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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNG2_chr22_36555857_36708752 | 36679197 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0112 | 1 | 152 | 0.0066 | 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 | 212 | 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 | a0001c0001t0003g0166 a0001c0001t0012g0149 |
2 | 140 | 0.0143 | 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 | a0001c0001t0003g0160 a0001c0001t0006g0143 a0001c0001t0006g0155 others(2): Show |
5 | 143 | 0.0350 | 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 | a0001c0001t0013a0001c0001t0100 | a0001c0001t0013g0184 a0001c0001t0100g0202 |
2 | 189 | 0.0106 | 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 | a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0069 |
3 | 175 | 0.0171 | 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 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 57 | 0.0175 | 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 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0150 a0001c0001t0003g0041 a0001c0001t0003g0044 others(3): Show |
6 | 62 | 0.0968 | 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 | a0001c0005t0010 | a0001c0005t0010g0073 | 1 | 68 | 0.0147 | 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 | 37 | 0.0270 | 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 | a0001c0001t0002g0102 a0001c0001t0010g0067 a0001c0002t0046g0139 |
3 | 38 | 0.0789 | 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 | a0001c0001t0002g0138 a0001c0001t0005g0061 a0001c0001t0022g0081 |
3 | 38 | 0.0789 | 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 | 112 | 0.0089 | 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 | 20 | 0.0500 | 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 | a0001c0001t0001g0089 a0001c0002t0001g0044 a0004c0008t0001g0092 |
3 | 124 | 0.0242 | 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 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0132 a0003c0002t0001g0180 a0003c0002t0001g0306 |
3 | 35 | 0.0857 | 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 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0069 a0003c0002t0001g0182 a0003c0002t0001g0194 |
3 | 35 | 0.0857 | 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 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0147 | 1 | 33 | 0.0303 | 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 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0306 | 1 | 17 | 0.0588 | 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 | a0001c0001t0002g0010 a0001c0001t0002g0155 a0001c0001t0002g0236 others(5): Show |
8 | 69 | 0.1159 | 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 | a0001c0001t0001g0104 a0001c0001t0001g0157 a0001c0001t0001g0247 others(5): Show |
8 | 62 | 0.1290 | 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 | 329 | 0.0122 | 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 | 366 | 0.0027 | 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 | 124 | 0.0081 | 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 | 14 | 0.0714 | 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 | 5 | 0.2000 | 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 | a0001c0001t0001g0015 a0001c0001t0006g0073 a0001c0001t0006g0152 others(7): Show |
10 | 212 | 0.0472 | 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 | a0001c0001t0011g0017 | 1 | 41 | 0.0244 | 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 | a0001c0001t0001g0095 a0001c0001t0003g0045 a0001c0001t0003g0129 others(14): Show |
17 | 179 | 0.0950 | 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 | a0001c0001t0001g0310 a0001c0002t0001g0025 a0001c0002t0001g0026 others(35): Show |
50 | 444 | 0.1126 | 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 | a0001c0001t0002g0257 a0001c0001t0018g0215 |
2 | 54 | 0.0370 | 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 | a0001c0002t0002g0047 a0001c0002t0002g0128 a0002c0001t0001g0213 others(2): Show |
5 | 165 | 0.0303 | 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 | a0001c0002t0001g0215 a0002c0001t0008g0016 |
3 | 433 | 0.0069 | 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 | a0001c0002t0001g0365 | 1 | 265 | 0.0038 | 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 | a0001c0003t0005g0049 | 1 | 265 | 0.0038 | 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 | a0002c0002t0003g0064 a0002c0002t0003g0077 |
2 | 287 | 0.0070 | 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 | a0002c0015t0023g0328 | 1 | 146 | 0.0068 | 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 | a0001c0001t0001g0095 | 1 | 322 | 0.0031 | 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 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0067 others(9): Show |
12 | 109 | 0.1101 | 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 | 13 | 0.0769 | 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 | 46 | 0.0217 | 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 | a0003c0006t0001g0077 | 1 | 324 | 0.0031 | 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 | a0001c0002t0002g0156 a0001c0002t0002g0200 |
2 | 301 | 0.0066 | 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 | a0002c0004t0001g0058 | 1 | 267 | 0.0037 | 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 | a0002c0004t0001g0055 | 1 | 315 | 0.0032 | 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 | a0001c0025 | a0001c0025t0005 | a0001c0025t0005g0292 | 1 | 207 | 0.0048 | 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 | a0001c0001t0005g0281 a0001c0001t0005g0284 a0001c0001t0005g0291 |
3 | 321 | 0.0093 | 40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735972 | C | CGGGGGTT others(33): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0276 | 1 | 306 | 0.0033 | 40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0012 | a0012c0017 | a0012c0017t0003 | a0012c0017t0003g0012 | 1 | 100 | 0.0100 | 40 | c.310 others(57): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |