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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 148296545 | CAAAAA | C | intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0007a0001c0004t0003a0001c0005t0022others(1): Show | a0001c0001t0007g0020a0001c0004t0003g0035a0001c0004t0003g0036others(2): Show | 5 | 40 | 0.1250 | -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 | 148367240 | TAAAAG | T | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0012a0001c0002t0010a0001c0003t0011 | a0001c0001t0012g0034a0001c0002t0010g0002a0001c0003t0011g0023 | 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 | 148385736 | GTTTTT | G | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0013a0001c0019others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0013t0003others(2): Show | a0001c0001t0002g0006a0001c0001t0006g0009a0001c0013t0003g0039others(2): Show | 5 | 40 | 0.1250 | -5 | c.371 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148405420 | ATTTTT | A | intron_variant | MODIFIER | HG03139.hp2 HG03239.hp1 NA21309.hp1 |
a0001a0003 | a0001c0010a0001c0011a0003c0007 | a0001c0010t0002a0001c0011t0016a0003c0007t0017 | a0001c0010t0002g0014a0001c0011t0016g0019a0003c0007t0017g0031 | 3 | 40 | 0.0750 | -5 | c.371 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148405603 | ATTTTT | A | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(6): Show | a0001c0001t0001g0038a0001c0001t0007g0018a0001c0001t0007g0020others(9): Show | 12 | 40 | 0.3000 | -5 | c.371 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148410073 | GAAAGA | G | intron_variant | MODIFIER | HG03139.hp2 HG03239.hp1 HG03239.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0018a0001c0002t0002a0001c0010t0002others(2): Show | a0001c0001t0018g0001a0001c0002t0002g0040a0001c0010t0002g0014others(2): Show | 5 | 40 | 0.1250 | -5 | c.379 others(22): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148413402 | ATATAT | A | intron_variant | MODIFIER | HG00735.hp1 HG02630.hp2 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0004others(6): Show | a0001c0001t0001g0003a0001c0002t0002g0013a0001c0003t0004g0029others(6): Show | 9 | 40 | 0.2250 | -5 | c.379 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 23/23 | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148416531 | ATAGTT | A | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0002g0006others(36): Show | 39 | 40 | 0.9750 | -5 | c.*92 others(14): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 24/24 | 921 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CNTNAP3B_chr9_41885536_42134426 | 41888506 | CTAAAA | C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03490.hp2 |
a0001a0017 | a0001c0001a0017c0014 | a0001c0001t0003a0017c0014t0001 | a0001c0001t0003g0102a0017c0014t0001g0038 | 2 | 108 | 0.0185 | -5 | c.*54 others(16): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2029 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41952235 | AAATTT | A | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG02083.hp1 others(7): Show |
a0004a0011a0028others(2): Show | a0004c0004a0011c0037a0011c0040others(3): Show | a0004c0004t0005a0011c0037t0007a0011c0040t0007others(3): Show | a0004c0004t0005g0029a0004c0004t0005g0030a0004c0004t0005g0031others(7): Show | 10 | 108 | 0.0926 | -5 | c.208 others(22): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 13/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41988238 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp2 others(24): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0012a0001c0042others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(9): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(24): Show | 27 | 108 | 0.2500 | -5 | c.133 others(24): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 8/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 42134351 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(22): Show |
a0002a0007a0008others(5): Show | a0002c0002a0002c0010a0002c0020others(8): Show | a0002c0002t0001a0002c0002t0022a0002c0002t0024others(10): Show | a0002c0002t0001g0040a0002c0002t0001g0041a0002c0002t0001g0045others(22): Show | 25 | 108 | 0.2315 | -5 | c.-52 others(16): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 4926 | chr9 | TogoVar | ||||||
CNTNAP3_chr9_39059710_39293167 | 39085043 | TTAAAG | T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004 | a0001c0001t0003g0002a0002c0003t0004g0001 | 2 | 4 | 0.5000 | -5 | c.344 others(22): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 21/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76365751 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp2 others(56): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0015others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0024others(56): Show | 59 | 274 | 0.2153 | -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 | 76400004 | CTATTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 NA18906.hp2 |
a0002a0003a0017 | a0002c0002a0003c0003a0017c0036 | a0002c0002t0002a0003c0003t0005a0017c0036t0004 | a0002c0002t0002g0201a0003c0003t0005g0047a0017c0036t0004g0248 | 3 | 274 | 0.0110 | -5 | c.391 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76402464 | CTATCT | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02630.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0010a0002c0002t0024a0003c0003t0005others(5): Show | a0001c0001t0010g0250a0002c0002t0024g0049a0003c0003t0005g0266others(6): Show | 9 | 274 | 0.0329 | -5 | c.391 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76418350 | TCTTTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00621.hp1 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0015others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0024others(67): Show | 70 | 274 | 0.2555 | -5 | c.391 others(22): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76500803 | GAATGA | G | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG02895.hp1 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0012others(3): Show | a0001c0001t0015a0002c0002t0002a0002c0002t0028others(4): Show | a0001c0001t0015g0099a0001c0001t0015g0272a0002c0002t0002g0128others(6): Show | 9 | 274 | 0.0329 | -5 | c.236 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76502513 | ATAATT | A | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 NA20752.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0010a0006c0009t0001 | a0001c0001t0001g0140a0001c0001t0010g0240a0006c0009t0001g0258 | 3 | 274 | 0.0110 | -5 | c.236 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76522647 | TTTCTC | T | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01106.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0003a0001c0001t0006a0001c0004t0003others(1): Show | a0001c0001t0003g0022a0001c0001t0003g0065a0001c0001t0003g0066others(4): Show | 7 | 274 | 0.0256 | -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 | 76522687 | CTTTCT | C | intron_variant | MODIFIER | HG01358.hp2 HG02647.hp1 HG02698.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0016a0001c0001t0020others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0097a0001c0001t0001g0120others(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 | |||||
CNTNAP5_chr2_124020287_124926219 | 124082348 | CAAAAA | C | intron_variant | MODIFIER | HG02723.hp2 HG02897.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0043a0001c0001t0002g0048a0001c0001t0007g0039others(1): Show | 4 | 64 | 0.0625 | -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 | 124109734 | TGATAG | T | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0043a0001c0001t0002g0042others(11): Show | 14 | 64 | 0.2188 | -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 | 124219145 | GGTTGA | G | intron_variant | MODIFIER | HG02970.hp1 NA19043.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0001 | a0001c0002t0002g0060a0002c0004t0001g0001 | 2 | 64 | 0.0313 | -5 | c.83- others(20): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124255524 | AAAAAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG02145.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0033a0001c0001t0002g0042others(6): Show | 9 | 64 | 0.1406 | -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 | 124271689 | CTATCT | C | intron_variant | MODIFIER | HG02451.hp1 HG03139.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005 | a0001c0002t0001g0046a0001c0002t0004g0044a0001c0002t0004g0047others(1): Show | 4 | 64 | 0.0625 | -5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124297811 | TTATTA | T | intron_variant | MODIFIER | HG02257.hp2 HG02293.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0005g0040others(2): Show | 5 | 64 | 0.0781 | -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 | 124614983 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0043others(22): Show | 25 | 64 | 0.3906 | -5 | c.187 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124641126 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0043others(19): Show | 22 | 64 | 0.3438 | -5 | c.187 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124713303 | TCTTTC | T | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01261.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0002g0049others(2): Show | 5 | 64 | 0.0781 | -5 | c.207 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124747785 | CTTCTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0002a0001c0001t0002g0022a0001c0001t0002g0023others(8): Show | 11 | 64 | 0.1719 | -5 | c.223 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124883070 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01261.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0019a0001c0001t0002g0022a0001c0001t0002g0023others(22): Show | 25 | 64 | 0.3906 | -5 | c.343 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121104557 | AAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(55): Show |
a0001a0021a0022others(1): Show | a0001c0001a0021c0030a0022c0028others(1): Show | a0001c0001t0001a0001c0001t0003a0021c0030t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0194others(53): Show | 58 | 330 | 0.1758 | -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 | 121172644 | AAAAAC | A | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0231others(3): Show | 6 | 330 | 0.0182 | -5 | c.641 others(22): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 40/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121178485 | GTCTTT | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00738.hp2 others(11): Show |
a0003a0018a0019 | a0003c0004a0003c0019a0018c0017others(1): Show | a0003c0004t0002a0003c0019t0002a0018c0017t0002others(1): Show | a0003c0004t0002g0009a0003c0004t0002g0124a0003c0004t0002g0125others(10): Show | 14 | 330 | 0.0424 | -5 | c.*13 others(16): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 876 | chr9 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43656820 | AAAAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0232a0001c0001t0001g0360others(1): Show | 4 | 384 | 0.0104 | -5 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691260 | GAAAGA | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0370a0001c0001t0001g0371others(1): 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 | 43691402 | AGGAAG | A | intron_variant | MODIFIER | HG02056.hp1 HG02148.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206a0001c0001t0001g0219a0001c0001t0001g0220 | 3 | 384 | 0.0078 | -5 | c.-39 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43715006 | TAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00738.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(13): Show | 16 | 384 | 0.0417 | -5 | c.-39 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43728353 | GTGTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(241): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(239): Show | 244 | 384 | 0.6354 | -5 | c.-39 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801511 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0006g0009 | 8 | 310 | 0.0258 | -5 | c.-28 others(16): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2808 | chr17 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234377059 | CGAGAG | C | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 406 | 0.0074 | -5 | c.372 others(22): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234380645 | TACCAA | T | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0036a0001c0001t0001g0037others(14): Show | 22 | 406 | 0.0542 | -5 | c.373 others(22): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COA7_chr1_52679449_52703347 | 52684909 | ATTCAT | A | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020a0001c0001t0042 | a0001c0001t0007g0050a0001c0001t0007g0051a0001c0001t0007g0053others(7): Show | 10 | 416 | 0.0240 | -5 | c.*28 others(16): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 3/3 | 2806 | chr1 | TogoVar | |||||
COA8_chr14_103557960_103595896 | 103586200 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02717.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0197a0003c0004t0002g0011a0003c0004t0002g0099others(4): Show | 8 | 382 | 0.0209 | -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 | 164686588 | TGAAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01175.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0033 | a0001c0001t0005a0001c0001t0056a0001c0002t0005others(3): Show | a0001c0001t0005g0193a0001c0001t0005g0194a0001c0001t0056g0032others(10): Show | 13 | 212 | 0.0613 | -5 | c.330 others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 13/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164733319 | CATTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01346.hp1 others(11): Show |
a0001a0013 | a0001c0001a0001c0010a0013c0021 | a0001c0001t0001a0001c0001t0007a0001c0001t0035others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0036others(11): Show | 14 | 212 | 0.0660 | -5 | c.231 others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164745894 | CATTTT | C | intron_variant | MODIFIER | HG03130.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0195a0001c0001t0011g0196 | 2 | 212 | 0.0094 | -5 | c.42- others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164772237 | GCTGTT | G | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(47): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0029others(20): Show | a0001c0001t0001g0103a0001c0001t0027g0188a0001c0001t0029g0179others(46): Show | 50 | 212 | 0.2359 | -5 | c.42- others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164801438 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(36): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0080a0001c0001t0001g0083a0001c0001t0001g0084others(35): Show | 39 | 212 | 0.1840 | -5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar |