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 | 21093694 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00609.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0126others(40): Show | 43 | 196 | 0.2194 | -13 | c.123 others(34): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21191992 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0008a0001c0005t0021others(1): Show | a0001c0001t0001g0192a0001c0001t0008g0016a0001c0005t0021g0026others(1): Show | 4 | 196 | 0.0204 | -13 | c.130 others(32): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21196377 | CCATTGAA others(6): Show |
C | intron_variant | MODIFIER | HG02027.hp2 NA18956.hp2 NA18994.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0108a0001c0002t0002g0041a0001c0002t0003g0114others(1): Show | 4 | 196 | 0.0204 | -13 | c.130 others(32): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21203215 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01106.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0002g0172a0001c0001t0003g0113others(12): Show | 15 | 196 | 0.0765 | -13 | c.154 others(32): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21210055 | TGTAATAG others(6): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(38): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0001g0007a0001c0001t0001g0070a0001c0001t0001g0094others(38): Show | 41 | 196 | 0.2092 | -13 | c.154 others(32): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 15/15 | chr6 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50327459 | CTTTTTTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0039 | a0002c0002t0039g0266a0002c0002t0039g0267 | 2 | 306 | 0.0065 | -13 | c.*26 others(24): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2602 | chr14 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50385070 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0227a0001c0001t0035g0228 | 2 | 306 | 0.0065 | -13 | c.168 others(32): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50389097 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0058 | a0001c0001t0014g0111a0001c0001t0014g0112a0001c0001t0058g0110 | 3 | 306 | 0.0098 | -13 | c.168 others(30): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75574389 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01256.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0004g0050others(5): Show | 8 | 306 | 0.0261 | -13 | c.*48 others(24): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 2106 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75629938 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02897.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0015a0003c0003t0022 | a0001c0001t0015g0097a0003c0003t0022g0098 | 2 | 306 | 0.0065 | -13 | c.-30 others(27): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18518388 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 192 | 0.0052 | -13 | c.99+ others(28): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18529045 | CATGTTTA others(6): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0013 | 1 | 192 | 0.0052 | -13 | c.99+ others(30): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626660 | CCCTCTCT others(6): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0016 | 1 | 192 | 0.0052 | -13 | c.249 others(32): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626708 | CTCTCTCT others(6): Show |
C | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 192 | 0.0052 | -13 | c.249 others(32): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | TogoVar | ||||||
CDKN1C_chr11_2878218_2890775 | 2889100 | GAAGAAGA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 417 | 0.0048 | -13 | c.-34 others(24): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 3326 | chr11 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14827052 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355a0001c0001t0001g0356 | 2 | 418 | 0.0048 | -13 | c.243 others(30): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125981965 | ATTTTCTT others(6): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0017others(3): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0037others(5): Show | a0001c0001t0001g0244a0002c0003t0001g0135a0002c0003t0001g0139others(8): Show | 11 | 334 | 0.0329 | -13 | c.299 others(30): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 16/19 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126040814 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00673.hp1 others(61): Show |
a0001a0002a0004others(12): Show | a0001c0004a0001c0009a0001c0020others(24): Show | a0001c0004t0003a0001c0009t0059a0001c0020t0001others(43): Show | a0001c0004t0003g0051a0001c0009t0059g0215a0001c0020t0001g0218others(60): Show | 64 | 334 | 0.1916 | -13 | c.-61 others(32): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74997067 | TCTTTCTT others(6): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(15): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0008a0001c0003t0004others(1): Show | a0001c0002t0002g0030a0001c0002t0002g0034a0001c0002t0002g0112others(9): Show | 18 | 352 | 0.0511 | -13 | c.80- others(28): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CDS2_chr20_5122008_5202887 | 5151750 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02145.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0003g0149a0001c0001t0007g0023a0001c0001t0007g0025others(14): Show | 17 | 348 | 0.0489 | -13 | c.58- others(30): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDX2_chr13_27955918_27974315 | 27964708 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG01891.hp1 others(22): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0003c0003t0004a0003c0003t0011 | a0002c0002t0004g0077a0003c0003t0004g0005a0003c0003t0004g0030others(2): Show | 25 | 418 | 0.0598 | -13 | c.687 others(28): Show |
CDX2 | ENSG00000165556.10 | transcript | ENST00000381020.8 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80680837 | ACCCACCC others(6): Show |
A | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 258 | 0.0039 | -13 | c.616 others(30): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80748506 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 258 | 0.0039 | -13 | c.24+ others(30): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80805803 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0051a0001c0001t0001g0055a0001c0001t0001g0064others(12): Show | 15 | 258 | 0.0581 | -13 | c.-16 others(24): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1206 | chr16 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4852549 | TTCCTTCC others(6): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0112a0001c0001t0002g0131a0001c0001t0002g0228others(1): Show | 4 | 250 | 0.0160 | -13 | c.25- others(30): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEACAM19_chr19_44666482_44689355 | 44670781 | GAAAAAAA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -13 | c.-11 others(24): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 700 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532494 | AAAGAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0096 | 1 | 438 | 0.0023 | -13 | c.-29 others(24): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2820 | chr19 | TogoVar | ||||||
CEACAM6_chr19_41750530_41777211 | 41769974 | GTTATATT others(6): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0141 | 1 | 426 | 0.0024 | -13 | c.*41 others(28): Show |
CEACAM6 | ENSG00000086548.9 | transcript | ENST00000199764.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CEACAM8_chr19_42575243_42599924 | 42581917 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0091a0001c0001t0004g0020 | 3 | 314 | 0.0096 | -13 | c.*41 others(28): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37202644 | CAAAAAAA others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0055 | a0001c0001t0023g0015a0001c0001t0023g0024a0001c0001t0055g0003 | 4 | 466 | 0.0086 | -13 | c.*82 others(22): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 956 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CEBPZ_chr2_37196612_37236596 | 37202644 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0033a0001c0004t0001g0075a0001c0004t0001g0084 | 4 | 438 | 0.0091 | -13 | c.302 others(30): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 15/15 | chr2 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17525334 | GAAAAGAA others(6): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0101 | 1 | 324 | 0.0031 | -13 | c.110 others(32): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51346603 | ACTGGACC others(6): Show |
A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0004others(5): Show | a0002c0002t0002a0002c0003t0001a0002c0003t0002others(6): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0018others(115): Show | 211 | 406 | 0.5197 | -13 | c.16+ others(23): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15455132 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 NA18952.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007a0001c0002t0001g0237 | 2 | 430 | 0.0047 | -13 | c.-16 others(24): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 1599 | chr1 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15458908 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0175 | 1 | 430 | 0.0023 | -13 | c.129 others(30): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELA2A_chr1_15451732_15477091 | 15465003 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01516.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023a0001c0002t0001g0024a0001c0002t0001g0050others(6): Show | 14 | 430 | 0.0326 | -13 | c.494 others(28): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELA2B_chr1_15471104_15496395 | 15483051 | TGCTGGCA others(6): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0065a0001c0001t0001g0177 | 4 | 414 | 0.0097 | -13 | c.357 others(28): Show |
CELA2B | ENSG00000215704.10 | transcript | ENST00000375910.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELA3B_chr1_21972022_21994354 | 21979443 | CTTTTCTT others(6): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 444 | 0.0023 | -13 | c.129 others(29): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELF1_chr11_47460937_47558132 | 47525928 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 340 | 0.0029 | -13 | c.-15 others(34): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47547065 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105a0001c0001t0002g0107a0001c0001t0002g0108 | 3 | 340 | 0.0088 | -13 | c.-15 others(32): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11086578 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0072 | 1 | 194 | 0.0052 | -13 | c.74+ others(30): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11173055 | ATGTCTAG others(6): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00642.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0026a0001c0001t0001g0031a0001c0001t0001g0097others(65): Show | 68 | 194 | 0.3505 | -13 | c.271 others(30): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF4_chr18_37238040_37570798 | 37314653 | ACCCTGCC others(6): Show |
A | intron_variant | MODIFIER | NA20805.hp1 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0118a0001c0002t0003g0163 | 2 | 184 | 0.0109 | -13 | c.448 others(30): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37413345 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 184 | 0.0054 | -13 | c.369 others(32): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37444570 | CCCTTCTC others(6): Show |
C | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0164 | 1 | 184 | 0.0054 | -13 | c.369 others(32): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37476750 | CTCGTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 184 | 0.0054 | -13 | c.369 others(30): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3248914 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02132.hp2 HG03710.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0056a0001c0001t0001g0089a0001c0001t0001g0108others(7): Show | 10 | 262 | 0.0382 | -13 | c.260 others(30): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3301316 | GTTTTTTT others(6): Show |
G | downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 262 | 0.0038 | -13 | c.*46 others(24): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4241 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01169.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0157a0001c0001t0001g0166others(7): Show | 10 | 262 | 0.0382 | -13 | c.*46 others(24): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | ||||||
CELF6_chr15_72279727_72325157 | 72325115 | CTTTCTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(89): Show | 132 | 300 | 0.4400 | -13 | c.-52 others(24): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 4959 | chr15 | TogoVar |