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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRADD_chr12_93672375_93855756 | 93846454 | T | TTTTTG | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00735.hp1 others(122): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(122): Show |
125 | 248 | 0.5040 | 5 | c.299 others(22): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197295983 | T | TTTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(135): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(135): Show |
138 | 186 | 0.7419 | 5 | c.70+ others(22): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197327104 | A | ACAAAC | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0060 a0001c0002t0001g0061 |
2 | 186 | 0.0108 | 5 | c.71- others(20): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
CRB1_chr1_197263252_197483455 | 197348904 | T | TTTTAA | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02055.hp1 others(42): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0057 others(42): Show |
45 | 186 | 0.2419 | 5 | c.988 others(22): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197450784 | C | CAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp1 HG02056.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0076 others(3): Show |
6 | 186 | 0.0323 | 5 | c.400 others(24): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197460001 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(35): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0024 others(35): Show |
38 | 186 | 0.2043 | 5 | c.400 others(26): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB2_chr9_123351197_123383753 | 123352024 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02886.hp1 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0025a0002c0037a0002c0045others(2): Show | a0001c0025t0002a0002c0037t0013a0002c0045t0013others(2): Show | a0001c0025t0002g0071 a0001c0025t0002g0072 a0002c0037t0013g0177 others(3): Show |
6 | 432 | 0.0139 | 5 | c.-42 others(16): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 4172 | chr9 | TogoVar | |||||||
CRB2_chr9_123351197_123383753 | 123378798 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01074.hp2 others(9): Show |
a0001a0002a0018 | a0001c0002a0001c0009a0001c0013others(2): Show | a0001c0002t0002a0001c0009t0002a0001c0013t0002others(2): Show | a0001c0002t0002g0008 a0001c0009t0002g0250 a0001c0009t0002g0255 others(5): Show |
12 | 432 | 0.0278 | 5 | c.*17 others(16): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 46 | chr9 | TogoVar | |||||||
CRB3_chr19_6459271_6472221 | 6470620 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0002t0001g0001 others(3): Show |
23 | 390 | 0.0590 | 5 | c.*39 others(16): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3400 | chr19 | TogoVar | |||||||
CRCP_chr7_66109847_66159568 | 66122374 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG01361.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0177 a0001c0001t0003g0176 a0001c0001t0003g0178 others(9): Show |
12 | 380 | 0.0316 | 5 | c.9-5 others(18): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CRCP_chr7_66109847_66159568 | 66124044 | C | CAAAAA | intron_variant | MODIFIER | HG01934.hp1 NA18947.hp1 NA18949.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 a0001c0001t0006g0094 a0001c0001t0006g0112 others(10): Show |
14 | 380 | 0.0368 | 5 | c.9-3 others(18): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB1_chr2_207524962_207610988 | 207575934 | T | TCCCCC | intron_variant | MODIFIER | HG01952.hp1 HG02027.hp1 HG02155.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0083 a0001c0001t0002g0209 others(10): Show |
13 | 308 | 0.0422 | 5 | c.688 others(20): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CREB1_chr2_207524962_207610988 | 207578785 | C | CAAGTG | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0054a0001c0001t0059 | a0001c0001t0003g0299 a0001c0001t0054g0297 a0001c0001t0059g0298 |
3 | 308 | 0.0097 | 5 | c.839 others(22): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CREB3L1_chr11_46272662_46326409 | 46324713 | G | GAAAGA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0015 | a0001c0001t0003g0008 a0001c0001t0003g0082 a0001c0001t0003g0083 others(4): Show |
9 | 304 | 0.0296 | 5 | c.*39 others(16): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 3305 | chr11 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137879934 | G | GGAGAC | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02258.hp1 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0012a0001c0001t0020a0001c0001t0032others(10): Show | a0001c0001t0012g0062 a0001c0001t0012g0119 a0001c0001t0012g0121 others(17): Show |
20 | 288 | 0.0694 | 5 | c.*53 others(14): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 12/12 | 541 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137901874 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02717.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0011others(1): Show | a0001c0001t0003a0001c0001t0012a0001c0001t0039others(4): Show | a0001c0001t0003g0055 a0001c0001t0012g0121 a0001c0001t0039g0216 others(5): Show |
8 | 288 | 0.0278 | 5 | c.975 others(20): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137918196 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(185): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(184): Show |
188 | 288 | 0.6528 | 5 | c.320 others(22): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137927261 | C | CGGAAA | intron_variant | MODIFIER | HG00597.hp2 HG02056.hp1 HG02071.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0074 a0002c0002t0001g0023 a0002c0002t0001g0133 others(11): Show |
14 | 288 | 0.0486 | 5 | c.319 others(20): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137946766 | T | TATATA | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01261.hp2 others(57): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0001g0124 a0001c0001t0003g0055 a0001c0001t0005g0030 others(57): Show |
60 | 288 | 0.2083 | 5 | c.103 others(24): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137960809 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG00738.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0129 others(31): Show |
34 | 288 | 0.1181 | 5 | c.103 others(24): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137972708 | A | AACAAC | intron_variant | MODIFIER | HG00609.hp1 HG01081.hp2 HG01169.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0063others(1): Show | a0001c0001t0003g0042 a0001c0001t0003g0055 a0001c0001t0011g0199 others(2): Show |
6 | 288 | 0.0208 | 5 | c.102 others(24): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137977952 | A | AGGAGG | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01261.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0124 a0001c0001t0001g0209 a0001c0001t0002g0142 others(8): Show |
11 | 288 | 0.0382 | 5 | c.102 others(24): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137995333 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01884.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0016others(15): Show | a0001c0001t0005g0022 a0001c0001t0005g0035 a0001c0001t0006g0024 others(17): Show |
20 | 288 | 0.0694 | 5 | c.102 others(22): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 138003396 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02280.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0020a0001c0004t0010others(4): Show | a0001c0001t0001g0050 a0001c0001t0020g0277 a0001c0004t0010g0278 others(4): Show |
7 | 288 | 0.0243 | 5 | c.-16 others(16): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1311 | chr7 | TogoVar | |||||||
CREB3L3_chr19_4148631_4178054 | 4162516 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00639.hp1 others(125): Show |
a0001a0008a0010others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(114): Show |
128 | 404 | 0.3168 | 5 | c.577 others(22): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28440816 | A | ATTTCT | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0116 a0001c0001t0002g0143 a0001c0001t0010g0144 |
3 | 198 | 0.0152 | 5 | c.3+2 others(20): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28530570 | C | CAAAGT | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0002g0191 a0001c0001t0005g0095 a0001c0001t0016g0168 others(1): Show |
4 | 198 | 0.0202 | 5 | c.291 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28538043 | A | ATTGTT | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0043 others(56): Show |
59 | 198 | 0.2980 | 5 | c.291 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28538045 | C | CGTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 a0001c0001t0002g0140 |
2 | 198 | 0.0101 | 5 | c.291 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28599722 | G | GTGTTT | intron_variant | MODIFIER | NA19240.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0017 a0001c0001t0012g0141 |
2 | 198 | 0.0101 | 5 | c.464 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28611489 | T | TAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01884.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0166 a0001c0001t0002g0176 a0001c0001t0003g0069 others(11): Show |
14 | 198 | 0.0707 | 5 | c.464 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28672188 | A | ACACAC | intron_variant | MODIFIER | HG00558.hp2 HG02135.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0022 | a0001c0001t0004g0098 a0001c0001t0017g0115 a0001c0001t0022g0066 |
3 | 198 | 0.0152 | 5 | c.465 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28679052 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0043 others(45): Show |
48 | 198 | 0.2424 | 5 | c.465 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28705378 | A | AAAAAG | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG00735.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0089 others(59): Show |
62 | 198 | 0.3131 | 5 | c.465 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28705386 | G | GAAAGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0078 a0001c0001t0002g0033 others(61): Show |
64 | 198 | 0.3232 | 5 | c.465 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28717086 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG00738.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0143 a0001c0001t0003g0006 a0001c0001t0003g0010 others(21): Show |
24 | 198 | 0.1212 | 5 | c.465 others(22): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28732843 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00735.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0031 others(23): Show |
26 | 198 | 0.1313 | 5 | c.702 others(22): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28816583 | T | TTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0023 others(161): Show |
164 | 198 | 0.8283 | 5 | c.125 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28824090 | A | ATACTT | 3_prime_UTR_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02055.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0005g0002 a0001c0001t0005g0026 a0001c0001t0005g0054 others(22): Show |
25 | 198 | 0.1263 | 5 | c.*48 others(16): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 11/11 | 4820 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREBBP_chr16_3720054_3885713 | 3768136 | G | GTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02015.hp1 others(9): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0013others(5): Show | a0001c0001t0001g0070 a0001c0001t0001g0170 a0001c0001t0001g0186 others(9): Show |
12 | 286 | 0.0420 | 5 | c.306 others(22): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 15/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3794331 | C | CAAAAA | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01952.hp2 others(7): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0092 a0001c0001t0001g0112 others(7): Show |
10 | 286 | 0.0350 | 5 | c.976 others(20): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 3/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3803260 | C | CGGGGG | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG01255.hp2 others(15): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0121 others(15): Show |
18 | 286 | 0.0629 | 5 | c.975 others(22): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 3/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3879030 | T | TTAACA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(269): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(269): Show |
272 | 286 | 0.9511 | 5 | c.85+ others(18): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
CREBL2_chr12_12606876_12650108 | 12641247 | A | ATTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG02080.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0083 others(4): Show |
7 | 372 | 0.0188 | 5 | c.359 others(20): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12641250 | A | ATTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00639.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 others(36): Show |
45 | 372 | 0.1210 | 5 | c.359 others(20): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12641253 | A | ATTATT | intron_variant | MODIFIER | HG01168.hp1 HG03209.hp1 NA18947.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0018 | a0001c0001t0002g0102 a0001c0001t0002g0126 a0001c0001t0002g0128 others(2): Show |
5 | 372 | 0.0134 | 5 | c.359 others(20): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12641253 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01517.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0024others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0016 others(20): Show |
28 | 372 | 0.0753 | 5 | c.359 others(20): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12641254 | T | TTATTA | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG01934.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0017 | a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0127 others(3): Show |
6 | 372 | 0.0161 | 5 | c.359 others(20): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12643660 | C | CTCTAG | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 a0001c0001t0009g0116 a0001c0001t0009g0117 |
4 | 372 | 0.0108 | 5 | c.*16 others(16): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 4/4 | 1695 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CREBL2_chr12_12606876_12650108 | 12647210 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01081.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(44): Show |
51 | 372 | 0.1371 | 5 | c.*52 others(16): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 2103 | chr12 | TogoVar |