view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD2_chr1_33508998_34170230 | 33889655 | CATATAT | C | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(30): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0026a0001c0042others(29): Show | a0001c0001t0003a0001c0026t0003a0001c0042t0005others(29): Show | a0001c0001t0003g0063a0001c0026t0003g0035a0001c0042t0005g0051others(30): Show | 33 | 66 | 0.5000 | -6 | c.920 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33943925 | TACACAC | T | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02080.hp2 others(5): Show |
a0005a0006a0008others(5): Show | a0005c0020a0006c0013a0008c0022others(5): Show | a0005c0020t0006a0006c0013t0003a0008c0022t0001others(5): Show | a0005c0020t0006g0046a0006c0013t0003g0058a0008c0022t0001g0060others(5): Show | 8 | 66 | 0.1212 | -6 | c.518 others(23): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33950383 | CAGAGAG | C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02717.hp2 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0045a0002c0002others(9): Show | a0001c0001t0003a0001c0045t0013a0002c0002t0010others(9): Show | a0001c0001t0003g0063a0001c0045t0013g0027a0002c0002t0010g0016others(9): Show | 12 | 66 | 0.1818 | -6 | c.518 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33957929 | CTGTGTG | C | intron_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01192.hp2 others(16): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0044a0001c0045others(15): Show | a0001c0001t0003a0001c0044t0002a0001c0045t0013others(16): Show | a0001c0001t0003g0063a0001c0044t0002g0026a0001c0045t0013g0027others(16): Show | 19 | 66 | 0.2879 | -6 | c.518 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34045038 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02809.hp1 others(8): Show |
a0001a0003a0004others(7): Show | a0001c0026a0001c0045a0003c0035others(8): Show | a0001c0026t0003a0001c0045t0013a0003c0035t0006others(8): Show | a0001c0026t0003g0035a0001c0045t0013g0027a0003c0035t0006g0006others(8): Show | 11 | 66 | 0.1667 | -6 | c.405 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34052495 | CTGTGTG | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp2 others(4): Show |
a0001a0002a0003others(4): Show | a0001c0047a0002c0006a0003c0035others(4): Show | a0001c0047t0001a0002c0006t0001a0003c0035t0006others(4): Show | a0001c0047t0001g0031a0002c0006t0001g0008a0003c0035t0006g0006others(4): Show | 7 | 66 | 0.1061 | -6 | c.405 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34111982 | TTCTCTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG03225.hp1 others(3): Show |
a0002a0004a0008others(2): Show | a0002c0043a0004c0032a0008c0021others(3): Show | a0002c0043t0003a0004c0032t0001a0008c0021t0004others(3): Show | a0002c0043t0003g0061a0004c0032t0001g0022a0008c0021t0004g0023others(3): Show | 6 | 66 | 0.0909 | -6 | c.188 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34114294 | TTTGTTG | T | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp1 HG01069.hp2 others(16): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0040a0001c0042others(14): Show | a0001c0001t0005a0001c0040t0001a0001c0042t0005others(15): Show | a0001c0001t0005g0055a0001c0040t0001g0010a0001c0042t0005g0051others(16): Show | 19 | 66 | 0.2879 | -6 | c.188 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34165599 | AACACAC | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG02723.hp1 HG02886.hp2 others(3): Show |
a0001a0007a0012others(3): Show | a0001c0044a0007c0025a0012c0028others(3): Show | a0001c0044t0002a0007c0025t0001a0012c0028t0007others(3): Show | a0001c0044t0002g0026a0007c0025t0001g0042a0012c0028t0007g0041others(3): Show | 6 | 66 | 0.0909 | -6 | c.-50 others(15): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 370 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34169630 | AGAGAGT | A | upstream_gene_variant | MODIFIER | HG02886.hp1 NA18906.hp2 |
a0005a0018 | a0005c0015a0018c0029 | a0005c0015t0001a0018c0029t0007 | a0005c0015t0001g0021a0018c0029t0007g0025 | 2 | 66 | 0.0303 | -6 | c.-45 others(17): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 4401 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112249358 | AACAGTG | A | intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01255.hp2 others(18): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0007a0001c0016others(12): Show | a0001c0001t0001a0001c0001t0007a0001c0007t0001others(13): Show | a0001c0001t0001g0016a0001c0001t0007g0041a0001c0007t0001g0012others(18): Show | 21 | 80 | 0.2625 | -6 | c.101 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 63/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112252679 | GTATATA | G | intron_variant | MODIFIER | HG00423.hp1 HG01169.hp2 HG01175.hp1 others(7): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0007a0001c0016others(5): Show | a0001c0001t0001a0001c0007t0001a0001c0016t0001others(5): Show | a0001c0001t0001g0016a0001c0007t0001g0043a0001c0016t0001g0073others(7): Show | 10 | 80 | 0.1250 | -6 | c.101 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 63/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112270343 | AGTGTGT | A | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02559.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0001c0019others(4): Show | a0001c0001t0004a0001c0017t0003a0001c0019t0005others(4): Show | a0001c0001t0004g0058a0001c0001t0004g0067a0001c0017t0003g0017others(5): Show | 8 | 80 | 0.1000 | -6 | c.950 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112279013 | AAACAAC | A | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01074.hp2 others(7): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0024a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0024t0002others(5): Show | a0001c0001t0002g0022a0001c0001t0002g0025a0001c0001t0002g0068others(7): Show | 10 | 80 | 0.1250 | -6 | c.950 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112284191 | CTCAGTT | C | intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01255.hp2 others(6): Show |
a0001a0002a0012others(1): Show | a0001c0007a0001c0016a0002c0005others(3): Show | a0001c0007t0001a0001c0016t0001a0002c0005t0001others(3): Show | a0001c0007t0001g0012a0001c0016t0001g0073a0002c0005t0001g0027others(6): Show | 9 | 80 | 0.1125 | -6 | c.933 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 58/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112284557 | TATCGTA | T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0005others(4): Show | a0001c0023a0002c0003a0002c0032others(6): Show | a0001c0023t0001a0002c0003t0002a0002c0032t0001others(6): Show | a0001c0023t0001g0056a0002c0003t0002g0051a0002c0032t0001g0079others(7): Show | 10 | 80 | 0.1250 | -6 | c.933 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 58/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112346692 | TTTTTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00741.hp2 others(19): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0007a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0016a0001c0001t0002g0014a0001c0001t0002g0022others(19): Show | 22 | 80 | 0.2750 | -6 | c.632 others(23): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 40/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112361572 | CATATAT | C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0006a0001c0017a0002c0028others(1): Show | a0001c0006t0004a0001c0017t0003a0002c0028t0005others(1): Show | a0001c0006t0004g0060a0001c0017t0003g0017a0002c0028t0005g0078others(1): Show | 4 | 80 | 0.0500 | -6 | c.613 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112370023 | GGAAGAA | G | intron_variant | MODIFIER | HG02922.hp2 HG04115.hp2 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0007a0001c0021t0004 | a0001c0001t0007g0045a0001c0021t0004g0037 | 2 | 80 | 0.0250 | -6 | c.613 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112387465 | ATGTGTG | A | intron_variant | MODIFIER | HG02970.hp2 NA19030.hp2 |
a0001a0010 | a0001c0001a0010c0025 | a0001c0001t0003a0010c0025t0003 | a0001c0001t0003g0010a0010c0025t0003g0052 | 2 | 80 | 0.0250 | -6 | c.593 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 36/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112405214 | CATATAT | C | intron_variant | MODIFIER | HG00438.hp1 HG01074.hp2 HG01081.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0024a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0024t0002others(5): Show | a0001c0001t0002g0025a0001c0001t0004g0002a0001c0024t0002g0024others(5): Show | 8 | 80 | 0.1000 | -6 | c.580 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 35/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112612709 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00673.hp2 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0015others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0016a0001c0001t0001g0046a0001c0001t0003g0010others(35): Show | 38 | 80 | 0.4750 | -6 | c.371 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112630942 | TCACACA | T | intron_variant | MODIFIER | HG00423.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0010a0003c0002others(2): Show | a0001c0001t0002a0002c0010t0002a0003c0002t0001others(2): Show | a0001c0001t0002g0025a0002c0010t0002g0070a0003c0002t0001g0050others(3): Show | 6 | 80 | 0.0750 | -6 | c.371 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112747183 | CTTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp2 HG01255.hp2 others(1): Show |
a0001a0014 | a0001c0001a0014c0030 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0022a0001c0001t0003g0023a0001c0001t0004g0002others(1): Show | 4 | 80 | 0.0500 | -6 | c.197 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112747962 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01169.hp2 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0017others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0016a0001c0001t0002g0025a0001c0001t0004g0015others(24): Show | 27 | 80 | 0.3375 | -6 | c.197 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112752900 | CGTGTGT | C | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 |
a0002a0005 | a0002c0003a0005c0012 | a0002c0003t0006a0005c0012t0001 | a0002c0003t0006g0009a0005c0012t0001g0038 | 2 | 80 | 0.0250 | -6 | c.197 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112755331 | AAATAAT | A | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02895.hp2 others(1): Show |
a0001a0002a0009 | a0001c0019a0002c0003a0002c0028others(1): Show | a0001c0019t0005a0002c0003t0002a0002c0028t0005others(1): Show | a0001c0019t0005g0065a0002c0003t0002g0051a0002c0028t0005g0078others(1): Show | 4 | 80 | 0.0500 | -6 | c.197 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112827164 | AATATAT | A | intron_variant | MODIFIER | HG01074.hp1 HG02257.hp1 |
a0001a0002 | a0001c0001a0002c0027 | a0001c0001t0003a0002c0027t0003 | a0001c0001t0003g0023a0002c0027t0003g0047 | 2 | 80 | 0.0250 | -6 | c.185 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112829885 | GCACACA | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00673.hp1 others(7): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0016others(2): Show | a0001c0001t0004a0001c0006t0003a0001c0016t0001others(2): Show | a0001c0001t0004g0015a0001c0001t0004g0018a0001c0001t0004g0058others(7): Show | 10 | 80 | 0.1250 | -6 | c.175 others(22): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 11/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112865684 | CCCCACA | C | intron_variant | MODIFIER | HG01169.hp1 HG02258.hp1 HG02258.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0019others(4): Show | a0001c0001t0003a0001c0006t0004a0001c0019t0005others(4): Show | a0001c0001t0003g0044a0001c0006t0004g0060a0001c0019t0005g0065others(4): Show | 7 | 80 | 0.0875 | -6 | c.163 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112897694 | CTGTGTG | C | intron_variant | MODIFIER | HG00741.hp2 HG01261.hp1 HG03471.hp2 others(3): Show |
a0001a0003a0016 | a0001c0001a0001c0015a0003c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0015t0001others(3): Show | a0001c0001t0002g0014a0001c0001t0004g0067a0001c0015t0001g0026others(3): Show | 6 | 80 | 0.0750 | -6 | c.163 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112899599 | TTATATA | T | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01074.hp2 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0021others(13): Show | a0001c0001t0007a0001c0007t0001a0001c0021t0004others(15): Show | a0001c0001t0007g0045a0001c0007t0001g0012a0001c0021t0004g0037others(21): Show | 24 | 80 | 0.3000 | -6 | c.163 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112911641 | ATGTGTG | A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00741.hp2 others(36): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0016a0001c0001t0002g0014a0001c0001t0004g0015others(36): Show | 39 | 80 | 0.4875 | -6 | c.163 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112920997 | GCACACA | G | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 HG03225.hp1 others(1): Show |
a0001a0005a0008 | a0001c0006a0005c0012a0005c0013others(1): Show | a0001c0006t0004a0005c0012t0001a0005c0013t0001others(1): Show | a0001c0006t0004g0060a0005c0012t0001g0038a0005c0013t0001g0039others(1): Show | 4 | 80 | 0.0500 | -6 | c.163 others(23): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113023396 | GTCTCTC | G | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG02280.hp1 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0007a0006c0008t0005 | a0001c0001t0007g0041a0006c0008t0005g0004a0006c0008t0005g0005 | 3 | 80 | 0.0375 | -6 | c.918 others(23): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113024314 | GTGTGTT | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00741.hp1 others(9): Show |
a0001a0003a0012 | a0001c0001a0001c0015a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0046a0001c0001t0002g0022a0001c0001t0002g0025others(9): Show | 12 | 80 | 0.1500 | -6 | c.918 others(23): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113112386 | CATATAT | C | intron_variant | MODIFIER | HG00423.hp2 HG01169.hp1 HG03225.hp1 others(4): Show |
a0001a0003a0008 | a0001c0001a0001c0006a0003c0002others(2): Show | a0001c0001t0004a0001c0006t0003a0001c0006t0004others(3): Show | a0001c0001t0004g0002a0001c0006t0003g0055a0001c0006t0004g0060others(4): Show | 7 | 80 | 0.0875 | -6 | c.710 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113182553 | CAACAAA | C | intron_variant | MODIFIER | HG02970.hp1 HG02976.hp2 |
a0002 | a0002c0003a0002c0028 | a0002c0003t0006a0002c0028t0005 | a0002c0003t0006g0009a0002c0028t0005g0078 | 2 | 80 | 0.0250 | -6 | c.515 others(23): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113182872 | CTGTTGT | C | intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0004a0003c0002t0001 | a0001c0001t0004g0042a0003c0002t0001g0008 | 2 | 80 | 0.0250 | -6 | c.515 others(23): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113195810 | TATATAC | T | intron_variant | MODIFIER | NA19043.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0006 | a0001c0001t0004g0018a0002c0003t0006g0061 | 2 | 80 | 0.0250 | -6 | c.515 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113289554 | CAGAGAG | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp2 others(26): Show |
a0001a0002a0003others(8): Show | a0001c0006a0002c0003a0002c0005others(16): Show | a0001c0006t0004a0002c0003t0002a0002c0003t0003others(21): Show | a0001c0006t0004g0060a0002c0003t0002g0006a0002c0003t0003g0062others(26): Show | 29 | 80 | 0.3625 | -6 | c.402 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 2/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113355713 | GTTTTAT | G | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01081.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0021others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0001g0046a0001c0001t0004g0007a0001c0001t0004g0058others(14): Show | 17 | 80 | 0.2125 | -6 | c.179 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 1/70 | chr8 | TogoVar | |||||||
CSN1S1_chr4_69926068_69951574 | 69940111 | TCACACA | T | intron_variant | MODIFIER | HG01884.hp2 HG01943.hp1 HG02004.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0001c0001t0001g0090a0002c0002t0002g0018a0002c0002t0002g0030others(3): Show | 12 | 448 | 0.0268 | -6 | c.300 others(21): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CSN1S1_chr4_69926068_69951574 | 69943163 | ATATTAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01943.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0039a0001c0001t0001g0087a0001c0001t0001g0097others(14): Show | 30 | 448 | 0.0670 | -6 | c.402 others(21): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CSN2_chr4_69950256_69970728 | 69965408 | CTATATA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0003others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0021a0001c0001t0001g0060others(11): Show | 58 | 448 | 0.1295 | -6 | c.-13 others(21): Show |
CSN2 | ENSG00000135222.7 | transcript | ENST00000353151.4 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149490297 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(64): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(64): Show | 67 | 390 | 0.1718 | -6 | c.*65 others(17): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2684 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149544737 | TTATATA | T | intron_variant | MODIFIER | HG01516.hp2 HG03225.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0019a0001c0001t0003g0130a0001c0001t0004g0131others(1): Show | 4 | 390 | 0.0103 | -6 | c.230 others(23): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149552218 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0025 | a0001c0001t0008g0112a0001c0001t0008g0117a0001c0001t0008g0123others(3): Show | 6 | 390 | 0.0154 | -6 | c.-12 others(17): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 780 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149554819 | AGCAGCT | A | upstream_gene_variant | MODIFIER | NA18946.hp2 NA19005.hp2 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 4 | 390 | 0.0103 | -6 | c.-38 others(17): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 3381 | chr5 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64182053 | GTTTTTT | G | intron_variant | MODIFIER | HG02071.hp2 HG02129.hp1 HG03195.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0029a0001c0001t0036 | a0001c0001t0004g0125a0001c0001t0004g0126a0001c0001t0004g0128others(6): Show | 9 | 176 | 0.0511 | -6 | c.110 others(25): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 10/11 | chr15 | TogoVar |