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 | 41897290 | A | AATT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0026 | a0001c0001t0006g0037a0001c0001t0006g0038a0001c0001t0006g0039others(2): Show | 5 | 164 | 0.0305 | 3 | c.59+ others(20): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41900739 | C | CTTT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004a0001c0001t0007g0005 | 2 | 164 | 0.0122 | 3 | c.59+ others(20): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASP10_chr2_201178141_201226665 | 201190849 | A | AATT | intron_variant | MODIFIER | HG01261.hp2 HG02630.hp1 HG02717.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0007a0001c0005t0009others(1): Show | a0001c0001t0001g0072a0001c0003t0007g0061a0001c0003t0007g0063others(7): Show | 11 | 322 | 0.0342 | 3 | c.442 others(20): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASP10_chr2_201178141_201226665 | 201192394 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0028a0002c0002t0002others(6): Show | a0001c0001t0001g0060a0001c0001t0001g0085a0001c0001t0001g0112others(32): Show | 49 | 322 | 0.1522 | 3 | c.442 others(18): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASP10_chr2_201178141_201226665 | 201193508 | C | CGTG | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0018 | a0001c0003t0007g0061a0001c0003t0007g0063a0001c0003t0007g0064others(3): Show | 6 | 322 | 0.0186 | 3 | c.577 others(18): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASP14_chr19_15044480_15063293 | 15044862 | C | CTTT | upstream_gene_variant | MODIFIER | HG02293.hp1 HG02486.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0004a0001c0002t0014others(1): Show | a0001c0001t0004g0006a0001c0001t0004g0110a0001c0002t0004g0058others(4): Show | 10 | 428 | 0.0234 | 3 | c.-48 others(14): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 4617 | chr19 | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15044863 | T | TTTC | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02132.hp1 HG04184.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0033a0001c0001t0002g0097a0001c0001t0002g0103others(3): Show | 6 | 428 | 0.0140 | 3 | c.-48 others(14): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 4616 | chr19 | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15051502 | C | CAAA | intron_variant | MODIFIER | HG00639.hp2 HG01358.hp2 HG01433.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0079a0001c0001t0001g0080others(7): Show | 14 | 428 | 0.0327 | 3 | c.-46 others(18): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CASP1_chr11_105020508_105040144 | 105024399 | G | GTAT | downstream_gene_variant | MODIFIER | HG00621.hp1 HG02027.hp2 HG02155.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 4 | 398 | 0.0101 | 3 | c.*18 others(14): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 1108 | chr11 | TogoVar | ||||||
CASP2_chr7_143283351_143312696 | 143290055 | C | CTTT | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 5 | 246 | 0.0203 | 3 | c.75- others(18): Show |
CASP2 | ENSG00000106144.20 | transcript | ENST00000310447.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASP3_chr4_184622696_184654447 | 184628703 | C | CATT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0014 | a0001c0001t0005g0014a0001c0001t0005g0027a0001c0001t0005g0048others(12): Show | 25 | 366 | 0.0683 | 3 | c.*56 others(12): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 8/8 | 568 | chr4 | TogoVar | |||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TCAA | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01891.hp1 others(33): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0032a0001c0001t0001g0070others(25): Show | 36 | 366 | 0.0984 | 3 | c.483 others(18): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | ||||||
CASP3_chr4_184622696_184654447 | 184642029 | A | ATTT | intron_variant | MODIFIER | HG01975.hp1 HG02572.hp1 HG02630.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0083a0001c0001t0001g0092a0001c0001t0001g0160others(14): Show | 17 | 366 | 0.0465 | 3 | c.-15 others(20): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105024399 | G | GTAT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02155.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0037a0002c0002t0001g0038a0002c0002t0001g0296 | 3 | 396 | 0.0076 | 3 | c.-12 others(14): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1232 | chr11 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109688337 | C | CTGA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02723.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0055a0001c0001t0005g0192a0001c0001t0005g0193others(2): Show | 5 | 416 | 0.0120 | 3 | c.*99 others(12): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 290 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705995 | A | ATAT | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01515.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0144a0001c0001t0003g0056 | 3 | 416 | 0.0072 | 3 | c.-26 others(14): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2551 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705997 | A | ATAT | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01168.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0036a0001c0001t0001g0109others(2): Show | 7 | 416 | 0.0168 | 3 | c.-26 others(14): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2553 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705999 | A | ATAT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01928.hp2 HG01943.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0018others(1): Show | 9 | 416 | 0.0216 | 3 | c.-26 others(14): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2555 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706001 | A | ATAT | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01975.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0129a0001c0001t0002g0128 | 3 | 416 | 0.0072 | 3 | c.-26 others(14): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2557 | chr4 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687800 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG03669.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245a0001c0001t0002g0246a0001c0001t0002g0247 | 3 | 406 | 0.0074 | 3 | c.-1+ others(18): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP7_chr10_113674912_113735905 | 113687836 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0222a0001c0001t0002g0328a0001c0001t0003g0160others(69): Show | 72 | 406 | 0.1773 | 3 | c.-1+ others(18): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687846 | T | TTTC | intron_variant | MODIFIER | HG01515.hp2 HG02083.hp2 HG04199.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0245a0001c0001t0004g0074a0001c0001t0004g0338others(2): Show | 5 | 406 | 0.0123 | 3 | c.-1+ others(18): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP7_chr10_113674912_113735905 | 113687890 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00597.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0181a0001c0001t0002g0193a0001c0001t0002g0222others(57): Show | 62 | 406 | 0.1527 | 3 | c.-1+ others(18): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113713628 | C | CTGT | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01069.hp1 others(35): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0002a0003c0003t0002a0003c0003t0019others(1): Show | a0001c0001t0002g0307a0001c0001t0002g0309a0001c0001t0002g0312others(34): Show | 38 | 406 | 0.0936 | 3 | c.111 others(20): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP8_chr2_201255536_201292709 | 201257481 | C | CAAA | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02886.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0222a0001c0001t0001g0244others(8): Show | 13 | 386 | 0.0337 | 3 | c.-31 others(14): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 3054 | chr2 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201281591 | T | TATC | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02280.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0012 | a0001c0001t0004g0022a0001c0001t0004g0049a0001c0001t0004g0059others(26): Show | 31 | 386 | 0.0803 | 3 | c.803 others(20): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASP9_chr1_15486401_15529215 | 15494862 | C | CAAA | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG02723.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003a0001c0003t0004others(1): Show | a0001c0003t0002g0198a0001c0003t0002g0234a0001c0003t0002g0235others(8): Show | 11 | 350 | 0.0314 | 3 | c.104 others(20): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15497655 | A | ATAT | intron_variant | MODIFIER | HG00642.hp1 HG02896.hp2 HG02897.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003a0001c0003t0004others(2): Show | a0001c0003t0002g0243a0001c0003t0003g0247a0001c0003t0003g0249others(5): Show | 9 | 350 | 0.0257 | 3 | c.869 others(20): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
CASQ1_chr1_160185575_160206886 | 160205420 | A | AGCG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(184): Show |
a0001a0005a0007 | a0001c0001a0005c0011a0007c0009 | a0001c0001t0001a0001c0001t0002a0005c0011t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(46): Show | 187 | 440 | 0.4250 | 3 | c.*40 others(14): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 3535 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115711592 | G | GGTT | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00642.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(8): Show | a0001c0001t0002g0053a0001c0001t0002g0063a0001c0001t0002g0064others(46): Show | 49 | 364 | 0.1346 | 3 | c.838 others(20): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115723267 | T | TATC | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00642.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0012 | a0001c0001t0004a0001c0001t0019a0002c0004t0002others(2): Show | a0001c0001t0004g0071a0001c0001t0004g0159a0001c0001t0004g0192others(31): Show | 34 | 364 | 0.0934 | 3 | c.783 others(20): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115755978 | A | ACTT | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG01884.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(7): Show | a0001c0001t0002g0053a0001c0001t0002g0060a0001c0001t0002g0063others(25): Show | 28 | 364 | 0.0769 | 3 | c.235 others(22): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761467 | A | AAGG | intron_variant | MODIFIER | HG01361.hp2 HG01978.hp1 NA19064.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0108a0001c0002t0003g0042a0001c0002t0003g0160others(1): Show | 4 | 364 | 0.0110 | 3 | c.234 others(20): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115770901 | A | ATTT | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00673.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0001a0001c0001t0002g0050a0001c0001t0002g0067others(71): Show | 75 | 364 | 0.2060 | 3 | c.-23 others(14): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 2188 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115772871 | C | CAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(80): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0195a0001c0001t0004g0192a0001c0001t0004g0206others(79): Show | 83 | 364 | 0.2280 | 3 | c.-43 others(14): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4158 | chr1 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122183128 | A | ATTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0042others(60): Show | 64 | 314 | 0.2038 | 3 | c.-92 others(12): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 539 | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122195007 | G | GCTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(132): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(127): Show | 135 | 314 | 0.4299 | 3 | c.-24 others(24): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122248608 | A | ATTT | intron_variant | MODIFIER | HG01175.hp2 HG01358.hp2 HG02683.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0043a0002c0002t0002a0003c0004t0008others(2): Show | a0001c0001t0043g0290a0002c0002t0002g0168a0002c0002t0002g0174others(5): Show | 9 | 314 | 0.0287 | 3 | c.-24 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122252337 | A | AAAG | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0077a0001c0001t0007g0114a0001c0001t0009g0081 | 3 | 314 | 0.0096 | 3 | c.-24 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122252395 | G | GAAA | intron_variant | MODIFIER | HG02027.hp2 HG02257.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0231a0001c0001t0003g0161a0001c0001t0003g0162 | 3 | 314 | 0.0096 | 3 | c.-24 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122252399 | G | GAAA | intron_variant | MODIFIER | HG01346.hp1 HG02886.hp1 HG04199.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0003g0293a0001c0001t0005g0177a0001c0001t0010g0284others(2): Show | 5 | 314 | 0.0159 | 3 | c.-24 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122259628 | A | ATTT | intron_variant | MODIFIER | HG01081.hp2 HG02074.hp1 NA18964.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0058a0002c0002t0002g0063a0002c0002t0002g0201others(4): Show | 7 | 314 | 0.0223 | 3 | c.493 others(20): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122264109 | G | GAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(75): Show |
a0001 | a0001c0001a0001c0007a0001c0012 | a0001c0001t0001a0001c0001t0009a0001c0001t0020others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(71): Show | 78 | 314 | 0.2484 | 3 | c.137 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122278198 | G | GTAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0007a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(278): Show | 292 | 314 | 0.9299 | 3 | c.160 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASS4_chr20_56407260_56465382 | 56413672 | C | CAAA | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01496.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0153a0001c0001t0001g0154others(17): Show | 21 | 376 | 0.0559 | 3 | c.36+ others(18): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CASS4_chr20_56407260_56465382 | 56424740 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00733.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0153a0001c0001t0001g0155others(38): Show | 49 | 376 | 0.1303 | 3 | c.36+ others(20): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CASS4_chr20_56407260_56465382 | 56443104 | A | AGAC | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01106.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0001 | a0001c0001t0001g0326a0001c0002t0002g0003a0001c0002t0002g0309others(6): Show | 12 | 376 | 0.0319 | 3 | c.460 others(20): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74976531 | T | TCTC | intron_variant | MODIFIER | HG00544.hp2 HG01891.hp2 HG02040.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0013a0001c0001t0051others(4): Show | a0001c0001t0006g0034a0001c0001t0013g0020a0001c0001t0013g0021others(7): Show | 10 | 228 | 0.0439 | 3 | c.113 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74983000 | A | ATTT | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0028a0001c0001t0079 | a0001c0001t0013g0020a0001c0001t0013g0022a0001c0001t0013g0023others(2): Show | 5 | 228 | 0.0219 | 3 | c.113 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74984021 | A | ATCC | intron_variant | MODIFIER | HG01071.hp2 HG01346.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0224a0001c0001t0003g0225a0001c0002t0001g0066others(1): Show | 4 | 228 | 0.0175 | 3 | c.113 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |