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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSNK2A2_chr16_58152907_58203106 | 58171980 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02027.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0016 others(5): Show |
9 | 325 | 0.0277 | 11 | c.429 others(28): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88445275 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02080.hp2 HG02083.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325 a0001c0001t0002g0333 a0001c0001t0002g0340 others(3): Show |
6 | 70 | 0.0857 | 11 | c.-27 others(32): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSPG5_chr3_47557238_47583865 | 47559383 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0144 | 1 | 243 | 0.0041 | 11 | c.*32 others(22): Show |
CSPG5 | ENSG00000114646.10 | transcript | ENST00000264723.9 | protein_coding | 2854 | chr3 | TogoVar | |||||||
CSPG5_chr3_47557238_47583865 | 47573533 | G | GTGGGTTT others(4): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 360 | 0.0028 | 11 | c.119 others(28): Show |
CSPG5 | ENSG00000114646.10 | transcript | ENST00000264723.9 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
CSPP1_chr8_67059392_67201614 | 67104966 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0031 | 1 | 125 | 0.0080 | 11 | c.102 others(28): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67104966 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0144 | 1 | 125 | 0.0080 | 11 | c.102 others(28): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67104967 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 129 | 0.0078 | 11 | c.102 others(28): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 8/30 | chr8 | TogoVar | |||||||
CSPP1_chr8_67059392_67201614 | 67159957 | C | CCTTCTTC others(4): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0133 | 1 | 80 | 0.0125 | 11 | c.253 others(28): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | chr8 | TogoVar | |||||||
CSPP1_chr8_67059392_67201614 | 67159957 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03491.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0084 |
3 | 82 | 0.0366 | 11 | c.253 others(28): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CSRNP2_chr12_51056205_51088596 | 51072562 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 23 | 0.0435 | 11 | c.411 others(28): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
CSRNP3_chr2_165464698_165694407 | 165653972 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0121 | 1 | 57 | 0.0175 | 11 | c.149 others(28): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197501 | C | CTCTTCTT others(4): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 116 | 0.0086 | 11 | c.-29 others(28): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CSRP3_chr11_19177030_19206983 | 19197572 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 412 | 0.0024 | 11 | c.-29 others(28): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CST1_chr20_23742562_23755935 | 23747030 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 470 | 0.0021 | 11 | c.*78 others(20): Show |
CST1 | ENSG00000170373.9 | transcript | ENST00000304749.7 | protein_coding | 531 | chr20 | TogoVar | |||||||
CST8_chr20_23486117_23501010 | 23490304 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02559.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(2): Show |
13 | 348 | 0.0374 | 11 | c.-11 others(22): Show |
CST8 | ENSG00000125815.9 | transcript | ENST00000246012.2 | protein_coding | 812 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23559786 | T | TTGTTTTC others(4): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 390 | 0.0026 | 11 | c.*51 others(22): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 4945 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23560967 | C | CTTTCTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 384 | 0.0026 | 11 | c.*39 others(22): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3764 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23561060 | C | CTTCTTTC others(4): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 381 | 0.0026 | 11 | c.*38 others(22): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3671 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23561083 | C | CTTTCTTT others(4): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 388 | 0.0026 | 11 | c.*38 others(22): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3648 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23561084 | C | CTTCTTTC others(4): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 222 | 0.0045 | 11 | c.*38 others(22): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3647 | chr20 | TogoVar | |||||||
CSTF1_chr20_56387645_56411362 | 56404812 | A | ATTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0094 | 1 | 31 | 0.0323 | 11 | c.*11 others(22): Show |
CSTF1 | ENSG00000101138.12 | transcript | ENST00000217109.9 | protein_coding | 6/6 | 1112 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSTF2T_chr10_51690486_51704595 | 51704275 | A | AGATAGAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0000 | 1 | 426 | 0.0023 | 11 | c.-47 others(22): Show |
CSTF2T | ENSG00000177613.9 | transcript | ENST00000331173.6 | protein_coding | 4681 | chr10 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33114463 | A | AAAAATCC others(4): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 358 | 0.0028 | 11 | c.226 others(28): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 3/20 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163925 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0250 a0001c0001t0004g0190 |
2 | 236 | 0.0085 | 11 | c.-26 others(22): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2446 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163926 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 353 | 0.0028 | 11 | c.-26 others(22): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2447 | chr11 | TogoVar | |||||||
CSTPP1_chr11_46931761_47167247 | 47101164 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 90 | 0.0111 | 11 | c.281 others(30): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47122089 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0151 |
2 | 198 | 0.0101 | 11 | c.281 others(30): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0086 | 1 | 98 | 0.0102 | 11 | c.281 others(30): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 98 | 0.0102 | 11 | c.281 others(30): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 98 | 0.0102 | 11 | c.281 others(30): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 98 | 0.0102 | 11 | c.281 others(30): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
CT45A6_chrX_135789685_135807787 | 135803898 | A | AAAGAAAG others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(16): Show |
24 | 31 | 0.7742 | 11 | c.-13 others(22): Show |
CT45A6 | ENSG00000278289.5 | transcript | ENST00000620654.2 | protein_coding | 1112 | chrX | TogoVar | |||||||
CT45A7_chrX_135824229_135842280 | 135838419 | A | AAAGAAAG others(4): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG03139.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0001 a0003c0003t0002g0016 |
2 | 8 | 0.2500 | 11 | c.-13 others(22): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1140 | chrX | TogoVar | |||||||
CT45A9_chrX_135858418_135876812 | 135863284 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 4 | 0.2500 | 11 | c.*68 others(20): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 133 | chrX | TogoVar | |||||||
CT45A9_chrX_135858418_135876812 | 135863321 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 13 | 0.0769 | 11 | c.*64 others(20): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 96 | chrX | TogoVar | |||||||
CTBP2_chr10_124979317_125033071 | 125031488 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0018 | a0018c0030 | a0018c0030t0087 | a0018c0030t0087g0258 | 1 | 43 | 0.0233 | 11 | c.-37 others(22): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 3418 | chr10 | TogoVar | |||||||
CTBS_chr1_84544611_84579440 | 84560097 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | NA18988.hp2 NA19063.hp2 |
a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0051 a0002c0003t0014g0052 |
2 | 70 | 0.0286 | 11 | c.957 others(28): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
CTC1_chr17_8219815_8253056 | 8237665 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0105 | 1 | 35 | 0.0286 | 11 | c.648 others(26): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 4/22 | chr17 | TogoVar | |||||||
CTC1_chr17_8219815_8253056 | 8248410 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG02055.hp1 HG02145.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0013 | a0001c0002t0004g0143 a0001c0002t0004g0199 a0001c0002t0013g0133 others(1): Show |
4 | 79 | 0.0506 | 11 | c.-38 others(20): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 355 | chr17 | TogoVar | |||||||
CTCFL_chr20_57492166_57530140 | 57499073 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0278 | 1 | 363 | 0.0028 | 11 | c.184 others(28): Show |
CTCFL | ENSG00000124092.13 | transcript | ENST00000243914.8 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
CTCFL_chr20_57492166_57530140 | 57499085 | G | GGGGGGGG others(4): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0303 | 1 | 159 | 0.0063 | 11 | c.184 others(28): Show |
CTCFL | ENSG00000124092.13 | transcript | ENST00000243914.8 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
CTCF_chr16_67557526_67644177 | 67584334 | C | CGTCTTCT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 163 | 0.0061 | 11 | c.-10 others(30): Show |
CTCF | ENSG00000102974.16 | transcript | ENST00000264010.10 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CTCF_chr16_67557526_67644177 | 67584337 | C | CTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0006g0135 |
3 | 112 | 0.0268 | 11 | c.-10 others(30): Show |
CTCF | ENSG00000102974.16 | transcript | ENST00000264010.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CTCF_chr16_67557526_67644177 | 67608018 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 a0001c0001t0002g0157 |
2 | 81 | 0.0247 | 11 | c.-9- others(26): Show |
CTCF | ENSG00000102974.16 | transcript | ENST00000264010.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CTCF_chr16_67557526_67644177 | 67629746 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013 | a0001c0001t0001g0082 a0001c0001t0005g0044 a0001c0001t0013g0045 |
3 | 15 | 0.2000 | 11 | c.183 others(28): Show |
CTCF | ENSG00000102974.16 | transcript | ENST00000264010.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CTCF_chr16_67557526_67644177 | 67631154 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02486.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009 | a0001c0001t0002g0168 a0001c0001t0007g0130 a0001c0001t0009g0154 |
3 | 141 | 0.0213 | 11 | c.183 others(30): Show |
CTCF | ENSG00000102974.16 | transcript | ENST00000264010.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CTDSP2_chr12_57814927_57851729 | 57818182 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 HG01934.hp2 HG02004.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(5): Show |
10 | 30 | 0.3333 | 11 | c.*54 others(22): Show |
CTDSP2 | ENSG00000175215.11 | transcript | ENST00000398073.7 | protein_coding | 1744 | chr12 | TogoVar | |||||||
CTDSPL2_chr15_44422629_44534038 | 44444836 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0051 a0001c0001t0010g0052 |
2 | 99 | 0.0202 | 11 | c.-24 others(30): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44506412 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0023 |
2 | 146 | 0.0137 | 11 | c.969 others(28): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44521937 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 1 | 14 | 0.0714 | 11 | c.133 others(28): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |