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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTNNA3_chr10_65907523_67701195 | 67114709 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0008 | a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0003t0008g0002 |
3 | 46 | 0.0652 | 8 | c.104 others(29): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67133366 | C | CATACATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG02818.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0002g0009 a0001c0001t0005g0010 a0001c0001t0012g0038 others(6): Show |
9 | 46 | 0.1957 | 8 | c.104 others(29): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67430820 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02622.hp1 HG02647.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0015 a0001c0001t0004g0043 a0001c0001t0007g0020 others(6): Show |
9 | 46 | 0.1957 | 8 | c.579 others(27): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67452061 | T | TGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 HG03579.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0020a0001c0004t0001others(2): Show | a0001c0001t0004g0043 a0001c0001t0020g0030 a0001c0004t0001g0018 others(2): Show |
5 | 46 | 0.1087 | 8 | c.579 others(27): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67564677 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02965.hp1 |
a0002a0004 | a0002c0002a0004c0010 | a0002c0002t0001a0004c0010t0002 | a0002c0002t0001g0035 a0004c0010t0002g0021 |
2 | 46 | 0.0435 | 8 | c.293 others(27): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 3/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67632126 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03130.hp2 NA18612.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0009 | a0001c0001t0004a0002c0002t0003a0002c0002t0026others(1): Show | a0001c0001t0004g0043 a0002c0002t0003g0042 a0002c0002t0026g0046 others(1): Show |
4 | 46 | 0.0870 | 8 | c.99+ others(25): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 2/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67647146 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02895.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0010 | a0001c0001t0001g0015 a0001c0005t0010g0034 |
2 | 46 | 0.0435 | 8 | c.99+ others(21): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 2/17 | chr10 | TogoVar | |||||||
CTNNAL1_chr9_108937577_109018499 | 108964842 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01256.hp2 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0110 a0001c0001t0001g0132 others(21): Show |
26 | 420 | 0.0619 | 8 | c.159 others(25): Show |
CTNNAL1 | ENSG00000119326.15 | transcript | ENST00000325551.9 | protein_coding | 11/18 | chr9 | TogoVar | |||||||
CTNNB1_chr3_41194505_41245443 | 41197903 | T | TGTACAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(24): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0011 others(87): Show |
99 | 342 | 0.2895 | 8 | c.-18 others(19): Show |
CTNNB1 | ENSG00000168036.18 | transcript | ENST00000349496.11 | protein_coding | 1601 | chr3 | TogoVar | |||||||
CTNNB1_chr3_41194505_41245443 | 41229876 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0002t0002g0079 others(3): Show |
6 | 342 | 0.0175 | 8 | c.108 others(27): Show |
CTNNB1 | ENSG00000168036.18 | transcript | ENST00000349496.11 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CTNNBIP1_chr1_9843276_9915269 | 9876845 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01256.hp2 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0234 a0001c0001t0003g0245 a0001c0001t0003g0254 others(5): Show |
9 | 310 | 0.0290 | 8 | c.-25 others(25): Show |
CTNNBIP1 | ENSG00000178585.15 | transcript | ENST00000377263.6 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
CTNNBL1_chr20_37689030_37877118 | 37747080 | T | TACATTTC others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02293.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 |
3 | 266 | 0.0113 | 8 | c.466 others(23): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CTNNBL1_chr20_37689030_37877118 | 37815076 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(85): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(84): Show |
88 | 266 | 0.3308 | 8 | c.121 others(29): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11435115 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(2): Show |
5 | 26 | 0.1923 | 8 | c.288 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11470954 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0024 |
2 | 26 | 0.0769 | 8 | c.288 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11578669 | G | GAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp2 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0008 | a0001c0001t0001a0001c0009t0001a0002c0008t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0009t0001g0008 others(1): Show |
4 | 26 | 0.1539 | 8 | c.175 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11585484 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(6): Show |
9 | 26 | 0.3462 | 8 | c.175 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11625389 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0011 |
2 | 26 | 0.0769 | 8 | c.175 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11839784 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0018 |
2 | 26 | 0.0769 | 8 | c.37+ others(25): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11842720 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0003a0001c0002t0001a0001c0009t0001 | a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0009t0001g0008 |
3 | 26 | 0.1154 | 8 | c.37+ others(25): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
CTNS_chr17_3631760_3668103 | 3635198 | G | GAAGGAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01071.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0126 a0001c0001t0002g0089 a0001c0001t0002g0100 others(41): Show |
49 | 372 | 0.1317 | 8 | c.-18 others(19): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 1561 | chr17 | TogoVar | |||||||
CTNS_chr17_3631760_3668103 | 3642041 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0021a0001c0003t0003a0001c0004t0008others(6): Show | a0001c0001t0021g0252 a0001c0003t0003g0202 a0001c0003t0003g0255 others(13): Show |
19 | 372 | 0.0511 | 8 | c.61+ others(23): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3642064 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(12): Show | a0001c0001t0002g0075 a0001c0001t0002g0096 a0001c0001t0002g0097 others(18): Show |
21 | 372 | 0.0565 | 8 | c.61+ others(23): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3651973 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01358.hp2 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0168 others(4): Show |
7 | 372 | 0.0188 | 8 | c.226 others(25): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16603416 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00642.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0022 others(65): Show |
68 | 226 | 0.3009 | 8 | c.169 others(27): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16603430 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0011 | a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0021 others(24): Show |
27 | 226 | 0.1195 | 8 | c.169 others(27): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16639777 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG01070.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0050 others(28): Show |
31 | 226 | 0.1372 | 8 | c.129 others(25): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16647255 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 226 | 0.0044 | 8 | c.129 others(27): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16668770 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01070.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(16): Show |
19 | 226 | 0.0841 | 8 | c.119 others(27): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16672881 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 226 | 0.0044 | 8 | c.109 others(27): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | TogoVar | |||||||
CTSC_chr11_88288592_88342736 | 88291569 | T | TGAAAGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0066 others(8): Show |
15 | 434 | 0.0346 | 8 | c.*24 others(19): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2022 | chr11 | TogoVar | |||||||
CTSC_chr11_88288592_88342736 | 88301808 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18955.hp2 NA18979.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0187 a0001c0001t0001g0196 others(1): Show |
7 | 434 | 0.0161 | 8 | c.642 others(25): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
CTSC_chr11_88288592_88342736 | 88316475 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02698.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0118 others(4): Show |
7 | 434 | 0.0161 | 8 | c.319 others(25): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
CTSC_chr11_88288592_88342736 | 88317434 | T | TTAGTCTT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02886.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312 |
5 | 434 | 0.0115 | 8 | c.319 others(25): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
CTSD_chr11_1747755_1768927 | 1759725 | C | CAAGCCCT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(23): Show |
a0001a0002 | a0001c0004a0001c0005a0002c0003 | a0001c0004t0002a0001c0005t0002a0001c0005t0014others(3): Show | a0001c0004t0002g0009 a0001c0004t0002g0187 a0001c0005t0002g0063 others(12): Show |
26 | 386 | 0.0674 | 8 | c.229 others(21): Show |
CTSD | ENSG00000117984.15 | transcript | ENST00000236671.7 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
CTSK_chr1_150791208_150813260 | 150811458 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01074.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0037 others(11): Show |
31 | 392 | 0.0791 | 8 | c.-32 others(19): Show |
CTSK | ENSG00000143387.14 | transcript | ENST00000271651.8 | protein_coding | 3199 | chr1 | TogoVar | |||||||
CTSL_chr9_87721119_87736469 | 87727041 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG01361.hp1 others(29): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0005c0006t0001 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0026 others(4): Show |
32 | 388 | 0.0825 | 8 | c.-10 others(23): Show |
CTSL | ENSG00000135047.16 | transcript | ENST00000343150.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CTSV_chr9_97024677_97044142 | 97039814 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 a0001c0001t0005g0072 |
9 | 410 | 0.0220 | 8 | c.-76 others(17): Show |
CTSV | ENSG00000136943.12 | transcript | ENST00000259470.6 | protein_coding | 673 | chr9 | TogoVar | |||||||
CTTNBP2NL_chr1_112391214_112466164 | 112391990 | C | CAATAAAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0009a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0009t0012others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0174 a0001c0001t0001g0202 others(9): Show |
12 | 324 | 0.0370 | 8 | c.-44 others(19): Show |
CTTNBP2NL | ENSG00000143079.15 | transcript | ENST00000271277.11 | protein_coding | 4223 | chr1 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117768581 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp1 others(77): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0015a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
80 | 164 | 0.4878 | 8 | c.277 others(27): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 8/22 | chr7 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117773648 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02040.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0126 a0001c0001t0002g0028 a0001c0001t0005g0049 |
3 | 164 | 0.0183 | 8 | c.277 others(27): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 8/22 | chr7 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117871844 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp1 HG01361.hp1 others(10): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(10): Show |
13 | 164 | 0.0793 | 8 | c.81+ others(23): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117874981 | C | CTTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00609.hp2 others(52): Show |
a0001a0004a0005 | a0001c0001a0001c0007a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(52): Show |
55 | 164 | 0.3354 | 8 | c.-15 others(19): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 1541 | chr7 | TogoVar | |||||||
CTXND1_chr15_80190481_80257213 | 80204647 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02027.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0028a0001c0002t0010 | a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0174 others(5): Show |
8 | 396 | 0.0202 | 8 | c.-21 others(25): Show |
CTXND1 | ENSG00000259417.3 | transcript | ENST00000560778.3 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CTXND1_chr15_80190481_80257213 | 80217521 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01257.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0003g0277 a0001c0001t0006g0267 a0001c0001t0006g0334 others(12): Show |
17 | 396 | 0.0429 | 8 | c.-21 others(29): Show |
CTXND1 | ENSG00000259417.3 | transcript | ENST00000560778.3 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CTXND1_chr15_80190481_80257213 | 80228636 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(173): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0022 others(168): Show |
176 | 396 | 0.4444 | 8 | c.-21 others(29): Show |
CTXND1 | ENSG00000259417.3 | transcript | ENST00000560778.3 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CTXND2_chr1_150882136_150918292 | 150885858 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0090 others(5): Show |
8 | 372 | 0.0215 | 8 | c.-15 others(19): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 1277 | chr1 | TogoVar | |||||||
CTXND2_chr1_150882136_150918292 | 150886473 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG01928.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(34): Show |
38 | 372 | 0.1022 | 8 | c.-91 others(17): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 662 | chr1 | TogoVar | |||||||
CUBN_chr10_16818966_17134811 | 16825628 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02622.hp2 others(7): Show |
a0003a0007a0011others(6): Show | a0003c0013a0007c0100a0011c0008others(7): Show | a0003c0013t0001a0007c0100t0011a0011c0008t0001others(7): Show | a0003c0013t0001g0056 a0007c0100t0011g0164 a0011c0008t0001g0144 others(7): Show |
10 | 192 | 0.0521 | 8 | c.107 others(27): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 66/66 | chr10 | TogoVar | |||||||
CUBN_chr10_16818966_17134811 | 16862160 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01975.hp2 others(9): Show |
a0002a0003a0009others(7): Show | a0002c0017a0003c0011a0003c0012others(8): Show | a0002c0017t0001a0003c0011t0002a0003c0012t0001others(8): Show | a0002c0017t0001g0077 a0003c0011t0002g0088 a0003c0012t0001g0165 others(9): Show |
12 | 192 | 0.0625 | 8 | c.945 others(27): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 59/66 | chr10 | TogoVar |