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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSNK1A1_chr5_149487982_149556439 | 149544737 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 390 | 0.0026 | 36 | c.230 others(53): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64343208 | A | AACACACA others(29): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02132.hp1 NA18974.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0176a0001c0002t0001g0051a0001c0002t0001g0105 | 3 | 176 | 0.0171 | 36 | c.-22 others(57): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58171958 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19056.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0166a0001c0003t0001g0250 | 2 | 400 | 0.0050 | 36 | c.429 others(53): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88449874 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0200 | 1 | 386 | 0.0026 | 36 | c.-27 others(57): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSNKA2IP_chr3_88333456_88472594 | 88449874 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0199 | 1 | 386 | 0.0026 | 36 | c.-27 others(57): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSPP1_chr8_67059392_67201614 | 67159927 | T | TCCTTCCT others(29): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0026 | 1 | 158 | 0.0063 | 36 | c.253 others(53): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67159937 | C | CCTTCTTC others(29): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0113a0002c0002t0002g0132 | 2 | 158 | 0.0127 | 36 | c.253 others(53): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165466966 | C | CATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 NA18992.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0005 | a0001c0001t0022g0078a0001c0002t0005g0068 | 2 | 246 | 0.0081 | 36 | c.-30 others(47): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 2731 | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165477483 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01346.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0006a0001c0002t0012 | a0001c0001t0022g0078a0001c0002t0006g0077a0001c0002t0012g0079 | 3 | 246 | 0.0122 | 36 | c.-28 others(55): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRP3_chr11_19177030_19206983 | 19197501 | C | CTCTTTCG others(29): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 416 | 0.0024 | 36 | c.-29 others(53): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197501 | C | CTCTTTCT others(29): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 416 | 0.0024 | 36 | c.-29 others(53): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CST8_chr20_23486117_23501010 | 23490249 | T | TTTATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0003 | 1 | 440 | 0.0023 | 36 | c.-12 others(47): Show |
CST8 | ENSG00000125815.9 | transcript | ENST00000246012.2 | protein_coding | 867 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23560913 | C | CTCTCTCT others(29): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 392 | 0.0026 | 36 | c.*40 others(47): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3818 | chr20 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47036194 | T | TATATATT others(29): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 224 | 0.0045 | 36 | c.150 others(55): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79691806 | G | GGGGAGGA others(29): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031 | 1 | 378 | 0.0027 | 36 | c.315 others(53): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79711991 | C | CACCCTCC others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(276): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(48): Show | a0001c0001t0001g0084a0001c0001t0002g0001a0001c0001t0002g0002others(273): Show | 279 | 378 | 0.7381 | 36 | c.864 others(51): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDSPL2_chr15_44422629_44534038 | 44506412 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0049 | 1 | 234 | 0.0043 | 36 | c.969 others(53): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730228 | A | AAGTGTGA others(29): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0030a0001c0001t0011g0143 | 2 | 144 | 0.0139 | 36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730319 | G | GGTGTGAG others(29): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0013a0001c0001t0046others(1): Show | a0001c0001t0003g0004a0001c0001t0003g0064a0001c0001t0013g0127others(2): Show | 5 | 144 | 0.0347 | 36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730463 | G | GGTGTGAG others(29): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0008 | a0004c0008t0006 | a0004c0008t0006g0045 | 1 | 144 | 0.0069 | 36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730712 | C | CGCGGTGT others(29): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0015a0001c0001t0053 | a0001c0001t0011g0133a0001c0001t0015g0135a0001c0001t0053g0062 | 3 | 144 | 0.0208 | 36 | c.584 others(55): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138916177 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG02723.hp2 HG06807.hp2 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0093others(1): Show | 4 | 180 | 0.0222 | 36 | c.139 others(55): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79860546 | G | GTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 68 | 0.0147 | 36 | c.465 others(53): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA3_chr10_65907523_67701195 | 66007740 | A | ACCTTCCT others(29): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02145.hp2 HG02280.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0006a0001c0001t0003g0023a0001c0001t0004g0041others(17): Show | 20 | 46 | 0.4348 | 36 | c.216 others(57): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66021852 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 46 | 0.0217 | 36 | c.216 others(57): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66154719 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0045 | 1 | 46 | 0.0217 | 36 | c.188 others(57): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 13/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67025153 | A | AAAGGAAG others(29): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0026 | 1 | 46 | 0.0217 | 36 | c.104 others(59): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67133328 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0019 | 1 | 46 | 0.0217 | 36 | c.104 others(57): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67566041 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0025 | 1 | 46 | 0.0217 | 36 | c.293 others(55): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 3/17 | chr10 | TogoVar | ||||||
CTNNBL1_chr20_37689030_37877118 | 37850569 | T | TTAGCAGT others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(209): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(207): Show | 212 | 266 | 0.7970 | 36 | c.139 others(55): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3641384 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 372 | 0.0027 | 36 | c.61+ others(51): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3656143 | G | GCCCTGCC others(29): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00642.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0002g0100a0001c0001t0005g0040a0001c0001t0005g0073others(14): Show | 19 | 372 | 0.0511 | 36 | c.462 others(51): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3656143 | G | GCCCTGCC others(29): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0147 | 1 | 372 | 0.0027 | 36 | c.462 others(51): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3656157 | T | TTCCACCC others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(161): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0072others(141): Show | 164 | 372 | 0.4409 | 36 | c.462 others(51): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3656173 | C | CCTCACCC others(29): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0233 | 1 | 372 | 0.0027 | 36 | c.462 others(51): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3656181 | C | CCTGCCAT others(29): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0050 | a0001c0001t0043g0053a0001c0001t0050g0056 | 2 | 372 | 0.0054 | 36 | c.462 others(51): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3656345 | A | ACCCTGCC others(29): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 372 | 0.0027 | 36 | c.462 others(51): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTPS2_chrX_16582999_16717669 | 16661993 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 | 1 | 226 | 0.0044 | 36 | c.129 others(55): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | ||||||
CTSC_chr11_88288592_88342736 | 88291569 | T | TGAAAGAA others(29): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 434 | 0.0023 | 36 | c.*24 others(47): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2022 | chr11 | TogoVar | ||||||
CTSL_chr9_87721119_87736469 | 87734902 | T | TGTAACCT others(29): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 388 | 0.0026 | 36 | c.*37 others(47): Show |
CTSL | ENSG00000135047.16 | transcript | ENST00000343150.10 | protein_coding | 3434 | chr9 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744199 | G | GTATATTA others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 344 | 0.0029 | 36 | c.896 others(53): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744433 | T | TTTATATA others(29): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 344 | 0.0029 | 36 | c.896 others(53): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150765696 | A | ACGTGATA others(29): Show |
splice_donor_variant others(1): Show |
HIGH | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0213 | 1 | 344 | 0.0029 | 36 | c.-36 others(44): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113260203 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02155.hp2 HG02698.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0231a0002c0002t0001g0057a0002c0002t0001g0070 | 3 | 396 | 0.0076 | 36 | c.203 others(53): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111326120 | G | GTTTTGTT others(29): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 100 | 0.0100 | 36 | c.292 others(55): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111328972 | T | TCTCTCTC others(29): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0091a0001c0004t0001g0002 | 2 | 100 | 0.0200 | 36 | c.292 others(55): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111330702 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 100 | 0.0100 | 36 | c.292 others(55): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111330704 | T | TATATACA others(29): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 100 | 0.0100 | 36 | c.292 others(55): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CWC27_chr5_64763930_65023750 | 64799602 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 | 1 | 260 | 0.0039 | 36 | c.670 others(51): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 7/13 | chr5 | TogoVar | ||||||
CWF19L2_chr11_107321360_107462825 | 107402871 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG02027.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0002 | a0001c0001t0001g0252a0004c0004t0002g0336a0004c0004t0002g0339 | 3 | 392 | 0.0077 | 36 | c.161 others(55): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 10/17 | chr11 | TogoVar |