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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEACAM1_chr19_42502306_42533481 | 42513915 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0187a0002c0003t0002g0191 | 2 | 290 | 0.0069 | 18 | c.124 others(37): Show |
CEACAM1 | ENSG00000079385.23 | transcript | ENST00000161559.11 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44510611 | A | AGAAAGAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0023 | a0023c0029 | a0023c0029t0001 | a0023c0029t0001g0121 | 1 | 438 | 0.0023 | 18 | c.173 others(35): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44518083 | A | AAAGAAAG others(11): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 438 | 0.0023 | 18 | c.103 others(35): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
CEACAM7_chr19_41668303_41693270 | 41678310 | C | CATGTATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0123a0001c0001t0002g0176a0001c0001t0005g0136others(1): Show | 4 | 412 | 0.0097 | 18 | c.707 others(33): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42581910 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 314 | 0.0032 | 18 | c.*41 others(33): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42581918 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 314 | 0.0032 | 18 | c.*41 others(33): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37193597 | A | AAAGAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01106.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0058others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0010g0001others(4): Show | 10 | 466 | 0.0215 | 18 | c.-29 others(29): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2898 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37193608 | A | AGAAGAAG others(11): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0003 | 1 | 466 | 0.0022 | 18 | c.-29 others(29): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2887 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37193643 | A | AAGAAGAA others(11): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 2 | 466 | 0.0043 | 18 | c.-28 others(29): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2852 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37205273 | A | ACGCACAC others(11): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 466 | 0.0022 | 18 | c.*34 others(29): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 531 | chr2 | TogoVar | ||||||
CEBPZ_chr2_37196612_37236596 | 37205273 | A | ACGCACAC others(11): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0192 | 1 | 438 | 0.0023 | 18 | c.288 others(37): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17404364 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0255 | 1 | 324 | 0.0031 | 18 | c.126 others(37): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17413663 | G | GATTATTA others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0007 | 1 | 324 | 0.0031 | 18 | c.126 others(37): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17428798 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0023a0001c0001t0001g0035a0001c0001t0001g0046others(19): Show | 22 | 324 | 0.0679 | 18 | c.127 others(37): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17428826 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0098 | 1 | 324 | 0.0031 | 18 | c.127 others(37): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17480419 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0076a0002c0002t0003 | a0001c0001t0076g0287a0002c0002t0003g0077 | 2 | 324 | 0.0062 | 18 | c.221 others(35): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17480459 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 324 | 0.0031 | 18 | c.221 others(35): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17481045 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0318 | 1 | 324 | 0.0031 | 18 | c.221 others(35): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17481046 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01256.hp2 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0046others(2): Show | a0001c0001t0002g0242a0001c0001t0005g0222a0001c0001t0005g0241others(3): Show | 6 | 324 | 0.0185 | 18 | c.221 others(35): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17481047 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0083 | a0001c0001t0003g0291a0001c0008t0083g0047 | 2 | 324 | 0.0062 | 18 | c.221 others(35): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17524387 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0214 | 1 | 324 | 0.0031 | 18 | c.110 others(35): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17552774 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01081.hp2 others(6): Show |
a0003a0016 | a0003c0003a0016c0024 | a0003c0003t0001a0003c0003t0007a0003c0003t0062others(1): Show | a0003c0003t0001g0142a0003c0003t0001g0251a0003c0003t0007g0154others(6): Show | 9 | 324 | 0.0278 | 18 | c.439 others(33): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00673.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0129a0001c0001t0002g0217a0001c0001t0002g0223others(39): Show | 42 | 340 | 0.1235 | 18 | c.72- others(31): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11025239 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG04199.hp1 HG06807.hp1 NA18975.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0031a0001c0002t0001a0001c0003t0016others(1): Show | a0001c0001t0031g0145a0001c0002t0001g0146a0001c0003t0016g0070others(1): Show | 4 | 194 | 0.0206 | 18 | c.74+ others(33): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11025239 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01109.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0016others(2): Show | a0001c0002t0001g0067a0001c0002t0002g0068a0001c0002t0016g0035others(3): Show | 6 | 194 | 0.0309 | 18 | c.74+ others(33): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11032146 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 194 | 0.0052 | 18 | c.74+ others(35): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11086578 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 194 | 0.0052 | 18 | c.74+ others(35): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11103487 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02273.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0109a0001c0001t0001g0123a0001c0001t0001g0175others(5): Show | 8 | 194 | 0.0412 | 18 | c.75- others(35): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11148843 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0022a0001c0004t0001 | a0001c0001t0022g0022a0001c0004t0001g0152 | 2 | 194 | 0.0103 | 18 | c.75- others(35): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11262940 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0066 | 1 | 194 | 0.0052 | 18 | c.539 others(35): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF4_chr18_37238040_37570798 | 37353233 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03654.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0037 | a0001c0002t0001g0114a0001c0002t0037g0056 | 2 | 184 | 0.0109 | 18 | c.370 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37353233 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 184 | 0.0054 | 18 | c.370 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37353233 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 184 | 0.0054 | 18 | c.370 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37356561 | T | TGCTGGGG others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0009a0001c0001t0018others(7): Show | a0001c0001t0007g0061a0001c0001t0009g0028a0001c0001t0009g0046others(9): Show | 12 | 184 | 0.0652 | 18 | c.370 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37444617 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 184 | 0.0054 | 18 | c.369 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37444652 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0127 | 1 | 184 | 0.0054 | 18 | c.369 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37444652 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0112 | 1 | 184 | 0.0054 | 18 | c.369 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37547160 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0023 | a0001c0001t0001g0159a0001c0001t0003g0155a0001c0001t0023g0161 | 3 | 184 | 0.0163 | 18 | c.286 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3226440 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01071.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0115a0001c0001t0001g0116others(20): Show | 23 | 262 | 0.0878 | 18 | c.259 others(35): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3256064 | C | CAGAAAAA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01123.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0056others(48): Show | 52 | 262 | 0.1985 | 18 | c.342 others(35): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3284998 | T | TGGCCCCG others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG02055.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0004a0001c0005t0007 | a0001c0003t0004g0220a0001c0003t0004g0237a0001c0003t0004g0243others(1): Show | 4 | 262 | 0.0153 | 18 | c.110 others(33): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3289681 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0210 | 1 | 262 | 0.0038 | 18 | c.118 others(35): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCTTCTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 262 | 0.0038 | 18 | c.*27 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCTTCTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 HG01928.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0056a0001c0001t0001g0077others(11): Show | 14 | 262 | 0.0534 | 18 | c.*27 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299563 | T | TTCTTCTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG03098.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0166a0001c0001t0002g0254a0001c0002t0002g0136 | 3 | 262 | 0.0115 | 18 | c.*28 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2488 | chr19 | TogoVar | ||||||
CELF6_chr15_72279727_72325157 | 72314589 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193a0001c0001t0003g0199 | 2 | 300 | 0.0067 | 18 | c.345 others(35): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46373676 | T | TGGGGGAG others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0047 | a0047c0063 | a0047c0063t0003 | a0047c0063t0003g0099 | 1 | 104 | 0.0096 | 18 | c.758 others(35): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46373719 | G | GATGGGAG others(11): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0041 | a0041c0066 | a0041c0066t0002 | a0041c0066t0002g0103 | 1 | 104 | 0.0096 | 18 | c.758 others(35): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46449952 | G | GCACTCAC others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(35): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0004a0001c0029others(31): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0016others(33): Show | a0001c0001t0001g0037a0001c0001t0001g0059a0001c0001t0001g0078others(35): Show | 38 | 104 | 0.3654 | 18 | c.418 others(39): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | TogoVar | ||||||
CELSR2_chr1_109244539_109280751 | 109250037 | C | CGCCGCCG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0041 | 1 | 356 | 0.0028 | 18 | c.-35 others(25): Show |
CELSR2 | ENSG00000143126.8 | transcript | ENST00000271332.4 | protein_coding | 1/34 | 17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |