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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASK_chrX_41509934_41928554 | 41603307 | C | CCTTTAG | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0132 | 1 | 164 | 0.0061 | 6 | c.115 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 12/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41611706 | G | GTCTCCC | intron_variant | MODIFIER | HG01255.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014 | a0001c0001t0011g0045a0001c0001t0014g0052 | 2 | 164 | 0.0122 | 6 | c.103 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 11/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41668348 | A | AAAAGGC | intron_variant | MODIFIER | HG01952.hp1 HG02129.hp1 NA19074.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0120a0001c0002t0001g0145a0001c0002t0003g0124 | 3 | 164 | 0.0183 | 6 | c.533 others(23): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 6/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41694850 | C | CACTTAT | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 164 | 0.0061 | 6 | c.430 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41710081 | T | TTGTGTG | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01071.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0046others(19): Show | 22 | 164 | 0.1342 | 6 | c.429 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41818145 | C | CTGTGTG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0135a0001c0001t0007g0004a0001c0001t0007g0005 | 3 | 164 | 0.0183 | 6 | c.173 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41829696 | G | GATATAT | intron_variant | MODIFIER | HG02572.hp1 HG02738.hp1 HG03209.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0099a0001c0001t0001g0129a0001c0001t0001g0154others(5): Show | 8 | 164 | 0.0488 | 6 | c.172 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41829706 | T | TATATAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0001g0032a0001c0001t0002g0012others(1): Show | 4 | 164 | 0.0244 | 6 | c.172 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41854222 | G | GCACACA | intron_variant | MODIFIER | HG02622.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0021a0001c0001t0026g0008 | 2 | 164 | 0.0122 | 6 | c.60- others(19): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41854224 | G | GCACACA | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0046a0001c0001t0001g0109a0001c0001t0001g0114others(4): Show | 7 | 164 | 0.0427 | 6 | c.60- others(20): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41854224 | G | GCGCACA | intron_variant | MODIFIER | HG00738.hp1 NA18522.hp1 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0018others(1): Show | a0001c0001t0004g0133a0001c0001t0013g0110a0001c0001t0018g0132others(1): Show | 4 | 164 | 0.0244 | 6 | c.60- others(19): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41887296 | C | CCACACA | intron_variant | MODIFIER | HG01123.hp2 HG02717.hp1 HG02735.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0001g0135others(5): Show | 8 | 164 | 0.0488 | 6 | c.60- others(23): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41912790 | T | TTATATA | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 164 | 0.0061 | 6 | c.59+ others(23): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41915990 | A | AACACAC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004a0001c0001t0007g0005 | 2 | 164 | 0.0122 | 6 | c.59+ others(21): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASP10_chr2_201178141_201226665 | 201190849 | A | AATTATT | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG06807.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0018a0001c0006t0012 | a0001c0003t0018g0062a0001c0006t0012g0018 | 3 | 322 | 0.0093 | 6 | c.442 others(23): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASP10_chr2_201178141_201226665 | 201192394 | A | AAATAAT | intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG01361.hp2 others(5): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0009a0002c0002t0002a0002c0002t0006 | a0001c0005t0009g0071a0002c0002t0002g0036a0002c0002t0002g0037others(3): Show | 8 | 322 | 0.0248 | 6 | c.442 others(21): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASP14_chr19_15044480_15063293 | 15049697 | T | TCTCTCA | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0022 | a0001c0001t0005g0022a0001c0001t0010g0153a0001c0001t0022g0022 | 5 | 428 | 0.0117 | 6 | c.-47 others(19): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CASP1_chr11_105020508_105040144 | 105035616 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0005g0007a0001c0001t0008g0017a0001c0001t0008g0034others(4): Show | 13 | 398 | 0.0327 | 6 | c.-50 others(15): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 473 | chr11 | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104944344 | G | GTCTCTC | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01175.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0005 | a0002c0004t0003g0030a0002c0004t0003g0053a0002c0004t0003g0056others(1): Show | 5 | 358 | 0.0140 | 6 | c.*5+ others(19): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 8/8 | chr11 | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104948817 | G | GACACAC | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01884.hp1 others(12): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0001 | a0001c0002t0001g0014a0001c0002t0001g0131a0001c0002t0001g0132others(8): Show | 15 | 358 | 0.0419 | 6 | c.782 others(21): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 5/8 | chr11 | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104950797 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0015others(56): Show | 105 | 358 | 0.2933 | 6 | c.546 others(21): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 4/8 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105001910 | A | ACACACG | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02622.hp1 others(11): Show |
a0007a0008a0012 | a0007c0011a0007c0012a0008c0007others(1): Show | a0007c0011t0001a0007c0012t0001a0008c0007t0001others(1): Show | a0007c0011t0001g0018a0007c0011t0001g0096a0007c0012t0001g0015others(8): Show | 14 | 396 | 0.0354 | 6 | c.717 others(21): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 5/9 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105009714 | T | TACACAC | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG01981.hp2 others(1): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0061a0003c0003t0001g0069a0004c0004t0001g0053others(1): Show | 4 | 396 | 0.0101 | 6 | c.8-7 others(17): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105009720 | C | CATATAT | intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG01261.hp2 others(15): Show |
a0001a0002a0019 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0010t0001others(1): Show | a0001c0001t0001g0083a0001c0001t0001g0170a0001c0001t0001g0203others(15): Show | 18 | 396 | 0.0455 | 6 | c.8-7 others(17): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109690247 | A | AAAACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(218): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0018others(97): Show | 221 | 416 | 0.5313 | 6 | c.643 others(21): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706129 | T | TTATATA | upstream_gene_variant | MODIFIER | HG02083.hp2 HG02280.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0136a0001c0001t0003g0013a0001c0001t0004g0152others(1): Show | 4 | 416 | 0.0096 | 6 | c.-27 others(17): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2685 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706131 | T | TTATATA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0001a0001c0001t0002g0030a0001c0001t0002g0054others(4): Show | 14 | 416 | 0.0337 | 6 | c.-27 others(17): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2687 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706164 | T | TATACAC | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02074.hp1 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0016a0001c0001t0003g0037others(1): Show | 7 | 416 | 0.0168 | 6 | c.-27 others(17): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2720 | chr4 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113678968 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02717.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0006 | a0001c0001t0002a0001c0001t0004a0001c0011t0017others(1): Show | a0001c0001t0002g0103a0001c0001t0002g0106a0001c0001t0004g0006others(4): Show | 8 | 406 | 0.0197 | 6 | c.-10 others(17): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 943 | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687816 | C | CTTTCTT | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp1 HG02055.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0341a0002c0002t0001g0342a0002c0002t0001g0343others(1): Show | 4 | 406 | 0.0099 | 6 | c.-1+ others(21): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP8_chr2_201255536_201292709 | 201268909 | T | TTGTGTG | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01256.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0048a0001c0001t0001g0231a0001c0001t0001g0232others(8): Show | 15 | 386 | 0.0389 | 6 | c.305 others(23): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASQ2_chr1_115695021_115773714 | 115768745 | G | GCACACA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00673.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0002a0002c0003t0001a0002c0003t0006others(1): Show | a0001c0001t0002g0233a0002c0003t0001g0260a0002c0003t0001g0264others(22): Show | 25 | 364 | 0.0687 | 6 | c.-21 others(15): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 32 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115773214 | C | CTGTGTG | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01070.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0002g0104a0001c0002t0001g0166a0001c0002t0001g0167others(21): Show | 24 | 364 | 0.0659 | 6 | c.-46 others(17): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122202480 | G | GGGGAGA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp1 others(52): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0088a0001c0001t0001g0179others(49): Show | 55 | 314 | 0.1752 | 6 | 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 | 122259628 | A | ATTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01109.hp2 others(10): Show |
a0004 | a0004c0003 | a0004c0003t0004a0004c0003t0045 | a0004c0003t0004g0002a0004c0003t0004g0092a0004c0003t0004g0153others(9): Show | 13 | 314 | 0.0414 | 6 | c.493 others(23): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122272091 | G | GTACACA | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0033 | a0001c0001t0003g0014a0001c0001t0003g0017a0001c0001t0003g0033others(2): Show | 5 | 314 | 0.0159 | 6 | c.137 others(25): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CASS4_chr20_56407260_56465382 | 56436336 | A | ATGTGTG | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02895.hp1 others(6): Show |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0007 | a0001c0002t0002a0002c0004t0001a0005c0007t0002 | a0001c0002t0002g0118a0002c0004t0001g0089a0002c0004t0001g0100others(6): Show | 9 | 376 | 0.0239 | 6 | c.37- others(19): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CASS4_chr20_56407260_56465382 | 56436374 | G | GTATATA | intron_variant | MODIFIER | HG00639.hp1 HG02572.hp2 HG02886.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0002a0003c0006t0001 | a0001c0002t0002g0110a0003c0006t0001g0006a0003c0006t0001g0095others(2): Show | 6 | 376 | 0.0160 | 6 | c.37- others(19): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74960681 | A | AAAAAAT | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0044a0001c0001t0001g0055a0001c0001t0001g0059others(7): Show | 10 | 228 | 0.0439 | 6 | c.-43 others(17): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4023 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960681 | A | AAAATAT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0051a0001c0001t0003g0057a0001c0001t0008g0040others(4): Show | 7 | 228 | 0.0307 | 6 | c.-43 others(17): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4023 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74976531 | T | TCTCCTC | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0063 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0063g0013 | 3 | 228 | 0.0132 | 6 | c.113 others(25): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74976568 | C | CTCCTCA | intron_variant | MODIFIER | HG01071.hp2 HG01346.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0224a0001c0001t0003g0225a0001c0002t0001g0066 | 3 | 228 | 0.0132 | 6 | c.113 others(25): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74995511 | G | GAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01169.hp1 HG01256.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(3): Show | a0001c0001t0002g0164a0001c0001t0007g0137a0001c0001t0012g0071others(3): Show | 6 | 228 | 0.0263 | 6 | c.114 others(25): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96666257 | A | AACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00621.hp2 others(76): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(20): Show | a0001c0001t0001g0123a0001c0001t0002g0209a0001c0001t0002g0210others(72): Show | 79 | 358 | 0.2207 | 6 | c.75+ others(21): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96752961 | T | TACACAC | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02886.hp1 others(4): Show |
a0002 | a0002c0004a0002c0013 | a0002c0004t0001a0002c0004t0005a0002c0004t0013others(1): Show | a0002c0004t0001g0101a0002c0004t0001g0113a0002c0004t0005g0030others(4): Show | 7 | 358 | 0.0196 | 6 | c.152 others(25): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10638911 | A | AGGCCGC | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01243.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0006a0002c0014others(10): Show | a0001c0001t0014a0002c0006t0014a0002c0006t0015others(15): Show | a0001c0001t0014g0224a0002c0006t0014g0074a0002c0006t0014g0198others(21): Show | 24 | 236 | 0.1017 | 6 | c.*25 others(13): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 21/21 | 30 | chr1 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10700078 | G | GACACAC | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02559.hp2 others(5): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0060a0001c0002t0024a0001c0003t0006others(4): Show | a0001c0001t0060g0175a0001c0002t0024g0150a0001c0003t0006g0228others(5): Show | 8 | 236 | 0.0339 | 6 | c.-24 others(23): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10700080 | G | GACACAC | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG02559.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0001c0002t0003a0003c0007t0016 | a0001c0002t0002g0154a0001c0002t0003g0029a0003c0007t0016g0048others(2): Show | 5 | 236 | 0.0212 | 6 | c.-24 others(23): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10702962 | C | CAGAGAG | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00735.hp2 others(69): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0061a0001c0001t0001g0091a0001c0001t0001g0092others(69): Show | 72 | 236 | 0.3051 | 6 | c.-24 others(23): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10758316 | T | TTCTCTC | intron_variant | MODIFIER | HG02055.hp2 HG03688.hp1 HG03834.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0058a0001c0003t0005others(1): Show | a0001c0001t0001g0171a0001c0001t0058g0197a0001c0003t0005g0034others(1): Show | 4 | 236 | 0.0170 | 6 | c.-77 others(23): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar |