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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIT_chr12_119680791_119882320 | 119774558 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(108): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(108): Show | 111 | 236 | 0.4703 | -8 | c.194 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119815105 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0013a0001c0015a0002c0004 | a0001c0013t0005a0001c0015t0006a0002c0004t0003others(3): Show | a0001c0013t0005g0029a0001c0015t0006g0004a0002c0004t0003g0044others(10): Show | 13 | 236 | 0.0551 | -8 | c.111 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119824108 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02015.hp2 HG02027.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0047a0001c0001t0002g0188a0001c0001t0004g0161others(15): Show | 18 | 236 | 0.0763 | -8 | c.957 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119842388 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0005a0001c0005t0008a0001c0007t0005others(3): Show | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(4): Show | 7 | 236 | 0.0297 | -8 | c.516 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | TogoVar | ||||||
CIZ1_chr9_128161065_128196572 | 128183748 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02040.hp1 HG02074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0277others(7): Show | 11 | 380 | 0.0290 | -8 | c.588 others(25): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 5/16 | chr9 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46796164 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(102): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0016others(100): Show | 105 | 294 | 0.3571 | -8 | c.146 others(25): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 12/43 | chr11 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46829838 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01167.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0003others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0028others(31): Show | 34 | 294 | 0.1157 | -8 | c.-37 others(25): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 1/43 | chr11 | TogoVar | ||||||
CKLF_chr16_66547576_66571068 | 66560798 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01433.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0048others(3): Show | 23 | 392 | 0.0587 | -8 | c.238 others(25): Show |
CKLF | ENSG00000217555.13 | transcript | ENST00000264001.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CKMT2_chr5_81228322_81271398 | 81257141 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02615.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0183a0001c0001t0002g0035a0001c0001t0002g0044others(6): Show | 10 | 356 | 0.0281 | -8 | c.755 others(23): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CLASP1_chr2_121332776_121654462 | 121479029 | CACCCCAC others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 NA18947.hp1 NA18984.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0007a0003c0005t0002 | a0001c0001t0007g0119a0001c0001t0007g0120a0001c0001t0007g0121others(3): Show | 6 | 214 | 0.0280 | -8 | c.713 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121492389 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(28): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0027others(7): Show | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0106others(28): Show | 31 | 214 | 0.1449 | -8 | c.712 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121500344 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp2 HG00741.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0036a0001c0001t0001g0040others(19): Show | 22 | 214 | 0.1028 | -8 | c.712 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121517820 | CACCACAC others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0040a0001c0002t0056a0001c0002t0065others(1): Show | a0001c0002t0040g0153a0001c0002t0056g0151a0001c0002t0065g0150others(1): Show | 4 | 214 | 0.0187 | -8 | c.547 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 6/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121555988 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01070.hp1 others(16): Show |
a0001a0004a0006 | a0001c0002a0004c0004a0006c0007 | a0001c0002t0013a0001c0002t0014a0001c0002t0015others(10): Show | a0001c0002t0013g0131a0001c0002t0013g0132a0001c0002t0013g0133others(16): Show | 19 | 214 | 0.0888 | -8 | c.196 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33512557 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | NA18951.hp1 NA18968.hp1 NA18969.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0099a0001c0001t0001g0100others(3): Show | 6 | 278 | 0.0216 | -8 | c.411 others(27): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 36/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33520820 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(54): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0017a0003c0009others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0212a0001c0001t0002g0222a0001c0001t0002g0232others(54): Show | 57 | 278 | 0.2050 | -8 | c.378 others(27): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 34/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33620997 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02148.hp2 HG02622.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0124a0001c0001t0001g0132a0001c0001t0001g0155others(14): Show | 17 | 278 | 0.0612 | -8 | c.118 others(27): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 11/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33645929 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(59): Show |
a0001a0003a0005 | a0001c0001a0001c0012a0003c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0008a0001c0001t0002g0022a0001c0001t0002g0052others(59): Show | 62 | 278 | 0.2230 | -8 | c.716 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 7/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33708498 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | NA18951.hp1 NA18952.hp2 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0194a0001c0001t0003g0029a0001c0001t0003g0030others(1): Show | 4 | 278 | 0.0144 | -8 | c.195 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | ||||||
CLBA1_chr14_104980788_105000516 | 104987606 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp1 others(91): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0055a0001c0001t0002g0002a0001c0001t0002g0013others(31): Show | 94 | 444 | 0.2117 | -8 | c.423 others(23): Show |
CLBA1 | ENSG00000140104.14 | transcript | ENST00000547315.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CLCA1_chr1_86463927_86505259 | 86498155 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 HG02976.hp1 others(1): Show |
a0008 | a0008c0015a0008c0027 | a0008c0015t0001a0008c0027t0001 | a0008c0015t0001g0015a0008c0015t0001g0050a0008c0027t0001g0282 | 4 | 440 | 0.0091 | -8 | c.211 others(25): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCA1_chr1_86463927_86505259 | 86498181 | AGGAAGGA others(1): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01361.hp2 others(25): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0126a0001c0001t0001g0238others(18): Show | 28 | 440 | 0.0636 | -8 | c.211 others(25): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCC1_chr1_108924505_108968484 | 108966767 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02647.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0011 | a0001c0001t0001g0063a0001c0001t0001g0149a0001c0002t0001g0049others(4): Show | 8 | 394 | 0.0203 | -8 | c.-35 others(19): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 3284 | chr1 | TogoVar | ||||||
CLCN1_chr7_143311111_143357083 | 143337492 | CAGCCCTG others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02109.hp1 others(4): Show |
a0001a0002a0012 | a0001c0006a0002c0002a0002c0005others(2): Show | a0001c0006t0001a0002c0002t0001a0002c0005t0001others(2): Show | a0001c0006t0001g0063a0002c0002t0001g0027a0002c0005t0001g0060others(4): Show | 7 | 414 | 0.0169 | -8 | c.140 others(27): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10153125 | ATATATAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02735.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0027a0001c0001t0014g0005 | 2 | 264 | 0.0076 | -8 | c.-42 others(19): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3849 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10153138 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0014others(5): Show | 8 | 264 | 0.0303 | -8 | c.-42 others(19): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3836 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10153177 | ATATATAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0034 | 1 | 264 | 0.0038 | -8 | c.-41 others(19): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3797 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10153867 | CCAGGAGC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(47): Show | 51 | 264 | 0.1932 | -8 | c.-35 others(19): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3107 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10154446 | AAAATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG03017.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | 264 | 0.0076 | -8 | c.-29 others(19): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2528 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10154448 | AATATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 264 | 0.0038 | -8 | c.-29 others(19): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2526 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10191692 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0077 | 1 | 264 | 0.0038 | -8 | c.245 others(25): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10202638 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 HG03139.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0130a0001c0001t0005g0060a0001c0001t0005g0143others(6): Show | 9 | 264 | 0.0341 | -8 | c.556 others(25): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10204613 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0149a0001c0001t0005g0150a0001c0002t0004g0049 | 3 | 264 | 0.0114 | -8 | c.556 others(25): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10209267 | TCCTCCCT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0002g0094a0001c0001t0002g0096a0001c0001t0002g0097others(4): Show | 7 | 264 | 0.0265 | -8 | c.138 others(25): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10239513 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0063 | 1 | 264 | 0.0038 | -8 | c.*59 others(19): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 1854 | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 49972112 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0032a0001c0001t0001g0047a0001c0001t0001g0076others(20): Show | 23 | 175 | 0.1314 | -8 | c.16+ others(25): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50077594 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02809.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0004others(1): Show | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0002t0004g0002others(3): Show | 6 | 175 | 0.0343 | -8 | c.603 others(25): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50077812 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0003 | a0001c0001t0004g0169a0001c0003t0003g0018a0001c0003t0003g0162 | 3 | 175 | 0.0171 | -8 | c.603 others(25): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN6_chr1_11801191_11848130 | 11808227 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02572.hp1 others(8): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0013 | a0001c0001t0001a0001c0001t0008a0001c0003t0004others(1): Show | a0001c0001t0001g0162a0001c0001t0008g0161a0001c0003t0004g0056others(8): Show | 11 | 290 | 0.0379 | -8 | c.147 others(25): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCN6_chr1_11801191_11848130 | 11812664 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01258.hp2 others(35): Show |
a0001a0008a0010 | a0001c0001a0008c0012a0010c0009 | a0001c0001t0001a0001c0001t0019a0001c0001t0026others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0017others(27): Show | 38 | 290 | 0.1310 | -8 | c.148 others(25): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCN7_chr16_1439935_1480028 | 1462365 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp2 others(43): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0001c0007others(4): Show | a0001c0003t0003a0001c0005t0001a0001c0005t0004others(14): Show | a0001c0003t0003g0303a0001c0005t0001g0179a0001c0005t0001g0183others(41): Show | 46 | 404 | 0.1139 | -8 | c.214 others(23): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 2/24 | chr16 | TogoVar | ||||||
CLCNKA_chr1_16017036_16039050 | 16037991 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01074.hp1 others(29): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0001c0012others(6): Show | a0001c0001t0001a0001c0005t0006a0001c0012t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0044others(13): Show | 32 | 392 | 0.0816 | -8 | c.*43 others(19): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 3942 | chr1 | TogoVar | ||||||
CLCNKB_chr1_16038782_16062308 | 16047445 | GAAACAAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0030a0001c0031others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(64): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 359 | 428 | 0.8388 | -8 | c.359 others(23): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLC_chr19_39726255_39743029 | 39741898 | TTCTATTG others(1): Show |
T | upstream_gene_variant | MODIFIER | NA18954.hp2 NA18966.hp2 NA18972.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0060 | 6 | 442 | 0.0136 | -8 | c.-39 others(19): Show |
CLC | ENSG00000105205.7 | transcript | ENST00000221804.5 | protein_coding | 3870 | chr19 | TogoVar | ||||||
CLDN10_chr13_95547720_95584759 | 95563095 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0025a0001c0001t0001g0172a0001c0001t0001g0210others(4): Show | 9 | 400 | 0.0225 | -8 | c.464 others(25): Show |
CLDN10 | ENSG00000134873.10 | transcript | ENST00000299339.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLDN12_chr7_90398461_90420954 | 90399928 | CCAATGGA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002a0001c0001t0005g0002a0001c0001t0005g0042 | 8 | 414 | 0.0193 | -8 | c.-37 others(19): Show |
CLDN12 | ENSG00000157224.16 | transcript | ENST00000496677.6 | protein_coding | 3532 | chr7 | TogoVar | ||||||
CLDN14_chr21_36455621_36485122 | 36482328 | AGATGGAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(105): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010others(42): Show | 108 | 424 | 0.2547 | -8 | c.-29 others(19): Show |
CLDN14 | ENSG00000159261.12 | transcript | ENST00000399135.6 | protein_coding | 2207 | chr21 | TogoVar | ||||||
CLDN14_chr21_36455621_36485122 | 36482363 | TAGACTGA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01109.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0063a0001c0001t0002g0002others(17): Show | 33 | 424 | 0.0778 | -8 | c.-29 others(19): Show |
CLDN14 | ENSG00000159261.12 | transcript | ENST00000399135.6 | protein_coding | 2242 | chr21 | TogoVar | ||||||
CLDN15_chr7_101227094_101242802 | 101228088 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0042 | 6 | 402 | 0.0149 | -8 | c.*43 others(19): Show |
CLDN15 | ENSG00000106404.14 | transcript | ENST00000308344.10 | protein_coding | 4005 | chr7 | TogoVar | ||||||
CLDN19_chr1_42728093_42745236 | 42729417 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG01496.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0021 | 10 | 428 | 0.0234 | -8 | c.*56 others(19): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3675 | chr1 | TogoVar |