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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLINT1_chr5_157780747_157864145 | 157815120 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18981.hp1 NA18998.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 a0001c0001t0005g0100 a0001c0001t0005g0103 others(3): Show |
6 | 340 | 0.0177 | 8 | c.244 others(23): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 3/11 | chr5 | TogoVar | |||||||
CLINT1_chr5_157780747_157864145 | 157830751 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19065.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0062 a0001c0001t0003g0064 |
3 | 340 | 0.0088 | 8 | c.42- others(25): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
CLINT1_chr5_157780747_157864145 | 157830796 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02486.hp1 HG03688.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0044 others(1): Show |
4 | 340 | 0.0118 | 8 | c.42- others(25): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
CLINT1_chr5_157780747_157864145 | 157830796 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02523.hp2 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0276 a0001c0001t0001g0286 a0001c0001t0003g0036 others(1): Show |
4 | 340 | 0.0118 | 8 | c.42- others(25): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
CLINT1_chr5_157780747_157864145 | 157837649 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp2 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0308 a0001c0001t0001g0310 others(15): Show |
19 | 340 | 0.0559 | 8 | c.42- others(25): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
CLINT1_chr5_157780747_157864145 | 157839720 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(23): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0214 others(23): Show |
26 | 340 | 0.0765 | 8 | c.41+ others(25): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122267207 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG03098.hp1 others(6): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0006g0227 others(6): Show |
9 | 234 | 0.0385 | 8 | c.*56 others(19): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 4261 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122275642 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02080.hp2 HG04199.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0166 a0001c0001t0002g0177 a0001c0001t0002g0186 others(6): Show |
9 | 234 | 0.0385 | 8 | c.396 others(27): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 24/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122299612 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02486.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0004t0005others(2): Show | a0001c0001t0005g0033 a0001c0001t0007g0002 a0001c0001t0007g0004 others(8): Show |
11 | 234 | 0.0470 | 8 | c.359 others(29): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 20/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122321018 | T | TTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01169.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0005g0037 others(6): Show |
9 | 234 | 0.0385 | 8 | c.325 others(27): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 17/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122390172 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(5): Show | a0001c0001t0001g0174 a0001c0001t0001g0211 a0001c0001t0001g0215 others(26): Show |
29 | 234 | 0.1239 | 8 | c.-10 others(27): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122407748 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 others(6): Show |
9 | 234 | 0.0385 | 8 | c.-10 others(29): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122427170 | C | CAATAAAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0178 others(42): Show |
45 | 234 | 0.1923 | 8 | c.-47 others(19): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 4502 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122427209 | T | TAAATAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02683.hp2 HG02717.hp2 others(5): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0006a0001c0001t0011a0007c0008t0011 | a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0227 others(5): Show |
8 | 234 | 0.0342 | 8 | c.-47 others(19): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 4541 | chr12 | TogoVar | |||||||
CLIP2_chr7_74284407_74410935 | 74295883 | G | GGATGCTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00621.hp1 others(37): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 others(37): Show |
40 | 278 | 0.1439 | 8 | c.-68 others(25): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74323081 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18984.hp1 NA19012.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002a0002c0003t0004 | a0001c0001t0001g0078 a0002c0003t0002g0183 a0002c0003t0004g0054 |
3 | 278 | 0.0108 | 8 | c.121 others(25): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74335643 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(57): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0270 a0001c0001t0002g0046 a0001c0001t0002g0188 others(57): Show |
60 | 278 | 0.2158 | 8 | c.122 others(25): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74349470 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076 a0001c0001t0002g0259 a0001c0001t0002g0263 others(1): Show |
4 | 278 | 0.0144 | 8 | c.679 others(25): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74361176 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp2 others(86): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0037 others(86): Show |
89 | 278 | 0.3201 | 8 | c.131 others(25): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74375837 | T | TCCAGCCA others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03098.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0143 a0001c0001t0001g0202 |
3 | 278 | 0.0108 | 8 | c.148 others(23): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74390162 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02132.hp1 HG02257.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(2): Show | a0001c0001t0001g0085 a0001c0001t0001g0162 a0001c0001t0001g0193 others(6): Show |
9 | 278 | 0.0324 | 8 | c.272 others(25): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP3_chr19_36009660_36037873 | 36037343 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01169.hp2 others(12): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0151 a0001c0001t0002g0025 a0001c0001t0002g0081 others(12): Show |
15 | 416 | 0.0361 | 8 | c.-46 others(19): Show |
CLIP3 | ENSG00000105270.15 | transcript | ENST00000360535.9 | protein_coding | 4471 | chr19 | TogoVar | |||||||
CLK2_chr1_155257868_155278504 | 155265566 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0032 others(3): Show |
13 | 331 | 0.0393 | 8 | c.933 others(23): Show |
CLK2 | ENSG00000176444.19 | transcript | ENST00000368361.9 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
CLK2_chr1_155257868_155278504 | 155265592 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(18): Show |
102 | 331 | 0.3082 | 8 | c.933 others(23): Show |
CLK2 | ENSG00000176444.19 | transcript | ENST00000368361.9 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
CLK4_chr5_178597664_178632050 | 178627217 | A | AGCGCCCC others(1): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02300.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0035 others(1): Show |
5 | 384 | 0.0130 | 8 | c.-27 others(17): Show |
CLK4 | ENSG00000113240.14 | transcript | ENST00000316308.9 | protein_coding | 168 | chr5 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95245796 | T | TTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0098 others(54): Show |
60 | 276 | 0.2174 | 8 | c.83- others(25): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95245903 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG01975.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(8): Show | a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0004g0214 others(12): Show |
15 | 276 | 0.0544 | 8 | c.83- others(25): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95293330 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp2 HG03486.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0008a0003c0007t0020others(1): Show | a0001c0001t0001g0171 a0003c0007t0008g0049 a0003c0007t0020g0002 others(1): Show |
5 | 276 | 0.0181 | 8 | c.82+ others(25): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95293374 | T | TTCTTTTC others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp2 HG03486.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0008a0003c0007t0020others(1): Show | a0001c0001t0001g0171 a0003c0007t0008g0049 a0003c0007t0020g0002 others(1): Show |
5 | 276 | 0.0181 | 8 | c.82+ others(25): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123097334 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01081.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0001t0012others(11): Show | a0001c0001t0005g0038 a0001c0001t0005g0064 a0001c0001t0005g0068 others(30): Show |
33 | 254 | 0.1299 | 8 | c.186 others(23): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123105353 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG02015.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0009others(5): Show | a0001c0001t0001g0058 a0001c0001t0007g0182 a0002c0002t0009g0009 others(11): Show |
14 | 254 | 0.0551 | 8 | c.29- others(23): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123114424 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00642.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0212 a0001c0001t0002g0224 a0001c0001t0002g0251 others(25): Show |
28 | 254 | 0.1102 | 8 | c.29- others(25): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123149790 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0045 | a0001c0001t0002g0225 a0001c0001t0002g0251 a0001c0001t0045g0223 |
3 | 254 | 0.0118 | 8 | c.28+ others(25): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150416 | T | TAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00735.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 others(17): Show |
20 | 254 | 0.0787 | 8 | c.28+ others(25): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG02683.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0012 a0001c0001t0004g0019 a0001c0001t0007g0160 others(2): Show |
5 | 254 | 0.0197 | 8 | c.28+ others(25): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG02056.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0195 a0001c0001t0003g0123 a0001c0001t0003g0141 others(2): Show |
5 | 254 | 0.0197 | 8 | c.28+ others(25): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123152523 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0214 a0001c0001t0003g0172 a0001c0001t0007g0121 |
3 | 254 | 0.0118 | 8 | c.28+ others(25): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123167956 | A | AAGACAGA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02622.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0239 others(4): Show |
7 | 254 | 0.0276 | 8 | c.28+ others(25): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28478617 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02717.hp2 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0027 a0001c0001t0001g0101 a0001c0001t0001g0129 others(2): Show |
6 | 360 | 0.0167 | 8 | c.105 others(25): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28481458 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01433.hp2 HG02015.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0063 others(2): Show |
6 | 360 | 0.0167 | 8 | c.105 others(25): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28488324 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG03579.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0036 a0002c0004t0003g0260 |
3 | 360 | 0.0083 | 8 | c.294 others(23): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 5/15 | chr16 | TogoVar | |||||||
CLN6_chr15_68201992_68234728 | 68207979 | G | GACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0200 a0001c0001t0011g0201 a0001c0001t0011g0210 |
3 | 324 | 0.0093 | 8 | c.*15 others(17): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 7/7 | 160 | chr15 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1771929 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(290): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(77): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(183): Show |
293 | 413 | 0.7094 | 8 | c.543 others(23): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1771947 | A | ATTTATTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0075 | a0001c0001t0015g0016 a0001c0001t0075g0016 |
3 | 413 | 0.0073 | 8 | c.543 others(23): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1781953 | T | TTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01346.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0035 | a0001c0001t0013g0055 a0001c0001t0013g0147 a0001c0001t0013g0155 others(2): Show |
6 | 413 | 0.0145 | 8 | c.*14 others(19): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 3/3 | 1415 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLNK_chr4_10481395_10689768 | 10535213 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(23): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0003g0232 others(23): Show |
26 | 320 | 0.0813 | 8 | c.603 others(25): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537637 | C | CCCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01099.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0135 a0001c0001t0002g0049 a0001c0001t0002g0122 others(29): Show |
32 | 320 | 0.1000 | 8 | c.602 others(25): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537702 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01192.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0004a0001c0001t0042a0004c0006t0018 | a0001c0001t0004g0078 a0001c0001t0042g0305 a0004c0006t0018g0080 others(1): Show |
4 | 320 | 0.0125 | 8 | c.602 others(25): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10557076 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00738.hp2 others(51): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0173 others(51): Show |
54 | 320 | 0.1688 | 8 | c.445 others(25): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 8/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10616790 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02809.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 others(2): Show |
5 | 320 | 0.0156 | 8 | c.12- others(25): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar |