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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLIP1_chr12_122266469_122427669 | 122389758 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02559.hp1 others(17): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0014 others(17): Show |
20 | 234 | 0.0855 | 5 | c.-10 others(24): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122397553 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0195 others(20): Show |
23 | 234 | 0.0983 | 5 | c.-10 others(26): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122426394 | G | GTTGTT | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18955.hp1 NA19086.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 a0002c0002t0001g0093 a0002c0002t0001g0137 |
3 | 234 | 0.0128 | 5 | c.-39 others(16): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 3726 | chr12 | TogoVar | |||||||
CLIP2_chr7_74284407_74410935 | 74287154 | G | GTCCCA | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0007t0010 | a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0017 others(2): Show |
5 | 278 | 0.0180 | 5 | c.-26 others(16): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 2252 | chr7 | TogoVar | |||||||
CLIP2_chr7_74284407_74410935 | 74310036 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG02004.hp1 others(9): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0171 others(9): Show |
12 | 278 | 0.0432 | 5 | c.-67 others(22): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74332460 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(99): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0104 a0001c0001t0001g0268 a0001c0001t0001g0270 others(99): Show |
102 | 278 | 0.3669 | 5 | c.122 others(22): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74336069 | A | ATTATT | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 |
a0001 | a0001c0026a0001c0027 | a0001c0026t0007a0001c0027t0006 | a0001c0026t0007g0142 a0001c0027t0006g0267 |
2 | 278 | 0.0072 | 5 | c.122 others(22): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP4_chr2_29110415_29188808 | 29133603 | T | TTGGAA | intron_variant | MODIFIER | HG02155.hp1 HG02970.hp2 HG03453.hp2 others(9): Show |
a0001a0010 | a0001c0002a0010c0025 | a0001c0002t0001a0001c0002t0007a0010c0025t0001 | a0001c0002t0001g0003 a0001c0002t0001g0062 a0001c0002t0001g0063 others(8): Show |
12 | 292 | 0.0411 | 5 | c.368 others(18): Show |
CLIP4 | ENSG00000115295.21 | transcript | ENST00000320081.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CLK1_chr2_200848009_200869658 | 200858842 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(262): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(115): Show |
265 | 418 | 0.6340 | 5 | c.549 others(20): Show |
CLK1 | ENSG00000013441.17 | transcript | ENST00000321356.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
CLK4_chr5_178597664_178632050 | 178627217 | A | AGCGCC | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01346.hp2 NA18943.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0050 others(5): Show |
8 | 384 | 0.0208 | 5 | c.-27 others(14): Show |
CLK4 | ENSG00000113240.14 | transcript | ENST00000316308.9 | protein_coding | 168 | chr5 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95243719 | A | ATTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(34): Show | a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0098 others(51): Show |
58 | 276 | 0.2101 | 5 | c.83- others(22): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95245330 | A | AATGTT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(64): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(37): Show | a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0098 others(60): Show |
67 | 276 | 0.2428 | 5 | c.83- others(22): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95247113 | A | AGCTCT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(64): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(37): Show | a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0098 others(60): Show |
67 | 276 | 0.2428 | 5 | c.83- others(22): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95319928 | C | CGGGCG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(36): Show |
a0001a0010 | a0001c0002a0001c0005a0001c0013others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(14): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(36): Show |
39 | 276 | 0.1413 | 5 | c.-13 others(14): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 21 | chr14 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123074173 | C | CTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG01943.hp2 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0015a0002c0002t0018others(4): Show | a0002c0002t0009g0037 a0002c0002t0009g0067 a0002c0002t0009g0076 others(12): Show |
15 | 254 | 0.0591 | 5 | c.822 others(20): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123125504 | C | CTCCCT | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00642.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0045 others(32): Show |
