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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 3968004 | T | TAAAAAAA | intron_variant | MODIFIER | HG02559.hp1 HG03540.hp1 HG06807.hp1 others(3): Show |
a0001a0002a0008others(1): Show | a0001c0004a0001c0019a0002c0015others(3): Show | a0001c0004t0020a0001c0019t0078a0002c0015t0021others(3): Show | a0001c0004t0020g0086a0001c0019t0078g0105a0002c0015t0021g0008others(3): Show | 6 | 126 | 0.0476 | 7 | c.818 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4187676 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00735.hp1 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0025a0001c0043others(17): Show | a0001c0002t0002a0001c0025t0003a0001c0043t0031others(17): Show | a0001c0002t0002g0083a0001c0025t0003g0077a0001c0043t0031g0044others(17): Show | 20 | 126 | 0.1587 | 7 | c.416 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4455929 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01071.hp2 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0047a0002c0015others(7): Show | a0001c0001t0039a0001c0047t0014a0002c0015t0021others(7): Show | a0001c0001t0039g0017a0001c0047t0014g0024a0002c0015t0021g0008others(7): Show | 10 | 126 | 0.0794 | 7 | c.303 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4594195 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02647.hp2 others(3): Show |
a0001a0002a0009 | a0001c0043a0001c0046a0001c0068others(3): Show | a0001c0043t0031a0001c0046t0073a0001c0068t0015others(3): Show | a0001c0043t0031g0044a0001c0046t0073g0091a0001c0068t0015g0049others(3): Show | 6 | 126 | 0.0476 | 7 | c.302 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4645444 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp2 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0002a0001c0002t0061a0001c0004t0063others(13): Show | a0001c0001t0002g0102a0001c0002t0061g0069a0001c0004t0063g0095others(13): Show | 16 | 126 | 0.1270 | 7 | c.86- others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4750238 | A | ACATTGTG | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02559.hp2 others(3): Show |
a0001a0002a0005 | a0001c0043a0001c0068a0002c0022others(3): Show | a0001c0043t0031a0001c0068t0015a0002c0022t0036others(3): Show | a0001c0043t0031g0044a0001c0068t0015g0049a0002c0022t0036g0048others(3): Show | 6 | 126 | 0.0476 | 7 | c.86- others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4764872 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01123.hp1 others(2): Show |
a0001a0004a0008others(1): Show | a0001c0043a0004c0056a0004c0087others(2): Show | a0001c0043t0031a0004c0056t0062a0004c0087t0001others(2): Show | a0001c0043t0031g0044a0004c0056t0062g0072a0004c0087t0001g0022others(2): Show | 5 | 126 | 0.0397 | 7 | c.86- others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4825933 | G | GCAGCTAT | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01081.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0039a0001c0002t0061a0001c0003t0019others(6): Show | a0001c0001t0039g0017a0001c0002t0061g0069a0001c0003t0019g0107others(6): Show | 9 | 126 | 0.0714 | 7 | c.85+ others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4881460 | T | TATCTATC | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp2 NA18979.hp1 others(2): Show |
a0001a0002a0004 | a0001c0049a0001c0061a0001c0115others(2): Show | a0001c0049t0002a0001c0061t0001a0001c0115t0042others(2): Show | a0001c0049t0002g0071a0001c0061t0001g0021a0001c0115t0042g0055others(2): Show | 5 | 126 | 0.0397 | 7 | c.85+ others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33512943 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03017.hp1 NA18998.hp1 others(1): Show |
a0001a0002a0010 | a0001c0001a0001c0040a0002c0027others(1): Show | a0001c0001t0001a0001c0040t0001a0002c0027t0003others(1): Show | a0001c0001t0001g0033a0001c0040t0001g0010a0002c0027t0003g0045others(1): Show | 4 | 66 | 0.0606 | 7 | c.*36 others(18): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1054 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33512946 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0026a0002c0002a0002c0006others(2): Show | a0001c0026t0003a0002c0002t0005a0002c0006t0004others(2): Show | a0001c0026t0003g0035a0002c0002t0005g0036a0002c0006t0004g0052others(2): Show | 5 | 66 | 0.0758 | 7 | c.*36 others(18): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1051 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33950543 | A | ATGGCATG | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02055.hp1 others(12): Show |
a0004a0005a0006others(7): Show | a0004c0032a0004c0049a0004c0051others(12): Show | a0004c0032t0001a0004c0049t0009a0004c0051t0001others(12): Show | a0004c0032t0001g0022a0004c0049t0009g0012a0004c0051t0001g0019others(12): Show | 15 | 66 | 0.2273 | 7 | c.518 others(26): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112360553 | C | CAAATGGT | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02717.hp1 others(6): Show |
a0001a0002a0005others(4): Show | a0001c0023a0002c0032a0005c0012others(5): Show | a0001c0023t0001a0002c0032t0001a0005c0012t0001others(5): Show | a0001c0023t0001g0056a0002c0032t0001g0079a0005c0012t0001g0038others(6): Show | 9 | 80 | 0.1125 | 7 | c.613 others(26): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112458305 | T | TATTTCAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00741.hp2 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0017others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0016a0001c0001t0002g0014a0001c0001t0002g0022others(25): Show | 28 | 80 | 0.3500 | 7 | c.539 others(28): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112526421 | C | CACCCACA | intron_variant | MODIFIER | HG03225.hp1 HG03516.hp1 |
a0008a0013 | a0008c0014a0013c0026 | a0008c0014t0005a0013c0026t0001 | a0008c0014t0005g0040a0013c0026t0001g0057 | 2 | 80 | 0.0250 | 7 | c.456 others(26): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 27/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112609201 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG02735.hp1 HG02976.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0002c0005t0001others(3): Show | a0001c0001t0002g0068a0001c0001t0004g0018a0001c0001t0004g0042others(7): Show | 10 | 80 | 0.1250 | 7 | c.371 others(28): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113153101 | A | AAAGAAAG | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01081.hp1 others(6): Show |
a0002a0004a0014others(1): Show | a0002c0003a0002c0005a0002c0033others(3): Show | a0002c0003t0003a0002c0003t0008a0002c0005t0001others(5): Show | a0002c0003t0003g0062a0002c0003t0008g0077a0002c0005t0001g0035others(6): Show | 9 | 80 | 0.1125 | 7 | c.709 others(26): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | ||||||
CSN3_chr4_70237597_70256432 | 70253815 | A | AAAGAAAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(15): Show | 73 | 464 | 0.1573 | 7 | c.*25 others(18): Show |
CSN3 | ENSG00000171209.4 | transcript | ENST00000304954.4 | protein_coding | 2384 | chr4 | TogoVar | ||||||
CSNK1D_chr17_82237667_82278700 | 82263184 | C | CAAAAACA | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0045 | 3 | 320 | 0.0094 | 7 | c.187 others(24): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CSNK1D_chr17_82237667_82278700 | 82273274 | T | TCGGGCGG | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG02109.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0012 | a0001c0001t0002g0034a0001c0001t0002g0035a0001c0001t0002g0220others(19): Show | 24 | 320 | 0.0750 | 7 | c.76+ others(18): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
CSNK1E_chr22_38285691_38322433 | 38305467 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(359): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(104): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0017others(269): Show | 362 | 412 | 0.8786 | 7 | c.77- others(22): Show |
CSNK1E | ENSG00000213923.13 | transcript | ENST00000396832.6 | protein_coding | 2/10 | chr22 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64182053 | G | GTTTTTTT | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0020others(1): Show | a0001c0001t0003g0146a0001c0001t0003g0147a0001c0001t0003g0148others(6): Show | 9 | 176 | 0.0511 | 7 | c.110 others(26): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64193491 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01261.hp1 others(26): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(10): Show | a0001c0001t0004g0125a0001c0001t0004g0126a0001c0001t0004g0128others(26): Show | 29 | 176 | 0.1648 | 7 | c.110 others(26): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64229902 | A | ATTTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG02083.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0001 | a0001c0001t0003g0148a0001c0001t0006g0160a0001c0001t0006g0164others(3): Show | 6 | 176 | 0.0341 | 7 | c.293 others(26): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 4/11 | chr15 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1967969 | G | GCTCCTCC | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0020a0001c0001t0005g0242a0001c0001t0005g0254others(3): Show | 6 | 382 | 0.0157 | 7 | c.-26 others(26): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CSNK1G2_chr19_1936172_1986338 | 1967970 | C | CTCCTCCT | intron_variant | MODIFIER | HG02615.hp2 HG03453.hp2 NA18945.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0028a0001c0004t0002 | a0001c0001t0001g0023a0001c0001t0001g0197a0001c0001t0001g0212others(4): Show | 7 | 382 | 0.0183 | 7 | c.-26 others(26): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CSNK1G2_chr19_1936172_1986338 | 1967979 | C | CCTCCCTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0057others(63): Show | 68 | 382 | 0.1780 | 7 | c.-26 others(26): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CSNK1G2_chr19_1936172_1986338 | 1968034 | C | CCTCCCTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0027others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0056a0001c0001t0001g0057others(51): Show | 54 | 382 | 0.1414 | 7 | c.-26 others(26): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CSNK1G2_chr19_1936172_1986338 | 1968138 | G | GCTCCTCC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0157others(40): Show | 43 | 382 | 0.1126 | 7 | c.-26 others(26): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CSNK2A1_chr20_467498_548790 | 485103 | A | ATATATAT | intron_variant | MODIFIER | HG01981.hp1 HG04115.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0033 | a0001c0001t0003g0044a0001c0001t0003g0168a0001c0001t0033g0161 | 3 | 316 | 0.0095 | 7 | c.106 others(26): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
CSNK2A1_chr20_467498_548790 | 548577 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG02004.hp1 HG02257.hp2 HG02602.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(2): Show | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0116others(7): Show | 10 | 316 | 0.0317 | 7 | c.-51 others(18): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 4788 | chr20 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58171980 | T | TATATATA | intron_variant | MODIFIER | HG02523.hp1 HG02602.hp2 HG02683.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0179a0001c0001t0001g0181others(4): Show | 7 | 400 | 0.0175 | 7 | c.429 others(24): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58182374 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0277a0001c0001t0001g0278others(1): Show | 6 | 400 | 0.0150 | 7 | c.369 others(24): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 4/11 | chr16 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88445275 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02280.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0131a0001c0001t0001g0207a0001c0001t0001g0208others(11): Show | 16 | 386 | 0.0415 | 7 | c.-27 others(28): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSPP1_chr8_67059392_67201614 | 67104967 | T | TATATATA | intron_variant | MODIFIER | HG03516.hp2 NA18957.hp1 |
a0002a0003 | a0002c0007a0003c0003 | a0002c0007t0002a0003c0003t0001 | a0002c0007t0002g0146a0003c0003t0001g0016 | 2 | 158 | 0.0127 | 7 | c.102 others(24): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 8/30 | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67159828 | C | CTCTTTCT | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0124a0002c0002t0002g0127 | 2 | 158 | 0.0127 | 7 | c.253 others(24): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CSPP1_chr8_67059392_67201614 | 67159956 | T | TTCTTTTC | intron_variant | MODIFIER | HG02683.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0150 | 2 | 158 | 0.0127 | 7 | c.253 others(24): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | chr8 | TogoVar | ||||||
CSRNP2_chr12_51056205_51088596 | 51072562 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01106.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025a0001c0001t0029 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0185others(15): Show | 33 | 420 | 0.0786 | 7 | c.411 others(24): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
CSRNP2_chr12_51056205_51088596 | 51080072 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01515.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0003t0002others(2): Show | a0001c0001t0002g0032a0001c0001t0002g0088a0001c0001t0002g0089others(9): Show | 13 | 420 | 0.0310 | 7 | c.-87 others(24): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165666542 | A | AAAGAGAG | intron_variant | MODIFIER | HG00609.hp2 NA18992.hp1 NA19082.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0005 | a0001c0001t0003g0185a0001c0002t0001g0205a0001c0002t0005g0068 | 3 | 246 | 0.0122 | 7 | c.408 others(24): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165666871 | G | GGAAGGAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00738.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0023others(15): Show | a0001c0001t0002g0016a0001c0001t0011g0139a0001c0001t0023g0138others(29): Show | 32 | 246 | 0.1301 | 7 | c.408 others(24): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | chr2 | TogoVar | ||||||
CST5_chr20_23870934_23884748 | 23878637 | C | CTCCACAG | intron_variant | MODIFIER | HG01433.hp1 HG03669.hp2 HG04199.hp2 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0049 | 17 | 446 | 0.0381 | 7 | c.231 others(22): Show |
CST5 | ENSG00000170367.5 | transcript | ENST00000304710.5 | protein_coding | 1/2 | chr20 | TogoVar | ||||||
CST6_chr11_66007008_66018505 | 66015714 | T | TCCTGGGC | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010 | 6 | 414 | 0.0145 | 7 | c.*23 others(18): Show |
CST6 | ENSG00000175315.3 | transcript | ENST00000312134.3 | protein_coding | 2210 | chr11 | TogoVar | ||||||
CSTF1_chr20_56387645_56411362 | 56404772 | A | AGTAGCTG | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0008a0001c0001t0016a0001c0001t0083others(4): Show | a0001c0001t0008g0001a0001c0001t0008g0002a0001c0001t0008g0012others(9): Show | 18 | 422 | 0.0427 | 7 | c.*10 others(18): Show |
CSTF1 | ENSG00000101138.12 | transcript | ENST00000217109.9 | protein_coding | 6/6 | 1054 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
CSTF3_chr11_33079584_33166480 | 33085362 | C | CTTTATAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(222): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(199): Show | 225 | 360 | 0.6250 | 7 | c.195 others(22): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 20/20 | chr11 | TogoVar | ||||||
CSTF3_chr11_33079584_33166480 | 33163926 | T | TATATATA | upstream_gene_variant | MODIFIER | HG02071.hp2 NA18939.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0247a0001c0001t0001g0318 | 3 | 360 | 0.0083 | 7 | c.-26 others(18): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2447 | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47022420 | A | AGTACAGT | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01192.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0073a0001c0001t0001g0083a0001c0001t0001g0090others(14): Show | 17 | 224 | 0.0759 | 7 | c.150 others(26): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47101164 | A | ATTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG02647.hp2 HG03209.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0127a0001c0001t0001g0145others(5): Show | 8 | 224 | 0.0357 | 7 | c.281 others(26): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47110890 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01081.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0012others(29): Show | 32 | 224 | 0.1429 | 7 | c.281 others(26): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAAATAT | intron_variant | MODIFIER | HG00673.hp1 HG03130.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0190a0001c0001t0001g0191others(2): Show | 5 | 224 | 0.0223 | 7 | c.281 others(26): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |