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 | 21098534 | CTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(31): Show | a0001c0001t0002g0124a0001c0001t0002g0139a0001c0001t0002g0168others(48): Show | 51 | 196 | 0.2602 | -3 | c.123 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21114247 | CAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01192.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0192a0001c0001t0002g0155a0001c0001t0003g0113others(32): Show | 35 | 196 | 0.1786 | -3 | c.129 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21191992 | CTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01943.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0018a0001c0001t0002g0124a0001c0001t0002g0155others(9): Show | 12 | 196 | 0.0612 | -3 | c.130 others(22): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21234333 | GATT | G | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02280.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0001a0001c0001t0004a0001c0006t0039others(1): Show | a0001c0001t0001g0096a0001c0001t0004g0031a0001c0001t0004g0097others(2): Show | 5 | 196 | 0.0255 | -3 | c.*32 others(14): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 1930 | chr6 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50323390 | CTTT | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0050a0001c0001t0058a0001c0001t0076others(9): Show | a0001c0001t0050g0107a0001c0001t0058g0110a0001c0001t0076g0155others(9): Show | 12 | 306 | 0.0392 | -3 | c.*66 others(14): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2874 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50327459 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG01993.hp2 HG02074.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0009a0002c0002t0027others(3): Show | a0002c0002t0005g0023a0002c0002t0005g0025a0002c0002t0005g0039others(17): Show | 20 | 306 | 0.0654 | -3 | c.*26 others(14): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2612 | chr14 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50332451 | CCTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0020a0006c0006t0124 | a0004c0004t0020g0221a0004c0004t0020g0222a0004c0004t0020g0224others(1): Show | 4 | 306 | 0.0131 | -3 | c.796 others(16): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50349742 | TTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(195): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(97): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(194): Show | 198 | 306 | 0.6471 | -3 | c.291 others(20): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50383550 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(182): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(83): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(180): Show | 185 | 306 | 0.6046 | -3 | c.168 others(22): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50385070 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG02015.hp1 HG02040.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0216a0001c0001t0004g0253a0001c0001t0004g0254others(7): Show | 10 | 306 | 0.0327 | -3 | c.168 others(22): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50392452 | AAAT | A | intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01071.hp1 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(23): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0085others(34): Show | 37 | 306 | 0.1209 | -3 | c.168 others(20): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50396185 | CAAA | C | 5_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0044a0001c0001t0136a0002c0002t0023others(3): Show | a0001c0001t0044g0259a0001c0001t0044g0260a0001c0001t0136g0298others(6): Show | 9 | 306 | 0.0294 | -3 | c.-32 others(12): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50399169 | ATTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(107): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(41): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(105): Show | 110 | 306 | 0.3595 | -3 | c.-28 others(14): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2289 | chr14 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75574389 | CAAA | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02559.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0019others(1): Show | a0001c0001t0002g0005a0001c0001t0002g0107a0001c0001t0002g0117others(5): Show | 8 | 306 | 0.0261 | -3 | c.*48 others(14): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 2106 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75587063 | GACA | G | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0012a0001c0001t0012g0013a0001c0001t0012g0014 | 3 | 306 | 0.0098 | -3 | c.164 others(22): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 12/13 | chr4 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134304686 | TAAG | T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0137 | 2 | 210 | 0.0095 | -3 | c.145 others(20): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134304832 | ATAT | A | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0170a0001c0001t0001g0171others(3): Show | 6 | 210 | 0.0286 | -3 | c.145 others(20): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134367368 | CTTT | C | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01257.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0053others(3): Show | 6 | 210 | 0.0286 | -3 | c.-41 others(12): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 198 | chr5 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134371473 | TCGG | T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG02300.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0081a0001c0001t0001g0090others(8): Show | 11 | 210 | 0.0524 | -3 | c.-45 others(14): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4303 | chr5 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39188560 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0080others(14): Show | 18 | 290 | 0.0621 | -3 | c.653 others(18): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 6/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39193356 | AATT | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0001a0002c0002t0001 | a0001c0001t0003g0010a0001c0003t0001g0012a0001c0003t0001g0014others(4): Show | 7 | 290 | 0.0241 | -3 | c.455 others(20): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 5/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39233912 | CTTT | C | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | 290 | 0.0276 | -3 | c.-56 others(20): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39243113 | CAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG02886.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0022a0001c0001t0001g0027a0001c0001t0003g0028others(4): Show | 7 | 290 | 0.0241 | -3 | c.-57 others(18): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18452819 | GTTT | G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0005 | 1 | 192 | 0.0052 | -3 | c.-16 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18465076 | TCCA | T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0138 | 1 | 192 | 0.0052 | -3 | c.-16 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18498091 | AAGT | A | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0123 | 1 | 192 | 0.0052 | -3 | c.-16 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18509243 | ACAC | A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0132 | 1 | 192 | 0.0052 | -3 | c.65- others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18517658 | CTGA | C | intron_variant | MODIFIER | NA18974.hp1 | a0004 | a0004c0003 | a0004c0003t0036 | a0004c0003t0036g0008 | 1 | 192 | 0.0052 | -3 | c.99+ others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18517760 | TTTG | T | intron_variant | MODIFIER | NA18974.hp1 | a0004 | a0004c0003 | a0004c0003t0036 | a0004c0003t0036g0008 | 1 | 192 | 0.0052 | -3 | c.99+ others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18518382 | TTTC | T | intron_variant | MODIFIER | HG01255.hp1 NA19002.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0028 | a0001c0001t0011g0179a0001c0001t0011g0180a0001c0001t0028g0175 | 3 | 192 | 0.0156 | -3 | c.99+ others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18518388 | ATTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0050 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0050g0058 | 3 | 192 | 0.0156 | -3 | c.99+ others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18522335 | CTTT | C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0005 | 1 | 192 | 0.0052 | -3 | 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 | 18536432 | GTTT | G | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0003g0020others(3): Show | 6 | 192 | 0.0313 | -3 | 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 | 18546258 | CTTT | C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0005 | 1 | 192 | 0.0052 | -3 | c.100 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18551559 | CATT | C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02630.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0072others(10): Show | 13 | 192 | 0.0677 | -3 | c.100 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18561046 | TTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0021others(3): Show | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(10): Show | 13 | 192 | 0.0677 | -3 | c.100 others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18572091 | AAAG | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0095a0001c0001t0024g0096 | 2 | 192 | 0.0104 | -3 | c.146 others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18606207 | CACA | C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0058 | 1 | 192 | 0.0052 | -3 | c.194 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626718 | CTCT | C | intron_variant | MODIFIER | HG02074.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0165a0001c0001t0011g0179 | 2 | 192 | 0.0104 | -3 | c.249 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18626720 | CTCT | C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 192 | 0.0052 | -3 | c.249 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18636311 | CAGG | C | 3_prime_UTR_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0058 | 1 | 192 | 0.0052 | -3 | c.*75 others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7555 | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18636336 | TTTA | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(19): Show | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(69): Show | 72 | 192 | 0.3750 | -3 | c.*76 others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7624 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
CDKL5_chrX_18420608_18645196 | 18640434 | ACCC | A | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0005 | 1 | 192 | 0.0052 | -3 | c.*11 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 239 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18642884 | ATAC | A | downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 192 | 0.0052 | -3 | c.*14 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2689 | chrX | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681370 | TTTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0231a0001c0001t0001g0289others(1): Show | 6 | 454 | 0.0132 | -3 | c.-6+ others(18): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKN1A_chr6_36673714_36692332 | 36681374 | TTTC | T | intron_variant | MODIFIER | HG00733.hp1 HG02135.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0008a0001c0001t0001g0145a0001c0001t0001g0151others(3): Show | 8 | 454 | 0.0176 | -3 | c.-6+ others(18): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKN1B_chr12_12712368_12727369 | 12723287 | ATTT | A | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02300.hp2 HG03239.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0020others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0004g0002others(2): Show | 11 | 442 | 0.0249 | -3 | c.*22 others(14): Show |
CDKN1B | ENSG00000111276.12 | transcript | ENST00000228872.9 | protein_coding | 919 | chr12 | TogoVar | ||||||
CDKN2AIP_chr4_183439636_183454064 | 183443395 | AGTT | A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0001a0001c0001t0014g0001 | 6 | 470 | 0.0128 | -3 | c.-14 others(14): Show |
CDKN2AIP | ENSG00000168564.6 | transcript | ENST00000504169.2 | protein_coding | 1240 | chr4 | TogoVar | ||||||
CDKN2AIP_chr4_183439636_183454064 | 183446405 | TCTG | T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show |
a0002a0008 | a0002c0002a0002c0012a0008c0007 | a0002c0002t0001a0002c0002t0003a0002c0002t0015others(2): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0003g0001others(3): Show | 144 | 470 | 0.3064 | -3 | c.723 others(10): Show |
p.Ala others(6): Show |
CDKN2AIP | ENSG00000168564.6 | transcript | ENST00000504169.2 | protein_coding | 3/3 | 885/3542 | 723/1743 | 241/580 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
CDKN2A_chr9_21962752_21979857 | 21964883 | CAAA | C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01123.hp1 HG01192.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(46): Show | 80 | 416 | 0.1923 | -3 | c.*33 others(14): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 2868 | chr9 | TogoVar |