35 | 254 | 0.1378 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123128035 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01943.hp2 HG01952.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0002g0189 a0001c0001t0002g0247 a0001c0001t0005g0104 others(5): Show |
8 | 254 | 0.0315 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123131607 | T | TTTTTC | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0002g0189 others(50): Show |
53 | 254 | 0.2087 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123131618 | T | TTTTCC | intron_variant | MODIFIER | HG02451.hp2 NA18906.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0021 | a0001c0001t0003g0113 a0001c0001t0014g0125 a0001c0001t0021g0222 |
3 | 254 | 0.0118 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123134660 | A | AAAAGT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00642.hp2 others(81): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(81): Show |
84 | 254 | 0.3307 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123135259 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01070.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(49): Show |
52 | 254 | 0.2047 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123141173 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp2 HG01192.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0053 a0001c0001t0003g0135 a0001c0001t0003g0138 others(8): Show |
11 | 254 | 0.0433 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150532 | G | GAAGGC | intron_variant | MODIFIER | HG02129.hp1 NA18954.hp1 NA18959.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0020others(2): Show | a0001c0001t0002g0202 a0001c0001t0004g0109 a0001c0001t0020g0249 others(3): Show |
6 | 254 | 0.0236 | 5 | c.28+ others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150534 | A | AGGAAG | intron_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0002g0196 others(2): Show |
5 | 254 | 0.0197 | 5 | c.28+ others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123171427 | T | TTTTTC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 others(84): Show |
87 | 254 | 0.3425 | 5 | c.28+ others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28474267 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0258 a0001c0001t0004g0013 |
4 | 360 | 0.0111 | 5 | c.*32 others(16): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 3011 | chr16 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28478617 | T | TAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp2 HG02071.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0003 | a0001c0001t0001g0028 a0001c0001t0001g0100 a0001c0001t0001g0102 others(7): Show |
12 | 360 | 0.0333 | 5 | c.105 others(22): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28479590 | A | AAAAAC | intron_variant | MODIFIER | HG02165.hp1 NA18952.hp2 NA18953.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0027 a0001c0001t0001g0108 a0006c0006t0001g0101 |
4 | 360 | 0.0111 | 5 | c.105 others(24): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | |||||||
CLN6_chr15_68201992_68234728 | 68202807 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02572.hp1 HG02965.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0104 others(5): Show |
11 | 324 | 0.0340 | 5 | c.*53 others(16): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 4184 | chr15 | TogoVar | |||||||
CLN6_chr15_68201992_68234728 | 68229767 | A | AGGGAG | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02145.hp2 others(29): Show |
a0001a0006 | a0001c0001a0001c0010a0006c0013 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 others(23): Show |
32 | 324 | 0.0988 | 5 | c.-18 others(14): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763601 | G | GCGCCC | upstream_gene_variant | MODIFIER | HG01071.hp1 HG02109.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0029others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0026 others(6): Show |
11 | 413 | 0.0266 | 5 | c.-40 others(14): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 187 | chr8 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10531410 | C | CTATTT | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0050 a0001c0001t0004g0143 a0001c0001t0004g0161 others(1): Show |
4 | 320 | 0.0125 | 5 | c.630 others(20): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 12/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10605825 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0085 others(177): Show |
180 | 320 | 0.5625 | 5 | c.12- others(20): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10615518 | A | AAAAAC | intron_variant | MODIFIER | HG01192.hp1 HG02809.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0002g0137 others(1): Show |
4 | 320 | 0.0125 | 5 | c.12- others(22): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10637438 | G | GTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02738.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0154 a0001c0001t0003g0308 a0001c0001t0008g0307 others(6): Show |
9 | 320 | 0.0281 | 5 | c.11+ others(22): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10652381 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01167.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0292 a0001c0001t0003g0090 a0001c0001t0007g0094 others(10): Show |
13 | 320 | 0.0406 | 5 | c.11+ others(22): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10676393 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG01243.hp1 others(9): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0039 a0001c0001t0001g0101 a0001c0001t0002g0065 others(9): Show |
12 | 320 | 0.0375 | 5 | c.-43 others(22): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 1/18 | chr4 | TogoVar | |||||||
CLOCK_chr4_55422903_55551909 | 55440966 | A | AAAAAC | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02976.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0062 | a0002c0003t0005g0327 a0002c0003t0005g0328 a0002c0003t0005g0329 others(3): Show |
6 | 338 | 0.0178 | 5 | c.210 others(24): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 21/22 | chr4 | TogoVar | |||||||
CLOCK_chr4_55422903_55551909 | 55445105 | T | TCCCGG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(106): Show |
a0001a0003a0007 | a0001c0001a0001c0012a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0082 others(105): Show |
109 | 338 | 0.3225 | 5 | c.154 others(22): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | |||||||
CLOCK_chr4_55422903_55551909 | 55511288 | C | CTAGTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(106): Show |
a0001a0003a0007 | a0001c0001a0001c0012a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0082 others(105): Show |
109 | 338 | 0.3225 | 5 | c.-28 others(24): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
CLOCK_chr4_55422903_55551909 | 55531703 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG01070.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0015others(6): Show | a0001c0001t0006g0053 a0001c0001t0006g0058 a0001c0001t0009g0009 others(9): Show |
12 | 338 | 0.0355 | 5 | c.-29 others(26): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
CLPB_chr11_72280495_72439531 | 72366215 | C | CTTGTT | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00642.hp1 others(31): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0031a0001c0001t0032a0001c0001t0033others(18): Show | a0001c0001t0031g0105 a0001c0001t0031g0106 a0001c0001t0032g0020 others(31): Show |
34 | 206 | 0.1651 | 5 | c.736 others(22): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 5/16 | chr11 | TogoVar | |||||||
CLPB_chr11_72280495_72439531 | 72371533 | A | AAAAAT | intron_variant | MODIFIER | HG02148.hp2 HG02717.hp2 HG02896.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0015a0001c0001t0027a0002c0003t0016others(1): Show | a0001c0001t0015g0170 a0001c0001t0027g0006 a0001c0001t0027g0007 others(4): Show |
7 | 206 | 0.0340 | 5 | c.736 others(22): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 5/16 | chr11 | TogoVar | |||||||
CLPP_chr19_6356531_6375242 | 6358933 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02004.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 a0001c0001t0003g0082 |
7 | 380 | 0.0184 | 5 | c.-26 others(16): Show |
CLPP | ENSG00000125656.11 | transcript | ENST00000245816.11 | protein_coding | 2597 | chr19 | TogoVar | |||||||
CLPS_chr6_35789982_35802323 | 35793425 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 |
7 | 418 | 0.0168 | 5 | c.*17 others(16): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 1556 | chr6 | TogoVar | |||||||
CLPS_chr6_35789982_35802323 | 35795224 | C | CCATAA | frameshift_variant | HIGH | HG03688.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0023 | 1 | 418 | 0.0024 | 5 | c.260 others(12): Show |
p.Glu others(4): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 3/3 | 295/538 | 260/339 | 87/112 | chr6 | TogoVar | |||
CLPTM1_chr19_44950380_44998341 | 44954150 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01358.hp1 HG02109.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0043 a0001c0001t0001g0238 a0001c0001t0001g0248 others(8): Show |
12 | 374 | 0.0321 | 5 | c.-12 others(16): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 1229 | chr19 | TogoVar | |||||||
CLPTM1_chr19_44950380_44998341 | 44954274 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG02055.hp2 HG02615.hp2 others(6): Show |
a0001a0015 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0052 a0001c0002t0002g0062 a0001c0002t0002g0068 others(6): Show |
9 | 374 | 0.0241 | 5 | c.-11 others(16): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 1105 | chr19 | TogoVar | |||||||
CLPTM1_chr19_44950380_44998341 | 44973761 | G | GTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01243.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0233 others(9): Show |
13 | 374 | 0.0348 | 5 | c.309 others(20): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLPTM1_chr19_44950380_44998341 | 44986854 | G | GTATCA | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp1 NA18906.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0001g0032 |
3 | 374 | 0.0080 | 5 | c.793 others(20): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 7/13 | chr19 | TogoVar |