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 | 41517225 | TTTAGA | T | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 |
3 | 162 | 0.0185 | -5 | c.*31 others(16): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 27/27 | 3190 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41704313 | ATTATC | A | intron_variant | MODIFIER | HG01256.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0053 |
2 | 162 | 0.0123 | -5 | c.430 others(24): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41729749 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0152 others(2): Show |
5 | 117 | 0.0427 | -5 | c.429 others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41729778 | AAAAAT | A | intron_variant | MODIFIER | HG01123.hp1 HG01515.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 others(6): Show |
9 | 162 | 0.0556 | -5 | c.429 others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41885372 | CAAGTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0002g0009 others(15): Show |
18 | 162 | 0.1111 | -5 | c.60- others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41900739 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0002g0009 others(15): Show |
18 | 138 | 0.1304 | -5 | c.59+ others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASP10_chr2_201178141_201226665 | 201205208 | TTTTTC | T | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0009a0002c0002t0002 | a0001c0005t0009g0019 a0001c0005t0009g0044 a0001c0005t0009g0069 others(1): Show |
5 | 320 | 0.0156 | -5 | c.722 others(20): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP10_chr2_201178141_201226665 | 201215211 | GTTTTT | G | intron_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG02615.hp1 others(8): Show |
a0001a0006a0008 | a0001c0001a0006c0008a0008c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0100 a0001c0001t0003g0046 a0001c0001t0003g0047 others(7): Show |
11 | 80 | 0.1375 | -5 | c.141 others(24): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP2_chr7_143283351_143312696 | 143291780 | CTTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0036others(1): Show | a0001c0001t0015g0031 a0001c0001t0015g0032 a0001c0001t0016g0031 others(3): Show |
6 | 36 | 0.1667 | -5 | c.225 others(20): Show |
CASP2 | ENSG00000106144.20 | transcript | ENST00000310447.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASP3_chr4_184622696_184654447 | 184652891 | AGAAGG | A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0161 others(2): Show |
7 | 364 | 0.0192 | -5 | c.-36 others(16): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 3445 | chr4 | TogoVar | |||||||
CASP4_chr11_104937866_104973574 | 104955565 | ATAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(97): Show |
177 | 356 | 0.4972 | -5 | c.8-5 others(16): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109684058 | CTCTTT | C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02809.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 a0001c0001t0005g0192 a0001c0001t0005g0193 |
3 | 414 | 0.0072 | -5 | c.*52 others(16): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 4569 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109706002 | ATATAT | A | upstream_gene_variant | MODIFIER | HG02895.hp1 HG03195.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028 a0001c0001t0001g0110 a0001c0001t0002g0170 |
3 | 392 | 0.0077 | -5 | c.-26 others(16): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2558 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113722897 | AAAAAT | A | intron_variant | MODIFIER | HG02647.hp2 HG03540.hp2 NA18956.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0005a0001c0001t0016a0002c0006t0001 | a0001c0001t0005g0028 a0001c0001t0005g0057 a0001c0001t0005g0058 others(5): Show |
8 | 404 | 0.0198 | -5 | c.376 others(22): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15497309 | TAAAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01099.hp1 others(38): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0003t0008a0001c0005t0002 | a0001c0003t0002g0006 a0001c0003t0002g0015 a0001c0003t0002g0016 others(29): Show |
41 | 323 | 0.1269 | -5 | c.869 others(22): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115734724 | ACTTAT | A | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG01891.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0004a0001c0001t0019a0002c0003t0007others(2): Show | a0001c0001t0004g0159 a0001c0001t0019g0027 a0002c0003t0007g0023 others(6): Show |
9 | 362 | 0.0249 | -5 | c.533 others(22): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115770901 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0002a0001c0002t0003a0002c0003t0001others(10): Show | a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0002t0003g0205 others(84): Show |
88 | 135 | 0.6519 | -5 | c.-23 others(16): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 2188 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122244750 | AATTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00621.hp2 others(51): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(14): Show | a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0239 others(49): Show |
54 | 312 | 0.1731 | -5 | c.-24 others(24): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74963074 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01243.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0050 others(26): Show |
30 | 56 | 0.5357 | -5 | c.-19 others(16): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1630 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74999601 | CTTTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01192.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0223 others(2): Show |
5 | 16 | 0.3125 | -5 | c.114 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 75008541 | TTTAAA | T | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0078a0001c0002t0033a0001c0002t0086others(2): Show | a0001c0001t0078g0080 a0001c0002t0033g0179 a0001c0002t0033g0181 others(4): Show |
7 | 226 | 0.0310 | -5 | c.184 others(20): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96661419 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(92): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0061 others(90): Show |
95 | 165 | 0.5758 | -5 | c.-10 others(15): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 956 | chr5 | TogoVar | |||||||
CAST_chr5_96657376_96779683 | 96666904 | ACTACT | A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02615.hp1 others(7): Show |
a0001a0002a0004 | a0001c0005a0002c0004a0002c0022others(1): Show | a0001c0005t0001a0001c0005t0007a0001c0005t0009others(3): Show | a0001c0005t0001g0013 a0001c0005t0007g0013 a0001c0005t0007g0239 others(6): Show |
10 | 356 | 0.0281 | -5 | c.75+ others(20): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96680378 | AAGAAG | A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG02015.hp2 others(5): Show |
a0001a0005a0007 | a0001c0001a0005c0009a0007c0015 | a0001c0001t0002a0005c0009t0008a0007c0015t0012 | a0001c0001t0002g0015 a0001c0001t0002g0045 a0005c0009t0008g0139 others(4): Show |
8 | 292 | 0.0274 | -5 | c.138 others(22): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96709636 | GCTTAT | G | intron_variant | MODIFIER | HG00738.hp1 HG01981.hp1 HG02015.hp2 others(4): Show |
a0005a0007a0014 | a0005c0009a0007c0015a0014c0016 | a0005c0009t0008a0007c0015t0012a0014c0016t0011 | a0005c0009t0008g0139 a0005c0009t0008g0140 a0005c0009t0008g0141 others(4): Show |
7 | 356 | 0.0197 | -5 | c.211 others(24): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96712320 | TTTTTC | T | intron_variant | MODIFIER | HG00423.hp1 HG02738.hp1 NA18942.hp1 others(9): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0015 | a0001c0001t0002a0002c0003t0002a0002c0003t0015others(1): Show | a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0288 others(7): Show |
12 | 356 | 0.0337 | -5 | c.211 others(24): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96768440 | GAAGAA | G | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 NA21309.hp1 |
a0001a0014 | a0001c0001a0014c0016 | a0001c0001t0003a0014c0016t0011 | a0001c0001t0003g0251 a0001c0001t0003g0252 a0014c0016t0011g0028 |
3 | 356 | 0.0084 | -5 | c.226 others(22): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96776759 | CTTTTG | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(15): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0004a0001c0001t0016a0001c0001t0018others(2): Show | a0001c0001t0004g0016 a0001c0001t0004g0132 a0001c0001t0004g0133 others(13): Show |
18 | 356 | 0.0506 | -5 | c.*41 others(16): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2077 | chr5 | TogoVar | |||||||
CAST_chr5_96657376_96779683 | 96776848 | ATTCTG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(85): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(79): Show |
88 | 356 | 0.2472 | -5 | c.*42 others(16): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2166 | chr5 | TogoVar | |||||||
CAST_chr5_96657376_96779683 | 96776988 | GTATGT | G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0020a0002c0004 | a0001c0001t0004a0001c0001t0016a0001c0001t0018others(3): Show | a0001c0001t0004g0016 a0001c0001t0004g0132 a0001c0001t0004g0133 others(14): Show |
19 | 356 | 0.0534 | -5 | c.*43 others(16): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2306 | chr5 | TogoVar | |||||||
CAST_chr5_96657376_96779683 | 96777605 | CTACTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(85): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(79): Show |
88 | 356 | 0.2472 | -5 | c.*49 others(16): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2923 | chr5 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10658674 | CCTCTG | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(40): Show |
a0001a0009a0012others(1): Show | a0001c0003a0001c0004a0001c0009others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(18): Show | a0001c0003t0001g0205 a0001c0003t0002g0046 a0001c0003t0002g0050 others(40): Show |
43 | 234 | 0.1838 | -5 | c.134 others(21): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 6/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10708966 | CGGGGA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00597.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0102 others(48): Show |
51 | 228 | 0.2237 | -5 | c.-76 others(22): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CATIP_chr2_218351857_218373094 | 218365469 | TTTTTG | T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0043 others(5): Show |
13 | 364 | 0.0357 | -5 | c.755 others(20): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATSPER1_chr11_66011752_66031479 | 66029028 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(88): Show |
a0002a0006a0012others(3): Show | a0002c0002a0002c0005a0002c0020others(5): Show | a0002c0002t0002a0002c0002t0005a0002c0005t0002others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0007 others(31): Show |
91 | 126 | 0.7222 | -5 | c.-26 others(16): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 2550 | chr11 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26193070 | AAAAAG | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02486.hp2 others(7): Show |
a0001a0005a0010 | a0001c0001a0001c0015a0005c0008others(1): Show | a0001c0001t0001a0001c0015t0002a0005c0008t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0046 others(5): Show |
10 | 396 | 0.0253 | -5 | c.358 others(20): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26196402 | CTTTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG01168.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0003t0002a0001c0003t0004others(1): Show | a0001c0001t0002g0086 a0001c0003t0002g0067 a0001c0003t0002g0071 others(3): Show |
6 | 166 | 0.0361 | -5 | c.460 others(22): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91648607 | AATATG | A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00738.hp2 others(92): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0017 others(92): Show |
95 | 270 | 0.3519 | -5 | c.143 others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91668243 | AAAACT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(119): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(118): Show |
122 | 270 | 0.4519 | -5 | c.128 others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91694438 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(94): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0057 others(93): Show |
97 | 181 | 0.5359 | -5 | c.617 others(20): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 7/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91707575 | CTTTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG02572.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0176 a0001c0001t0001g0189 others(2): Show |
6 | 8 | 0.7500 | -5 | c.466 others(20): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 6/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5715643 | TAAAAA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01071.hp1 others(35): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0004others(8): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(11): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0088 others(35): Show |
38 | 111 | 0.3423 | -5 | c.-50 others(16): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4993 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5751531 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(114): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0016a0001c0045others(16): Show | a0001c0001t0001a0001c0016t0001a0001c0045t0001others(18): Show | a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0124 others(114): Show |
117 | 129 | 0.9070 | -5 | c.988 others(18): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5767781 | ATTATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(237): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0040a0002c0002others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0021 others(237): Show |
240 | 334 | 0.7186 | -5 | c.156 others(22): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5772044 | CCTTTT | C | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0001g0146 |
3 | 334 | 0.0090 | -5 | c.176 others(22): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 19/21 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244507479 | TTTTAA | T | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02895.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0003 a0001c0007t0001g0144 a0001c0007t0001g0146 |
3 | 204 | 0.0147 | -5 | c.429 others(22): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244525501 | AAATAT | A | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01515.hp1 others(32): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0006others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0002t0001g0088 a0001c0003t0001g0031 a0001c0003t0001g0044 others(32): Show |
35 | 204 | 0.1716 | -5 | c.536 others(22): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244533156 | CTGATA | C | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01515.hp1 others(32): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0006others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0002t0001g0088 a0001c0003t0001g0031 a0001c0003t0001g0044 others(32): Show |
35 | 204 | 0.1716 | -5 | c.536 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244547556 | AAGAGT | A | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01515.hp1 others(29): Show |
a0001a0002a0004 | a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(8): Show | a0001c0003t0001g0031 a0001c0003t0001g0044 a0001c0003t0001g0045 others(29): Show |
32 | 204 | 0.1569 | -5 | c.537 others(22): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244547588 | CTAAGT | C | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01515.hp1 others(29): Show |
a0001a0002a0004 | a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(8): Show | a0001c0003t0001g0031 a0001c0003t0001g0044 a0001c0003t0001g0045 others(29): Show |
32 | 204 | 0.1569 | -5 | c.537 others(22): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |