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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(6): Show |
57 | 385 | 0.1481 | -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 | a0001c0001t0002g0011 a0001c0001t0002g0022 |
2 | 27 | 0.0741 | -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 | a0001c0001t0026g0089 | 1 | 354 | 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 | a0001c0001t0006g0240 | 1 | 39 | 0.0256 | -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 | a0001c0001t0001g0040 | 2 | 322 | 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 | a0001c0001t0001g0183 | 1 | 212 | 0.0047 | -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 | a0002c0085t0001 | a0002c0085t0001g0085 | 1 | 216 | 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 | a0001c0004t0001g0075 | 1 | 214 | 0.0047 | -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 | a0008 | a0008c0050 | a0008c0050t0006 | a0008c0050t0006g0115 | 1 | 246 | 0.0041 | -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 | a0001c0013t0042a0001c0013t0049 | a0001c0013t0042g0102 a0001c0013t0049g0095 |
2 | 17 | 0.1176 | -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 | a0029 | a0029c0062 | a0029c0062t0001 | a0029c0062t0001g0243 | 1 | 312 | 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 | a0001c0001t0001g0037 a0001c0005t0001g0052 |
2 | 114 | 0.0175 | -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 | 65 | 0.0154 | -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 | a0001c0003t0001g0026 a0001c0003t0001g0042 |
2 | 115 | 0.0174 | -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 | a0001c0001t0006g0005 a0001c0001t0006g0017 a0001c0001t0007g0088 others(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 | a0001c0001t0040a0001c0002t0002 | a0001c0001t0040g0076 a0001c0002t0002g0147 |
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 | 167 | 0.0060 | -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 | a0001c0001t0001a0001c0001t0034a0001c0002t0002others(1): Show | a0001c0001t0001g0058 a0001c0001t0034g0086 a0001c0002t0002g0147 others(1): Show |
4 | 182 | 0.0220 | -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 | a0001c0001t0034a0001c0002t0002 | a0001c0001t0034g0196 a0001c0002t0002g0203 |
2 | 300 | 0.0067 | -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 | a0001c0002t0004 | a0001c0002t0004g0089 | 1 | 296 | 0.0034 | -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 | 241 | 0.0041 | -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 | a0001c0001t0001a0001c0001t0024a0001c0002t0002others(1): Show | a0001c0001t0001g0091 a0001c0001t0024g0241 a0001c0002t0002g0203 others(1): Show |
4 | 274 | 0.0146 | -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 | a0001c0002t0002g0002 a0001c0002t0002g0076 a0001c0002t0002g0146 others(2): Show |
5 | 171 | 0.0292 | -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 | a0001c0001t0003g0158 | 1 | 350 | 0.0029 | -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 | a0001c0001t0018g0271 | 1 | 364 | 0.0027 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0002g0103 others(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 | a0001c0001t0050 | a0001c0001t0050g0158 | 1 | 163 | 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 | a0001c0001t0034 | a0001c0001t0034g0129 | 1 | 58 | 0.0172 | -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 | 145 | 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 | 65 | 0.0154 | -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 | a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0065 others(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 | 57 | 0.0175 | -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 | a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0226 |
3 | 133 | 0.0226 | -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 | a0001c0002t0005g0070 | 1 | 14 | 0.0714 | -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 | 290 | 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 | a0001c0002t0004 | a0001c0002t0004g0031 | 1 | 406 | 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 | 141 | 0.0071 | -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 | a0001c0001t0002g0089 a0001c0001t0006g0007 a0001c0001t0028g0015 |
3 | 118 | 0.0254 | -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 | a0001c0001t0001g0076 a0001c0001t0002g0118 a0001c0001t0010g0106 others(4): Show |
7 | 84 | 0.0833 | -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 | a0001c0002t0008g0113 a0001c0002t0008g0205 a0001c0002t0045g0118 |
3 | 213 | 0.0141 | -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 | 338 | 0.0030 | -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 | 16 | 0.0625 | -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 |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0021a0001c0002t0001others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0021g0014 others(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 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0001c0001t0011a0005c0007t0014 | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0036 others(2): Show |
5 | 20 | 0.2500 | -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 | a0001c0003t0002g0156 | 1 | 392 | 0.0026 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0124 |
3 | 19 | 0.1579 | -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 | 392 | 0.0026 | -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 | a0001c0001t0004g0144 | 1 | 351 | 0.0028 | -32 | c.775 others(47): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30759045 | TCCTTCCT others(25): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 371 | 0.0027 | -32 | c.775 others(47): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230800278 | GAAAGAAA others(25): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 392 | 0.0026 | -32 | c.204 others(51): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |