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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIZ1_chr9_128161065_128196572 | 128172147 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp1 others(76): Show |
a0001a0007a0009others(1): Show | a0001c0001a0001c0004a0007c0013others(2): Show | a0001c0001t0001a0001c0004t0001a0007c0013t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0015others(58): Show | 79 | 380 | 0.2079 | -5 | c.194 others(24): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 11/16 | chr9 | TogoVar | ||||||
CIZ1_chr9_128161065_128196572 | 128189824 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp1 HG01258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0234others(3): Show | 6 | 380 | 0.0158 | -5 | c.286 others(20): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 3/16 | chr9 | TogoVar | ||||||
CKAP2L_chr2_112731349_112769609 | 112747365 | CTAGAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(155): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0010a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(103): Show | 158 | 300 | 0.5267 | -5 | c.160 others(22): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46742379 | CTTCTT | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01257.hp1 HG03710.hp2 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0003a0001c0013t0003 | a0001c0002t0003g0132a0001c0002t0003g0139a0001c0013t0003g0131 | 3 | 294 | 0.0102 | -5 | c.*16 others(16): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 668 | chr11 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46742433 | CTGGAG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(152): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(150): Show | 155 | 294 | 0.5272 | -5 | c.*15 others(16): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 614 | chr11 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46743734 | AAAAAG | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(165): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(163): Show | 168 | 294 | 0.5714 | -5 | c.*28 others(14): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 44/44 | 284 | chr11 | TogoVar | |||||
CKMT1A_chr15_43688859_43704222 | 43701946 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG01981.hp2 HG02615.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0021others(1): Show | 17 | 392 | 0.0434 | -5 | c.*28 others(16): Show |
CKMT1A | ENSG00000223572.10 | transcript | ENST00000413453.7 | protein_coding | 2725 | chr15 | TogoVar | ||||||
CKMT2_chr5_81228322_81271398 | 81244847 | ATTTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01993.hp1 HG02004.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0156others(4): Show | 10 | 356 | 0.0281 | -5 | c.-20 others(22): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CKMT2_chr5_81228322_81271398 | 81266623 | TTAATA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0015others(65): Show | 86 | 356 | 0.2416 | -5 | c.*36 others(14): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 226 | chr5 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121470293 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(21): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0035others(3): Show | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0106others(21): Show | 24 | 214 | 0.1122 | -5 | c.713 others(20): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478843 | ACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0015a0001c0002t0021a0001c0002t0030others(1): Show | a0001c0002t0015g0143a0001c0002t0015g0144a0001c0002t0021g0130others(4): Show | 7 | 214 | 0.0327 | -5 | c.713 others(22): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121500474 | GAAGAA | G | intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 HG03195.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0032a0002c0003t0033 | a0002c0003t0032g0141a0002c0003t0032g0208a0002c0003t0033g0170others(1): Show | 4 | 214 | 0.0187 | -5 | c.712 others(22): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121517858 | CTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01074.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0034others(2): Show | a0001c0001t0002g0105a0001c0001t0002g0106a0001c0001t0002g0110others(14): Show | 17 | 214 | 0.0794 | -5 | c.547 others(22): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 6/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121578422 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp1 others(78): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0008others(35): Show | a0001c0002t0005g0146a0001c0002t0005g0147a0001c0002t0005g0148others(78): Show | 81 | 214 | 0.3785 | -5 | c.195 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33570158 | ACATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(82): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(8): Show | a0001c0001t0002g0008a0001c0001t0002g0018a0001c0001t0002g0019others(82): Show | 85 | 278 | 0.3058 | -5 | c.276 others(22): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 26/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33657518 | GAAATA | G | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02922.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0017 | a0001c0001t0001g0151a0001c0001t0001g0159a0001c0001t0001g0160others(6): Show | 9 | 278 | 0.0324 | -5 | c.715 others(22): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 7/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33681144 | ATAAAG | A | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0015 | a0001c0001t0003a0001c0006t0002a0001c0015t0002 | a0001c0001t0003g0211a0001c0006t0002g0208a0001c0006t0002g0209others(2): Show | 5 | 278 | 0.0180 | -5 | c.644 others(22): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 6/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33693835 | AAGAAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0272a0001c0001t0005g0273a0001c0001t0005g0274others(4): Show | 7 | 278 | 0.0252 | -5 | c.274 others(22): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 2/38 | chr3 | TogoVar | ||||||
CLASRP_chr19_45034045_45075956 | 45062009 | AAGGGG | A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0177others(2): Show | 5 | 364 | 0.0137 | -5 | c.864 others(20): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLCA1_chr1_86463927_86505259 | 86465734 | GTGGAA | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp2 others(67): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(12): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0192others(60): Show | 70 | 440 | 0.1591 | -5 | c.-32 others(16): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 3192 | chr1 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108936085 | GTTTTT | G | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02630.hp2 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0039 | a0002c0003t0003g0016a0002c0003t0003g0140a0002c0003t0003g0201others(6): Show | 11 | 394 | 0.0279 | -5 | c.138 others(22): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 11/12 | chr1 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108965331 | ATTTGT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(158): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(111): Show | 161 | 394 | 0.4086 | -5 | c.-21 others(16): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 1848 | chr1 | TogoVar | ||||||
CLCF1_chr11_67359168_67378598 | 67368912 | CTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01070.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0035others(3): Show | 28 | 308 | 0.0909 | -5 | c.17- others(20): Show |
CLCF1 | ENSG00000175505.11 | transcript | ENST00000312438.8 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
CLCN1_chr7_143311111_143357083 | 143337807 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(90): Show |
a0001a0003a0011 | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0036others(88): Show | 93 | 414 | 0.2246 | -5 | c.140 others(24): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169630100 | TTGTAA | T | intron_variant | MODIFIER | HG01346.hp1 HG01516.hp2 HG01517.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0011a0001c0001t0012a0001c0001t0015others(11): Show | a0001c0001t0011g0191a0001c0001t0011g0192a0001c0001t0011g0193others(37): Show | 43 | 288 | 0.1493 | -5 | c.-16 others(22): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CLCN3_chr4_169615578_169728673 | 169632199 | GATCCA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(94): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0019others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(93): Show | 97 | 288 | 0.3368 | -5 | c.-16 others(22): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CLCN3_chr4_169615578_169728673 | 169658239 | TATATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0042a0001c0002t0002a0001c0002t0008others(7): Show | a0001c0001t0042g0268a0001c0002t0002g0004a0001c0002t0002g0032others(62): Show | 67 | 288 | 0.2326 | -5 | c.161 others(24): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
CLCN3_chr4_169615578_169728673 | 169663315 | TTGTTG | T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01358.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0004a0001c0003t0020others(3): Show | a0001c0002t0008g0204a0001c0003t0004g0033a0001c0003t0004g0034others(19): Show | 22 | 288 | 0.0764 | -5 | c.161 others(24): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169682215 | TATATA | T | intron_variant | MODIFIER | HG03139.hp1 HG03579.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0033a0001c0001t0045a0001c0003t0003 | a0001c0001t0033g0279a0001c0001t0045g0280a0001c0003t0003g0277 | 3 | 288 | 0.0104 | -5 | c.318 others(22): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10153129 | ATATGT | A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0015 | a0001c0002t0002g0029a0001c0002t0004g0031a0001c0002t0004g0036others(2): Show | 5 | 264 | 0.0189 | -5 | c.-42 others(16): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3845 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10169776 | TTTTTC | T | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0129 | 1 | 264 | 0.0038 | -5 | c.-12 others(24): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10180767 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01123.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(29): Show | 33 | 264 | 0.1250 | -5 | c.-11 others(22): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10191692 | ATTTTT | A | intron_variant | MODIFIER | HG01346.hp2 HG02602.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0040a0001c0002t0004a0001c0002t0039 | a0001c0001t0040g0156a0001c0002t0004g0046a0001c0002t0039g0155 | 3 | 264 | 0.0114 | -5 | c.245 others(22): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10202638 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp1 others(94): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(93): Show | 97 | 264 | 0.3674 | -5 | c.556 others(22): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10211265 | CAAAAA | C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0037 | 1 | 264 | 0.0038 | -5 | c.139 others(24): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10239513 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0002g0097a0001c0001t0002g0105a0001c0001t0002g0135others(4): Show | 7 | 264 | 0.0265 | -5 | c.*59 others(16): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 1854 | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 49940077 | TTCAAA | T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 175 | 0.0057 | -5 | c.16+ others(22): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 49942173 | TTGTTG | T | intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0019 | a0003c0008t0019g0039 | 1 | 175 | 0.0057 | -5 | c.16+ others(22): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50066175 | AAAAAG | A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0132 | 1 | 175 | 0.0057 | -5 | c.164 others(22): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50077812 | CAAAAA | C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 175 | 0.0057 | -5 | c.603 others(22): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50084275 | AAATAT | A | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | 175 | 0.0114 | -5 | c.934 others(22): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN6_chr1_11801191_11848130 | 11830732 | ATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG02132.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186a0001c0001t0005g0187a0001c0001t0005g0188others(2): Show | 5 | 290 | 0.0172 | -5 | c.124 others(24): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCN7_chr16_1439935_1480028 | 1462365 | CTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0019 | a0001c0002t0003a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0002t0003g0127a0001c0003t0002g0288a0001c0003t0002g0295others(3): Show | 7 | 404 | 0.0173 | -5 | c.214 others(20): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 2/24 | chr16 | TogoVar | ||||||
CLCNKB_chr1_16038782_16062308 | 16043932 | CGGGGG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(180): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0030a0001c0031others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(75): Show | 183 | 428 | 0.4276 | -5 | c.-8+ others(16): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLC_chr19_39726255_39743029 | 39730042 | TTACTC | T | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0019 | 3 | 442 | 0.0068 | -5 | c.*13 others(16): Show |
CLC | ENSG00000105205.7 | transcript | ENST00000221804.5 | protein_coding | 1212 | chr19 | TogoVar | ||||||
CLC_chr19_39726255_39743029 | 39736774 | CAAAAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0034a0001c0001t0001g0035others(1): Show | 8 | 442 | 0.0181 | -5 | c.15+ others(20): Show |
CLC | ENSG00000105205.7 | transcript | ENST00000221804.5 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
CLDN11_chr3_170413868_170439691 | 170424034 | AAAAAG | A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(1): Show | a0001c0001t0005g0143a0001c0001t0011g0028a0001c0001t0011g0050others(3): Show | 7 | 408 | 0.0172 | -5 | c.391 others(20): Show |
CLDN11 | ENSG00000013297.12 | transcript | ENST00000064724.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLDN14_chr21_36455621_36485122 | 36468763 | CTTTCT | C | intron_variant | MODIFIER | HG01361.hp2 HG01943.hp1 HG02148.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0063a0001c0006t0001g0016a0001c0006t0001g0064 | 6 | 424 | 0.0142 | -5 | c.-81 others(22): Show |
CLDN14 | ENSG00000159261.12 | transcript | ENST00000399135.6 | protein_coding | 1/1 | chr21 | TogoVar | ||||||
CLDN20_chr6_155259013_155281548 | 155269304 | GTTTTC | G | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004 | a0001c0003t0003g0019a0001c0003t0003g0064a0001c0003t0004g0060 | 5 | 384 | 0.0130 | -5 | c.-10 others(24): Show |
CLDN20 | ENSG00000171217.5 | transcript | ENST00000367165.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CLDN2_chrX_106915402_106935861 | 106926926 | CACACA | C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 255 | 0.0039 | -5 | c.-17 others(24): Show |
CLDN2 | ENSG00000165376.12 | transcript | ENST00000336803.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar |