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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSRNP3_chr2_165464698_165694407 | 165480782 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0008others(73): Show | 76 | 246 | 0.3089 | 9 | c.-28 others(30): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CST9L_chr20_23559732_23573484 | 23570011 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00735.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0004 | a0001c0001t0001g0002a0002c0002t0001g0001a0002c0002t0001g0016others(5): Show | 26 | 392 | 0.0663 | 9 | c.-15 others(20): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 1528 | chr20 | TogoVar | ||||||
CSTF1_chr20_56387645_56411362 | 56404812 | A | ATTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02809.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0023a0001c0001t0076 | a0001c0001t0019g0009a0001c0001t0019g0032a0001c0001t0023g0005others(2): Show | 7 | 422 | 0.0166 | 9 | c.*11 others(20): Show |
CSTF1 | ENSG00000101138.12 | transcript | ENST00000217109.9 | protein_coding | 6/6 | 1112 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
CSTF3_chr11_33079584_33166480 | 33150034 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | NA18965.hp2 NA18966.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0044a0001c0001t0002g0076 | 4 | 360 | 0.0111 | 9 | c.28- others(24): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
CSTL1_chr20_23434685_23449930 | 23438628 | A | AGGAGGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0016others(25): Show | 187 | 452 | 0.4137 | 9 | c.-13 others(20): Show |
CSTL1 | ENSG00000125823.13 | transcript | ENST00000347397.5 | protein_coding | 1056 | chr20 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47036092 | T | TAATATAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01358.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(6): Show | 9 | 224 | 0.0402 | 9 | c.150 others(28): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47101164 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01192.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0047a0001c0001t0001g0073a0001c0001t0001g0083others(13): Show | 16 | 224 | 0.0714 | 9 | c.281 others(28): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47110890 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02080.hp1 NA18947.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0049others(4): Show | 7 | 224 | 0.0313 | 9 | c.281 others(28): 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(2): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02698.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0117others(2): Show | 5 | 224 | 0.0223 | 9 | c.281 others(28): 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(2): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18947.hp2 NA19011.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0124a0001c0001t0001g0137others(2): Show | 5 | 224 | 0.0223 | 9 | c.281 others(28): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | chr11 | TogoVar | ||||||
CT45A3_chrX_135755044_135773191 | 135759430 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 160 | 0.0063 | 9 | c.*92 others(18): Show |
CT45A3 | ENSG00000269096.7 | transcript | ENST00000598716.3 | protein_coding | 613 | chrX | TogoVar | ||||||
CT45A7_chrX_135824229_135842280 | 135838419 | A | AAAAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0019 | 1 | 19 | 0.0526 | 9 | c.-13 others(20): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1140 | chrX | TogoVar | ||||||
CTAG1A_chrX_154580133_154591816 | 154581768 | G | GAAACTGG others(2): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0030 | 1 | 293 | 0.0034 | 9 | c.-34 others(20): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 3364 | chrX | TogoVar | ||||||
CTBP2_chr10_124979317_125033071 | 124996048 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01175.hp2 others(10): Show |
a0003a0004a0007others(1): Show | a0003c0004a0004c0008a0004c0040others(3): Show | a0003c0004t0082a0004c0008t0004a0004c0008t0007others(8): Show | a0003c0004t0082g0250a0004c0008t0004g0343a0004c0008t0004g0345others(9): Show | 13 | 380 | 0.0342 | 9 | c.218 others(28): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 4/8 | chr10 | TogoVar | ||||||
CTBS_chr1_84544611_84579440 | 84574315 | C | CGCAGCGC others(2): Show |
conservative_inframe_insertion | MODERATE | HG00642.hp1 HG01099.hp1 HG02257.hp1 others(5): Show |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0019 | a0004c0006t0001g0012a0004c0006t0001g0103a0004c0006t0001g0104others(1): Show | 8 | 340 | 0.0235 | 9 | c.92_ others(15): Show |
p.Leu others(11): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 1/7 | 125/6571 | 100/1158 | 34/385 | chr1 | TogoVar | ||
CTBS_chr1_84544611_84579440 | 84574515 | G | GGGGAGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0033a0001c0001t0001g0069a0001c0002t0002g0008others(6): Show | 16 | 340 | 0.0471 | 9 | c.-10 others(18): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 76 | chr1 | TogoVar | ||||||
CTC1_chr17_8219815_8253056 | 8248410 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01891.hp2 others(14): Show |
a0001a0006 | a0001c0002a0006c0007 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0029a0001c0002t0001g0130a0001c0002t0001g0139others(14): Show | 17 | 402 | 0.0423 | 9 | c.-38 others(18): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 355 | chr17 | TogoVar | ||||||
CTCF_chr16_67557526_67644177 | 67608018 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02027.hp1 HG02055.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0146a0001c0001t0002g0147a0001c0001t0002g0148others(17): Show | 20 | 168 | 0.1191 | 9 | c.-9- others(24): Show |
CTCF | ENSG00000102974.16 | transcript | ENST00000264010.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CTDSP2_chr12_57814927_57851729 | 57818182 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00673.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0019 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0021others(16): Show | 23 | 346 | 0.0665 | 9 | c.*54 others(20): Show |
CTDSP2 | ENSG00000175215.11 | transcript | ENST00000398073.7 | protein_coding | 1744 | chr12 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44439121 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009a0001c0001t0003g0019 | 2 | 234 | 0.0086 | 9 | c.-25 others(28): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTDSPL_chr3_37856880_37989469 | 37939925 | C | CTACTAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01169.hp2 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018a0001c0001t0019 | a0001c0001t0007g0064a0001c0001t0007g0065a0001c0001t0007g0066others(3): Show | 6 | 166 | 0.0361 | 9 | c.80- others(24): Show |
CTDSPL | ENSG00000144677.15 | transcript | ENST00000273179.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CTDSPL_chr3_37856880_37989469 | 37948814 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01099.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0042others(12): Show | 15 | 166 | 0.0904 | 9 | c.234 others(26): Show |
CTDSPL | ENSG00000144677.15 | transcript | ENST00000273179.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CTHRC1_chr8_103366538_103387989 | 103387256 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 NA18966.hp1 NA18989.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0017 | 6 | 408 | 0.0147 | 9 | c.*46 others(20): Show |
CTHRC1 | ENSG00000164932.13 | transcript | ENST00000330295.10 | protein_coding | 4268 | chr8 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48554980 | A | AAGTATTC others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG01952.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0036a0001c0001t0001g0066a0001c0001t0001g0071others(18): Show | 21 | 144 | 0.1458 | 9 | c.-29 others(28): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48645278 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp2 others(30): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0089others(30): Show | 33 | 144 | 0.2292 | 9 | c.252 others(26): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48832173 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(28): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0025a0001c0001t0003g0004a0001c0001t0003g0013others(28): Show | 31 | 144 | 0.2153 | 9 | c.152 others(30): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTLA4_chr2_203862771_203878965 | 203878725 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0007g0003a0001c0001t0008g0003a0001c0001t0010g0003others(3): Show | 9 | 420 | 0.0214 | 9 | c.*59 others(20): Show |
CTLA4 | ENSG00000163599.18 | transcript | ENST00000648405.2 | protein_coding | 4761 | chr2 | TogoVar | ||||||
CTNNA1_chr5_138748425_138940034 | 138823956 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02735.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0061a0001c0002t0002g0065a0001c0002t0002g0070others(4): Show | 7 | 180 | 0.0389 | 9 | c.589 others(24): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138916177 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(27): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0002 | a0001c0002t0002g0003a0001c0002t0002g0035a0001c0002t0002g0053others(27): Show | 30 | 180 | 0.1667 | 9 | c.139 others(28): 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(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02886.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0002a0001c0009a0001c0012 | a0001c0002t0002a0001c0009t0001a0001c0012t0002 | a0001c0002t0002g0015a0001c0002t0002g0065a0001c0009t0001g0003others(1): Show | 4 | 68 | 0.0588 | 9 | c.465 others(26): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79894063 | T | TTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0007t0001 | a0001c0004t0001g0059a0001c0007t0001g0068 | 2 | 68 | 0.0294 | 9 | c.853 others(28): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79982358 | C | CTATATAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01106.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0028others(16): Show | 19 | 68 | 0.2794 | 9 | c.105 others(30): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80355933 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0001a0001c0003t0005a0001c0007t0001others(2): Show | a0001c0002t0001g0023a0001c0003t0005g0017a0001c0007t0001g0068others(2): Show | 5 | 68 | 0.0735 | 9 | c.105 others(30): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80376647 | T | TTAGAAAA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0054a0001c0003t0001g0026 | 2 | 68 | 0.0294 | 9 | c.105 others(30): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | chr2 | TogoVar | ||||||
CTNNA2_chr2_79508051_80653780 | 80601417 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00673.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(3): Show | a0001c0001t0002g0027a0001c0001t0002g0029a0001c0001t0002g0041others(10): Show | 13 | 68 | 0.1912 | 9 | c.219 others(28): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA3_chr10_65907523_67701195 | 66015105 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG02922.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0016others(5): Show | a0001c0001t0003g0023a0001c0001t0005g0010a0001c0001t0016g0003others(5): Show | 8 | 46 | 0.1739 | 9 | c.216 others(30): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66547343 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG02145.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0015a0001c0001t0002g0009a0001c0001t0004g0043others(11): Show | 14 | 46 | 0.3044 | 9 | c.137 others(30): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 10/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66702732 | A | AAGTAGTA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02145.hp2 HG02280.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0006a0001c0001t0002g0009a0001c0001t0002g0024others(8): Show | 11 | 46 | 0.2391 | 9 | c.128 others(30): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 9/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66829854 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02818.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0020a0001c0003t0008a0001c0004t0001others(2): Show | a0001c0001t0020g0030a0001c0003t0008g0002a0001c0004t0001g0018others(2): Show | 5 | 46 | 0.1087 | 9 | c.104 others(30): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNND1_chr11_57756802_57824540 | 57771422 | T | TTATATAG others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(95): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(88): Show | 98 | 288 | 0.3403 | 9 | c.-21 others(28): Show |
CTNND1 | ENSG00000198561.16 | transcript | ENST00000399050.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CTNND2_chr5_10966836_11909446 | 11262761 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0003g0026a0001c0002t0001g0013 | 3 | 26 | 0.1154 | 9 | c.162 others(30): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 9/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11816691 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0009t0001 | a0001c0001t0003g0026a0001c0009t0001g0008 | 2 | 26 | 0.0769 | 9 | c.38- others(26): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11865908 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0003g0026 | 3 | 26 | 0.1154 | 9 | c.37+ others(26): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16621446 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02922.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0073 | 3 | 226 | 0.0133 | 9 | c.139 others(28): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16639777 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02559.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0006a0001c0001t0002g0126a0001c0001t0005g0067 | 3 | 226 | 0.0133 | 9 | c.129 others(26): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16647255 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 226 | 0.0044 | 9 | c.129 others(28): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16658241 | C | CAAGAAAC others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0150 | 2 | 226 | 0.0089 | 9 | c.129 others(28): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | ||||||
CTR9_chr11_10746246_10784746 | 10747340 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(53): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0035others(29): Show | 56 | 406 | 0.1379 | 9 | c.-40 others(20): Show |
CTR9 | ENSG00000198730.9 | transcript | ENST00000361367.7 | protein_coding | 3905 | chr11 | TogoVar | ||||||
CTSA_chr20_45886335_45903820 | 45901947 | G | GCCTCAAG others(2): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0025 | 3 | 430 | 0.0070 | 9 | c.*34 others(20): Show |
CTSA | ENSG00000064601.21 | transcript | ENST00000646241.3 | protein_coding | 3128 | chr20 | TogoVar | ||||||
CTSC_chr11_88288592_88342736 | 88291563 | G | GATGAAAG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0013others(29): Show | 39 | 434 | 0.0899 | 9 | c.*24 others(20): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2028 | chr11 | TogoVar |