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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIPC_chr14_77093258_77122287 | 77097845 | A | AACGGCGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0017 others(14): Show |
72 | 426 | 0.1690 | 8 | c.-56 others(17): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 412 | chr14 | TogoVar | |||||||
CISD1_chr10_58264162_58294586 | 58271041 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(5): Show |
20 | 386 | 0.0518 | 8 | c.31+ others(23): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CISD1_chr10_58264162_58294586 | 58271043 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01123.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0010 a0001c0001t0002g0047 a0001c0001t0002g0094 others(4): Show |
12 | 386 | 0.0311 | 8 | c.31+ others(23): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102893281 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013 | a0001c0001t0002g0005 a0001c0001t0003g0002 a0001c0001t0003g0011 others(2): Show |
12 | 354 | 0.0339 | 8 | c.*58 others(19): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 475 | chr4 | TogoVar | |||||||
CISH_chr3_50601489_50616774 | 50614500 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 HG02040.hp1 HG02273.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0004g0007 others(2): Show |
14 | 360 | 0.0389 | 8 | c.-28 others(19): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 2727 | chr3 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119702882 | T | TATGCAGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(16): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0005a0001c0006others(5): Show | a0001c0002t0014a0001c0005t0008a0001c0006t0027others(5): Show | a0001c0002t0014g0236 a0001c0005t0008g0021 a0001c0005t0008g0022 others(16): Show |
19 | 236 | 0.0805 | 8 | c.530 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119717831 | C | CTGACTTC others(1): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19043.hp1 |
a0001a0009 | a0001c0006a0009c0032 | a0001c0006t0027a0009c0032t0001 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | 236 | 0.0085 | 8 | c.416 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119726011 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02622.hp1 others(3): Show |
a0002a0005 | a0002c0004a0005c0018 | a0002c0004t0003a0002c0004t0011a0005c0018t0006 | a0002c0004t0003g0044 a0002c0004t0011g0035 a0002c0004t0011g0038 others(3): Show |
6 | 236 | 0.0254 | 8 | c.359 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119750748 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03688.hp1 NA18969.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0004g0168 others(1): Show |
4 | 236 | 0.0170 | 8 | c.290 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119794270 | G | GTGAATGA others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG06807.hp2 |
a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0030 a0001c0007t0005g0062 |
2 | 236 | 0.0085 | 8 | c.129 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119845943 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02056.hp1 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0028a0002c0004 | a0001c0002t0002a0001c0002t0013a0001c0028t0003others(3): Show | a0001c0002t0002g0096 a0001c0002t0013g0071 a0001c0028t0003g0229 others(7): Show |
10 | 236 | 0.0424 | 8 | c.516 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(4): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0007others(2): Show | a0001c0003t0003a0001c0005t0010a0001c0005t0022others(3): Show | a0001c0003t0003g0037 a0001c0005t0010g0042 a0001c0005t0022g0041 others(4): Show |
7 | 236 | 0.0297 | 8 | c.239 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119879117 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
a0001a0005 | a0001c0035a0005c0018 | a0001c0035t0003a0005c0018t0006 | a0001c0035t0003g0007 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | 236 | 0.0127 | 8 | c.-18 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1798 | chr12 | TogoVar | |||||||
CKAP2L_chr2_112731349_112769609 | 112734169 | A | ATATGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(36): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0007 | a0001c0001t0001a0001c0001t0019a0001c0001t0024others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(21): Show |
39 | 300 | 0.1300 | 8 | c.*46 others(19): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 2179 | chr2 | TogoVar | |||||||
CKAP2_chr13_52450478_52481627 | 52452963 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01099.hp2 HG03017.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 others(4): Show |
7 | 406 | 0.0172 | 8 | c.-25 others(19): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2514 | chr13 | TogoVar | |||||||
CKAP4_chr12_106232881_106253020 | 106237526 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01167.hp2 others(10): Show |
a0001a0007 | a0001c0003a0007c0012 | a0001c0003t0001a0001c0003t0004a0007c0012t0004 | a0001c0003t0001g0009 a0001c0003t0001g0042 a0001c0003t0004g0005 others(2): Show |
13 | 418 | 0.0311 | 8 | c.*14 others(19): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 354 | chr12 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752161 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01496.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0226 others(3): Show |
6 | 294 | 0.0204 | 8 | c.513 others(25): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46802553 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01981.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0120 a0001c0002t0003g0122 a0001c0002t0003g0124 others(1): Show |
4 | 294 | 0.0136 | 8 | c.979 others(25): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 8/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46802553 | G | GAGACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 a0001c0002t0003g0118 a0001c0002t0003g0119 others(18): Show |
22 | 294 | 0.0748 | 8 | c.979 others(25): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 8/43 | chr11 | TogoVar | |||||||
CKLF_chr16_66547576_66571068 | 66560798 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02027.hp1 HG03927.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0095 |
6 | 392 | 0.0153 | 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 | 81250940 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0049 |
7 | 356 | 0.0197 | 8 | c.-20 others(23): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CKMT2_chr5_81228322_81271398 | 81257141 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0020 a0001c0001t0001g0060 a0001c0001t0001g0080 others(1): Show |
5 | 356 | 0.0140 | 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 | 121339131 | C | CCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG00741.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0027a0001c0001t0028a0001c0001t0071others(4): Show | a0001c0001t0027g0098 a0001c0001t0027g0099 a0001c0001t0028g0031 others(14): Show |
17 | 214 | 0.0794 | 8 | c.*17 others(19): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 41/41 | 1729 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121457454 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | NA18975.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0123 a0001c0001t0007g0124 |
2 | 214 | 0.0094 | 8 | c.138 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 14/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121457458 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03486.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0021a0001c0002t0046 | a0001c0002t0021g0130 a0001c0002t0021g0206 a0001c0002t0046g0194 |
3 | 214 | 0.0140 | 8 | c.138 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 14/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121478715 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00673.hp2 others(25): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0027others(6): Show | a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 others(25): Show |
28 | 214 | 0.1308 | 8 | c.713 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121498201 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02109.hp1 others(23): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0001c0002t0008a0001c0002t0010others(11): Show | a0001c0002t0006g0163 a0001c0002t0006g0164 a0001c0002t0006g0165 others(23): Show |
26 | 214 | 0.1215 | 8 | c.712 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121500344 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 HG01981.hp2 others(11): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0028others(7): Show | a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0086 others(11): Show |
14 | 214 | 0.0654 | 8 | c.712 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121549706 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01175.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0002a0001c0002t0006a0001c0002t0008others(12): Show | a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0002t0006g0162 others(18): Show |
21 | 214 | 0.0981 | 8 | c.196 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121581260 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01346.hp1 HG01496.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0002t0005a0001c0002t0006others(9): Show | a0001c0001t0044g0005 a0001c0002t0005g0146 a0001c0002t0005g0159 others(14): Show |
17 | 214 | 0.0794 | 8 | c.195 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121630381 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006a0001c0002t0055 | a0001c0002t0005g0148 a0001c0002t0005g0159 a0001c0002t0005g0160 others(2): Show |
5 | 214 | 0.0234 | 8 | c.-28 others(29): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33645929 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02080.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0129 a0001c0001t0001g0167 |
3 | 278 | 0.0108 | 8 | c.716 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 7/38 | chr3 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33667406 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01891.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0239 a0001c0001t0002g0244 a0001c0001t0003g0051 others(6): Show |
9 | 278 | 0.0324 | 8 | c.645 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 6/38 | chr3 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33674459 | T | TTTATAGC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0004t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(7): Show |
10 | 278 | 0.0360 | 8 | c.644 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 6/38 | chr3 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33695220 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01071.hp2 others(20): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0235 others(20): Show |
23 | 278 | 0.0827 | 8 | c.274 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 2/38 | chr3 | TogoVar | |||||||
CLASRP_chr19_45034045_45075956 | 45043195 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00733.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0055 a0001c0001t0001g0265 others(26): Show |
29 | 364 | 0.0797 | 8 | c.99+ others(23): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLCA1_chr1_86463927_86505259 | 86486017 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02074.hp1 HG02258.hp1 others(12): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0236 a0001c0001t0001g0311 a0001c0001t0002g0230 others(10): Show |
15 | 440 | 0.0341 | 8 | c.954 others(23): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLCA1_chr1_86463927_86505259 | 86498155 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(117): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0044 a0001c0001t0001g0322 a0001c0001t0002g0001 others(91): Show |
120 | 440 | 0.2727 | 8 | c.211 others(25): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLCA2_chr1_86419171_86461553 | 86427547 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG03041.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0010 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0136 a0001c0001t0005g0092 a0001c0002t0001g0095 others(2): Show |
5 | 414 | 0.0121 | 8 | c.325 others(23): Show |
CLCA2 | ENSG00000137975.8 | transcript | ENST00000370565.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108954817 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01109.hp1 others(13): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0004others(1): Show | a0001c0002t0005a0002c0003t0003a0002c0003t0004others(5): Show | a0001c0002t0005g0136 a0002c0003t0003g0140 a0002c0003t0003g0232 others(12): Show |
16 | 394 | 0.0406 | 8 | c.-11 others(25): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CLCN1_chr7_143311111_143357083 | 143338415 | G | GATGGTTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00733.hp1 others(33): Show |
a0002 | a0002c0002a0002c0005a0002c0018others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(3): Show | a0002c0002t0001g0037 a0002c0002t0001g0067 a0002c0002t0001g0098 others(31): Show |
36 | 414 | 0.0870 | 8 | c.140 others(25): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLCN1_chr7_143311111_143357083 | 143343705 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00642.hp1 others(75): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0006a0001c0008others(11): Show | a0001c0003t0001a0001c0006t0001a0001c0008t0001others(13): Show | a0001c0003t0001g0086 a0001c0003t0001g0095 a0001c0003t0001g0132 others(68): Show |
78 | 414 | 0.1884 | 8 | c.193 others(27): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLCN3_chr4_169615578_169728673 | 169672220 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00733.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 others(40): Show |
45 | 288 | 0.1563 | 8 | c.161 others(25): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10153138 | T | TATATATA others(1): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0181 | 1 | 264 | 0.0038 | 8 | c.-42 others(19): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3836 | chrX | TogoVar | |||||||
CLCN4_chrX_10151975_10242660 | 10161124 | G | GCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0199 others(47): Show |
50 | 264 | 0.1894 | 8 | c.-12 others(25): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10196538 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18943.hp1 NA19076.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0013 | a0001c0001t0001g0015 a0001c0001t0003g0020 a0001c0002t0013g0035 |
3 | 264 | 0.0114 | 8 | c.433 others(25): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10204613 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0185 a0001c0001t0004g0092 a0001c0001t0004g0093 |
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 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0016 a0001c0001t0001g0154 a0001c0001t0001g0197 others(57): Show |
60 | 264 | 0.2273 | 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 | 10212837 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02723.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0062 a0001c0001t0008g0037 a0001c0001t0008g0055 others(1): Show |
4 | 264 | 0.0152 | 8 | c.157 others(25): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10216879 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0002g0135 a0001c0001t0007g0107 a0001c0001t0008g0095 others(7): Show |
10 | 264 | 0.0379 | 8 | c.197 others(27): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar |