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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDKAL1_chr6_20529457_21237404 | 20642899 | AAACAAC | A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01106.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0096 a0001c0001t0001g0192 a0001c0001t0002g0141 others(26): Show |
29 | 196 | 0.1480 | -6 | c.287 others(23): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20672252 | TTCTTTC | T | intron_variant | MODIFIER | HG01106.hp2 HG02129.hp1 HG02300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0010a0001c0002t0002 | a0001c0001t0003g0149 a0001c0001t0010g0051 a0001c0002t0002g0049 |
3 | 196 | 0.0153 | -6 | c.371 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20672293 | TCTCTCC | T | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01192.hp1 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0001g0007 a0001c0001t0001g0094 a0001c0001t0001g0136 others(37): Show |
40 | 196 | 0.2041 | -6 | c.371 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20694056 | GTGTGTA | G | intron_variant | MODIFIER | HG00621.hp2 HG01943.hp2 HG03831.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0010g0035 a0001c0002t0002g0047 a0001c0002t0003g0032 others(5): Show |
8 | 196 | 0.0408 | -6 | c.371 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20750951 | GAAAAAA | G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01106.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003 a0001c0001t0001g0065 a0001c0001t0001g0070 others(35): Show |
38 | 196 | 0.1939 | -6 | c.469 others(23): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20753957 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01106.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 others(31): Show |
34 | 196 | 0.1735 | -6 | c.469 others(23): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20757553 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0001g0188 others(60): Show |
63 | 196 | 0.3214 | -6 | c.469 others(23): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20810392 | TCACACA | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0126 a0001c0001t0001g0188 a0001c0001t0002g0155 others(21): Show |
24 | 196 | 0.1225 | -6 | c.638 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20810627 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(42): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0002g0139 others(42): Show |
45 | 196 | 0.2296 | -6 | c.638 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20822544 | ATAGGGT | A | intron_variant | MODIFIER | HG03471.hp1 HG03540.hp2 NA18906.hp1 |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 |
3 | 196 | 0.0153 | -6 | c.639 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20837937 | TTGTGTG | T | intron_variant | MODIFIER | HG02572.hp2 HG03130.hp1 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0010 | a0002c0003t0004g0132 a0002c0003t0010g0134 |
2 | 196 | 0.0102 | -6 | c.639 others(23): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20862635 | TTGTGTG | T | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0004t0001others(3): Show | a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0015g0186 others(4): Show |
7 | 196 | 0.0357 | -6 | c.742 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20899062 | CTTTTTT | C | intron_variant | MODIFIER | HG00609.hp2 HG01943.hp2 HG02273.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0010a0001c0001t0014others(8): Show | a0001c0001t0007g0043 a0001c0001t0010g0035 a0001c0001t0014g0067 others(10): Show |
13 | 196 | 0.0663 | -6 | c.742 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20902311 | TCACACA | T | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0017a0001c0006t0003 | a0001c0001t0017g0112 a0001c0006t0003g0029 |
2 | 196 | 0.0102 | -6 | c.743 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20909185 | ATGTGTG | A | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00639.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(15): Show | a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0007g0043 others(24): Show |
27 | 196 | 0.1378 | -6 | c.743 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20913116 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01192.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0015others(11): Show | a0001c0001t0003g0162 a0001c0001t0009g0138 a0001c0001t0015g0191 others(13): Show |
16 | 196 | 0.0816 | -6 | c.743 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20944366 | TGAGACG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 others(83): Show |
86 | 196 | 0.4388 | -6 | c.743 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20980192 | GATAGAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0002g0042 others(53): Show |
56 | 196 | 0.2857 | -6 | c.910 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20988182 | ATGTGTG | A | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0001t0031a0001c0002t0028 | a0001c0001t0025g0021 a0001c0001t0031g0004 a0001c0002t0028g0103 |
3 | 196 | 0.0153 | -6 | c.910 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21037803 | GATTTAC | G | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01255.hp1 others(9): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0004a0001c0005t0014a0001c0005t0016others(6): Show | a0001c0005t0004g0033 a0001c0005t0014g0093 a0001c0005t0016g0086 others(9): Show |
12 | 196 | 0.0612 | -6 | c.105 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21129682 | CAAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG02129.hp2 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0023a0001c0005t0001others(2): Show | a0001c0001t0002g0168 a0001c0001t0023g0169 a0001c0005t0001g0009 others(3): Show |
6 | 196 | 0.0306 | -6 | c.129 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21197113 | ATGCCAC | A | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp1 HG02257.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0016 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0001g0071 a0001c0001t0001g0188 a0001c0001t0004g0031 others(8): Show |
11 | 196 | 0.0561 | -6 | c.130 others(23): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21233952 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(5): Show | a0001c0001t0001g0136 a0001c0001t0001g0192 a0001c0001t0008g0016 others(7): Show |
10 | 196 | 0.0510 | -6 | c.*29 others(17): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 1549 | chr6 | TogoVar | |||||||
CDKL1_chr14_50321265_50401881 | 50329036 | CATATAT | C | 3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02559.hp2 HG03195.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0049a0001c0001t0074a0004c0004t0020 | a0001c0001t0049g0104 a0001c0001t0074g0153 a0004c0004t0020g0221 others(2): Show |
5 | 306 | 0.0163 | -6 | c.*10 others(17): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1032 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50346048 | GTGTTGC | G | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0129a0001c0001t0135 | a0001c0001t0043g0274 a0001c0001t0129g0264 a0001c0001t0135g0270 |
3 | 306 | 0.0098 | -6 | c.291 others(21): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | TogoVar | |||||||
CDKL1_chr14_50321265_50401881 | 50360786 | TTGTGTG | T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp2 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(29): Show | a0001c0001t0001g0054 a0001c0001t0004g0118 a0001c0001t0014g0247 others(37): Show |
41 | 306 | 0.1340 | -6 | c.169 others(23): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
CDKL1_chr14_50321265_50401881 | 50383567 | AAACAAC | A | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0073a0001c0001t0074a0001c0001t0076others(2): Show | a0001c0001t0073g0154 a0001c0001t0074g0153 a0001c0001t0076g0155 others(2): Show |
5 | 306 | 0.0163 | -6 | c.168 others(25): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
CDKL1_chr14_50321265_50401881 | 50396185 | CAAAAAA | C | 5_prime_UTR_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG01496.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0001c0001t0032a0001c0001t0046others(12): Show | a0001c0001t0031g0091 a0001c0001t0031g0093 a0001c0001t0032g0094 others(14): Show |
17 | 306 | 0.0556 | -6 | c.-32 others(15): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75571671 | GTTTTTT | G | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01070.hp2 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0163 a0001c0001t0001g0181 others(55): Show |
58 | 306 | 0.1895 | -6 | c.*75 others(17): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 4824 | chr4 | TogoVar | |||||||
CDKL3_chr5_134293424_134372171 | 134297890 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01169.hp2 HG01928.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0044 others(25): Show |
28 | 210 | 0.1333 | -6 | c.*75 others(15): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 533 | chr5 | TogoVar | |||||||
CDKL3_chr5_134293424_134372171 | 134326817 | GTATATA | G | intron_variant | MODIFIER | HG01099.hp1 HG02647.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 others(1): Show |
4 | 210 | 0.0191 | -6 | c.540 others(23): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | TogoVar | |||||||
CDKL3_chr5_134293424_134372171 | 134363975 | AAAAGAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(46): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(45): Show |
49 | 210 | 0.2333 | -6 | c.165 others(23): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39185211 | TATATAC | T | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0029 a0001c0001t0006g0011 a0001c0001t0006g0073 |
3 | 290 | 0.0103 | -6 | c.736 others(21): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39185384 | ATACATG | A | intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0010 a0001c0001t0006g0011 a0001c0001t0006g0073 |
3 | 290 | 0.0103 | -6 | c.736 others(21): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39243113 | CAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG01884.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(6): Show |
9 | 290 | 0.0310 | -6 | c.-57 others(21): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CDKL5_chrX_18420608_18645196 | 18509091 | AACACAC | A | intron_variant | MODIFIER | HG02015.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0025 a0001c0001t0014g0091 |
2 | 192 | 0.0104 | -6 | c.65- others(21): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18509197 | GCACACA | G | intron_variant | MODIFIER | HG00544.hp1 HG02055.hp1 HG02293.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0008g0097 others(3): Show |
6 | 192 | 0.0313 | -6 | c.65- others(21): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18518382 | TTTCTTA | T | intron_variant | MODIFIER | HG00673.hp1 HG02074.hp1 HG03927.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0015others(1): Show | a0001c0001t0004g0165 a0001c0001t0004g0185 a0001c0001t0010g0173 others(2): Show |
5 | 192 | 0.0260 | -6 | c.99+ others(21): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18536432 | GTTTTTT | G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0005 | 1 | 192 | 0.0052 | -6 | c.99+ others(23): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18551559 | CATTATT | C | intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG02293.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0063a0001c0002t0012others(1): Show | a0001c0001t0012g0001 a0001c0001t0063g0006 a0001c0002t0012g0002 others(2): Show |
5 | 192 | 0.0260 | -6 | c.100 others(25): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18553465 | CGTGTGT | C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0148 | 1 | 192 | 0.0052 | -6 | c.100 others(25): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18626661 | CCTCTCT | C | intron_variant | MODIFIER | HG03471.hp1 NA18522.hp1 NA18906.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0190 others(4): Show |
7 | 192 | 0.0365 | -6 | c.249 others(25): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18636336 | TTTATTA | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(10): Show | a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0031 others(43): Show |
46 | 192 | 0.2396 | -6 | c.*76 others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7621 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKN1A_chr6_36673714_36692332 | 36681405 | CTTCCTT | C | intron_variant | MODIFIER | HG00741.hp1 HG02523.hp2 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0022 | a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0370 others(2): Show |
5 | 454 | 0.0110 | -6 | c.-6+ others(21): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1C_chr11_2878218_2890775 | 2884860 | GGGGGCC | G | disruptive_inframe_deletion | MODERATE | HG01069.hp2 HG01071.hp1 HG01943.hp1 others(1): Show |
a0003a0007 | a0003c0006a0007c0019 | a0003c0006t0001a0007c0019t0001 | a0003c0006t0001g0012 a0007c0019t0001g0039 |
4 | 417 | 0.0096 | -6 | c.591 others(13): Show |
p.Ala others(13): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 2/4 | 748/1773 | 591/918 | 197/305 | chr11 | TogoVar | |||
CDKN2AIPNL_chr5_134397065_134416881 | 134407256 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00673.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0001t0001g0080 others(6): Show |
15 | 380 | 0.0395 | -6 | c.339 others(23): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21987432 | CAGAGAG | C | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0111 a0001c0001t0001g0225 others(4): Show |
7 | 404 | 0.0173 | -6 | c.193 others(23): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21990611 | TGAGAGA | T | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0149 a0001c0001t0004g0272 a0001c0001t0004g0273 others(3): Show |
6 | 404 | 0.0149 | -6 | c.193 others(23): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21993799 | CTGTGTG | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0232 others(63): Show |
68 | 404 | 0.1683 | -6 | c.193 others(21): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDNF_chr10_14814245_14843037 | 14824605 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01515.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0004 a0001c0001t0002g0028 a0001c0001t0002g0029 others(28): Show |
38 | 418 | 0.0909 | -6 | c.385 others(21): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 3/3 | chr10 | TogoVar |