Show |
211 | 297 | 0.7104 | 8 | c.-11 others(19): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1010 | chr11 | TogoVar |