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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAB39L_chr13_49303650_49449064 | 49329543 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01109.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 a0001c0001t0002g0252 |
2 | 313 | 0.0064 | -27 | c.834 others(44): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49329545 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0197 a0001c0001t0001g0309 a0001c0001t0002g0052 others(32): Show |
35 | 219 | 0.1598 | -27 | c.834 others(44): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CABP4_chr11_67450354_67466752 | 67466687 | CCAACCCT others(20): Show |
C | downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 1 | 366 | 0.0027 | -27 | c.*80 others(38): Show |
CABP4 | ENSG00000175544.14 | transcript | ENST00000325656.7 | protein_coding | 4936 | chr11 | TogoVar | |||||||
CABP7_chr22_29715003_29736833 | 29716926 | GCTGGGAG others(20): Show |
G | upstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 436 | 0.0023 | -27 | c.-34 others(38): Show |
CABP7 | ENSG00000100314.4 | transcript | ENST00000216144.4 | protein_coding | 3076 | chr22 | TogoVar | |||||||
CABS1_chr4_70329981_70342116 | 70334331 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp2 others(45): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0006c0007t0002 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(1): Show |
48 | 444 | 0.1081 | -27 | c.-70 others(36): Show |
CABS1 | ENSG00000145309.6 | transcript | ENST00000273936.6 | protein_coding | 649 | chr4 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64675993 | TTAATAAT others(20): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02559.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0108 others(6): Show |
9 | 27 | 0.3333 | -27 | c.297 others(42): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(20): Show |
C | conservative_inframe_deletion | MODERATE | NA18968.hp1 | a0039 | a0039c0057 | a0039c0057t0009 | a0039c0057t0009g0002 | 1 | 59 | 0.0169 | -27 | c.694 others(36): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6949/7521 | 2317/2506 | chr19 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13497506 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0061 | 1 | 216 | 0.0046 | -27 | c.293 others(44): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497514 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0007 | a0007c0012 | a0007c0012t0002 | a0007c0012t0002g0016 | 1 | 212 | 0.0047 | -27 | c.293 others(44): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497516 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG01981.hp2 HG03540.hp1 |
a0001a0003 | a0001c0001a0003c0108 | a0001c0001t0001a0003c0108t0005 | a0001c0001t0001g0015 a0003c0108t0005g0210 |
2 | 206 | 0.0097 | -27 | c.293 others(44): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82185514 | GGAGGGGG others(20): Show |
G | intron_variant | MODIFIER | HG03098.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0086 a0001c0001t0020g0115 |
2 | 140 | 0.0143 | -27 | c.295 others(46): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0088 | 1 | 2 | 0.5000 | -27 | c.138 others(46): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481203 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01981.hp2 HG02615.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0133 a0001c0001t0004g0149 others(2): Show |
5 | 200 | 0.0250 | -27 | c.334 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18481204 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01516.hp1 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0196 a0001c0001t0003g0044 others(2): Show |
5 | 183 | 0.0273 | -27 | c.334 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481206 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0045others(2): Show | a0001c0001t0001g0002 a0001c0001t0004g0161 a0001c0001t0004g0167 others(3): Show |
6 | 192 | 0.0313 | -27 | c.334 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481208 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0071 | 1 | 196 | 0.0051 | -27 | c.334 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481216 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp1 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0185 |
3 | 194 | 0.0155 | -27 | c.334 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481203 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01981.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0039others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0064 others(4): Show |
7 | 300 | 0.0233 | -27 | c.172 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18481204 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02148.hp2 NA18945.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0035 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0076 others(3): Show |
6 | 276 | 0.0217 | -27 | c.172 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481206 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02055.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0052others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0245 a0001c0001t0001g0255 others(6): Show |
9 | 291 | 0.0309 | -27 | c.172 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481208 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0040 | a0001c0001t0015g0020 a0001c0001t0040g0018 |
2 | 296 | 0.0068 | -27 | c.172 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481216 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 |
3 | 291 | 0.0103 | -27 | c.172 others(46): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151884308 | AATAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG03195.hp1 NA18906.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0015a0001c0006t0042 | a0001c0005t0015g0199 a0001c0006t0042g0033 |
2 | 230 | 0.0087 | -27 | c.148 others(42): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG1_chr17_67039554_67061797 | 67050453 | CAAAAGGC others(20): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0055 | 1 | 426 | 0.0023 | -27 | c.230 others(44): Show |
CACNG1 | ENSG00000108878.5 | transcript | ENST00000226021.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66968541 | CCCCTCCT others(20): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02523.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0021 a0001c0001t0002g0020 a0001c0001t0013g0255 |
3 | 350 | 0.0086 | -27 | c.220 others(44): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66968568 | TCCCTCCT others(20): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 | 1 | 171 | 0.0058 | -27 | c.220 others(44): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG5_chr17_66830117_66899751 | 66898123 | GTGAGGTG others(20): Show |
G | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 | 1 | 370 | 0.0027 | -27 | c.*12 others(40): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 3373 | chr17 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53919675 | TATTGGTG others(20): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 364 | 0.0027 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53919931 | GCCTGGTA others(20): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 364 | 0.0027 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53919978 | TCCCCAGG others(20): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015 | a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0073 others(3): Show |
6 | 361 | 0.0166 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53920323 | GCCCCAGG others(20): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00733.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023 | a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0210 others(13): Show |
17 | 357 | 0.0476 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53921190 | CATTGGTG others(20): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 364 | 0.0027 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53921445 | GCCCCAGG others(20): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 others(4): Show |
7 | 364 | 0.0192 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53921559 | GCTGGTCA others(20): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG01978.hp1 HG02027.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0197 others(7): Show |
10 | 352 | 0.0284 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53921754 | TATTGGTG others(20): Show |
T | intron_variant | MODIFIER | HG02109.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0120 a0001c0001t0019g0277 |
2 | 332 | 0.0060 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922181 | GCTGGTCA others(20): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 350 | 0.0029 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922282 | GCCCCAGG others(20): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0073 a0001c0001t0007g0075 |
2 | 351 | 0.0057 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922454 | GCTGGTCA others(20): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 331 | 0.0030 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922575 | GAGTTGTC others(20): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 318 | 0.0031 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922588 | ACTGGTCA others(20): Show |
A | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 236 | 0.0042 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922930 | TCCCAGGT others(20): Show |
T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 277 | 0.0036 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53923099 | GCTGGTCA others(20): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG01978.hp1 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 others(9): Show |
12 | 320 | 0.0375 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53923825 | TCTGGTCA others(20): Show |
T | intron_variant | MODIFIER | NA18982.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0136 |
2 | 326 | 0.0061 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53925153 | CTTGCCCC others(20): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01891.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(7): Show |
10 | 364 | 0.0275 | -27 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85262913 | TTACTCTG others(20): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02280.hp2 HG02451.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(9): Show | a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0008g0013 others(15): Show |
18 | 146 | 0.1233 | -27 | c.61+ others(46): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85321112 | ATATATTT others(20): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0049a0001c0003t0006 | a0001c0001t0049g0033 a0001c0003t0006g0027 |
2 | 137 | 0.0146 | -27 | c.61+ others(46): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0030 a0001c0003t0006g0034 |
2 | 66 | 0.0303 | -27 | c.61+ others(46): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85768734 | CATATATA others(20): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0108 a0001c0001t0003g0062 a0001c0001t0003g0073 others(7): Show |
10 | 135 | 0.0741 | -27 | c.89- others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85769109 | TGTATATA others(20): Show |
T | intron_variant | MODIFIER | NA18949.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 a0001c0001t0003g0069 |
2 | 130 | 0.0154 | -27 | c.89- others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85855602 | CATATATA others(20): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00621.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0031 others(59): Show |
62 | 136 | 0.4559 | -27 | c.239 others(46): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |