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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDKAL1_chr6_20529457_21237404 | 20645768 | AATTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(49): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0065others(49): Show | 52 | 196 | 0.2653 | -5 | c.287 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20658649 | TGTAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00642.hp1 others(86): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0007a0001c0001t0001g0070a0001c0001t0001g0071others(86): Show | 89 | 196 | 0.4541 | -5 | c.371 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20676698 | TAAATA | T | intron_variant | MODIFIER | HG00609.hp2 HG03017.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0045 | a0001c0001t0001g0065a0001c0002t0045g0153 | 2 | 196 | 0.0102 | -5 | c.371 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20682232 | TATCTG | T | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02559.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0001g0188a0001c0001t0001g0192a0001c0001t0005g0189others(16): Show | 19 | 196 | 0.0969 | -5 | c.371 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20707989 | GTATAT | G | intron_variant | MODIFIER | HG00673.hp2 HG01106.hp2 HG01243.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0007a0001c0001t0001g0070a0001c0001t0001g0071others(43): Show | 46 | 196 | 0.2347 | -5 | c.372 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20750951 | GAAAAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG01256.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0071a0001c0001t0001g0094a0001c0001t0002g0042others(14): Show | 17 | 196 | 0.0867 | -5 | c.469 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20752207 | ACTTCT | A | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0007a0001c0008t0011 | a0001c0005t0007g0084a0001c0008t0011g0181 | 2 | 196 | 0.0102 | -5 | c.469 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20778062 | ATAAAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0023a0001c0004t0018a0001c0005t0001others(1): Show | a0001c0001t0023g0115a0001c0004t0018g0017a0001c0005t0001g0009others(2): Show | 5 | 196 | 0.0255 | -5 | c.518 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 7/15 | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20797760 | CTTTAT | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0065a0001c0001t0001g0126others(34): Show | 37 | 196 | 0.1888 | -5 | c.638 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20798917 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG01361.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0096a0001c0001t0002g0139a0001c0001t0002g0168others(18): Show | 21 | 196 | 0.1071 | -5 | c.638 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20816129 | CCGCCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0071a0001c0001t0001g0096a0001c0001t0002g0139others(46): Show | 49 | 196 | 0.2500 | -5 | c.639 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20816130 | CGCCTT | C | intron_variant | MODIFIER | HG02818.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0034 | a0001c0001t0007g0164a0001c0002t0034g0182 | 2 | 196 | 0.0102 | -5 | c.639 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20835481 | TTTGTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(80): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0018others(80): Show | 83 | 196 | 0.4235 | -5 | c.639 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20855442 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01109.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0104a0001c0001t0002g0139a0001c0001t0002g0168others(29): Show | 32 | 196 | 0.1633 | -5 | c.742 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20899062 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(39): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0096a0001c0001t0001g0104a0001c0001t0002g0139others(39): Show | 42 | 196 | 0.2143 | -5 | c.742 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20918367 | CTGTTT | C | intron_variant | MODIFIER | HG02622.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0104a0001c0004t0001g0101 | 2 | 196 | 0.0102 | -5 | c.743 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20923432 | CTATTA | C | intron_variant | MODIFIER | HG00099.hp1 HG01361.hp1 HG01496.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0096a0001c0001t0001g0104a0001c0001t0002g0139others(15): Show | 18 | 196 | 0.0918 | -5 | c.743 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20975042 | CAAGAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02055.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0025a0001c0001t0031a0001c0002t0028others(5): Show | a0001c0001t0025g0021a0001c0001t0031g0004a0001c0002t0028g0103others(5): Show | 8 | 196 | 0.0408 | -5 | c.909 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21007482 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01255.hp1 HG01358.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0003others(12): Show | a0001c0001t0006g0011a0001c0002t0001g0174a0001c0002t0003g0170others(13): Show | 16 | 196 | 0.0816 | -5 | c.105 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21017870 | AAATTT | A | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01255.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0002a0001c0001t0006a0001c0005t0004others(7): Show | a0001c0001t0002g0141a0001c0001t0006g0011a0001c0005t0004g0033others(9): Show | 12 | 196 | 0.0612 | -5 | c.105 others(26): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21075115 | GTACAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0065others(46): Show | 49 | 196 | 0.2500 | -5 | c.123 others(24): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50323390 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02809.hp1 others(5): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0002g0197a0001c0001t0004g0148a0001c0001t0011g0282others(5): Show | 8 | 306 | 0.0261 | -5 | c.*66 others(16): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2874 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50333067 | ATAGAT | A | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0050a0001c0001t0058a0001c0001t0068others(11): Show | a0001c0001t0050g0107a0001c0001t0058g0110a0001c0001t0068g0152others(11): Show | 14 | 306 | 0.0458 | -5 | c.796 others(20): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50343061 | TAGAGA | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0115a0001c0001t0116others(1): Show | a0001c0001t0058g0110a0001c0001t0115g0223a0001c0001t0116g0219others(1): Show | 4 | 306 | 0.0131 | -5 | c.364 others(20): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50353529 | GAATTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(166): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(74): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(165): Show | 169 | 306 | 0.5523 | -5 | c.290 others(22): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50396185 | CAAAAA | C | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0019others(23): Show | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(53): Show | 56 | 306 | 0.1830 | -5 | c.-32 others(14): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | TogoVar | |||||
CDKL2_chr4_75571496_75635528 | 75571671 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0159a0001c0001t0001g0203a0001c0001t0001g0226others(10): Show | 13 | 306 | 0.0425 | -5 | c.*75 others(16): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 4824 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75627721 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137a0001c0001t0002g0138a0001c0001t0002g0139others(2): Show | 5 | 306 | 0.0163 | -5 | c.-29 others(22): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134310161 | CATTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(65): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(63): Show | 68 | 210 | 0.3238 | -5 | c.882 others(22): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134357438 | CAAAAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(67): Show | 72 | 210 | 0.3429 | -5 | c.360 others(22): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39202238 | CAAACA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(116): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(114): Show | 119 | 290 | 0.4103 | -5 | c.454 others(22): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 5/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39213889 | TTTTTG | T | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01123.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0189a0001c0001t0001g0208a0001c0001t0001g0215others(11): Show | 14 | 290 | 0.0483 | -5 | c.291 others(20): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18442467 | TTTTTG | T | intron_variant | MODIFIER | HG01358.hp1 HG02602.hp1 HG03209.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(4): Show | a0001c0001t0001g0115a0001c0001t0002g0128a0001c0001t0002g0169others(5): Show | 8 | 192 | 0.0417 | -5 | c.-16 others(26): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18509241 | ACACAC | A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0117 | 1 | 192 | 0.0052 | -5 | c.65- others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18518370 | GTTTTC | G | intron_variant | MODIFIER | HG02165.hp1 HG04184.hp2 NA18944.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0029others(1): Show | a0001c0001t0004g0183a0001c0001t0004g0184a0001c0001t0015g0188others(2): Show | 5 | 192 | 0.0260 | -5 | c.99+ others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18518388 | ATTTTT | A | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 192 | 0.0052 | -5 | c.99+ others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18528168 | AGTATT | A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 192 | 0.0052 | -5 | c.99+ others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18536432 | GTTTTT | G | intron_variant | MODIFIER | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0034a0001c0001t0035others(3): Show | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(4): Show | 7 | 192 | 0.0365 | -5 | c.99+ others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18606210 | AAACAC | A | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 192 | 0.0052 | -5 | c.194 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18617033 | CTTTTA | C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 192 | 0.0052 | -5 | c.227 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626716 | CTCTCT | C | intron_variant | MODIFIER | NA18974.hp1 NA19007.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0004a0004c0003t0036 | a0001c0001t0004g0182a0004c0003t0036g0008 | 2 | 192 | 0.0104 | -5 | c.249 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18638342 | TAAACA | T | 3_prime_UTR_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0178 | 1 | 192 | 0.0052 | -5 | c.*95 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9588 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
CDKL5_chrX_18420608_18645196 | 18642869 | CCGTCT | C | downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 192 | 0.0052 | -5 | c.*14 others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2674 | chrX | TogoVar | ||||||
CDKN1B_chr12_12712368_12727369 | 12726156 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG02293.hp1 HG02738.hp1 NA18939.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0003t0006others(1): Show | a0001c0001t0004g0008a0001c0001t0006g0008a0001c0001t0006g0027others(2): Show | 8 | 442 | 0.0181 | -5 | c.*51 others(16): Show |
CDKN1B | ENSG00000111276.12 | transcript | ENST00000228872.9 | protein_coding | 3788 | chr12 | TogoVar | ||||||
CDKN2AIPNL_chr5_134397065_134416881 | 134402085 | CATTTT | C | 3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 3 | 380 | 0.0079 | -5 | c.*82 others(14): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 3/3 | 825 | chr5 | TogoVar | |||||
CDKN2AIP_chr4_183439636_183454064 | 183447560 | GTTCTC | G | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0005t0010a0001c0005t0011others(1): Show | a0001c0001t0006g0002a0001c0005t0010g0005a0001c0005t0011g0002others(1): Show | 5 | 470 | 0.0106 | -5 | c.*13 others(14): Show |
CDKN2AIP | ENSG00000168564.6 | transcript | ENST00000504169.2 | protein_coding | 3/3 | 137 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
CDON_chr11_125951821_126067866 | 126004481 | AATATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(94): Show |
a0001a0002a0003others(7): Show | a0001c0004a0001c0035a0001c0065others(16): Show | a0001c0004t0003a0001c0004t0008a0001c0004t0022others(47): Show | a0001c0004t0003g0048a0001c0004t0003g0051a0001c0004t0003g0062others(92): Show | 97 | 334 | 0.2904 | -5 | c.185 others(22): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 9/19 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126059071 | TAAAAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02572.hp1 |
a0002 | a0002c0028a0002c0031 | a0002c0028t0101a0002c0031t0093a0002c0031t0094 | a0002c0028t0101g0311a0002c0031t0093g0309a0002c0031t0094g0310 | 3 | 334 | 0.0090 | -5 | c.-62 others(22): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74983010 | TTTATG | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01069.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0014others(39): Show | 45 | 352 | 0.1278 | -5 | c.-50 others(16): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 4621 | chr17 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74986112 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00673.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0014others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0083a0001c0001t0001g0084others(21): Show | 27 | 352 | 0.0767 | -5 | c.-19 others(16): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1519 | chr17 | TogoVar |