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 | 98891376 | CAAAAA | C | intron_variant | MODIFIER | HG02895.hp2 HG03490.hp2 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0246a0001c0001t0001g0253a0001c0001t0001g0254others(3): Show | 6 | 316 | 0.0190 | -5 | c.-11 others(24): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98918539 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(103): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0009others(102): Show | 106 | 316 | 0.3354 | -5 | c.-11 others(24): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56063066 | AGAAAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00642.hp2 others(83): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0003a0002c0006others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0051others(83): Show | 86 | 250 | 0.3440 | -5 | c.-33 others(26): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACD_chr4_56044098_56335609 | 56118740 | TATAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00642.hp1 others(43): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0003a0002c0031others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0031a0001c0001t0001g0051a0001c0001t0003g0105others(43): Show | 46 | 250 | 0.1840 | -5 | c.-33 others(26): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACD_chr4_56044098_56335609 | 56141682 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01069.hp1 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0112a0001c0001t0001g0213others(27): Show | 30 | 250 | 0.1200 | -5 | c.-33 others(26): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACD_chr4_56044098_56335609 | 56207802 | ATTTAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02922.hp2 |
a0001a0007 | a0001c0001a0007c0018a0007c0038 | a0001c0001t0001a0007c0018t0003a0007c0038t0002 | a0001c0001t0001g0102a0007c0018t0003g0097a0007c0038t0002g0099 | 3 | 250 | 0.0120 | -5 | c.-18 others(26): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACD_chr4_56044098_56335609 | 56213447 | AAAAAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp1 others(21): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0006a0003c0002others(15): Show | a0001c0001t0001a0001c0001t0004a0002c0006t0001others(16): Show | a0001c0001t0001g0031a0001c0001t0001g0102a0001c0001t0001g0114others(21): Show | 24 | 250 | 0.0960 | -5 | c.-18 others(26): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACR2A_chr12_3610328_3758109 | 3621648 | CAAAAA | C | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01167.hp1 others(6): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0003a0007c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0123a0001c0001t0001g0222others(6): Show | 9 | 320 | 0.0281 | -5 | c.193 others(24): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 17/19 | chr12 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3660882 | ACACAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0077others(10): Show | 13 | 320 | 0.0406 | -5 | c.672 others(22): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 7/19 | chr12 | TogoVar | ||||||
CRACR2B_chr11_822919_836986 | 832903 | CCGGGG | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG02818.hp1 HG04199.hp1 |
a0005a0006 | a0005c0004a0006c0005 | a0005c0004t0004a0006c0005t0001a0006c0005t0002 | a0005c0004t0004g0010a0006c0005t0001g0008a0006c0005t0002g0008 | 3 | 448 | 0.0067 | -5 | c.*11 others(16): Show |
CRACR2B | ENSG00000177685.17 | transcript | ENST00000525077.2 | protein_coding | 918 | chr11 | TogoVar | ||||||
CRADD_chr12_93672375_93855756 | 93806468 | AAAAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0071others(4): Show | 7 | 248 | 0.0282 | -5 | c.299 others(24): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CRADD_chr12_93672375_93855756 | 93810551 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0023a0001c0001t0001g0101others(4): Show | 7 | 248 | 0.0282 | -5 | c.299 others(24): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CRAT_chr9_129089794_129115793 | 129094242 | ACTCTC | A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02109.hp2 others(15): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0003a0001c0007t0006 | a0001c0004t0003g0015a0001c0004t0003g0020a0001c0004t0003g0021others(5): Show | 18 | 420 | 0.0429 | -5 | c.*11 others(16): Show |
CRAT | ENSG00000095321.18 | transcript | ENST00000318080.7 | protein_coding | 551 | chr9 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197284142 | TCTTAA | T | intron_variant | MODIFIER | HG02055.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0054 | 2 | 186 | 0.0108 | -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 | 197408682 | TTTAAC | T | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0073a0001c0001t0001g0182 | 3 | 186 | 0.0161 | -5 | c.117 others(26): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTT | G | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01106.hp2 HG01515.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0013others(1): Show | 17 | 390 | 0.0436 | -5 | c.-32 others(16): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | ||||||
CRBN_chr3_3145011_3184691 | 3168224 | CATCTA | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0037a0001c0001t0003g0081a0001c0001t0012g0035 | 5 | 376 | 0.0133 | -5 | c.528 others(20): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 4/10 | chr3 | TogoVar | ||||||
CRCP_chr7_66109847_66159568 | 66122632 | GTTGTT | G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01257.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0007a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0007g0136a0001c0001t0007g0147a0001c0001t0007g0148others(24): Show | 27 | 380 | 0.0711 | -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 | 66122951 | CTTTCT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0003g0175a0001c0001t0005g0308a0001c0001t0005g0309others(52): Show | 58 | 380 | 0.1526 | -5 | c.9-4 others(18): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CRCP_chr7_66109847_66159568 | 66124044 | CAAAAA | C | intron_variant | MODIFIER | HG01978.hp2 HG02145.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0297others(3): Show | 6 | 380 | 0.0158 | -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 | 207590082 | AGTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG00741.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0005g0029a0001c0001t0005g0263a0001c0001t0005g0268others(25): Show | 28 | 308 | 0.0909 | -5 | c.840 others(22): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 7/7 | chr2 | TogoVar | ||||||
CREB1_chr2_207524962_207610988 | 207605571 | GTGTTA | G | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0011others(5): Show | a0001c0001t0008g0007a0001c0001t0008g0008a0001c0001t0008g0177others(22): Show | 27 | 308 | 0.0877 | -5 | c.*85 others(16): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 8/8 | 8518 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CREB3L2_chr7_137869979_138007086 | 137870097 | TATATA | T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02280.hp1 others(19): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0011others(2): Show | a0001c0001t0008a0001c0001t0012a0001c0001t0020others(10): Show | a0001c0001t0008g0010a0001c0001t0008g0210a0001c0001t0008g0214others(19): Show | 22 | 288 | 0.0764 | -5 | c.*10 others(18): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 4881 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137927401 | AGGAAG | A | intron_variant | MODIFIER | HG01099.hp2 HG02145.hp2 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0046others(9): Show | a0001c0001t0001g0118a0001c0001t0008g0210a0001c0001t0046g0276others(10): Show | 13 | 288 | 0.0451 | -5 | c.319 others(20): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137960732 | GTGTTT | G | intron_variant | MODIFIER | HG02896.hp1 HG02970.hp1 NA18906.hp1 |
a0002 | a0002c0006 | a0002c0006t0017a0002c0006t0023a0002c0006t0025 | a0002c0006t0017g0020a0002c0006t0023g0219a0002c0006t0025g0168 | 3 | 288 | 0.0104 | -5 | c.103 others(24): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137997727 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0012others(200): Show | 205 | 288 | 0.7118 | -5 | c.102 others(22): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28446790 | TCAAAA | T | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0002g0116a0001c0001t0002g0140a0001c0001t0002g0143others(3): Show | 6 | 198 | 0.0303 | -5 | c.3+3 others(20): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28511998 | GAGCCA | G | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0002g0120a0001c0001t0009g0181a0001c0001t0011g0003others(2): Show | 5 | 198 | 0.0253 | -5 | c.291 others(22): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28513551 | CTTATA | C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00735.hp2 others(55): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0016others(55): Show | 58 | 198 | 0.2929 | -5 | c.291 others(22): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28538781 | ATATAT | A | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(4): Show | a0001c0001t0002g0166a0001c0001t0005g0122a0001c0001t0005g0163others(7): Show | 10 | 198 | 0.0505 | -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 | 28564918 | TATAAC | T | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0002g0166a0001c0001t0006g0096a0001c0001t0015g0167others(3): Show | 6 | 198 | 0.0303 | -5 | c.292 others(22): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28617672 | TAATTC | T | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091a0001c0001t0002g0139 | 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 | 28644188 | AGGAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0003g0112a0001c0001t0003g0148a0001c0001t0003g0150others(4): Show | 7 | 198 | 0.0354 | -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 | 28795727 | CATAAA | C | intron_variant | MODIFIER | HG02809.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028 | a0001c0001t0009g0181a0001c0001t0028g0037 | 2 | 198 | 0.0101 | -5 | c.703 others(22): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREBBP_chr16_3720054_3885713 | 3842967 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(190): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0012others(190): Show | 193 | 286 | 0.6748 | -5 | c.798 others(22): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849441 | GTGTGT | G | intron_variant | MODIFIER | HG01099.hp2 HG02071.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0008a0001c0014t0001 | a0001c0001t0001g0193a0001c0001t0008g0257a0001c0014t0001g0025 | 3 | 286 | 0.0105 | -5 | c.798 others(20): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849443 | GTGTGT | G | intron_variant | MODIFIER | HG02738.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0040a0001c0001t0051a0001c0005t0010 | a0001c0001t0040g0071a0001c0001t0051g0274a0001c0005t0010g0211 | 3 | 286 | 0.0105 | -5 | c.798 others(20): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849447 | GTGTGT | G | intron_variant | MODIFIER | HG03239.hp2 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0003 | a0001c0001t0001g0118a0001c0013t0003g0122a0001c0013t0003g0123 | 3 | 286 | 0.0105 | -5 | c.798 others(20): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3852153 | ATTTGT | A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02055.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0028a0001c0004t0048a0002c0006t0016others(2): Show | a0001c0001t0028g0001a0001c0004t0048g0264a0002c0006t0016g0267others(3): Show | 6 | 286 | 0.0210 | -5 | c.86- others(20): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12617643 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0025others(45): Show | 57 | 372 | 0.1532 | -5 | c.15+ others(20): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CREBL2_chr12_12606876_12650108 | 12643660 | CTCTAG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(162): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(145): Show | 165 | 372 | 0.4436 | -5 | c.*16 others(16): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 4/4 | 1690 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
CREBRF_chr5_173051352_173144284 | 173059260 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG02004.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0210a0001c0001t0002g0214a0001c0001t0002g0215others(5): Show | 8 | 292 | 0.0274 | -5 | c.-19 others(24): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173059654 | GAAAAT | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01099.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(9): Show | a0001c0001t0003g0010a0001c0001t0003g0011a0001c0001t0003g0012others(64): Show | 67 | 292 | 0.2295 | -5 | c.-19 others(24): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173082003 | GTTTTT | G | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG02071.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0012 | a0001c0001t0002g0232a0001c0001t0002g0233a0001c0001t0002g0236others(6): Show | 9 | 292 | 0.0308 | -5 | c.9+1 others(18): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173082908 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01099.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0010a0001c0001t0003g0040a0001c0001t0003g0041others(26): Show | 29 | 292 | 0.0993 | -5 | c.9+2 others(18): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173088255 | CTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG01981.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0206a0001c0001t0002g0211a0001c0001t0002g0232others(9): Show | 12 | 292 | 0.0411 | -5 | c.135 others(22): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173106732 | CTATTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(101): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0002g0209others(101): Show | 104 | 292 | 0.3562 | -5 | c.122 others(24): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173120683 | CTTTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01243.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0014 | a0001c0001t0002g0215a0001c0001t0002g0220a0001c0001t0002g0275others(5): Show | 8 | 292 | 0.0274 | -5 | c.168 others(24): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173129106 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(84): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0205a0001c0001t0002g0209a0001c0001t0002g0210others(84): Show | 87 | 292 | 0.2980 | -5 | c.180 others(24): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173132405 | TCCCTC | T | intron_variant | MODIFIER | HG01123.hp1 HG02015.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0111a0001c0001t0001g0155others(5): Show | 8 | 292 | 0.0274 | -5 | c.180 others(24): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |