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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C8B_chr1_56924207_56971015 | 56941494 | GTAGATAG others(25): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 402 | 0.0025 | -32 | c.123 others(49): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
C8G_chr9_136940243_136951975 | 136945466 | TTGGGGGG others(25): Show |
T | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 416 | 0.0024 | -32 | c.138 others(45): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
C8orf33_chr8_145047467_145061030 | 145052253 | GCTCCCCG others(25): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00735.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0001others(6): Show | 57 | 406 | 0.1404 | -32 | c.-23 others(41): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 213 | chr8 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51878829 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045a0001c0001t0002g0056 | 2 | 156 | 0.0128 | -32 | c.279 others(51): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63325411 | TAGAGTAT others(25): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0090 | 1 | 356 | 0.0028 | -32 | c.*84 others(41): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 11/11 | 842 | chr15 | TogoVar | |||||
CA1_chr8_85322608_85383113 | 85338632 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0249 | 1 | 324 | 0.0031 | -32 | c.38- others(45): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
CA1_chr8_85322608_85383113 | 85344262 | ATATAATA others(25): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 324 | 0.0062 | -32 | c.-24 others(49): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13346638 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 218 | 0.0046 | -32 | c.979 others(51): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497499 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0085 | a0002c0085t0005 | a0002c0085t0005g0085 | 1 | 218 | 0.0046 | -32 | c.293 others(49): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497513 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0078 | 1 | 218 | 0.0046 | -32 | c.293 others(49): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138099111 | GTGTGTGC others(25): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0020 | a0020c0052 | a0020c0052t0006 | a0020c0052t0006g0115 | 1 | 248 | 0.0040 | -32 | c.522 others(51): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53672758 | CTGTGTGT others(25): Show |
C | intron_variant | MODIFIER | HG04204.hp1 NA20905.hp1 |
a0001 | a0001c0013 | a0001c0013t0042a0001c0013t0050 | a0001c0013t0042g0102a0001c0013t0050g0095 | 2 | 210 | 0.0095 | -32 | c.111 others(49): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201079802 | GGTAGAAC others(25): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0031 | a0031c0062 | a0031c0062t0001 | a0031c0062t0001g0243 | 1 | 314 | 0.0032 | -32 | c.139 others(51): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646176 | CTCCCTCC others(25): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0037a0001c0005t0001g0052 | 2 | 118 | 0.0170 | -32 | c.116 others(51): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54821641 | GTTCTTTC others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0018 | 1 | 118 | 0.0085 | -32 | c.139 others(51): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822812 | TTTCTTTC others(25): Show |
T | intron_variant | MODIFIER | HG03041.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026a0001c0003t0001g0042 | 2 | 118 | 0.0170 | -32 | c.139 others(51): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220124 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0006g0005a0001c0001t0006g0017a0001c0001t0007g0088others(3): Show | 6 | 200 | 0.0300 | -32 | c.213 others(51): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18358521 | TCTCTCTC others(25): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0041a0001c0002t0002 | a0001c0001t0041g0074a0001c0002t0002g0147 | 2 | 200 | 0.0100 | -32 | c.214 others(51): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18442970 | GTGTATAT others(25): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 200 | 0.0050 | -32 | c.333 others(51): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481204 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0035a0001c0002t0002others(1): Show | a0001c0001t0001g0058a0001c0001t0035g0086a0001c0002t0002g0147others(1): Show | 4 | 200 | 0.0200 | -32 | c.334 others(51): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18358521 | TCTCTCTC others(25): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0037a0001c0002t0002 | a0001c0001t0037g0195a0001c0002t0002g0203 | 2 | 302 | 0.0066 | -32 | c.51+ others(49): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18442940 | ATGTGTAT others(25): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0089 | 1 | 302 | 0.0033 | -32 | c.171 others(51): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18442970 | GTGTATAT others(25): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0230 | 1 | 302 | 0.0033 | -32 | c.171 others(51): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481204 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0025a0001c0002t0002others(1): Show | a0001c0001t0001g0091a0001c0001t0025g0241a0001c0002t0002g0203others(1): Show | 4 | 302 | 0.0133 | -32 | c.172 others(51): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB4_chr2_151827771_152104044 | 151920140 | AAATAGAA others(25): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03209.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002a0001c0002t0002g0076a0001c0002t0002g0147others(2): Show | 5 | 230 | 0.0217 | -32 | c.148 others(51): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66965180 | ACACACAT others(25): Show |
A | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 352 | 0.0028 | -32 | c.220 others(45): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53930467 | GGTACACA others(25): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0274 | 1 | 364 | 0.0028 | -32 | c.425 others(51): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CADM1_chr11_115164236_115509415 | 115251424 | CTGACATT others(25): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01109.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0103a0001c0001t0004g0076a0001c0001t0004g0089others(23): Show | 26 | 164 | 0.1585 | -32 | c.125 others(51): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115400655 | GTGTGTGT others(25): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0158 | 1 | 164 | 0.0061 | -32 | c.124 others(53): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115400661 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0129 | 1 | 164 | 0.0061 | -32 | c.124 others(53): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85321110 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0133 | 1 | 146 | 0.0069 | -32 | c.61+ others(51): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(25): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 146 | 0.0069 | -32 | c.61+ others(51): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85657684 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(40): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0018a0001c0001t0001g0063a0001c0001t0001g0065others(40): Show | 43 | 146 | 0.2945 | -32 | c.62- others(49): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADPS2_chr7_122313411_122891460 | 122708520 | GATATATA others(25): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 126 | 0.0079 | -32 | c.453 others(51): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7358027 | GATATATA others(25): Show |
G | intron_variant | MODIFIER | NA18962.hp2 NA18978.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0202a0001c0001t0001g0226 | 3 | 360 | 0.0083 | -32 | c.219 others(51): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187341096 | CATATATA others(25): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0068 | 1 | 344 | 0.0029 | -32 | c.*50 others(43): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 867 | chr2 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93513771 | TAATATGT others(25): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0274 | 1 | 292 | 0.0034 | -32 | c.-26 others(51): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
CALHM4_chr6_116548751_116566127 | 116557556 | AGGACAGT others(25): Show |
A | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0031 | 1 | 408 | 0.0025 | -32 | c.559 others(47): Show |
CALHM4 | ENSG00000164451.14 | transcript | ENST00000368596.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CALN1_chr7_71774491_72417338 | 71798091 | GAGAGAGA others(25): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 142 | 0.0070 | -32 | c.659 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71798101 | CAGAGAGA others(25): Show |
C | intron_variant | MODIFIER | HG02132.hp2 NA18961.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0028 | a0001c0001t0002g0074a0001c0001t0006g0015a0001c0001t0028g0013 | 3 | 142 | 0.0211 | -32 | c.659 others(51): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72106730 | GAGGAAGG others(25): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0061a0001c0001t0002g0118a0001c0001t0010g0106others(4): Show | 7 | 142 | 0.0493 | -32 | c.245 others(47): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691372 | TATATAAA others(25): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0045 | a0001c0002t0008g0113a0001c0002t0008g0205a0001c0002t0045g0118 | 3 | 214 | 0.0140 | -32 | c.299 others(51): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMSAP1_chr9_135803487_135912546 | 135880534 | CAAGAGCA others(25): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0028 | a0001c0028t0029 | a0001c0028t0029g0323 | 1 | 340 | 0.0029 | -32 | c.585 others(49): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 3/16 | chr9 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6926438 | CTCTTTCT others(25): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 58 | 0.0172 | -32 | c.234 others(53): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7553216 | TGAGTGAA others(25): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02055.hp2 others(9): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0021a0001c0002t0001others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0021g0014others(9): Show | 12 | 58 | 0.2069 | -32 | c.510 others(51): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7602080 | TTTCCTTC others(25): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 HG03130.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0001c0001t0011a0006c0007t0014 | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0036others(2): Show | 5 | 58 | 0.0862 | -32 | c.511 others(51): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 79004505 | TAGGGAGA others(25): Show |
T | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0185 | 1 | 394 | 0.0025 | -32 | c.-14 others(51): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17500340 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02738.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0041a0001c0001t0001g0124 | 3 | 206 | 0.0146 | -32 | c.301 others(49): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN10_chr2_240581734_240604104 | 240602716 | GCCAGGCT others(25): Show |
G | downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 | 1 | 412 | 0.0024 | -32 | c.*40 others(43): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 3613 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30759024 | TTCCTTCC others(25): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0143 | 1 | 384 | 0.0026 | -32 | c.775 others(47): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar |