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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH26_chr20_59953423_60019529 | 59953953 | TATATATA others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 288 | 0.0035 | -36 | c.-47 others(47): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4469 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953957 | TATATATA others(29): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0096a0001c0001t0005g0118 | 2 | 288 | 0.0069 | -36 | c.-47 others(47): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4465 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953959 | TATATATA others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 288 | 0.0035 | -36 | c.-47 others(47): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4463 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953961 | TATATATA others(29): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02886.hp1 HG02886.hp2 |
a0001a0012 | a0001c0001a0001c0004a0012c0016 | a0001c0001t0006a0001c0004t0023a0012c0016t0030 | a0001c0001t0006g0005a0001c0004t0023g0043a0012c0016t0030g0015 | 3 | 288 | 0.0104 | -36 | c.-47 others(47): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4461 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59968009 | TTCTTCCT others(29): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02165.hp2 HG02622.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0006a0001c0001t0007a0001c0001t0013others(2): Show | a0001c0001t0006g0046a0001c0001t0007g0050a0001c0001t0013g0038others(3): Show | 6 | 288 | 0.0208 | -36 | c.70- others(49): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61654896 | CCGCTCTG others(29): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00639.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(20): Show | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0001t0002g0076others(22): Show | 25 | 106 | 0.2359 | -36 | c.170 others(55): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61689222 | CGGGCTGG others(29): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(4): Show | a0001c0001t0001g0049a0001c0001t0002g0076a0001c0001t0002g0078others(5): Show | 8 | 106 | 0.0755 | -36 | c.170 others(55): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61689918 | GTGGTTGG others(29): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 106 | 0.0094 | -36 | c.170 others(55): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDHR5_chr11_611583_629955 | 628927 | TTCTTTCT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02257.hp2 others(9): Show |
a0001a0004a0008others(1): Show | a0001c0046a0004c0009a0008c0015others(1): Show | a0001c0046t0001a0004c0009t0002a0004c0009t0004others(2): Show | a0001c0046t0001g0072a0004c0009t0002g0081a0004c0009t0004g0015others(3): Show | 12 | 409 | 0.0293 | -36 | c.-40 others(47): Show |
CDHR5 | ENSG00000099834.19 | transcript | ENST00000397542.7 | protein_coding | 3973 | chr11 | TogoVar | ||||||
CDK12_chr17_39456486_39539544 | 39481676 | CTCTCTCT others(29): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG02922.hp2 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0040a0001c0001t0052 | a0001c0001t0013g0109a0001c0001t0040g0114a0001c0001t0052g0111 | 3 | 260 | 0.0115 | -36 | c.193 others(55): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90649301 | TTTCTTTC others(29): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 1 | 168 | 0.0060 | -36 | c.123 others(55): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK5R2_chr2_218954666_218967155 | 218962469 | CAGCGGAG others(29): Show |
C | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 388 | 0.0026 | -36 | c.*15 others(47): Show |
CDK5R2 | ENSG00000171450.6 | transcript | ENST00000302625.6 | protein_coding | 315 | chr2 | TogoVar | ||||||
CDK5_chr7_151048815_151062897 | 151061315 | CCCTCCTG others(29): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 416 | 0.0024 | -36 | c.-35 others(47): Show |
CDK5 | ENSG00000164885.13 | transcript | ENST00000485972.6 | protein_coding | 3419 | chr7 | TogoVar | ||||||
CDK9_chr9_127781034_127795792 | 127781897 | GGGGCAGG others(29): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 412 | 0.0024 | -36 | c.-42 others(47): Show |
CDK9 | ENSG00000136807.14 | transcript | ENST00000373264.5 | protein_coding | 4136 | chr9 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20864226 | TGCAACTG others(29): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(182): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0018others(182): Show | 185 | 196 | 0.9439 | -36 | c.742 others(55): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | chr6 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75595954 | GAGGAAGG others(29): Show |
G | intron_variant | MODIFIER | HG02559.hp2 NA18612.hp1 NA18967.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0096a0001c0001t0001g0193a0001c0001t0001g0204others(3): Show | 6 | 306 | 0.0196 | -36 | c.141 others(53): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75595997 | GAAGGAAG others(29): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01891.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012 | a0001c0001t0003g0030a0001c0001t0004g0072a0001c0001t0004g0084others(3): Show | 6 | 306 | 0.0196 | -36 | c.141 others(53): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
CDKN2AIPNL_chr5_134397065_134416881 | 134412364 | AGAGGCAA others(29): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 380 | 0.0026 | -36 | c.-54 others(45): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 484 | chr5 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21981092 | GTATATAT others(29): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 404 | 0.0025 | -36 | c.194 others(53): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15465225 | CACAGACA others(29): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0060 | 1 | 430 | 0.0023 | -36 | c.-13 others(55): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84599395 | CACACACA others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(208): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0006a0004c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(205): Show | 211 | 384 | 0.5495 | -36 | c.118 others(53): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDS1_chr4_84578127_84656334 | 84599399 | CACACACA others(29): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0007g0044a0001c0001t0007g0045a0001c0001t0007g0046others(6): Show | 9 | 384 | 0.0234 | -36 | c.118 others(53): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDS1_chr4_84578127_84656334 | 84599401 | CACACATA others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0018a0001c0001t0032others(1): Show | a0001c0001t0010g0378a0001c0001t0018g0373a0001c0001t0032g0060others(10): Show | 13 | 384 | 0.0339 | -36 | c.118 others(53): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEACAM18_chr19_51473539_51496301 | 51495225 | ATGGATGG others(29): Show |
A | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 420 | 0.0024 | -36 | c.*45 others(47): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 3925 | chr19 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668313 | TTATTATA others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022a0001c0004t0001g0061 | 4 | 390 | 0.0103 | -36 | c.-36 others(47): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3168 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44518099 | AAAGAAAG others(29): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0357 | 1 | 438 | 0.0023 | -36 | c.103 others(53): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44518103 | AAAGGAAG others(29): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03130.hp2 others(2): Show |
a0010a0015 | a0010c0017a0015c0021 | a0010c0017t0001a0015c0021t0001 | a0010c0017t0001g0393a0015c0021t0001g0072a0015c0021t0001g0073others(2): Show | 5 | 438 | 0.0114 | -36 | c.103 others(53): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532541 | AAGGAAAG others(29): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 HG02300.hp1 HG02602.hp2 others(2): Show |
a0002a0005a0009 | a0002c0032a0005c0005a0009c0007 | a0002c0032t0001a0005c0005t0002a0009c0007t0001 | a0002c0032t0001g0064a0005c0005t0002g0035a0009c0007t0001g0003others(1): Show | 5 | 438 | 0.0114 | -36 | c.-30 others(47): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2867 | chr19 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37194875 | CCCTCCCT others(29): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02300.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0024others(3): Show | a0001c0001t0003g0005a0001c0001t0011g0009a0001c0001t0024g0018others(3): Show | 13 | 466 | 0.0279 | -36 | c.-16 others(47): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1620 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37194879 | CCCTTCCT others(29): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG02055.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032a0001c0001t0042 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0032g0001others(1): Show | 6 | 466 | 0.0129 | -36 | c.-16 others(47): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1616 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37194897 | TTTCCTTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0008g0001others(9): Show | 23 | 466 | 0.0494 | -36 | c.-16 others(47): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1598 | chr2 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15455637 | GCATTATG others(29): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0021others(19): Show | 27 | 430 | 0.0628 | -36 | c.-11 others(47): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 1094 | chr1 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541721 | AGAAAGAA others(29): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 340 | 0.0029 | -36 | c.-15 others(57): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37565877 | TCCTCTCT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0037 | 1 | 184 | 0.0054 | -36 | c.-27 others(45): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 80 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3248873 | CCTTCCTT others(29): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0040 | 1 | 262 | 0.0038 | -36 | c.260 others(53): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CENPE_chr4_103100811_103203343 | 103112889 | TAAGTGTA others(29): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0017 | 1 | 320 | 0.0031 | -36 | c.754 others(55): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214616835 | CTCTTTCT others(29): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01346.hp2 NA20300.hp1 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0002a0005c0005t0003 | a0003c0003t0002g0062a0005c0005t0003g0248a0005c0005t0003g0252 | 3 | 282 | 0.0106 | -36 | c.360 others(53): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPJ_chr13_24877279_24927861 | 24881944 | ATAGATAT others(29): Show |
A | downstream_gene_variant | MODIFIER | NA18943.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0195 | 1 | 440 | 0.0023 | -36 | c.*11 others(47): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 334 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882115 | TATAGATA others(29): Show |
T | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0153 | 1 | 440 | 0.0023 | -36 | c.*10 others(47): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 163 | chr13 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTAT others(29): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0092 | 1 | 164 | 0.0061 | -36 | c.280 others(57): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656279 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02922.hp2 others(5): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0001c0001t0005a0004c0004t0003others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0005g0004others(5): Show | 8 | 164 | 0.0488 | -36 | c.280 others(57): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117376595 | CCAGCCTT others(29): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037a0001c0002t0001g0040a0001c0002t0001g0041others(4): Show | 7 | 390 | 0.0180 | -36 | c.131 others(53): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 11/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104891068 | TGGATGGA others(29): Show |
T | intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0216 | 1 | 328 | 0.0031 | -36 | c.387 others(55): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26282338 | GCCGGGAC others(29): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02257.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0010others(1): Show | a0001c0001t0001a0004c0004t0003a0004c0004t0008others(2): Show | a0001c0001t0001g0284a0001c0001t0001g0285a0004c0004t0003g0292others(6): Show | 9 | 342 | 0.0263 | -36 | c.*50 others(47): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3531 | chr1 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101724940 | CCAGAAGC others(29): Show |
C | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 352 | 0.0028 | -36 | c.43+ others(49): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CER1_chr9_14714724_14727733 | 14719553 | GCCTGCCT others(29): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp1 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 2 | 460 | 0.0044 | -36 | c.*50 others(45): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 170 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181583857 | GTTAACTA others(29): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 298 | 0.0034 | -36 | c.482 others(54): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181641310 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02451.hp2 NA18522.hp2 NA20300.hp2 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0008 | a0001c0002t0001g0132a0003c0005t0008g0130a0003c0005t0008g0131 | 3 | 298 | 0.0101 | -36 | c.238 others(55): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181641320 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 298 | 0.0034 | -36 | c.238 others(55): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75474818 | GGAGTCTA others(29): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(240): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0036a0001c0001t0001g0310a0001c0001t0001g0311others(240): Show | 243 | 336 | 0.7232 | -36 | c.232 others(55): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar |