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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHUK_chr10_100183300_100234596 | 100228993 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0049 others(12): Show |
21 | 402 | 0.0522 | 14 | c.105 others(29): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
CHURC1_chr14_64909455_64940368 | 64923273 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0206 a0001c0001t0004g0005 a0001c0001t0004g0069 others(9): Show |
18 | 392 | 0.0459 | 14 | c.40- others(27): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78117246 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp1 others(46): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0029 others(31): Show |
49 | 390 | 0.1256 | 14 | c.87- others(29): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26593464 | C | CATATACA others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01346.hp1 HG03041.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 others(1): Show |
4 | 344 | 0.0116 | 14 | c.328 others(31): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26601217 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0058 | 1 | 344 | 0.0029 | 14 | c.187 others(31): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26601231 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 | 1 | 344 | 0.0029 | 14 | c.187 others(31): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617120 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(32): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0001g0217 others(31): Show |
35 | 344 | 0.1017 | 14 | c.186 others(33): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617145 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 344 | 0.0029 | 14 | c.186 others(33): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617147 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01175.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0267 |
2 | 344 | 0.0058 | 14 | c.186 others(33): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697762 | A | ACATATAT others(7): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 374 | 0.0027 | 14 | c.-28 others(25): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2787 | chr8 | TogoVar | |||||||
CIITA_chr16_10872202_10941394 | 10913278 | T | TCTTTCTT others(7): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0020 | a0005c0020t0053 | a0005c0020t0053g0131 | 1 | 392 | 0.0026 | 14 | c.288 others(33): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CINP_chr14_102343282_102367890 | 102359227 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01361.hp2 HG01516.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0103 others(9): Show |
18 | 420 | 0.0429 | 14 | c.176 others(29): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
CINP_chr14_102343282_102367890 | 102359234 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0110 | 1 | 420 | 0.0024 | 14 | c.176 others(29): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569168 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 a0002c0002t0001g0123 |
2 | 372 | 0.0054 | 14 | c.111 others(31): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575903 | C | CACATATA others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02027.hp1 HG02647.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0002 | a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 others(6): Show |
9 | 372 | 0.0242 | 14 | c.894 others(29): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108580436 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show |
5 | 372 | 0.0134 | 14 | c.550 others(29): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 5/20 | chr3 | TogoVar | |||||||
CIROP_chr14_23094062_23109989 | 23094104 | C | CCACACAA others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(123): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0016a0001c0020others(7): Show | a0001c0001t0001a0001c0016t0001a0001c0020t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0025 others(14): Show |
126 | 450 | 0.2800 | 14 | c.*51 others(25): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 4957 | chr14 | TogoVar | |||||||
CISD1_chr10_58264162_58294586 | 58271043 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 386 | 0.0026 | 14 | c.31+ others(29): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102868072 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0033 | 1 | 354 | 0.0028 | 14 | c.-10 others(25): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 919 | chr4 | TogoVar | |||||||
CISD2_chr4_102863992_102897807 | 102890840 | T | TAAAAAAA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG02055.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0043others(2): Show | a0001c0001t0013g0002 a0001c0001t0013g0016 a0001c0001t0013g0024 others(6): Show |
9 | 354 | 0.0254 | 14 | c.*34 others(25): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 3/3 | 3424 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CISH_chr3_50601489_50616774 | 50614500 | A | AGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 360 | 0.0028 | 14 | c.-28 others(25): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 2727 | chr3 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119726011 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG02257.hp1 others(9): Show |
a0001a0003a0011 | a0001c0006a0001c0007a0001c0009others(2): Show | a0001c0006t0001a0001c0006t0012a0001c0006t0024others(4): Show | a0001c0006t0001g0148 a0001c0006t0012g0115 a0001c0006t0012g0129 others(9): Show |
12 | 236 | 0.0509 | 14 | c.359 others(33): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119731813 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | 236 | 0.0127 | 14 | c.335 others(33): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119745374 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(27): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(27): Show |
30 | 236 | 0.1271 | 14 | c.290 others(33): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119745386 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 236 | 0.0042 | 14 | c.290 others(33): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119745390 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 236 | 0.0042 | 14 | c.290 others(33): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18959.hp2 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0058 a0001c0002t0001g0087 a0001c0002t0002g0102 |
3 | 236 | 0.0127 | 14 | c.239 others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119879096 | T | TCTCACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0019 | a0004c0019t0003 | a0004c0019t0003g0002 | 1 | 236 | 0.0042 | 14 | c.-18 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1777 | chr12 | TogoVar | |||||||
CIZ1_chr9_128161065_128196572 | 128161087 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG06807.hp1 others(7): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0080 others(7): Show |
10 | 380 | 0.0263 | 14 | c.*51 others(25): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 4977 | chr9 | TogoVar | |||||||
CKAP2L_chr2_112731349_112769609 | 112734169 | A | ATATATGT others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00558.hp1 others(54): Show |
a0002a0008a0013others(2): Show | a0002c0002a0008c0009a0013c0016others(2): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0021others(4): Show | a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0013 others(30): Show |
57 | 300 | 0.1900 | 14 | c.*46 others(25): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 2179 | chr2 | TogoVar | |||||||
CKAP2L_chr2_112731349_112769609 | 112734169 | A | ATATGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01928.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0017others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0081 others(10): Show |
14 | 300 | 0.0467 | 14 | c.*46 others(25): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 2179 | chr2 | TogoVar | |||||||
CKAP2L_chr2_112731349_112769609 | 112734169 | A | ATGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 HG02886.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0004 | a0001c0001t0001g0070 a0004c0005t0004g0046 |
2 | 300 | 0.0067 | 14 | c.*46 others(25): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 2179 | chr2 | TogoVar | |||||||
CKAP2_chr13_52450478_52481627 | 52452963 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 406 | 0.0025 | 14 | c.-25 others(25): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2514 | chr13 | TogoVar | |||||||
CKAP2_chr13_52450478_52481627 | 52465906 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(180): Show |
a0001a0007a0008others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(118): Show |
183 | 406 | 0.4507 | 14 | c.147 others(31): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52465940 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 406 | 0.0025 | 14 | c.147 others(31): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CKAP4_chr12_106232881_106253020 | 106237526 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03017.hp1 HG03041.hp2 |
a0001a0003 | a0001c0002a0001c0015a0003c0005 | a0001c0002t0002a0001c0015t0001a0003c0005t0001 | a0001c0002t0002g0087 a0001c0015t0001g0100 a0003c0005t0001g0019 |
3 | 418 | 0.0072 | 14 | c.*14 others(25): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 354 | chr12 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752161 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 294 | 0.0034 | 14 | c.513 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752193 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 294 | 0.0034 | 14 | c.513 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752193 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 a0001c0001t0002g0097 |
2 | 294 | 0.0068 | 14 | c.513 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752193 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0092 | 1 | 294 | 0.0034 | 14 | c.513 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752193 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 294 | 0.0034 | 14 | c.513 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752193 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 294 | 0.0034 | 14 | c.513 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752193 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02965.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0235 a0001c0007t0001g0233 a0001c0007t0001g0234 |
3 | 294 | 0.0102 | 14 | c.513 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46752193 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18747.hp2 NA18954.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0223 a0001c0001t0001g0224 others(3): Show |
6 | 294 | 0.0204 | 14 | c.513 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46802557 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 |
3 | 294 | 0.0102 | 14 | c.979 others(31): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 8/43 | chr11 | TogoVar | |||||||
CKMT2_chr5_81228322_81271398 | 81250940 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01081.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0151 a0001c0001t0001g0197 a0001c0001t0002g0016 others(7): Show |
12 | 356 | 0.0337 | 14 | c.-20 others(29): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CKM_chr19_45301413_45327875 | 45321063 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 NA20805.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 |
3 | 392 | 0.0077 | 14 | c.-18 others(31): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121339131 | C | CCACACAC others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG03471.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0074a0001c0002t0030 | a0001c0001t0074g0024 a0001c0002t0030g0140 a0001c0002t0030g0142 |
3 | 214 | 0.0140 | 14 | c.*17 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 41/41 | 1729 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121442481 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034 | a0001c0001t0002g0127 a0001c0001t0034g0125 |
2 | 214 | 0.0094 | 14 | c.191 others(33): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 19/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121478848 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0002 | 1 | 214 | 0.0047 | 14 | c.713 others(31): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar |