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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1H_chr16_1148106_1226768 | 1185820 | C | CATAGGGC others(43): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0233 | 1 | 293 | 0.0034 | 50 | c.300 others(67): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185893 | C | CGGGGCAG others(43): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0064 | a0064c0049 | a0064c0049t0004 | a0064c0049t0004g0321 | 1 | 328 | 0.0030 | 50 | c.300 others(67): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185955 | A | ACGGCGTA others(43): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0068 | a0003c0068t0004 | a0003c0068t0004g0290 | 1 | 309 | 0.0032 | 50 | c.300 others(67): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1186091 | A | AGGTGAGT others(43): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 |
a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0200 a0002c0011t0002g0202 |
2 | 291 | 0.0069 | 50 | c.300 others(67): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54363196 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0085 | 1 | 104 | 0.0096 | 50 | c.322 others(69): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54736018 | C | CACATATA others(43): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 HG02970.hp1 |
a0001 | a0001c0002a0001c0009a0001c0039 | a0001c0002t0001a0001c0009t0001a0001c0039t0001 | a0001c0002t0001g0070 a0001c0009t0001g0013 a0001c0039t0001g0047 |
3 | 41 | 0.0732 | 50 | c.116 others(71): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18442958 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 166 | 0.0060 | 50 | c.333 others(69): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18499637 | A | AAAGAACC others(43): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01358.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0021others(4): Show | a0001c0001t0003g0080 a0001c0001t0006g0005 a0001c0001t0006g0134 others(7): Show |
10 | 118 | 0.0847 | 50 | c.457 others(67): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442958 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 242 | 0.0041 | 50 | c.171 others(69): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18499637 | A | AAAGAACC others(43): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01358.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0246 a0001c0001t0003g0294 a0001c0001t0005g0065 others(9): Show |
12 | 188 | 0.0638 | 50 | c.295 others(67): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36703760 | G | GCTCGCTC others(43): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0123 a0001c0001t0005g0127 |
2 | 140 | 0.0143 | 50 | c.-11 others(61): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 9 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703760 | G | GCTCGCTC others(43): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0077 | a0001c0001t0003g0168 a0001c0001t0077g0152 |
2 | 140 | 0.0143 | 50 | c.-11 others(61): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 9 | chr22 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 173 | 0.0058 | 50 | c.545 others(65): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02257.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0005g0120 a0001c0001t0007g0059 a0001c0001t0009g0008 others(4): Show |
7 | 42 | 0.1667 | 50 | c.62- others(69): 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(43): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0133 | 1 | 36 | 0.0278 | 50 | c.62- others(69): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85431870 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0141 | 1 | 144 | 0.0069 | 50 | c.62- others(69): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62599779 | A | AATATATT others(43): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0045 a0001c0001t0002g0152 a0001c0003t0001g0131 |
3 | 82 | 0.0366 | 50 | c.132 others(69): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 6/29 | chr3 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0212 | 1 | 33 | 0.0303 | 50 | c.912 others(67): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48858011 | A | ATAGAGTA others(43): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 319 | 0.0031 | 50 | c.100 others(69): 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(43): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0302 | 1 | 62 | 0.0161 | 50 | c.100 others(69): 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(43): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 55 | 0.0182 | 50 | c.-27 others(69): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0164 | 1 | 11 | 0.0909 | 50 | c.218 others(65): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | |||||||
CALML3_chr10_5519961_5531771 | 5521239 | A | ATATATAT others(43): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 326 | 0.0031 | 50 | c.-38 others(61): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3721 | chr10 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72054502 | T | TACATATA others(43): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0140 | 1 | 78 | 0.0128 | 50 | c.389 others(69): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72114255 | A | AAGGGGAG others(43): Show |
intron_variant | MODIFIER | HG06807.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0050 | a0001c0001t0001g0101 a0001c0001t0050g0131 |
2 | 125 | 0.0160 | 50 | c.245 others(67): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0114 | 1 | 14 | 0.0714 | 50 | c.244 others(67): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0029 | 1 | 14 | 0.0714 | 50 | c.244 others(67): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12734447 | T | TAGAGATA others(43): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0158 | 1 | 213 | 0.0047 | 50 | c.300 others(69): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113709759 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG01975.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0049 | a0001c0001t0007g0048 a0001c0001t0049g0044 |
2 | 274 | 0.0073 | 50 | c.161 others(69): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44410231 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 98 | 0.0102 | 50 | c.376 others(69): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44588822 | T | TGGGGGGG others(43): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02055.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0035 a0001c0001t0001g0120 a0001c0001t0001g0165 others(5): Show |
8 | 169 | 0.0473 | 50 | c.377 others(71): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135847892 | G | GGAGGGGA others(43): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 a0001c0001t0002g0319 |
2 | 196 | 0.0102 | 50 | c.104 others(69): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | |||||||
CAMSAP1_chr9_135803487_135912546 | 135847892 | G | GGAGTGGA others(43): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0325 a0001c0002t0005g0324 a0001c0002t0005g0326 others(6): Show |
9 | 203 | 0.0443 | 50 | c.104 others(69): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816782 | A | ATGTGTGT others(43): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0211 a0001c0001t0009g0224 |
2 | 339 | 0.0059 | 50 | c.645 others(67): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816833 | T | TGTATATA others(43): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 |
3 | 360 | 0.0083 | 50 | c.645 others(67): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816966 | G | GTATGTGT others(43): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18975.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0242 a0001c0001t0001g0263 |
3 | 269 | 0.0112 | 50 | c.645 others(67): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735817 | G | GCGGGCGG others(43): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0286 a0001c0001t0005g0291 |
2 | 208 | 0.0096 | 50 | c.158 others(67): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735817 | G | GCGGGCGG others(43): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04184.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0297 |
3 | 209 | 0.0144 | 50 | c.158 others(67): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735877 | C | CGGGGCGG others(43): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0159 | 1 | 332 | 0.0030 | 50 | c.158 others(67): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30758789 | T | TCCTTTCC others(43): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0164 | 1 | 124 | 0.0081 | 50 | c.775 others(65): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30796146 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 211 | 0.0047 | 50 | c.-32 others(67): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 550842 | G | GTCCCGGT others(43): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02572.hp2 others(7): Show |
a0001a0004a0012 | a0001c0004a0001c0006a0004c0019others(3): Show | a0001c0004t0001a0001c0006t0003a0004c0019t0001others(4): Show | a0001c0004t0001g0268 a0001c0006t0003g0007 a0001c0006t0003g0269 others(6): Show |
10 | 405 | 0.0247 | 50 | c.206 others(67): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77098574 | G | GGACTGGG others(43): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0207 | 1 | 380 | 0.0026 | 50 | c.297 others(67): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77098582 | C | CGGCTGGC others(43): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(55): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0020a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0224 a0001c0001t0002g0003 a0001c0001t0002g0010 others(51): Show |
58 | 376 | 0.1543 | 50 | c.297 others(67): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 195 | 0.0051 | 50 | c.330 others(67): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CARF_chr2_202907275_202993263 | 202986887 | T | TACATATA others(43): Show |
3_prime_UTR_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0260 | 1 | 288 | 0.0035 | 50 | c.*32 others(61): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3265 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986887 | T | TATACATA others(43): Show |
3_prime_UTR_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0266 | 1 | 288 | 0.0035 | 50 | c.*32 others(61): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3267 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986887 | T | TATACATA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG03490.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0170 a0001c0001t0019g0173 a0001c0001t0019g0246 |
3 | 290 | 0.0103 | 50 | c.*32 others(61): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3267 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986889 | T | TACATATA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0121 | 1 | 331 | 0.0030 | 50 | c.*32 others(61): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3267 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25313683 | G | GCATATAT others(43): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG02083.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0007a0001c0001t0015a0001c0002t0005others(5): Show | a0001c0001t0007g0134 a0001c0001t0015g0182 a0001c0002t0005g0152 others(5): Show |
8 | 117 | 0.0684 | 50 | c.138 others(69): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar |