| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CRACDL_chr2_98788846_98941225 | 98889285 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02056.hp1 HG03490.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0248a0001c0001t0001g0258others(2): Show | 5 | 316 | 0.0158 | 20 | c.-10 others(39): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
| CRACD_chr4_56044098_56335609 | 56070847 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01361.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0003c0002others(5): Show | a0001c0001t0034a0002c0003t0001a0003c0002t0002others(5): Show | a0001c0001t0034g0090a0002c0003t0001g0036a0002c0003t0001g0071others(8): Show | 11 | 250 | 0.0440 | 20 | c.-33 others(41): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56183235 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01074.hp1 others(35): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0003a0002c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0051a0001c0001t0001g0114a0001c0001t0003g0015others(35): Show | 38 | 250 | 0.1520 | 20 | c.-18 others(39): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56214681 | C | CTCTCTAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 250 | 0.0040 | 20 | c.-18 others(41): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56214681 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 250 | 0.0040 | 20 | c.-18 others(41): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56214681 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0024 | 1 | 250 | 0.0040 | 20 | c.-18 others(41): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56214681 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 NA18906.hp2 others(1): Show |
a0002a0007a0015others(1): Show | a0002c0006a0007c0018a0015c0013others(1): Show | a0002c0006t0001a0007c0018t0003a0015c0013t0005others(1): Show | a0002c0006t0001g0117a0007c0018t0003g0239a0015c0013t0005g0100others(1): Show | 4 | 250 | 0.0160 | 20 | c.-18 others(41): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACD_chr4_56044098_56335609 | 56214681 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0240 | 1 | 250 | 0.0040 | 20 | c.-18 others(41): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACR2A_chr12_3610328_3758109 | 3621648 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG02071.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0085a0001c0001t0001g0099a0001c0001t0001g0177others(10): Show | 13 | 320 | 0.0406 | 20 | c.193 others(39): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 17/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3626216 | T | TGCAAAAC others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG02109.hp2 others(5): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0007c0008t0001 | a0001c0001t0001g0048a0001c0001t0001g0068a0001c0001t0001g0072others(5): Show | 8 | 320 | 0.0250 | 20 | c.193 others(39): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 17/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3639457 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp1 others(51): Show |
a0001a0003a0004others(10): Show | a0001c0001a0003c0003a0004c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0041others(51): Show | 54 | 320 | 0.1688 | 20 | c.127 others(39): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3666330 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 320 | 0.0031 | 20 | c.672 others(37): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 7/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3666354 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 320 | 0.0031 | 20 | c.672 others(37): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 7/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3666364 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0029 | a0029c0026 | a0029c0026t0002 | a0029c0026t0002g0092 | 1 | 320 | 0.0031 | 20 | c.672 others(37): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 7/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3720225 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0018 | a0018c0030 | a0018c0030t0002 | a0018c0030t0002g0209 | 1 | 320 | 0.0031 | 20 | c.-11 others(39): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3720416 | G | GAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01256.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0027a0001c0001t0001g0039a0001c0001t0001g0138others(5): Show | 8 | 320 | 0.0250 | 20 | c.-11 others(39): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3720464 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03471.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033a0001c0001t0002g0274a0001c0001t0002g0276 | 3 | 320 | 0.0094 | 20 | c.-11 others(39): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
| CRACR2A_chr12_3610328_3758109 | 3745780 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01109.hp2 others(19): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0018a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0018t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0099a0001c0001t0001g0134others(18): Show | 22 | 320 | 0.0688 | 20 | c.-38 others(39): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
| CRADD_chr12_93672375_93855756 | 93790912 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243a0001c0001t0002g0244 | 2 | 248 | 0.0081 | 20 | c.299 others(39): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CRB1_chr1_197263252_197483455 | 197319259 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 186 | 0.0054 | 20 | c.71- others(35): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CRB1_chr1_197263252_197483455 | 197354860 | A | ACCCCCCC others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 186 | 0.0054 | 20 | c.989 others(37): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CRB2_chr9_123351197_123383753 | 123378798 | G | GTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 432 | 0.0023 | 20 | c.*17 others(31): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 46 | chr9 | TogoVar | ||||||
| CRB2_chr9_123351197_123383753 | 123378798 | G | GTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 NA18747.hp2 NA19012.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006a0001c0029 | a0001c0002t0002a0001c0006t0002a0001c0029t0002 | a0001c0002t0002g0266a0001c0006t0002g0156a0001c0029t0002g0008others(1): Show | 4 | 432 | 0.0093 | 20 | c.*17 others(31): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 46 | chr9 | TogoVar | ||||||
| CRBN_chr3_3145011_3184691 | 3184000 | G | GTGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0108 | 1 | 376 | 0.0027 | 20 | c.-43 others(31): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 4310 | chr3 | TogoVar | ||||||
| CREB3L1_chr11_46272662_46326409 | 46305690 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0084 | 1 | 304 | 0.0033 | 20 | c.332 others(37): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CREB3L2_chr7_137869979_138007086 | 137899096 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp2 NA18952.hp1 |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0008a0001c0007t0066a0003c0003t0004 | a0001c0001t0008g0214a0001c0007t0066g0239a0003c0003t0004g0233 | 3 | 288 | 0.0104 | 20 | c.104 others(39): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137969761 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 288 | 0.0035 | 20 | c.102 others(39): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CREB3L3_chr19_4148631_4178054 | 4163328 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 404 | 0.0025 | 20 | c.577 others(37): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CREB3L3_chr19_4148631_4178054 | 4163351 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01081.hp1 others(26): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0163a0001c0001t0001g0263others(22): Show | 29 | 404 | 0.0718 | 20 | c.577 others(37): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CREB3L3_chr19_4148631_4178054 | 4163351 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0250 | 2 | 404 | 0.0050 | 20 | c.577 others(37): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CREB3L3_chr19_4148631_4178054 | 4167482 | A | AAGAAAGA others(13): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 404 | 0.0025 | 20 | c.715 others(35): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28486670 | T | TTAAATAT others(13): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0138 | 1 | 198 | 0.0051 | 20 | c.4-1 others(33): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28486670 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG02004.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0064a0001c0001t0001g0089others(3): Show | 6 | 198 | 0.0303 | 20 | c.4-1 others(33): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28555109 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0089others(13): Show | 16 | 198 | 0.0808 | 20 | c.292 others(39): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28560897 | C | CGTGCGTG others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0126 | 1 | 198 | 0.0051 | 20 | c.292 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28561025 | C | CGTGCGTG others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0095 | 1 | 198 | 0.0051 | 20 | c.292 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28638264 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0183a0001c0001t0007g0059 | 2 | 198 | 0.0101 | 20 | c.464 others(39): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28658959 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 198 | 0.0051 | 20 | c.465 others(39): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28737539 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0173 | 1 | 198 | 0.0051 | 20 | c.702 others(39): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28775543 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01123.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0053a0001c0001t0001g0089others(6): Show | 9 | 198 | 0.0455 | 20 | c.703 others(39): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28794743 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0035 | a0001c0001t0002g0091a0001c0001t0035g0138 | 2 | 198 | 0.0101 | 20 | c.703 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREBBP_chr16_3720054_3885713 | 3759588 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02004.hp1 HG02015.hp1 others(17): Show |
a0001a0004a0008 | a0001c0002a0001c0005a0001c0009others(6): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0012others(12): Show | a0001c0002t0002g0217a0001c0002t0003g0196a0001c0002t0003g0212others(17): Show | 20 | 286 | 0.0699 | 20 | c.325 others(37): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | ||||||
| CREBBP_chr16_3720054_3885713 | 3802114 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 286 | 0.0035 | 20 | c.975 others(37): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 3/30 | chr16 | TogoVar | ||||||
| CREBBP_chr16_3720054_3885713 | 3849378 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0006 | a0002c0006t0016 | a0002c0006t0016g0267 | 1 | 286 | 0.0035 | 20 | c.798 others(35): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
| CREBBP_chr16_3720054_3885713 | 3851860 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 286 | 0.0035 | 20 | c.86- others(33): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
| CREBRF_chr5_173051352_173144284 | 173082013 | T | TGTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 292 | 0.0034 | 20 | c.9+1 others(33): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | chr5 | TogoVar | ||||||
| CREBRF_chr5_173051352_173144284 | 173082013 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0184 | 1 | 292 | 0.0034 | 20 | c.9+1 others(33): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CREBRF_chr5_173051352_173144284 | 173100118 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 292 | 0.0034 | 20 | c.122 others(39): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CREBRF_chr5_173051352_173144284 | 173117557 | T | TCCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0282 | 1 | 292 | 0.0034 | 20 | c.168 others(39): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CREBRF_chr5_173051352_173144284 | 173132405 | T | TCCCTCCC others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0098 | 1 | 292 | 0.0034 | 20 | c.180 others(39): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |