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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK2G_chr10_73807501_73879555 | 73820464 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 280 | 0.0036 | 14 | c.125 others(31): Show |
CAMK2G | ENSG00000148660.22 | transcript | ENST00000423381.6 | protein_coding | 18/22 | chr10 | TogoVar | ||||||
CAMK2N1_chr1_20477391_20491210 | 20482856 | C | CGTGTGTG others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG02080.hp1 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015 | 4 | 422 | 0.0095 | 14 | c.*77 others(23): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 2/2 | 792 | chr1 | TogoVar | |||||
CAMK2N1_chr1_20477391_20491210 | 20490514 | C | CCACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 422 | 0.0024 | 14 | c.-51 others(25): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 4305 | chr1 | TogoVar | ||||||
CAMK2N2_chr3_184254213_184266553 | 184256272 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 NA18952.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 380 | 0.0079 | 14 | c.*38 others(25): Show |
CAMK2N2 | ENSG00000163888.4 | transcript | ENST00000296238.4 | protein_coding | 2940 | chr3 | TogoVar | ||||||
CAMK2N2_chr3_184254213_184266553 | 184263637 | A | AAGAGAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG03471.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0013 | 3 | 380 | 0.0079 | 14 | c.-23 others(25): Show |
CAMK2N2 | ENSG00000163888.4 | transcript | ENST00000296238.4 | protein_coding | 2085 | chr3 | TogoVar | ||||||
CAMK2N2_chr3_184254213_184266553 | 184264358 | C | CTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 380 | 0.0026 | 14 | c.-30 others(25): Show |
CAMK2N2 | ENSG00000163888.4 | transcript | ENST00000296238.4 | protein_coding | 2806 | chr3 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111308249 | A | ATAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0121 | a0001c0001t0121g0030 | 1 | 246 | 0.0041 | 14 | c.162 others(33): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111308251 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0069a0001c0001t0133a0001c0001t0173others(1): Show | a0001c0001t0069g0127a0001c0001t0133g0096a0001c0001t0173g0042others(1): Show | 4 | 246 | 0.0163 | 14 | c.162 others(33): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111406194 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02523.hp2 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0114a0001c0001t0136a0001c0001t0163others(2): Show | a0001c0001t0114g0241a0001c0001t0136g0101a0001c0001t0163g0004others(2): Show | 5 | 246 | 0.0203 | 14 | c.459 others(33): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111480249 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01099.hp1 HG01891.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0032a0001c0001t0064others(6): Show | a0001c0001t0001g0137a0001c0001t0032g0246a0001c0001t0064g0031others(6): Show | 9 | 246 | 0.0366 | 14 | c.828 others(31): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111480286 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0094 | a0001c0004t0094g0222 | 1 | 246 | 0.0041 | 14 | c.828 others(31): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111486542 | C | CACACACA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0048 | a0001c0001t0014g0148a0001c0001t0014g0186a0001c0001t0048g0099 | 3 | 246 | 0.0122 | 14 | c.*20 others(25): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 11/11 | 2077 | chr5 | TogoVar | |||||
CAMKK2_chr12_121232692_121301709 | 121262559 | G | GTTCTCTT others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01243.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0011others(7): Show | a0001c0001t0003a0001c0007t0001a0001c0007t0002others(14): Show | a0001c0001t0003g0011a0001c0007t0001g0123a0001c0007t0001g0263others(20): Show | 23 | 330 | 0.0697 | 14 | c.759 others(31): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 6/16 | chr12 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121268083 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01884.hp2 others(4): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0001a0004c0005t0002 | a0002c0002t0001g0004a0002c0002t0001g0041a0002c0002t0001g0042others(4): Show | 7 | 330 | 0.0212 | 14 | c.625 others(29): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44488843 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0144 | 2 | 198 | 0.0101 | 14 | c.376 others(33): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44497709 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01975.hp2 HG02523.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0089a0001c0001t0001g0126a0001c0001t0001g0149others(1): Show | 4 | 198 | 0.0202 | 14 | c.376 others(35): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44503984 | G | GGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 198 | 0.0051 | 14 | c.376 others(35): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44546154 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 198 | 0.0051 | 14 | c.376 others(35): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44621266 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0093a0001c0001t0003g0092 | 2 | 198 | 0.0101 | 14 | c.377 others(33): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44768342 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 198 | 0.0051 | 14 | c.894 others(31): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44768361 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 198 | 0.0051 | 14 | c.894 others(31): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44768361 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 198 | 0.0051 | 14 | c.894 others(31): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02523.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008a0001c0025 | a0001c0001t0001a0001c0008t0006a0001c0025t0001 | a0001c0001t0001g0095a0001c0001t0001g0272a0001c0008t0006g0292others(1): Show | 4 | 340 | 0.0118 | 14 | c.161 others(31): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
CAMSAP3_chr19_7590863_7623304 | 7605147 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02071.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0048a0001c0001t0001g0075others(22): Show | 29 | 358 | 0.0810 | 14 | c.149 others(27): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAMSAP3_chr19_7590863_7623304 | 7614259 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 358 | 0.0028 | 14 | c.267 others(31): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6880383 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0019 | 1 | 58 | 0.0172 | 14 | c.234 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6906181 | A | AATGCTCC others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01243.hp1 others(33): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(33): Show | 36 | 58 | 0.6207 | 14 | c.234 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7107278 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 58 | 0.0172 | 14 | c.302 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7197628 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0043 | 1 | 58 | 0.0172 | 14 | c.303 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7221906 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007a0001c0001t0004g0026 | 2 | 58 | 0.0345 | 14 | c.303 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7231327 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0052 | 1 | 58 | 0.0172 | 14 | c.303 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7335124 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02280.hp1 NA19043.hp2 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0002a0001c0001t0012a0007c0008t0007 | a0001c0001t0002g0046a0001c0001t0012g0019a0007c0008t0007g0023 | 3 | 58 | 0.0517 | 14 | c.438 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7398193 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0012 | a0003c0012t0022 | a0003c0012t0022g0017 | 1 | 58 | 0.0172 | 14 | c.439 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7398193 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0015 | 1 | 58 | 0.0172 | 14 | c.439 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7493382 | A | AACACGTG others(7): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02630.hp2 NA18999.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0003t0001 | a0001c0001t0003g0048a0001c0001t0004g0034a0001c0003t0001g0012 | 3 | 58 | 0.0517 | 14 | c.510 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7542838 | A | AGTTTGTG others(7): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03486.hp1 HG03704.hp1 |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0001a0001c0001t0004a0004c0014t0001 | a0001c0001t0001g0040a0001c0001t0004g0026a0004c0014t0001g0041 | 3 | 58 | 0.0517 | 14 | c.510 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7579552 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 58 | 0.0172 | 14 | c.511 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7688011 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0049 | 1 | 58 | 0.0172 | 14 | c.291 others(35): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAND2_chr3_12791680_12839803 | 12812221 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01069.hp2 others(30): Show |
a0001a0003a0004others(3): Show | a0001c0005a0001c0007a0001c0037others(6): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(10): Show | a0001c0005t0001g0005a0001c0005t0001g0162a0001c0005t0001g0163others(29): Show | 33 | 378 | 0.0873 | 14 | c.758 others(29): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0032 | 1 | 380 | 0.0026 | 14 | c.721 others(29): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40049178 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0206others(11): Show | 18 | 378 | 0.0476 | 14 | c.-11 others(31): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40062773 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02145.hp2 HG02280.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0003g0205a0001c0001t0003g0206a0001c0001t0003g0210others(9): Show | 19 | 378 | 0.0503 | 14 | c.294 others(29): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17461992 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0123 | 2 | 206 | 0.0097 | 14 | c.223 others(29): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01891.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0095others(11): Show | 14 | 206 | 0.0680 | 14 | c.301 others(31): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17529651 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 206 | 0.0049 | 14 | c.637 others(31): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17529651 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 206 | 0.0049 | 14 | c.637 others(31): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPG_chr2_85389753_85415366 | 85408338 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01981.hp1 others(4): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0006 | a0001c0002t0001a0001c0003t0001a0003c0006t0001 | a0001c0002t0001g0032a0001c0003t0001g0059a0003c0006t0001g0063others(1): Show | 7 | 410 | 0.0171 | 14 | c.-14 others(31): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182041 | C | CCACACTC others(7): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 460 | 0.0022 | 14 | c.193 others(31): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182042 | C | CACACTCA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0020t0001others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0046others(20): Show | 23 | 460 | 0.0500 | 14 | c.193 others(31): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 460 | 0.0022 | 14 | c.193 others(31): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |