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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNB2_chr10_18135424_18548557 | 18325689 | C | CCCTCCCT others(33): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0179 | 1 | 200 | 0.0050 | 40 | c.214 others(59): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18325689 | C | CCCTCCCT others(33): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0120 | 1 | 200 | 0.0050 | 40 | c.214 others(59): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNG2_chr22_36555857_36708752 | 36679197 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0112 | 1 | 214 | 0.0047 | 40 | c.211 others(59): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36679199 | T | TTCCTTCC others(33): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0173 | 1 | 214 | 0.0047 | 40 | c.211 others(59): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36703760 | G | GCTCGCTC others(33): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0165a0001c0001t0012g0146 | 2 | 214 | 0.0094 | 40 | c.-11 others(51): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 9 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36703760 | G | GCTCGCTC others(33): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02129.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0072 | a0001c0001t0003g0159a0001c0001t0006g0142a0001c0001t0006g0154others(2): Show | 5 | 214 | 0.0234 | 40 | c.-11 others(51): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 9 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36703826 | T | TCTCTCTC others(33): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0101 | a0001c0001t0013g0181a0001c0001t0101g0202 | 2 | 214 | 0.0094 | 40 | c.-12 others(51): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 75 | chr22 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18975.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043a0001c0001t0006g0048a0001c0001t0006g0053 | 3 | 430 | 0.0070 | 40 | c.545 others(55): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CADM1_chr11_115164236_115509415 | 115284087 | A | ACTCTCTC others(33): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0050 | 1 | 164 | 0.0061 | 40 | c.125 others(59): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115284087 | A | ACTCTCTC others(33): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02071.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0150a0001c0001t0003g0041a0001c0001t0003g0044others(3): Show | 6 | 164 | 0.0366 | 40 | c.125 others(59): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115308211 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0073 | 1 | 164 | 0.0061 | 40 | c.125 others(59): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85359666 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 146 | 0.0069 | 40 | c.62- others(59): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02809.hp2 HG04228.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0002t0046 | a0001c0001t0002g0102a0001c0001t0010g0067a0001c0002t0046g0139 | 3 | 146 | 0.0206 | 40 | c.62- others(59): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATGTA others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02486.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0022 | a0001c0001t0002g0138a0001c0001t0005g0061a0001c0001t0022g0081 | 3 | 146 | 0.0206 | 40 | c.62- others(59): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85541773 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0066 | 1 | 146 | 0.0069 | 40 | c.62- others(59): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85628580 | C | CACATATA others(33): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0106 | 1 | 146 | 0.0069 | 40 | c.62- others(57): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADPS2_chr7_122313411_122891460 | 122603343 | G | GTTAAAGA others(33): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03453.hp2 NA18522.hp1 |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0002t0001a0004c0008t0001 | a0001c0001t0001g0089a0001c0002t0001g0044a0004c0008t0001g0092 | 3 | 126 | 0.0238 | 40 | c.122 others(61): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 6/29 | chr7 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02273.hp1 NA18960.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133a0002c0002t0001g0182a0002c0002t0001g0307 | 3 | 328 | 0.0092 | 40 | c.912 others(57): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18945.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068a0002c0002t0001g0184a0002c0002t0001g0195 | 3 | 328 | 0.0092 | 40 | c.912 others(57): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0148 | 1 | 328 | 0.0031 | 40 | c.912 others(57): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48857497 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0307 | 1 | 328 | 0.0031 | 40 | c.100 others(59): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | AAATAGAA others(33): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01261.hp2 HG01358.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0020 | a0001c0001t0002g0009a0001c0001t0002g0156a0001c0001t0002g0237others(5): Show | 8 | 328 | 0.0244 | 40 | c.100 others(59): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCR_chr7_93419486_93579724 | 93554769 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03195.hp1 HG03491.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0009 | a0001c0001t0001a0001c0001t0025a0002c0002t0001others(1): Show | a0001c0001t0001g0104a0001c0001t0001g0157a0001c0001t0001g0247others(5): Show | 8 | 292 | 0.0274 | 40 | c.-27 others(59): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
CALML3_chr10_5519961_5531771 | 5521239 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 HG01074.hp2 NA18947.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 452 | 0.0089 | 40 | c.-38 others(51): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3721 | chr10 | TogoVar | ||||||
CALML3_chr10_5519961_5531771 | 5521241 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0000 | 1 | 452 | 0.0022 | 40 | c.-38 others(51): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3719 | chr10 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114255 | A | AAGGGGAG others(33): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0002 | 1 | 142 | 0.0070 | 40 | c.245 others(57): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0102 | 1 | 142 | 0.0070 | 40 | c.244 others(57): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72387306 | G | GAGGGAGG others(33): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0131 | 1 | 142 | 0.0070 | 40 | c.119 others(59): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12401152 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG01167.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0037others(6): Show | a0001c0001t0001g0016a0001c0001t0006g0073a0001c0001t0006g0152others(7): Show | 10 | 214 | 0.0467 | 40 | c.92+ others(57): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12541842 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0018 | 1 | 214 | 0.0047 | 40 | c.93- others(57): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12623343 | T | TCCTTCCT others(33): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0095a0001c0001t0003g0045a0001c0001t0003g0129others(14): Show | 17 | 214 | 0.0794 | 40 | c.225 others(59): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1G_chr1_209578714_209618939 | 209593761 | T | TGTCCCCT others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00609.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0335a0001c0002t0001g0018a0001c0002t0001g0019others(35): Show | 50 | 446 | 0.1121 | 40 | c.-29 others(57): Show |
CAMK1G | ENSG00000008118.10 | transcript | ENST00000361322.3 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
CAMK2D_chr4_113446032_113766738 | 113709746 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0257a0001c0001t0018g0215 | 2 | 278 | 0.0072 | 40 | c.161 others(59): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868071 | A | AGTCTAAC others(33): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03669.hp2 HG03688.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0042a0001c0002t0002g0132a0002c0001t0001g0219others(2): Show | 5 | 446 | 0.0112 | 40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868111 | C | CGTCTAAC others(33): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp1 HG01258.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0008 | a0001c0002t0001g0221a0002c0001t0008g0010 | 3 | 446 | 0.0067 | 40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868130 | C | CTCTGGGG others(33): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0376 | 1 | 446 | 0.0022 | 40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868130 | C | CTCTGGGG others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0044 | 1 | 446 | 0.0022 | 40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121255330 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18980.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0063a0002c0002t0003g0076 | 2 | 330 | 0.0061 | 40 | c.907 others(55): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121268083 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0015 | a0002c0015t0023 | a0002c0015t0023g0329 | 1 | 330 | 0.0030 | 40 | c.625 others(55): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121268099 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 330 | 0.0030 | 40 | c.625 others(55): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44410231 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01169.hp2 HG01243.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0065a0001c0001t0001g0067others(9): Show | 12 | 198 | 0.0606 | 40 | c.376 others(59): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 58 | 0.0172 | 40 | c.438 others(59): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7515079 | T | TCCCCGGC others(33): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 58 | 0.0172 | 40 | c.510 others(59): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7594117 | G | GAGAAAGA others(33): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0049 | 1 | 58 | 0.0172 | 40 | c.511 others(59): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPG_chr2_85389753_85415366 | 85397704 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0079 | 1 | 410 | 0.0024 | 40 | c.892 others(55): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 8/9 | chr2 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735670 | C | CGCGGGGC others(33): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02293.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0161a0001c0002t0002g0213 | 2 | 342 | 0.0059 | 40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735727 | G | GGGGGCGG others(33): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0054 | 1 | 342 | 0.0029 | 40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735797 | C | CGGGGCGG others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0053 | 1 | 342 | 0.0029 | 40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735817 | G | GCGGGCGG others(33): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0026 | a0001c0026t0005 | a0001c0026t0005g0304 | 1 | 342 | 0.0029 | 40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735917 | C | CGGGGCGG others(33): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18612.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0293a0001c0001t0005g0296a0001c0001t0005g0303 | 3 | 342 | 0.0088 | 40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar |