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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 148109351 | G | GTGTTT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02451.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0006g0009 others(13): Show |
16 | 40 | 0.4000 | 5 | c.238 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148228827 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG02451.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0007a0001c0001t0012a0001c0002t0001others(10): Show | a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0002t0001g0007 others(11): Show |
14 | 40 | 0.3500 | 5 | c.324 others(22): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148228829 | A | AAAAAC | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0002others(4): Show | a0001c0001t0001g0003 a0001c0001t0018g0001 a0001c0002t0002g0013 others(5): Show |
8 | 40 | 0.2000 | 5 | c.324 others(22): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148295388 | C | CAAAAG | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0007a0001c0003t0004a0001c0004t0003 | a0001c0001t0007g0018 a0001c0003t0004g0029 a0001c0004t0003g0035 others(1): Show |
4 | 40 | 0.1000 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148336551 | A | AAAAAG | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02630.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0012g0034 others(20): Show |
23 | 40 | 0.5750 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148354648 | C | CTCCCT | intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0010 | a0001c0001t0012g0034 a0001c0002t0010g0002 |
2 | 40 | 0.0500 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148355166 | C | CTTTTT | intron_variant | MODIFIER | HG02886.hp2 NA20129.hp1 NA20129.hp2 |
a0001 | a0001c0003a0001c0005a0001c0006 | a0001c0003t0023a0001c0005t0022a0001c0006t0009 | a0001c0003t0023g0030 a0001c0005t0022g0032 a0001c0006t0009g0028 |
3 | 40 | 0.0750 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148356150 | T | TAATTA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp2 others(35): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(35): Show |
38 | 40 | 0.9500 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403079 | A | ATCTGC | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02451.hp1 others(19): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(19): Show |
22 | 40 | 0.5500 | 5 | c.371 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148416888 | C | CTTAGT | 3_prime_UTR_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0013a0001c0005t0008 | a0001c0003t0013g0010 a0001c0005t0008g0005 |
2 | 40 | 0.0500 | 5 | c.*12 others(16): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 24/24 | 1281 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP3B_chr9_41885536_42134426 | 41888506 | C | CTAAAA | downstream_gene_variant | MODIFIER | HG02040.hp1 HG03239.hp1 NA18968.hp1 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0012t0002 | a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0003g0099 others(2): Show |
5 | 108 | 0.0463 | 5 | c.*54 others(16): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2029 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41907618 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(29): Show |
a0001a0003a0005others(12): Show | a0001c0001a0001c0012a0003c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(18): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 others(29): Show |
32 | 108 | 0.2963 | 5 | c.322 others(22): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 19/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41948368 | A | AGGCAT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show |
a0001a0006a0010others(3): Show | a0001c0001a0001c0012a0001c0043others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(31): Show |
34 | 108 | 0.3148 | 5 | c.208 others(24): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 13/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41956702 | G | GGTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0031 a0004c0004t0005g0032 |
2 | 108 | 0.0185 | 5 | c.187 others(24): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 12/23 | chr9 | TogoVar | |||||||
CNTNAP3_chr9_39059710_39293167 | 39085706 | A | AGATTT | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0004a0003c0001t0003 | a0002c0003t0004g0001 a0003c0001t0003g0002 |
2 | 4 | 0.5000 | 5 | c.344 others(20): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 21/23 | chr9 | TogoVar | |||||||
CNTNAP3_chr9_39059710_39293167 | 39092785 | T | TTATTC | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0004a0003c0001t0003 | a0002c0003t0004g0001 a0003c0001t0003g0002 |
2 | 4 | 0.5000 | 5 | c.299 others(24): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 18/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76365751 | C | CAAAAA | intron_variant | MODIFIER | HG01358.hp2 HG02109.hp2 HG02145.hp1 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(5): Show | a0001c0001t0001g0037 a0001c0001t0004g0051 a0001c0001t0020g0181 others(5): Show |
8 | 274 | 0.0292 | 5 | c.390 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76402871 | T | TGTTGA | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0006 | a0001c0001t0004a0003c0003t0001a0003c0003t0006others(3): Show | a0001c0001t0004g0172 a0003c0003t0001g0098 a0003c0003t0001g0271 others(7): Show |
10 | 274 | 0.0365 | 5 | c.391 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | chr16 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76456111 | A | ATTGAC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp2 others(76): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0018a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0026 others(76): Show |
79 | 274 | 0.2883 | 5 | c.133 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | chr16 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76484275 | G | GAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp2 others(75): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0026 others(75): Show |
78 | 274 | 0.2847 | 5 | c.188 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522687 | C | CTTTCT | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0003c0006others(2): Show | a0001c0001t0001a0001c0004t0001a0003c0006t0001others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0159 others(6): Show |
9 | 274 | 0.0329 | 5 | c.275 others(22): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76525754 | C | CTTATA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(268): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0004a0001c0015others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0020 others(268): Show |
271 | 274 | 0.9891 | 5 | c.275 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124044889 | A | ACACAC | intron_variant | MODIFIER | HG02145.hp2 HG02698.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0002c0008t0001 | a0001c0001t0002g0027 a0002c0008t0001g0038 |
2 | 64 | 0.0313 | 5 | c.82+ others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | chr2 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124057448 | A | ATTTTT | intron_variant | MODIFIER | HG02293.hp2 HG02451.hp2 HG02698.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0002g0027 a0001c0001t0004g0052 a0001c0001t0009g0061 others(5): Show |
8 | 64 | 0.1250 | 5 | c.82+ others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124145836 | A | AAAAAG | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01261.hp1 others(31): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 others(31): Show |
34 | 64 | 0.5313 | 5 | c.83- others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124228665 | C | CATACT | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0007 | a0001c0001t0004g0052 a0001c0002t0007g0009 |
2 | 64 | 0.0313 | 5 | c.187 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124255524 | A | AAAAAT | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02723.hp1 others(3): Show |
a0001a0002a0004 | a0001c0002a0002c0008a0004c0007 | a0001c0002t0001a0001c0002t0003a0001c0002t0016others(2): Show | a0001c0002t0001g0005 a0001c0002t0001g0054 a0001c0002t0003g0056 others(3): Show |
6 | 64 | 0.0938 | 5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124255581 | A | AAATAG | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0007 | a0001c0001t0004g0052 a0001c0002t0007g0009 |
2 | 64 | 0.0313 | 5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124322161 | T | TAATAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0002g0019 a0001c0001t0002g0049 |
3 | 64 | 0.0469 | 5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124349874 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01891.hp2 HG02145.hp1 others(5): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0003g0006 others(5): Show |
8 | 64 | 0.1250 | 5 | c.382 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124419988 | C | CTTTCT | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0002t0001g0046 others(4): Show |
7 | 64 | 0.1094 | 5 | c.529 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124485612 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp1 HG03098.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 others(4): Show |
7 | 64 | 0.1094 | 5 | c.106 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124541179 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG02145.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0033 a0001c0001t0002g0019 a0001c0001t0002g0024 others(14): Show |
17 | 64 | 0.2656 | 5 | c.164 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124570556 | T | TTGTTG | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0062 |
3 | 64 | 0.0469 | 5 | c.175 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124571527 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp2 HG02293.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0043 others(8): Show |
11 | 64 | 0.1719 | 5 | c.175 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124593127 | A | ATTTAT | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01261.hp1 others(17): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0026 others(17): Show |
20 | 64 | 0.3125 | 5 | c.175 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124686990 | G | GTACAC | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0007 a0001c0002t0001g0046 a0001c0002t0004g0044 others(1): Show |
4 | 64 | 0.0625 | 5 | c.207 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | |||||||
CNTRL_chr9_121069955_121182610 | 121104694 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01952.hp1 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 a0003c0003t0001g0116 a0003c0003t0001g0253 others(21): Show |
26 | 330 | 0.0788 | 5 | c.809 others(22): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTRL_chr9_121069955_121182610 | 121151384 | C | CTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG02486.hp1 HG02559.hp2 others(13): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0004a0005c0008others(1): Show | a0002c0002t0001a0002c0002t0004a0003c0004t0002others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0038 a0002c0002t0001g0043 others(12): Show |
16 | 330 | 0.0485 | 5 | c.396 others(22): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTROB_chr17_7927206_7954920 | 7938001 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(10): Show |
a0001a0003a0012others(1): Show | a0001c0001a0003c0004a0012c0009others(1): Show | a0001c0001t0001a0001c0001t0006a0003c0004t0002others(2): Show | a0001c0001t0001g0162 a0001c0001t0006g0026 a0001c0001t0006g0046 others(8): Show |
13 | 402 | 0.0323 | 5 | c.927 others(20): Show |
CNTROB | ENSG00000170037.14 | transcript | ENST00000563694.6 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43656820 | A | AAAAAG | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 others(4): Show |
7 | 384 | 0.0182 | 5 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43710375 | A | ATATAT | intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0172 a0001c0001t0001g0173 others(2): Show |
5 | 384 | 0.0130 | 5 | c.-39 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43733997 | C | CATAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(266): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(262): Show |
269 | 384 | 0.7005 | 5 | c.-46 others(16): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4475 | chr7 | TogoVar | |||||||
COA7_chr1_52679449_52703347 | 52682622 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012 | a0001c0001t0009g0010 a0001c0001t0009g0076 a0001c0001t0009g0077 others(2): Show |
6 | 416 | 0.0144 | 5 | c.*50 others(16): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 1826 | chr1 | TogoVar | |||||||
COA7_chr1_52679449_52703347 | 52682874 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00741.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002a0002c0002t0025others(1): Show | a0001c0001t0005g0015 a0001c0001t0005g0224 a0002c0002t0002g0004 others(11): Show |
20 | 416 | 0.0481 | 5 | c.*48 others(16): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 1574 | chr1 | TogoVar | |||||||
COA8_chr14_103557960_103595896 | 103582737 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01074.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0195 a0001c0003t0001g0031 a0001c0003t0001g0036 others(9): Show |
12 | 382 | 0.0314 | 5 | c.386 others(22): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164696196 | A | AAAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp1 others(103): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0010others(17): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(50): Show | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0074 others(101): Show |
106 | 212 | 0.5000 | 5 | c.155 others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 11/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164702575 | A | AAAAAT | intron_variant | MODIFIER | HG01261.hp1 HG02615.hp1 HG02922.hp2 others(2): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0027 | a0001c0001t0014a0001c0002t0010a0001c0002t0046others(1): Show | a0001c0001t0014g0019 a0001c0002t0010g0017 a0001c0002t0010g0018 others(2): Show |
5 | 212 | 0.0236 | 5 | c.122 others(24): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164702575 | A | AATAAT | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02559.hp2 others(2): Show |
a0001a0004 | a0001c0010a0004c0005 | a0001c0010t0048a0004c0005t0009 | a0001c0010t0048g0185 a0004c0005t0009g0197 a0004c0005t0009g0198 others(2): Show |
5 | 212 | 0.0236 | 5 | c.122 others(24): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164791347 | T | TAAACA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp1 others(45): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(27): Show | a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0061 others(45): Show |
48 | 212 | 0.2264 | 5 | c.42- others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar |