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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1QTNF1_chr17_79019169_79054788 | 79030485 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03139.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0012a0001c0006t0011 | a0001c0001t0001g0033a0001c0001t0001g0123a0001c0001t0001g0164others(4): Show | 8 | 392 | 0.0204 | 20 | c.-15 others(37): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
C1QTNF4_chr11_47584667_47599411 | 47594457 | G | GAGGGGCG others(13): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | 20 | c.-31 others(29): Show |
C1QTNF4 | ENSG00000172247.4 | transcript | ENST00000302514.4 | protein_coding | 47 | chr11 | TogoVar | ||||||
C1QTNF6_chr22_37175166_37193247 | 37188283 | A | AGGAGGGA others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01175.hp1 HG01496.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0031 | a0003c0003t0001g0003a0003c0003t0001g0102a0003c0003t0031g0105 | 9 | 446 | 0.0202 | 20 | c.-90 others(27): Show |
C1QTNF6 | ENSG00000133466.14 | transcript | ENST00000337843.7 | protein_coding | 37 | chr22 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24309283 | T | TTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 HG06807.hp1 NA18960.hp1 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0010 | a0001c0001t0001a0003c0003t0001a0005c0010t0002 | a0001c0001t0001g0017a0003c0003t0001g0026a0003c0003t0001g0038others(1): Show | 5 | 466 | 0.0107 | 20 | c.-35 others(29): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 296 | chr13 | TogoVar | ||||||
C1RL_chr12_7089554_7114214 | 7099225 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0198a0001c0001t0013g0226 | 2 | 438 | 0.0046 | 20 | c.691 others(35): Show |
C1RL | ENSG00000139178.12 | transcript | ENST00000266542.9 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
C1S_chr12_7055718_7076032 | 7064030 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 NA19076.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0034a0001c0010t0001g0063a0001c0010t0001g0066 | 3 | 370 | 0.0081 | 20 | c.392 others(35): Show |
C1S | ENSG00000182326.17 | transcript | ENST00000360817.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C1orf100_chr1_244347635_244394663 | 244394244 | T | TTTTTTAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00673.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0029others(14): Show | 17 | 452 | 0.0376 | 20 | c.*51 others(31): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 4582 | chr1 | TogoVar | ||||||
C1orf105_chr1_172415685_172473829 | 172469593 | C | CAAATAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107a0002c0002t0001g0131 | 2 | 320 | 0.0063 | 20 | c.*99 others(30): Show |
C1orf105 | ENSG00000180999.11 | transcript | ENST00000367727.9 | protein_coding | 765 | chr1 | TogoVar | ||||||
C1orf109_chr1_37676570_37695529 | 37679973 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 432 | 0.0023 | 20 | c.*31 others(31): Show |
C1orf109 | ENSG00000116922.15 | transcript | ENST00000486637.2 | protein_coding | 1596 | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10951745 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0101 | 1 | 392 | 0.0026 | 20 | c.110 others(39): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 10/12 | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10986123 | G | GCACACAC others(13): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00735.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0080others(33): Show | 36 | 392 | 0.0918 | 20 | c.-40 others(31): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 4048 | chr1 | TogoVar | ||||||
C1orf198_chr1_230832119_230873521 | 230836212 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG03942.hp2 NA18942.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021a0001c0001t0022 | a0001c0001t0006g0219a0001c0001t0006g0220a0001c0001t0006g0223others(6): Show | 9 | 428 | 0.0210 | 20 | c.*36 others(31): Show |
C1orf198 | ENSG00000119280.17 | transcript | ENST00000366663.10 | protein_coding | 906 | chr1 | TogoVar | ||||||
C1orf198_chr1_230832119_230873521 | 230836212 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055 | 1 | 428 | 0.0023 | 20 | c.*36 others(31): Show |
C1orf198 | ENSG00000119280.17 | transcript | ENST00000366663.10 | protein_coding | 906 | chr1 | TogoVar | ||||||
C1orf202_chr1_244724701_244736015 | 244733250 | G | GCAGCCCA others(13): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG03540.hp2 |
a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0000 | 2 | 418 | 0.0048 | 20 | c.-23 others(31): Show |
C1orf202 | ENSG00000284188.3 | transcript | ENST00000640271.3 | protein_coding | 2236 | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184386789 | C | CCACACAC others(13): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 232 | 0.0043 | 20 | c.-70 others(29): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 239 | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184559505 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0172 | 1 | 232 | 0.0043 | 20 | c.190 others(39): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf21_chr1_184382029_184634019 | 184559513 | T | TCCTTCCT others(13): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0097 | 1 | 232 | 0.0043 | 20 | c.190 others(39): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf21_chr1_184382029_184634019 | 184630308 | T | TCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0212 | 1 | 232 | 0.0043 | 20 | c.*10 others(33): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 1290 | chr1 | TogoVar | ||||||
C1orf54_chr1_150267790_150285916 | 150284002 | C | CTTTATTA others(13): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03453.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 3 | 434 | 0.0069 | 20 | c.*31 others(31): Show |
C1orf54 | ENSG00000118292.9 | transcript | ENST00000369099.8 | protein_coding | 3087 | chr1 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32661611 | T | TGAGCAGG others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0004 | a0002c0004t0015 | a0002c0004t0015g0178 | 1 | 360 | 0.0028 | 20 | c.-26 others(39): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01361.hp2 HG02027.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0024others(1): Show | a0001c0001t0003g0284a0001c0001t0003g0302a0001c0001t0003g0303others(3): Show | 6 | 360 | 0.0167 | 20 | c.-26 others(39): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 360 | 0.0028 | 20 | c.-26 others(39): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | ||||||
C20orf204_chr20_64031182_64044001 | 64042771 | G | GGGGGTCG others(13): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02451.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0002g0002others(2): Show | 10 | 392 | 0.0255 | 20 | c.*40 others(31): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3771 | chr20 | TogoVar | ||||||
C20orf204_chr20_64031182_64044001 | 64042803 | G | GGACGGGG others(13): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG03471.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 392 | 0.0077 | 20 | c.*40 others(31): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3803 | chr20 | TogoVar | ||||||
C20orf204_chr20_64031182_64044001 | 64042833 | G | GGGGGTCG others(13): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | 20 | c.*40 others(31): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3833 | chr20 | TogoVar | ||||||
C20orf204_chr20_64031182_64044001 | 64042873 | G | GCGGGGTC others(13): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01255.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0005 | 4 | 392 | 0.0102 | 20 | c.*41 others(31): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3873 | chr20 | TogoVar | ||||||
C20orf204_chr20_64031182_64044001 | 64042894 | G | GCGGGGTC others(13): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | 20 | c.*41 others(31): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3894 | chr20 | TogoVar | ||||||
C20orf204_chr20_64031182_64044001 | 64042917 | G | GGGGGTCG others(13): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 2 | 392 | 0.0051 | 20 | c.*41 others(31): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3917 | chr20 | TogoVar | ||||||
C20orf204_chr20_64031182_64044001 | 64042958 | G | GGGGGTCG others(13): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02976.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0013 | 5 | 392 | 0.0128 | 20 | c.*41 others(31): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3958 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 273903 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18962.hp2 NA18995.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0002c0002t0001a0002c0012t0001 | a0001c0001t0001g0228a0002c0002t0001g0175a0002c0012t0001g0111 | 3 | 410 | 0.0073 | 20 | c.103 others(39): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 273903 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02970.hp1 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047a0002c0002t0001g0173a0002c0002t0001g0246 | 3 | 410 | 0.0073 | 20 | c.103 others(39): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 278930 | C | CGGAGGGA others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0125 | 1 | 410 | 0.0024 | 20 | c.465 others(35): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279082 | C | CGGAGGGC others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03130.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0240a0001c0001t0005g0019a0001c0001t0007g0036 | 3 | 410 | 0.0073 | 20 | c.465 others(33): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46298434 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(30): Show |
a0001a0011 | a0001c0001a0001c0012a0011c0014 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0306a0001c0001t0001g0307others(27): Show | 33 | 378 | 0.0873 | 20 | c.*35 others(31): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 2695 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46303745 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 378 | 0.0027 | 20 | c.722 others(37): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46311982 | T | TCCACCCA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0082a0001c0001t0003g0096others(4): Show | 10 | 378 | 0.0265 | 20 | c.610 others(35): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 5/7 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32809275 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01255.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0160a0001c0001t0001g0164others(7): Show | 10 | 303 | 0.0330 | 20 | c.-14 others(39): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32809275 | C | CCCTCCTT others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0004 | a0003c0004t0018 | a0003c0004t0018g0147 | 1 | 303 | 0.0033 | 20 | c.-14 others(39): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32809279 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 303 | 0.0033 | 20 | c.-14 others(39): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32809279 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0067 | 1 | 303 | 0.0033 | 20 | c.-14 others(39): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
C21orf91_chr21_17783974_17824356 | 17789253 | T | TAACACAC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0038 | 2 | 414 | 0.0048 | 20 | c.*41 others(31): Show |
C21orf91 | ENSG00000154642.11 | transcript | ENST00000284881.9 | protein_coding | 5/5 | 4161 | chr21 | TogoVar | |||||
C2CD2_chr21_41880112_41959018 | 41908243 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0131a0001c0001t0002g0316a0001c0001t0004g0197others(5): Show | 8 | 396 | 0.0202 | 20 | c.101 others(37): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCC others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0007 | a0007c0043 | a0007c0043t0041 | a0007c0043t0041g0012 | 1 | 396 | 0.0025 | 20 | c.280 others(37): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0061 | 1 | 396 | 0.0025 | 20 | c.280 others(37): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 HG03041.hp2 others(2): Show |
a0001a0002a0003 | a0001c0021a0002c0008a0003c0017others(2): Show | a0001c0021t0005a0002c0008t0005a0003c0017t0005others(2): Show | a0001c0021t0005g0235a0002c0008t0005g0260a0003c0017t0005g0238others(2): Show | 5 | 396 | 0.0126 | 20 | c.280 others(37): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00738.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(8): Show | a0001c0001t0003g0176a0001c0001t0007g0174a0001c0002t0001g0175others(9): Show | 12 | 396 | 0.0303 | 20 | c.280 others(37): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74107322 | T | TCTCACAC others(13): Show |
intron_variant | MODIFIER | HG04228.hp2 NA18984.hp2 NA18999.hp2 others(2): Show |
a0009a0022 | a0009c0010a0022c0035 | a0009c0010t0001a0022c0035t0001 | a0009c0010t0001g0304a0009c0010t0001g0306a0009c0010t0001g0307others(2): Show | 5 | 318 | 0.0157 | 20 | c.196 others(37): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 12/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74110082 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0007 | a0007c0026 | a0007c0026t0001 | a0007c0026t0001g0005 | 1 | 318 | 0.0031 | 20 | c.184 others(37): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 11/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74116836 | A | ATATATAC others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0032 | a0032c0024 | a0032c0024t0001 | a0032c0024t0001g0200 | 1 | 318 | 0.0031 | 20 | c.152 others(39): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74116917 | T | TACATATA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0132 | 1 | 318 | 0.0031 | 20 | c.152 others(39): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar |