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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19001.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032 | a0001c0001t0002g0159 a0001c0001t0032g0027 a0001c0001t0032g0028 |
3 | 114 | 0.0263 | 25 | c.535 others(44): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01433.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0027 a0001c0001t0001g0084 a0001c0001t0001g0125 others(2): Show |
5 | 95 | 0.0526 | 25 | c.127 others(44): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18786763 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 49 | 0.0204 | 25 | c.*93 others(36): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4431 | chr19 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647246 | T | TCTGCCAC others(18): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 241 | 0.0041 | 25 | c.*51 others(36): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1902 | chr15 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAGAGA others(18): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0120 | 1 | 167 | 0.0060 | 25 | c.-91 others(34): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAGAGA others(18): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 167 | 0.0060 | 25 | c.-91 others(34): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | |||||||
CRYBG3_chr3_97817011_97949984 | 97881823 | C | CCTATAAT others(18): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02559.hp2 others(1): Show |
a0007 | a0007c0009 | a0007c0009t0005 | a0007c0009t0005g0035 a0007c0009t0005g0254 a0007c0009t0005g0255 |
4 | 314 | 0.0127 | 25 | c.715 others(42): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00673.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0004g0009 others(4): Show |
23 | 210 | 0.1095 | 25 | c.*17 others(36): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20485685 | T | TAGAAAAG others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG01952.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0155 a0001c0001t0001g0201 a0001c0002t0001g0189 others(3): Show |
6 | 161 | 0.0373 | 25 | c.276 others(42): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03239.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0272 a0001c0001t0001g0274 others(1): Show |
4 | 6 | 0.6667 | 25 | c.332 others(42): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 62 | 0.0161 | 25 | c.-12 others(42): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49065312 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 250 | 0.0040 | 25 | c.229 others(40): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | chr20 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18968.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0063 |
2 | 257 | 0.0078 | 25 | c.229 others(40): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02074.hp2 HG02897.hp2 others(2): Show |
a0001a0012 | a0001c0001a0012c0019 | a0001c0001t0001a0001c0001t0010a0012c0019t0009 | a0001c0001t0001g0065 a0001c0001t0001g0141 a0001c0001t0001g0209 others(2): Show |
5 | 78 | 0.0641 | 25 | c.-29 others(46): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19599472 | A | AAAGAAAG others(18): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0156 | 1 | 44 | 0.0227 | 25 | c.-29 others(44): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19599512 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0104 | 1 | 236 | 0.0042 | 25 | c.-29 others(44): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19599527 | A | AGAAAGAA others(18): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0058 | 1 | 236 | 0.0042 | 25 | c.-29 others(44): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666809 | A | AAGAAAGA others(18): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0006 | a0006c0021 | a0006c0021t0040 | a0006c0021t0040g0178 | 1 | 172 | 0.0058 | 25 | c.-39 others(46): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898111 | T | TTTCTTTC others(18): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0023 | 25 | c.-16 others(36): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1538 | chr17 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0054 | 1 | 164 | 0.0061 | 25 | c.-66 others(42): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0060 | 1 | 164 | 0.0061 | 25 | c.-66 others(42): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3155359 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0070 | 1 | 6 | 0.1667 | 25 | c.591 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3384784 | A | ATATATAA others(18): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0021 | 1 | 126 | 0.0079 | 25 | c.278 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 18/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3439310 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0116 | a0007c0116t0004 | a0007c0116t0004g0039 | 1 | 123 | 0.0081 | 25 | c.156 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3670578 | G | GATATATA others(18): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00735.hp1 others(10): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0020others(10): Show | a0001c0001t0002a0001c0004t0063a0001c0020t0018others(10): Show | a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0020t0018g0065 others(10): Show |
13 | 115 | 0.1130 | 25 | c.100 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4051873 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19043.hp1 |
a0001 | a0001c0039a0001c0093 | a0001c0039t0064a0001c0093t0009 | a0001c0039t0064g0080 a0001c0093t0009g0007 |
2 | 51 | 0.0392 | 25 | c.416 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258317 | A | AGAGGGAG others(18): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0051 | a0002c0051t0007 | a0002c0051t0007g0081 | 1 | 126 | 0.0079 | 25 | c.415 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4404753 | C | CTTAGTAT others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0115 | a0001c0115t0042 | a0001c0115t0042g0055 | 1 | 126 | 0.0079 | 25 | c.415 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4441095 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03669.hp1 HG04204.hp2 |
a0001 | a0001c0001a0001c0006a0001c0073 | a0001c0001t0002a0001c0006t0002a0001c0073t0006 | a0001c0001t0002g0102 a0001c0006t0002g0109 a0001c0073t0006g0108 |
3 | 34 | 0.0882 | 25 | c.303 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4519742 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0028 | a0028c0044 | a0028c0044t0071 | a0028c0044t0071g0085 | 1 | 6 | 0.1667 | 25 | c.303 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4680066 | G | GACATTAA others(18): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0083 | 1 | 126 | 0.0079 | 25 | c.86- others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4764880 | A | ACAAAACA others(18): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0005 | 1 | 123 | 0.0081 | 25 | c.86- others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34076928 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0019 | a0019c0028 | a0019c0028t0007 | a0019c0028t0007g0041 | 1 | 38 | 0.0263 | 25 | c.404 others(44): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112270363 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0012 | 1 | 77 | 0.0130 | 25 | c.950 others(44): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64229902 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 12 | 0.0833 | 25 | c.293 others(44): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 4/11 | chr15 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64238518 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0118 | 1 | 47 | 0.0213 | 25 | c.292 others(44): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 4/11 | chr15 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64352447 | C | CTTCTTTT others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01261.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 |
3 | 40 | 0.0750 | 25 | c.-22 others(44): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
CSNK1G2_chr19_1936172_1986338 | 1960709 | A | AAAACCTT others(18): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 380 | 0.0026 | 25 | c.-26 others(44): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CSNK2A1_chr20_467498_548790 | 485105 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 203 | 0.0049 | 25 | c.106 others(44): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
CSNK2A1_chr20_467498_548790 | 485109 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0024 | 1 | 127 | 0.0079 | 25 | c.106 others(44): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
CSNK2A1_chr20_467498_548790 | 485109 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 127 | 0.0079 | 25 | c.106 others(44): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
CSNK2A2_chr16_58152907_58203106 | 58171980 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0174 |
2 | 318 | 0.0063 | 25 | c.429 others(42): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88457695 | C | CAAAATAA others(18): Show |
intron_variant | MODIFIER | HG01168.hp2 HG04228.hp2 NA18906.hp1 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0001 | a0002c0002t0001g0047 a0004c0005t0001g0115 a0004c0005t0001g0224 |
3 | 102 | 0.0294 | 25 | c.-27 others(44): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67159957 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02293.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0081 |
3 | 82 | 0.0366 | 25 | c.253 others(42): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165662127 | G | GAAACAAA others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(43): Show | a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0166 others(113): Show |
117 | 238 | 0.4916 | 25 | c.408 others(42): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165666542 | A | AAAGAGAG others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(48): Show | a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0014 others(132): Show |
136 | 235 | 0.5787 | 25 | c.408 others(42): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSTF1_chr20_56387645_56411362 | 56389784 | A | AAGCCTTG others(18): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 420 | 0.0024 | 25 | c.-29 others(36): Show |
CSTF1 | ENSG00000101138.12 | transcript | ENST00000217109.9 | protein_coding | 2860 | chr20 | TogoVar | |||||||
CSTF1_chr20_56387645_56411362 | 56404812 | A | ATTTTTTT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG03491.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0082 | a0001c0001t0048g0001 a0001c0001t0082g0001 |
2 | 32 | 0.0625 | 25 | c.*10 others(36): Show |
CSTF1 | ENSG00000101138.12 | transcript | ENST00000217109.9 | protein_coding | 6/6 | 1112 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CT83_chrX_116456686_116467976 | 116467651 | A | ACACAACC others(18): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 25 | c.-47 others(36): Show |
CT83 | ENSG00000204019.5 | transcript | ENST00000371894.5 | protein_coding | 4676 | chrX | TogoVar | |||||||
CTDSPL2_chr15_44422629_44534038 | 44506025 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 151 | 0.0066 | 25 | c.969 others(42): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |