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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDKAL1_chr6_20529457_21237404 | 21003343 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02129.hp1 NA18948.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0002t0002a0002c0003t0005others(2): Show | a0001c0001t0003g0149a0001c0002t0002g0049a0002c0003t0005g0036others(2): Show | 5 | 196 | 0.0255 | 22 | c.105 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21003369 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03486.hp1 HG03579.hp2 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0018a0001c0004t0037a0002c0007t0029 | a0001c0004t0018g0017a0001c0004t0037g0098a0002c0007t0029g0014 | 3 | 196 | 0.0153 | 22 | c.105 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21003371 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0115 | 1 | 196 | 0.0051 | 22 | c.105 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21003371 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0066 | 1 | 196 | 0.0051 | 22 | c.105 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21003371 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0010a0001c0002t0003a0001c0008t0011others(1): Show | a0001c0001t0010g0109a0001c0002t0003g0150a0001c0002t0003g0184others(2): Show | 5 | 196 | 0.0255 | 22 | c.105 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21003371 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0114 | 1 | 196 | 0.0051 | 22 | c.105 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21079976 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01891.hp1 HG02109.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007a0001c0001t0002g0139a0001c0001t0002g0168others(13): Show | 16 | 196 | 0.0816 | 22 | c.123 others(43): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKL4_chr2_39170646_39248970 | 39226456 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 290 | 0.0035 | 22 | c.169 others(37): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18509197 | G | GCACGCGC others(15): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0172 | 1 | 192 | 0.0052 | 22 | c.65- others(37): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18509197 | G | GCACGCGC others(15): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 | 1 | 192 | 0.0052 | 22 | c.65- others(37): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18509197 | G | GCACGCGC others(15): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18974.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0030a0004c0003t0036 | a0001c0001t0030g0174a0004c0003t0036g0008 | 2 | 192 | 0.0104 | 22 | c.65- others(37): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626661 | C | CCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0013a0001c0006t0002 | a0001c0001t0013g0159a0001c0006t0002g0007 | 2 | 192 | 0.0104 | 22 | c.249 others(41): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 4 | 416 | 0.0096 | 22 | c.151 others(37): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0284a0001c0001t0002g0305 | 4 | 404 | 0.0099 | 22 | c.194 others(37): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21990611 | T | TGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00738.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0031others(26): Show | 29 | 404 | 0.0718 | 22 | c.193 others(39): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2D_chr19_10561460_10573979 | 10570547 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 HG02135.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 410 | 0.0073 | 22 | c.-18 others(33): Show |
CDKN2D | ENSG00000129355.7 | transcript | ENST00000393599.3 | protein_coding | 1569 | chr19 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14838151 | C | CGGTTGCG others(15): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0065 | 2 | 418 | 0.0048 | 22 | c.-22 others(31): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 115 | chr10 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATATGTGT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0012 | a0002c0012t0040 | a0002c0012t0040g0214 | 1 | 334 | 0.0030 | 22 | c.*23 others(33): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | |||||
CDON_chr11_125951821_126067866 | 126063335 | A | AGGCCCCG others(15): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0014 | a0014c0032 | a0014c0032t0088 | a0014c0032t0088g0271 | 1 | 334 | 0.0030 | 22 | c.-81 others(31): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 470 | chr11 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15444714 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03130.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0002 | a0001c0001t0006g0047a0002c0002t0002g0183 | 2 | 430 | 0.0047 | 22 | c.-47 others(39): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
CDV3_chr3_133568686_133595261 | 133594433 | T | TAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02148.hp2 HG02738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0014others(3): Show | 7 | 386 | 0.0181 | 22 | c.*63 others(33): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80702183 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0122 | 1 | 258 | 0.0039 | 22 | c.25- others(39): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80712191 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 258 | 0.0039 | 22 | c.25- others(39): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80712191 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0179 | 1 | 258 | 0.0039 | 22 | c.25- others(39): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80712215 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19030.hp1 |
a0001 | a0001c0005 | a0001c0005t0002a0001c0005t0011 | a0001c0005t0002g0242a0001c0005t0011g0235 | 2 | 258 | 0.0078 | 22 | c.25- others(39): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4819162 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0241 | 1 | 250 | 0.0040 | 22 | c.24+ others(39): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDYL_chr6_4771404_4960544 | 4895385 | G | GCATATAT others(15): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 250 | 0.0040 | 22 | c.691 others(39): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4900779 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0209a0001c0001t0002g0248 | 2 | 250 | 0.0080 | 22 | c.691 others(39): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDYL_chr6_4771404_4960544 | 4900779 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0020a0001c0002t0002g0247 | 2 | 250 | 0.0080 | 22 | c.691 others(39): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEACAM19_chr19_44666482_44689355 | 44666991 | T | TGTGCCAC others(15): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 390 | 0.0026 | 22 | c.-49 others(33): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 4490 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44518103 | A | AAAGAAAG others(15): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 438 | 0.0023 | 22 | c.103 others(39): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532167 | C | CCTGTTTG others(15): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0096 | 1 | 438 | 0.0023 | 22 | c.-26 others(33): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2493 | chr19 | TogoVar | ||||||
CEACAM5_chr19_41703626_41735433 | 41728786 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0101 | 1 | 374 | 0.0027 | 22 | c.*37 others(37): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 314 | 0.0032 | 22 | c.*41 others(37): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CEBPD_chr8_47731913_47743164 | 47740915 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 316 | 0.0032 | 22 | c.-27 others(33): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 2752 | chr8 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17421614 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0139 | 1 | 324 | 0.0031 | 22 | c.126 others(41): 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(15): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp2 HG02615.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0002g0160a0001c0001t0006g0311a0001c0001t0015g0288others(2): Show | 5 | 324 | 0.0154 | 22 | c.127 others(41): 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(15): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0168 | 1 | 324 | 0.0031 | 22 | c.127 others(41): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17447033 | C | CTGTTTTT others(15): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0287 | 1 | 324 | 0.0031 | 22 | c.127 others(41): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17481046 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0268 | 1 | 324 | 0.0031 | 22 | c.221 others(39): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17524387 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18982.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0007 | a0001c0001t0003g0059a0003c0003t0007g0183 | 2 | 324 | 0.0062 | 22 | c.110 others(39): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01358.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0001g0121a0001c0001t0001g0128others(4): Show | 7 | 340 | 0.0206 | 22 | c.72- others(35): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47511354 | C | CCTCTTGG others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(336): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0018others(335): Show | 339 | 340 | 0.9971 | 22 | c.-15 others(43): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11025239 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071a0001c0001t0003g0149 | 2 | 194 | 0.0103 | 22 | c.74+ others(37): 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(15): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 194 | 0.0052 | 22 | c.539 others(39): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11332118 | T | TCCTTCTT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0021a0001c0001t0022a0001c0001t0046others(4): Show | a0001c0001t0021g0076a0001c0001t0021g0089a0001c0001t0022g0017others(6): Show | 9 | 194 | 0.0464 | 22 | c.*30 others(33): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 13/13 | 3088 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
CELF4_chr18_37238040_37570798 | 37470890 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 184 | 0.0054 | 22 | c.369 others(41): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3226440 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01891.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(1): Show | a0001c0001t0002g0012a0001c0001t0003g0233a0001c0003t0002g0232others(1): Show | 4 | 262 | 0.0153 | 22 | c.259 others(39): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3299578 | T | TTCTTTTC others(15): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0239 | 1 | 262 | 0.0038 | 22 | c.*28 others(33): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2503 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46467461 | G | GTGATCCC others(15): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0039 | a0039c0068 | a0039c0068t0001 | a0039c0068t0001g0102 | 1 | 104 | 0.0096 | 22 | c.354 others(41): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar |