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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNG7_chr19_53904278_53948950 | 53925011 | TATTGGTG others(19): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 233 | 0.0043 | -26 | c.424 others(43): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53925085 | TCTGGTCA others(19): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01261.hp2 HG02056.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0172 a0001c0001t0001g0275 others(3): Show |
6 | 364 | 0.0165 | -26 | c.424 others(43): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115400659 | GTGTATAT others(19): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 137 | 0.0073 | -26 | c.124 others(47): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 84991245 | TGGAAAAT others(19): Show |
T | intron_variant | MODIFIER | HG03704.hp1 HG03834.hp1 NA18950.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017 | a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 others(3): Show |
6 | 146 | 0.0411 | -26 | c.61+ others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85321114 | ATATTTTT others(19): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0025 | 1 | 117 | 0.0085 | -26 | c.61+ others(45): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG02809.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0025 | a0001c0001t0014g0026 a0001c0001t0025g0132 |
2 | 66 | 0.0303 | -26 | c.61+ others(45): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85336955 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show |
42 | 139 | 0.3022 | -26 | c.61+ others(45): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85601130 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0040a0001c0003t0024 | a0001c0001t0040g0024 a0001c0003t0024g0004 |
2 | 84 | 0.0238 | -26 | c.62- others(45): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85769083 | AGTATATA others(19): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0026 a0001c0001t0014g0118 |
2 | 146 | 0.0137 | -26 | c.89- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85769489 | ATATATAC others(19): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0063 others(57): Show |
60 | 135 | 0.4444 | -26 | c.89- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122323873 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 24 | 0.0417 | -26 | c.371 others(45): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 29/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122708520 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01346.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0073 others(20): Show |
23 | 79 | 0.2911 | -26 | c.453 others(45): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7333630 | CTATCTAA others(19): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 355 | 0.0028 | -26 | c.243 others(43): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
CALCRL_chr2_187336964_187453252 | 187341096 | CATATATA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01175.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0218 a0001c0002t0005g0190 |
2 | 15 | 0.1333 | -26 | c.*50 others(37): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 867 | chr2 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93460568 | AAAAAATA others(19): Show |
A | intron_variant | MODIFIER | NA18940.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 a0001c0001t0003g0235 |
2 | 272 | 0.0074 | -26 | c.648 others(41): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
CALHM4_chr6_116548751_116566127 | 116550003 | TATATATA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0017 | 1 | 406 | 0.0025 | -26 | c.-37 others(37): Show |
CALHM4 | ENSG00000164451.14 | transcript | ENST00000368596.4 | protein_coding | 3747 | chr6 | TogoVar | |||||||
CALHM5_chr6_116506639_116529788 | 116516660 | AATATATA others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 1 | 33 | 0.0303 | -26 | c.*69 others(35): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 695 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CALHM5_chr6_116506639_116529788 | 116516684 | TATATATA others(19): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG02486.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0003 a0001c0001t0013g0020 |
6 | 400 | 0.0150 | -26 | c.*69 others(35): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 697 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CALN1_chr7_71774491_72417338 | 71798101 | CAGAGAGA others(19): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01934.hp1 HG02129.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037 a0001c0001t0002g0036 a0001c0001t0003g0080 others(7): Show |
10 | 125 | 0.0800 | -26 | c.659 others(45): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 71897992 | AGAGAGAG others(19): Show |
A | intron_variant | MODIFIER | HG01109.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0041 | a0001c0001t0022g0001 a0001c0001t0041g0084 |
2 | 135 | 0.0148 | -26 | c.502 others(45): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 71971947 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0093 | 1 | 133 | 0.0075 | -26 | c.501 others(45): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72290079 | TAAAAAAA others(19): Show |
T | intron_variant | MODIFIER | HG03098.hp1 NA19240.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0033 | a0001c0001t0002g0074 a0001c0001t0005g0006 a0001c0001t0033g0115 |
3 | 5 | 0.6000 | -26 | c.120 others(45): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
CALR_chr19_12933609_12949489 | 12939888 | AGGCTCCA others(19): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 348 | 0.0029 | -26 | c.398 others(41): Show |
CALR | ENSG00000179218.15 | transcript | ENST00000316448.10 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12387392 | ATATATTT others(19): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00621.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0130 others(25): Show |
28 | 212 | 0.1321 | -26 | c.92+ others(43): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691352 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02486.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0133 a0001c0001t0002g0088 |
2 | 213 | 0.0094 | -26 | c.299 others(45): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691403 | AAATATAT others(19): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0110 | 1 | 212 | 0.0047 | -26 | c.299 others(45): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12734365 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039 | a0001c0001t0002g0139 a0001c0001t0039g0018 |
2 | 209 | 0.0096 | -26 | c.300 others(45): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK2N1_chr1_20477391_20491210 | 20490514 | CCACACAC others(19): Show |
C | upstream_gene_variant | MODIFIER | NA18994.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0022 | a0001c0001t0005g0005 a0001c0001t0022g0039 |
2 | 78 | 0.0256 | -26 | c.-51 others(37): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 4305 | chr1 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816694 | ACACATAT others(19): Show |
A | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 361 | 0.0028 | -26 | c.645 others(43): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816713 | TACACACG others(19): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 343 | 0.0029 | -26 | c.645 others(43): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816736 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 others(6): Show |
9 | 364 | 0.0247 | -26 | c.645 others(43): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | chr1 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816810 | ATATGTGT others(19): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 a0001c0001t0001g0335 a0001c0001t0001g0336 others(1): Show |
4 | 237 | 0.0169 | -26 | c.645 others(43): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7161509 | CTGTGCTG others(19): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 58 | 0.0172 | -26 | c.302 others(45): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7310698 | CTCTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0056 | 1 | 58 | 0.0172 | -26 | c.438 others(45): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398181 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0044 | 1 | 56 | 0.0179 | -26 | c.439 others(45): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398183 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0043 | 1 | 52 | 0.0192 | -26 | c.439 others(45): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398189 | CTCTCTAT others(19): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0045 | 1 | 52 | 0.0192 | -26 | c.439 others(45): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7463154 | CCTTCAGG others(19): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 1 | 58 | 0.0172 | -26 | c.439 others(43): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004267 | AGAGGAGT others(19): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0100 a0001c0002t0007g0101 a0001c0002t0007g0102 others(1): Show |
4 | 390 | 0.0103 | -26 | c.-14 others(45): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004439 | AGAGGAGT others(19): Show |
A | intron_variant | MODIFIER | HG00544.hp1 NA18980.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0184 a0001c0002t0005g0110 |
2 | 391 | 0.0051 | -26 | c.-14 others(45): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004643 | GGGAGCTG others(19): Show |
G | intron_variant | MODIFIER | NA18957.hp1 NA19002.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0010 | a0001c0002t0005g0159 a0001c0003t0010g0092 |
2 | 391 | 0.0051 | -26 | c.-14 others(45): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004869 | AGAGGAGT others(19): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0009 | a0001c0002t0007g0100 a0001c0002t0007g0101 a0001c0002t0007g0102 others(2): Show |
5 | 360 | 0.0139 | -26 | c.-14 others(45): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004914 | GGGAGCTG others(19): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG02027.hp1 HG02040.hp1 others(15): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0002 | a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0063 others(8): Show |
18 | 392 | 0.0459 | -26 | c.-14 others(45): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAP2_chr6_17388595_17562780 | 17500340 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 17 | 0.0588 | -26 | c.301 others(43): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30758746 | CCCTCCCT others(19): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG01928.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0146 a0001c0001t0001g0225 a0001c0001t0001g0236 others(5): Show |
8 | 382 | 0.0209 | -26 | c.775 others(41): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30796200 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0015 others(40): Show |
45 | 369 | 0.1220 | -26 | c.-32 others(43): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31190801 | TTTTACTC others(19): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 324 | 0.0031 | -26 | c.128 others(43): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 555920 | CCTCCCCT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0108 | 1 | 408 | 0.0025 | -26 | c.*24 others(37): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 1285 | chr16 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230751583 | AACAAAGA others(19): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01346.hp1 HG02135.hp2 others(7): Show |
a0001a0009a0014 | a0001c0002a0001c0005a0001c0018others(2): Show | a0001c0002t0001a0001c0005t0001a0001c0018t0001others(2): Show | a0001c0002t0001g0001 a0001c0002t0001g0021 a0001c0002t0001g0269 others(6): Show |
10 | 392 | 0.0255 | -26 | c.214 others(43): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230751585 | CAAAGAAA others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01070.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0037 others(35): Show |
41 | 322 | 0.1273 | -26 | c.214 others(43): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |