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 | 41704313 | ATTATC | A | intron_variant | MODIFIER | HG01256.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0056 | 2 | 164 | 0.0122 | -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 | a0001c0001t0001g0022a0001c0001t0001g0044a0001c0001t0001g0154others(2): Show | 5 | 164 | 0.0305 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0046others(6): Show | 9 | 164 | 0.0549 | -5 | c.429 others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41876337 | CCAGAT | C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0066 | 1 | 164 | 0.0061 | -5 | c.60- others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41885372 | CAAGTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0001g0032a0001c0001t0002g0009others(15): Show | 18 | 164 | 0.1098 | -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 | a0001c0001t0001g0021a0001c0001t0001g0032a0001c0001t0002g0009others(15): Show | 18 | 164 | 0.1098 | -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 | a0001c0005t0009g0019a0001c0005t0009g0045a0001c0005t0009g0071others(1): Show | 5 | 322 | 0.0155 | -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 |
a0001a0007a0009 | a0001c0001a0007c0011a0009c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0102a0001c0001t0003g0047a0001c0001t0003g0048others(7): Show | 11 | 322 | 0.0342 | -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 | a0001c0001t0016a0001c0001t0017a0001c0001t0037others(1): Show | a0001c0001t0016g0031a0001c0001t0016g0032a0001c0001t0017g0031others(3): Show | 6 | 246 | 0.0244 | -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 | a0001c0001t0004g0042a0001c0001t0004g0043a0001c0001t0004g0161others(2): Show | 7 | 366 | 0.0191 | -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 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(101): Show | 177 | 358 | 0.4944 | -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 | a0001c0001t0005g0055a0001c0001t0005g0193a0001c0001t0005g0194 | 3 | 416 | 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 | a0001c0001t0001g0028a0001c0001t0001g0112a0001c0001t0002g0171 | 3 | 416 | 0.0072 | -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 | a0001c0001t0005g0017a0001c0001t0005g0051a0001c0001t0005g0052others(5): Show | 8 | 406 | 0.0197 | -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 | a0001c0003t0002g0006a0001c0003t0002g0015a0001c0003t0002g0016others(29): Show | 41 | 350 | 0.1171 | -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 | a0001c0001t0004g0159a0001c0001t0019g0022a0002c0003t0007g0018others(6): Show | 9 | 364 | 0.0247 | -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 | a0001c0001t0002g0104a0001c0001t0002g0109a0001c0002t0003g0205others(85): Show | 88 | 364 | 0.2418 | -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 | a0001c0001t0001g0211a0001c0001t0001g0221a0001c0001t0001g0237others(49): Show | 54 | 314 | 0.1720 | -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 | a0001c0001t0001g0044a0001c0001t0001g0049a0001c0001t0001g0051others(27): Show | 30 | 228 | 0.1316 | -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 | a0001c0001t0003g0088a0001c0001t0003g0091a0001c0001t0003g0224others(2): Show | 5 | 228 | 0.0219 | -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 | a0001c0001t0077a0001c0002t0033a0001c0002t0085others(2): Show | a0001c0001t0077g0117a0001c0002t0033g0068a0001c0002t0033g0075others(4): Show | 7 | 228 | 0.0307 | -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 | a0001c0001t0001g0024a0001c0001t0001g0051a0001c0001t0001g0064others(90): Show | 95 | 358 | 0.2654 | -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 | a0001c0005t0001g0244a0001c0005t0007g0242a0001c0005t0007g0243others(6): Show | 10 | 358 | 0.0279 | -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 |
a0001a0006a0007 | a0001c0001a0006c0009a0007c0015 | a0001c0001t0002a0006c0009t0008a0007c0015t0012 | a0001c0001t0002g0013a0001c0001t0002g0045a0006c0009t0008g0139others(4): Show | 8 | 358 | 0.0224 | -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 |
a0006a0007a0010 | a0006c0009a0007c0015a0010c0016 | a0006c0009t0008a0007c0015t0012a0010c0016t0011 | a0006c0009t0008g0139a0006c0009t0008g0140a0006c0009t0008g0141others(4): Show | 7 | 358 | 0.0196 | -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 | a0001c0001t0002g0290a0001c0001t0002g0292a0001c0001t0002g0293others(7): Show | 12 | 358 | 0.0335 | -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 |
a0001a0010 | a0001c0001a0010c0016 | a0001c0001t0003a0010c0016t0011 | a0001c0001t0003g0256a0001c0001t0003g0257a0010c0016t0011g0026 | 3 | 358 | 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 | a0001c0001t0004g0014a0001c0001t0004g0132a0001c0001t0004g0133others(13): Show | 18 | 358 | 0.0503 | -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 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(81): Show | 88 | 358 | 0.2458 | -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 | a0001c0001t0004g0014a0001c0001t0004g0132a0001c0001t0004g0133others(14): Show | 19 | 358 | 0.0531 | -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 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(81): Show | 88 | 358 | 0.2458 | -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 |
a0001a0011a0012others(1): Show | a0001c0003a0001c0004a0001c0009others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(18): Show | a0001c0003t0001g0207a0001c0003t0002g0046a0001c0003t0002g0050others(40): Show | 43 | 236 | 0.1822 | -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(49): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0106others(49): Show | 52 | 236 | 0.2203 | -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 | a0001c0001t0001g0011a0001c0001t0001g0040a0001c0001t0001g0043others(5): Show | 13 | 366 | 0.0355 | -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 |
a0002a0007a0015others(3): Show | a0002c0002a0002c0005a0002c0020others(5): Show | a0002c0002t0002a0002c0002t0005a0002c0005t0002others(7): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0007others(31): Show | 91 | 408 | 0.2230 | -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 |
a0001a0006a0010 | a0001c0001a0001c0015a0006c0008others(1): Show | a0001c0001t0001a0001c0015t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0001g0045others(5): Show | 10 | 398 | 0.0251 | -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 | a0001c0001t0002g0089a0001c0003t0002g0067a0001c0003t0002g0071others(3): Show | 6 | 398 | 0.0151 | -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 |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0016others(92): Show | 95 | 271 | 0.3506 | -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 |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(119): Show | 122 | 271 | 0.4502 | -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 | a0001c0001t0001g0027a0001c0001t0001g0056a0001c0001t0001g0058others(94): Show | 97 | 271 | 0.3579 | -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 | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0177others(3): Show | 6 | 271 | 0.0221 | -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 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0051others(35): Show | 38 | 336 | 0.1131 | -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(115): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0016a0001c0045others(16): Show | a0001c0001t0001a0001c0016t0001a0001c0045t0001others(18): Show | a0001c0001t0001g0067a0001c0001t0001g0074a0001c0001t0001g0084others(115): Show | 118 | 336 | 0.3512 | -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(238): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0040a0002c0002others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0020others(238): Show | 241 | 336 | 0.7173 | -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 | a0001c0001t0001g0077a0001c0001t0001g0093a0001c0001t0001g0099 | 3 | 336 | 0.0089 | -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 | a0001c0007t0001g0003a0001c0007t0001g0144a0001c0007t0001g0146 | 3 | 206 | 0.0146 | -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 | a0001c0002t0001g0088a0001c0003t0001g0031a0001c0003t0001g0044others(32): Show | 35 | 206 | 0.1699 | -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 | a0001c0002t0001g0088a0001c0003t0001g0031a0001c0003t0001g0044others(32): Show | 35 | 206 | 0.1699 | -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 | a0001c0003t0001g0031a0001c0003t0001g0044a0001c0003t0001g0045others(29): Show | 32 | 206 | 0.1553 | -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 | a0001c0003t0001g0031a0001c0003t0001g0044a0001c0003t0001g0045others(29): Show | 32 | 206 | 0.1553 | -5 | c.537 others(22): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |