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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRB2_chr9_123351197_123383753 | 123378798 | GTTTTTTG others(5): Show |
G | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0190 | 1 | 432 | 0.0023 | -12 | c.*17 others(23): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 46 | chr9 | TogoVar | ||||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02451.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0007 | 2 | 390 | 0.0051 | -12 | c.-32 others(23): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | ||||||
CRBN_chr3_3145011_3184691 | 3183951 | AGTGTGTG others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 376 | 0.0027 | -12 | c.-42 others(23): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 4261 | chr3 | TogoVar | ||||||
CRCP_chr7_66109847_66159568 | 66151673 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022a0001c0001t0023others(1): Show | a0001c0001t0010g0140a0001c0001t0010g0141a0001c0001t0010g0142others(3): Show | 6 | 380 | 0.0158 | -12 | c.298 others(27): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CRCT1_chr1_152509482_152521008 | 152512802 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01934.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 2 | 432 | 0.0046 | -12 | c.-17 others(23): Show |
CRCT1 | ENSG00000169509.6 | transcript | ENST00000368790.4 | protein_coding | 1679 | chr1 | TogoVar | ||||||
CRCT1_chr1_152509482_152521008 | 152514136 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01978.hp1 NA19043.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0002 | a0001c0004t0001g0009a0002c0003t0002g0002 | 2 | 432 | 0.0046 | -12 | c.-43 others(21): Show |
CRCT1 | ENSG00000169509.6 | transcript | ENST00000368790.4 | protein_coding | 345 | chr1 | TogoVar | ||||||
CREB3L1_chr11_46272662_46326409 | 46302168 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0160a0001c0001t0003g0004a0001c0001t0003g0224others(2): Show | 8 | 304 | 0.0263 | -12 | c.331 others(29): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CREB3L1_chr11_46272662_46326409 | 46305640 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 304 | 0.0033 | -12 | c.332 others(29): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CREB3L2_chr7_137869979_138007086 | 137876331 | CGTGTGTG others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02922.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0020a0006c0012t0065 | a0001c0001t0020g0053a0001c0001t0020g0277a0001c0001t0020g0279others(1): Show | 4 | 288 | 0.0139 | -12 | c.*41 others(23): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 12/12 | 4133 | chr7 | TogoVar | |||||
CREB3L2_chr7_137869979_138007086 | 137894640 | GGAGTAAG others(5): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 288 | 0.0035 | -12 | c.104 others(31): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137899096 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0013a0001c0001t0057a0001c0004t0010others(4): Show | a0001c0001t0013g0268a0001c0001t0057g0244a0001c0004t0010g0200others(5): Show | 8 | 288 | 0.0278 | -12 | c.104 others(31): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137946832 | ATATATAG others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0025 | 1 | 288 | 0.0035 | -12 | c.103 others(31): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137946880 | CTATATAG others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01358.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001a0003c0003t0004others(1): Show | a0002c0002t0001g0133a0003c0003t0001g0001a0003c0003t0001g0127others(3): Show | 7 | 288 | 0.0243 | -12 | c.103 others(31): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137972736 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02486.hp1 HG02572.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0020a0001c0004t0031a0001c0007t0015others(7): Show | a0001c0001t0020g0053a0001c0004t0031g0009a0001c0007t0015g0120others(7): Show | 10 | 288 | 0.0347 | -12 | c.102 others(31): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137979728 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01261.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(6): Show | a0001c0001t0001g0124a0001c0001t0001g0209a0001c0001t0002g0142others(7): Show | 10 | 288 | 0.0347 | -12 | c.102 others(31): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137999379 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0001t0020others(3): Show | a0001c0001t0005g0030a0001c0001t0007g0029a0001c0001t0020g0277others(3): Show | 6 | 288 | 0.0208 | -12 | c.102 others(29): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 138001082 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0275 | 1 | 288 | 0.0035 | -12 | c.102 others(27): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L3_chr19_4148631_4178054 | 4156081 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(337): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(315): Show | 340 | 404 | 0.8416 | -12 | c.157 others(27): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28451450 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01081.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0048a0001c0001t0001g0053a0001c0001t0001g0060others(40): Show | 43 | 198 | 0.2172 | -12 | c.4-3 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28464496 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 198 | 0.0051 | -12 | c.4-2 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28475250 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0040a0001c0001t0001g0043a0001c0001t0001g0064others(20): Show | 23 | 198 | 0.1162 | -12 | c.4-1 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28524316 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0058a0001c0001t0001g0083a0001c0001t0002g0033others(7): Show | 10 | 198 | 0.0505 | -12 | c.291 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28560889 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0050 | 1 | 198 | 0.0051 | -12 | c.292 others(29): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28560995 | CCTGCGTG others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 198 | 0.0051 | -12 | c.292 others(29): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28561017 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0116others(13): Show | 16 | 198 | 0.0808 | -12 | c.292 others(29): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28590672 | TATAATAA others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0116others(10): Show | 13 | 198 | 0.0657 | -12 | c.464 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28607735 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01168.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0086a0001c0001t0001g0097others(18): Show | 21 | 198 | 0.1061 | -12 | c.464 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28608113 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0002g0140a0001c0001t0002g0165a0001c0001t0005g0163others(4): Show | 7 | 198 | 0.0354 | -12 | c.464 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28611672 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0086a0001c0001t0006g0124 | 2 | 198 | 0.0101 | -12 | c.464 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28612543 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02698.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0004a0001c0001t0001g0084a0001c0001t0025g0080 | 3 | 198 | 0.0152 | -12 | c.464 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28622259 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 198 | 0.0051 | -12 | c.464 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28737539 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp1 HG01934.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0041a0001c0001t0002g0166a0001c0001t0002g0176others(8): Show | 11 | 198 | 0.0556 | -12 | c.702 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28790450 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG01258.hp1 HG02602.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0094a0001c0001t0003g0177a0001c0001t0003g0189others(2): Show | 5 | 198 | 0.0253 | -12 | c.703 others(31): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREBBP_chr16_3720054_3885713 | 3764968 | GTTTTGTT others(5): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0028 | a0001c0028t0010 | a0001c0028t0010g0010 | 1 | 286 | 0.0035 | -12 | c.325 others(31): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3768136 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0283 | 1 | 286 | 0.0035 | -12 | c.306 others(29): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 15/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3794331 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0002 | 1 | 286 | 0.0035 | -12 | c.976 others(27): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 3/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3803260 | CGGGGAGG others(5): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG02698.hp2 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0025 | a0001c0001t0001g0115a0001c0023t0025g0282 | 2 | 286 | 0.0070 | -12 | c.975 others(29): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 3/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3814215 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01496.hp2 HG01516.hp1 others(35): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(17): Show | a0001c0001t0001g0018a0001c0001t0001g0078a0001c0001t0001g0133others(35): Show | 38 | 286 | 0.1329 | -12 | c.799 others(29): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3842967 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01256.hp1 others(15): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0034 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(4): Show | a0001c0001t0001g0050a0001c0001t0001g0125a0001c0001t0001g0127others(15): Show | 18 | 286 | 0.0629 | -12 | c.798 others(29): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849378 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 NA18955.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0075a0001c0002t0003g0213 | 2 | 286 | 0.0070 | -12 | c.798 others(27): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3852035 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0046a0001c0001t0005g0270 | 2 | 286 | 0.0070 | -12 | c.86- others(27): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12617643 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 372 | 0.0027 | -12 | c.15+ others(27): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173068649 | AAACCAGC others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0001a0001c0002t0003g0016a0001c0002t0003g0017others(16): Show | 19 | 292 | 0.0651 | -12 | c.-19 others(33): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173082003 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 292 | 0.0034 | -12 | c.9+1 others(25): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173082908 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01515.hp2 HG01516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0021 | a0001c0001t0001g0095a0001c0001t0001g0106a0001c0001t0001g0107others(4): Show | 7 | 292 | 0.0240 | -12 | c.9+2 others(25): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173104711 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014a0001c0001t0006g0015a0001c0001t0006g0060 | 3 | 292 | 0.0103 | -12 | c.122 others(31): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173130694 | ATTTATTT others(5): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 292 | 0.0034 | -12 | c.180 others(31): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173132450 | CCCCCCCT others(5): Show |
C | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0267 | 1 | 292 | 0.0034 | -12 | c.180 others(31): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBZF_chr11_85652990_85670129 | 85669001 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02155.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0004g0000others(3): Show | 7 | 392 | 0.0179 | -12 | c.-41 others(23): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | ||||||
CREBZF_chr11_85652990_85670129 | 85669401 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18979.hp2 NA19058.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0022 | a0001c0002t0002g0000a0001c0002t0022g0000 | 2 | 392 | 0.0051 | -12 | c.-45 others(23): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 4273 | chr11 | TogoVar |