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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIRBP_chr19_1264332_1279810 | 1272482 | GTGTTTAA others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 280 | 0.0036 | -12 | c.*40 others(19): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 6/6 | 40 | chr19 | TogoVar | |||||
CIRBP_chr19_1264332_1279810 | 1275917 | CCCCTCCC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 280 | 0.0179 | -12 | c.*34 others(23): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 1108 | chr19 | TogoVar | ||||||
CIROP_chr14_23094062_23109989 | 23094113 | CACACACA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 450 | 0.0022 | -12 | c.*51 others(23): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 4948 | chr14 | TogoVar | ||||||
CISH_chr3_50601489_50616774 | 50602052 | GCGCACAC others(5): Show |
G | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 360 | 0.0028 | -12 | c.*55 others(23): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 4436 | chr3 | TogoVar | ||||||
CISH_chr3_50601489_50616774 | 50602054 | GCACACAC others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(85): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0015others(12): Show | 88 | 360 | 0.2444 | -12 | c.*55 others(23): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 4434 | chr3 | TogoVar | ||||||
CISH_chr3_50601489_50616774 | 50614500 | AGTGTGTG others(5): Show |
A | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 360 | 0.0028 | -12 | c.-28 others(23): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 2727 | chr3 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119689666 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02717.hp1 HG02809.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0001c0030others(2): Show | a0001c0001t0005a0001c0013t0005a0001c0030t0005others(2): Show | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032others(5): Show | 8 | 236 | 0.0339 | -12 | c.618 others(29): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119705771 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(35): Show |
a0001a0002a0004 | a0001c0005a0001c0007a0001c0009others(5): Show | a0001c0005t0008a0001c0005t0010a0001c0005t0022others(10): Show | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(35): Show | 38 | 236 | 0.1610 | -12 | c.521 others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119709787 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 HG03688.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0019 | a0001c0002t0002a0001c0003t0003a0001c0003t0005others(1): Show | a0001c0002t0002g0066a0001c0003t0003g0193a0001c0003t0005g0186others(1): Show | 4 | 236 | 0.0170 | -12 | c.507 others(29): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119716378 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0038 | 1 | 236 | 0.0042 | -12 | c.416 others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119717838 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 236 | 0.0042 | -12 | c.416 others(29): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119737306 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0181a0001c0002t0002g0102 | 2 | 236 | 0.0085 | -12 | c.295 others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119750748 | TATAGATA others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0006a0001c0003t0003others(2): Show | a0001c0001t0001g0122a0001c0001t0001g0195a0001c0001t0006g0116others(5): Show | 8 | 236 | 0.0339 | -12 | c.290 others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119824108 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01106.hp2 others(62): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0049others(62): Show | 65 | 236 | 0.2754 | -12 | c.957 others(29): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | TogoVar | ||||||
CIZ1_chr9_128161065_128196572 | 128172147 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 380 | 0.0026 | -12 | c.194 others(31): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 11/16 | chr9 | TogoVar | ||||||
CIZ1_chr9_128161065_128196572 | 128183748 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 380 | 0.0026 | -12 | c.588 others(29): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 5/16 | chr9 | TogoVar | ||||||
CKAP2L_chr2_112731349_112769609 | 112764857 | CTGAGTGC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0006a0001c0004t0016 | a0001c0001t0001g0123a0001c0004t0006g0007a0001c0004t0006g0133others(3): Show | 9 | 300 | 0.0300 | -12 | c.-27 others(21): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 249 | chr2 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52455635 | CGCGGTGG others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01361.hp1 others(14): Show |
a0001a0012 | a0001c0001a0001c0004a0012c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0149a0001c0001t0001g0150others(8): Show | 17 | 406 | 0.0419 | -12 | c.70+ others(23): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CKAP2_chr13_52450478_52481627 | 52465930 | CACACATA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03486.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0151a0003c0005t0001g0152a0003c0005t0001g0163others(1): Show | 4 | 406 | 0.0099 | -12 | c.147 others(29): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CKAP2_chr13_52450478_52481627 | 52465955 | GCACACAT others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp1 NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0218 | 3 | 406 | 0.0074 | -12 | c.147 others(29): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CKAP4_chr12_106232881_106253020 | 106247671 | TCTGCGGG others(5): Show |
T | conservative_inframe_deletion | MODERATE | HG01167.hp2 HG01169.hp1 |
a0009 | a0009c0012 | a0009c0012t0004 | a0009c0012t0004g0031 | 2 | 418 | 0.0048 | -12 | c.169 others(19): Show |
p.Gln others(11): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 1/2 | 349/3121 | 169/1809 | 57/602 | chr12 | TogoVar | ||
CKAP5_chr11_46738048_46851280 | 46752161 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0232a0001c0002t0003g0122 | 2 | 294 | 0.0068 | -12 | c.513 others(29): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46829838 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0004t0002a0001c0007t0001 | a0001c0001t0001g0240a0001c0001t0001g0277a0001c0001t0001g0282others(5): Show | 8 | 294 | 0.0272 | -12 | c.-37 others(29): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 1/43 | chr11 | TogoVar | ||||||
CKMT2_chr5_81228322_81271398 | 81250940 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 356 | 0.0028 | -12 | c.-20 others(27): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CKMT2_chr5_81228322_81271398 | 81254205 | CTTGTTGT others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153a0001c0001t0001g0164 | 2 | 356 | 0.0056 | -12 | c.352 others(27): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CKMT2_chr5_81228322_81271398 | 81257141 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01496.hp1 HG01891.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0144a0001c0001t0001g0177others(10): Show | 17 | 356 | 0.0478 | -12 | c.755 others(27): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CLASP1_chr2_121332776_121654462 | 121380511 | AAAGCAGC others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(87): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0008others(37): Show | a0001c0002t0005g0145a0001c0002t0005g0146a0001c0002t0005g0147others(87): Show | 90 | 214 | 0.4206 | -12 | c.355 others(31): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 34/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121470293 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02165.hp2 NA18947.hp2 |
a0001a0007 | a0001c0002a0007c0008 | a0001c0002t0009a0001c0002t0010a0007c0008t0048 | a0001c0002t0009g0177a0001c0002t0010g0192a0007c0008t0048g0069 | 3 | 214 | 0.0140 | -12 | c.713 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478893 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0010a0001c0002t0011others(6): Show | a0001c0002t0009g0177a0001c0002t0009g0178a0001c0002t0009g0187others(20): Show | 23 | 214 | 0.1075 | -12 | c.713 others(29): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121500344 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02622.hp1 others(7): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0007 | a0001c0001t0001a0001c0001t0018a0001c0001t0058others(6): Show | a0001c0001t0001g0037a0001c0001t0018g0042a0001c0001t0058g0010others(7): Show | 10 | 214 | 0.0467 | -12 | c.712 others(29): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121517858 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0004 | 1 | 214 | 0.0047 | -12 | c.547 others(29): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 6/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121555988 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0032a0001c0001t0004g0063 | 2 | 214 | 0.0094 | -12 | c.196 others(31): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121611122 | GAGGAGGA others(5): Show |
G | intron_variant | MODIFIER | HG02257.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0002t0050 | a0001c0001t0044g0005a0001c0002t0050g0004 | 2 | 214 | 0.0094 | -12 | c.-28 others(31): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121630381 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0135a0001c0002t0024g0136 | 2 | 214 | 0.0094 | -12 | c.-28 others(33): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121631158 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0004 | 1 | 214 | 0.0047 | -12 | c.-28 others(33): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121636338 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 214 | 0.0047 | -12 | c.-28 others(33): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33520820 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG02004.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0008 | a0001c0001t0003g0030a0001c0001t0003g0073a0001c0001t0003g0163others(3): Show | 6 | 278 | 0.0216 | -12 | c.378 others(31): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 34/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33620997 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01255.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0004t0002others(1): Show | a0001c0001t0001g0098a0001c0001t0003g0136a0001c0001t0003g0140others(7): Show | 10 | 278 | 0.0360 | -12 | c.118 others(31): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 11/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33645929 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02809.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0008t0001 | a0001c0001t0002g0057a0001c0001t0004g0172a0001c0008t0001g0004 | 3 | 278 | 0.0108 | -12 | c.716 others(29): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 7/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33708494 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(80): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0012a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0072others(80): Show | 83 | 278 | 0.2986 | -12 | c.195 others(29): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | ||||||
CLASRP_chr19_45034045_45075956 | 45043195 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 364 | 0.0028 | -12 | c.99+ others(27): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLASRP_chr19_45034045_45075956 | 45059956 | GCCTGGGC others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(138): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0001c0015others(4): Show | a0001c0001t0001a0001c0012t0001a0001c0015t0001others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(135): Show | 141 | 364 | 0.3874 | -12 | c.711 others(27): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLASRP_chr19_45034045_45075956 | 45067256 | CTGTGGAT others(5): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 364 | 0.0028 | -12 | c.141 others(27): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 13/20 | chr19 | TogoVar | ||||||
CLASRP_chr19_45034045_45075956 | 45067487 | GAGCCGCA others(5): Show |
G | disruptive_inframe_deletion | MODERATE | NA21309.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0110 | 1 | 364 | 0.0028 | -12 | c.157 others(21): Show |
p.Arg others(13): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 14/21 | 1670/2229 | 1577/2025 | 526/674 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CLCA1_chr1_86463927_86505259 | 86498177 | AGGAAGGA others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01433.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0025a0001c0001t0001g0319a0006c0010t0001g0053others(1): Show | 5 | 440 | 0.0114 | -12 | c.211 others(29): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCA4_chr1_86542078_86585754 | 86580212 | ATCCTACA others(5): Show |
A | disruptive_inframe_deletion | MODERATE | NA18906.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0017 | 1 | 334 | 0.0030 | -12 | c.263 others(21): Show |
p.Pro others(13): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 14/14 | 2676/3211 | 2634/2760 | 878/919 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CLCA4_chr1_86542078_86585754 | 86585705 | CTCTCTCT others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 334 | 0.0030 | -12 | c.*53 others(23): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 4952 | chr1 | TogoVar | ||||||
CLCF1_chr11_67359168_67378598 | 67372616 | CGGCGGGG others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 308 | 0.0033 | -12 | c.16+ others(25): Show |
CLCF1 | ENSG00000175505.11 | transcript | ENST00000312438.8 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
CLCN1_chr7_143311111_143357083 | 143337807 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(88): Show |
a0002a0004a0008others(1): Show | a0002c0002a0002c0005a0002c0018others(3): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(5): Show | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0008others(75): Show | 91 | 414 | 0.2198 | -12 | c.140 others(31): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169672653 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 288 | 0.0035 | -12 | c.161 others(29): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |