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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPA6_chr8_67417038_67751360 | 67475875 | CTTTCTCC others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 144 | 0.0069 | -12 | c.838 others(29): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67475881 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02965.hp1 NA18964.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0062a0001c0001t0001g0064a0001c0001t0003g0001others(1): Show | 4 | 144 | 0.0278 | -12 | c.838 others(29): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67496519 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 144 | 0.0069 | -12 | c.636 others(31): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67607154 | CTCTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0132 | 1 | 144 | 0.0069 | -12 | c.192 others(31): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67607169 | CTCTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0064others(3): Show | 6 | 144 | 0.0417 | -12 | c.192 others(31): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67616501 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp2 HG06807.hp2 |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0009c0007t0001 | a0001c0001t0001g0140a0009c0007t0001g0132 | 2 | 144 | 0.0139 | -12 | c.192 others(29): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67634179 | AATTATTA others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp2 NA18991.hp2 NA19066.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0085a0001c0001t0001g0086a0002c0002t0001g0078 | 3 | 144 | 0.0208 | -12 | c.117 others(29): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67711686 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 144 | 0.0069 | -12 | c.116 others(31): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67713097 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 144 | 0.0069 | -12 | c.116 others(31): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67748275 | CAGATAGA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 144 | 0.0069 | -12 | c.-21 others(23): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1916 | chr8 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16894921 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02257.hp1 others(3): Show |
a0007a0030a0034others(2): Show | a0007c0016a0030c0167a0034c0071others(2): Show | a0007c0016t0001a0030c0167t0001a0034c0071t0001others(2): Show | a0007c0016t0001g0123a0007c0016t0001g0124a0030c0167t0001g0271others(3): Show | 6 | 278 | 0.0216 | -12 | c.542 others(31): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 41/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16906337 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01175.hp1 others(13): Show |
a0003a0004a0011others(12): Show | a0003c0002a0004c0005a0011c0012others(12): Show | a0003c0002t0002a0004c0005t0002a0011c0012t0002others(12): Show | a0003c0002t0002g0186a0003c0002t0002g0200a0004c0005t0002g0188others(13): Show | 16 | 278 | 0.0576 | -12 | c.402 others(29): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16906399 | TTTCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01993.hp2 others(6): Show |
a0002a0008a0010others(6): Show | a0002c0056a0008c0009a0010c0004others(6): Show | a0002c0056t0001a0008c0009t0001a0010c0004t0001others(6): Show | a0002c0056t0001g0081a0008c0009t0001g0231a0010c0004t0001g0088others(6): Show | 9 | 278 | 0.0324 | -12 | c.402 others(29): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16920855 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(116): Show |
a0001a0002a0003others(53): Show | a0001c0001a0001c0007a0001c0033others(78): Show | a0001c0001t0002a0001c0007t0002a0001c0033t0002others(78): Show | a0001c0001t0002g0147a0001c0001t0002g0158a0001c0001t0002g0185others(116): Show | 119 | 278 | 0.4281 | -12 | c.362 others(31): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 27/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16939149 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03098.hp2 others(1): Show |
a0010a0045a0088others(1): Show | a0010c0004a0045c0118a0088c0047others(1): Show | a0010c0004t0001a0045c0118t0001a0088c0047t0001others(1): Show | a0010c0004t0001g0068a0045c0118t0001g0024a0088c0047t0001g0161others(1): Show | 4 | 278 | 0.0144 | -12 | c.279 others(29): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 22/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 17018717 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02451.hp1 others(6): Show |
a0002a0042a0044others(6): Show | a0002c0017a0042c0174a0044c0021others(6): Show | a0002c0017t0001a0042c0174t0001a0044c0021t0002others(6): Show | a0002c0017t0001g0162a0042c0174t0001g0160a0044c0021t0002g0085others(6): Show | 9 | 278 | 0.0324 | -12 | c.267 others(29): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 3/41 | chr19 | TogoVar | ||||||
CPB1_chr3_148822811_148865187 | 148846797 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG02818.hp1 HG02886.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0205a0002c0002t0001g0023a0003c0003t0001g0038others(1): Show | 5 | 456 | 0.0110 | -12 | c.981 others(29): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPB2_chr13_46048186_46110033 | 46059577 | TATCATCA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG03139.hp1 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0039a0001c0001t0001g0042a0001c0001t0001g0159others(1): Show | 4 | 330 | 0.0121 | -12 | c.797 others(29): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 8/10 | chr13 | TogoVar | ||||||
CPB2_chr13_46048186_46110033 | 46068979 | AAAATAAT others(5): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 330 | 0.0030 | -12 | c.592 others(29): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
CPB2_chr13_46048186_46110033 | 46108157 | TTATATAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0230 | 1 | 330 | 0.0030 | -12 | c.-31 others(23): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 3125 | chr13 | TogoVar | ||||||
CPD_chr17_30373927_30474989 | 30474467 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0248a0001c0001t0001g0250others(3): Show | 7 | 296 | 0.0237 | -12 | c.*96 others(23): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 4479 | chr17 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82572188 | CAGCCCAA others(5): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0049 | a0002c0003t0049g0231 | 1 | 354 | 0.0028 | -12 | c.272 others(27): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82574722 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001a0001c0001t0018g0084 | 3 | 354 | 0.0085 | -12 | c.272 others(29): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82600897 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0083 | 1 | 354 | 0.0028 | -12 | c.271 others(31): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB2_chr4_14997481_15075151 | 15018936 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG01975.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0005 | a0001c0001t0001g0030a0005c0005t0005g0010a0005c0005t0005g0015others(8): Show | 15 | 288 | 0.0521 | -12 | c.212 others(31): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPEB3_chr10_92041692_92296078 | 92058552 | AATACATA others(5): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0275 | 1 | 278 | 0.0036 | -12 | c.187 others(31): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 9/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92098160 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0005a0001c0001t0002g0129a0001c0001t0002g0262others(38): Show | 41 | 278 | 0.1475 | -12 | c.157 others(31): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92108820 | CAATCCAA others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0009 | a0001c0009t0035 | a0001c0009t0035g0133 | 1 | 278 | 0.0036 | -12 | c.157 others(31): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92250983 | AGCCTCCC others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0014a0001c0002t0004g0051 | 2 | 278 | 0.0072 | -12 | c.-11 others(31): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92280830 | GCTCACTG others(5): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG01952.hp1 HG02004.hp2 others(16): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0002a0001c0002t0003a0001c0002t0042others(1): Show | a0001c0002t0002g0020a0001c0002t0002g0024a0001c0002t0002g0025others(16): Show | 19 | 278 | 0.0684 | -12 | c.-12 others(31): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92286622 | GCTACTAG others(5): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0150a0001c0001t0007g0151a0001c0001t0007g0152others(2): Show | 5 | 278 | 0.0180 | -12 | c.-12 others(29): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPEB4_chr5_173883349_173966980 | 173905007 | TAATAATA others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02622.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0029a0001c0001t0002g0213a0001c0001t0005g0251others(6): Show | 11 | 372 | 0.0296 | -12 | c.112 others(31): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121047646 | TTTCTTCT others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02280.hp2 HG02723.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0120a0001c0001t0002g0122a0001c0001t0002g0132others(3): Show | 6 | 140 | 0.0429 | -12 | c.540 others(27): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121088763 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0067a0001c0001t0002g0068a0001c0001t0010g0121 | 3 | 140 | 0.0214 | -12 | c.617 others(29): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121098813 | TAATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067a0001c0001t0002g0068 | 2 | 140 | 0.0143 | -12 | c.749 others(29): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121114907 | ATGCATAA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 140 | 0.0071 | -12 | c.919 others(29): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121189760 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03453.hp1 |
a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0016a0003c0005t0003g0017 | 2 | 140 | 0.0143 | -12 | c.205 others(33): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121189787 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG06807.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0003t0002g0028 | 3 | 140 | 0.0214 | -12 | c.205 others(33): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121256117 | AAAAAAAC others(5): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0045 | 1 | 140 | 0.0071 | -12 | c.231 others(33): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121295140 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0037 | 1 | 140 | 0.0071 | -12 | c.286 others(29): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165442035 | TGTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02895.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018a0001c0001t0001g0162a0001c0001t0003g0026 | 3 | 332 | 0.0090 | -12 | c.308 others(31): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37105322 | CAAAAACA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 268 | 0.0037 | -12 | c.*22 others(23): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 912 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37108198 | CAAAAAAC others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0030 | a0030c0019 | a0030c0019t0001 | a0030c0019t0001g0243 | 1 | 268 | 0.0037 | -12 | c.957 others(27): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 52/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37124264 | ATAAACTG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0009a0001c0010others(42): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(51): Show | a0001c0001t0001g0067a0001c0001t0001g0069a0001c0001t0001g0070others(264): Show | 267 | 268 | 0.9963 | -12 | c.895 others(29): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 47/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37217606 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | NA18612.hp2 NA18946.hp1 NA18961.hp2 others(5): Show |
a0005 | a0005c0008a0005c0023 | a0005c0008t0001a0005c0023t0001 | a0005c0008t0001g0118a0005c0008t0001g0132a0005c0008t0001g0189others(5): Show | 8 | 268 | 0.0299 | -12 | c.274 others(31): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 15/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37232839 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01515.hp1 others(1): Show |
a0010 | a0010c0015a0010c0025a0010c0040 | a0010c0015t0001a0010c0025t0001a0010c0040t0001 | a0010c0015t0001g0050a0010c0015t0001g0051a0010c0025t0001g0049others(1): Show | 4 | 268 | 0.0149 | -12 | c.939 others(29): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 8/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37245297 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(36): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0010a0003c0004others(9): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(9): Show | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0081others(36): Show | 39 | 268 | 0.1455 | -12 | c.337 others(27): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 4/52 | chr5 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 783629 | CTGGTAGG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00738.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0035a0001c0001t0006g0044a0001c0001t0006g0045others(27): Show | 30 | 416 | 0.0721 | -12 | c.*28 others(23): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 1327 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 826250 | GCGGGGGT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 416 | 0.0024 | -12 | c.-29 others(21): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 122 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 826301 | GGGGGGTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp2 HG06807.hp1 NA18966.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0025 | a0001c0001t0001g0208a0001c0001t0001g0235a0001c0001t0012g0023others(1): Show | 4 | 416 | 0.0096 | -12 | c.-34 others(21): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 173 | chr4 | TogoVar |