view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COX14_chr12_50107236_50125453 | 50112908 | G | GTTATGTT others(6): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 416 | 0.0024 | 13 | c.-9+ others(26): Show |
COX14 | ENSG00000178449.9 | transcript | ENST00000550487.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COX16_chr14_70320081_70364683 | 70328072 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0081 others(12): Show |
20 | 56 | 0.3571 | 13 | c.204 others(30): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70328848 | G | GTATGTAT others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 374 | 0.0027 | 13 | c.204 others(28): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01168.hp1 NA18953.hp1 NA18956.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0017 | a0001c0001t0001g0035 a0001c0002t0002g0203 a0001c0002t0017g0204 |
4 | 88 | 0.0455 | 13 | c.434 others(28): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0216 a0001c0002t0002g0010 a0001c0002t0002g0128 others(2): Show |
10 | 94 | 0.1064 | 13 | c.434 others(28): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0039 a0001c0002t0002g0179 a0001c0002t0002g0180 others(3): Show |
7 | 91 | 0.0769 | 13 | c.434 others(28): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 | 1 | 85 | 0.0118 | 13 | c.434 others(28): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX4I1_chr16_85794695_85812068 | 85795200 | A | ATTCCAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02647.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 2 | 430 | 0.0047 | 13 | c.-45 others(24): Show |
COX4I1 | ENSG00000131143.10 | transcript | ENST00000253452.8 | protein_coding | 4494 | chr16 | TogoVar | |||||||
COX4I2_chr20_31632912_31650006 | 31633906 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01168.hp1 HG02738.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 a0002c0002t0001g0078 a0002c0002t0001g0088 others(1): Show |
5 | 170 | 0.0294 | 13 | c.-40 others(24): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 4005 | chr20 | TogoVar | |||||||
COX4I2_chr20_31632912_31650006 | 31648468 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG02145.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0112 a0001c0001t0001g0114 |
3 | 145 | 0.0207 | 13 | c.*35 others(24): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 3463 | chr20 | TogoVar | |||||||
COX5A_chr15_74914791_74943073 | 74939066 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 95 | 0.0105 | 13 | c.-10 others(24): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 994 | chr15 | TogoVar | |||||||
COX6A1_chr12_120433113_120445730 | 120437394 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 130 | 0.0077 | 13 | c.-73 others(22): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 718 | chr12 | TogoVar | |||||||
COX6B1_chr19_35643323_35663782 | 35655788 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 435 | 0.0023 | 13 | c.207 others(30): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46880993 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG02071.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0236 a0001c0001t0003g0226 a0001c0001t0003g0228 others(8): Show |
11 | 178 | 0.0618 | 13 | c.-10 others(34): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
COX8A_chr11_63969620_63981543 | 63979706 | G | GGAGGAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | 13 | c.*33 others(24): Show |
COX8A | ENSG00000176340.4 | transcript | ENST00000314133.4 | protein_coding | 3164 | chr11 | TogoVar | |||||||
CPA1_chr7_130375494_130393108 | 130392392 | A | ACACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 427 | 0.0023 | 13 | c.*43 others(24): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 4285 | chr7 | TogoVar | |||||||
CPA2_chr7_130261863_130294798 | 130267773 | C | CTTCTTTC others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 51 | 0.0196 | 13 | c.71+ others(26): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPA3_chr3_148860296_148902203 | 148899547 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 NA18981.hp1 NA19068.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0169 others(1): Show |
4 | 16 | 0.2500 | 13 | c.*28 others(24): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67653274 | T | TTTTGTAA others(6): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 142 | 0.0070 | 13 | c.117 others(32): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67681200 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02135.hp2 HG03471.hp2 others(2): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0007 | a0001c0001t0001a0002c0002t0001a0009c0007t0001 | a0001c0001t0001g0016 a0001c0001t0001g0111 a0001c0001t0001g0120 others(2): Show |
5 | 53 | 0.0943 | 13 | c.117 others(32): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67733196 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0022 |
2 | 118 | 0.0169 | 13 | c.116 others(32): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67749708 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG03471.hp2 |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0009c0007t0001 | a0001c0001t0001g0133 a0009c0007t0001g0132 |
2 | 12 | 0.1667 | 13 | c.-35 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 3349 | chr8 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16987179 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0032 | a0032c0141 | a0032c0141t0002 | a0032c0141t0002g0244 | 1 | 142 | 0.0070 | 13 | c.139 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16987179 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0086 | a0086c0079 | a0086c0079t0001 | a0086c0079t0001g0080 | 1 | 142 | 0.0070 | 13 | c.139 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16987179 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0041 | a0041c0046 | a0041c0046t0002 | a0041c0046t0002g0136 | 1 | 142 | 0.0070 | 13 | c.139 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16990863 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18992.hp1 NA19000.hp1 |
a0026a0113a0116 | a0026c0125a0113c0134a0116c0130 | a0026c0125t0002a0113c0134t0001a0116c0130t0002 | a0026c0125t0002g0034 a0113c0134t0001g0109 a0116c0130t0002g0029 |
3 | 80 | 0.0375 | 13 | c.126 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 12/41 | chr19 | TogoVar | |||||||
CPB2_chr13_46048186_46110033 | 46108157 | T | TATATATA others(6): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 | 1 | 43 | 0.0233 | 13 | c.-31 others(24): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 3125 | chr13 | TogoVar | |||||||
CPD_chr17_30373927_30474989 | 30472981 | C | CATGCCAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0017 | 1 | 294 | 0.0034 | 13 | c.*81 others(24): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 2993 | chr17 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82584903 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0206 a0001c0001t0014g0210 |
2 | 4 | 0.5000 | 13 | c.272 others(32): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92059325 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(70): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0012a0001c0001t0013a0001c0001t0019others(13): Show | a0001c0001t0012g0195 a0001c0001t0013g0258 a0001c0001t0013g0268 others(70): Show |
73 | 171 | 0.4269 | 13 | c.187 others(32): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92289718 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01109.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0008a0001c0002t0002others(4): Show | a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0008g0218 others(13): Show |
16 | 130 | 0.1231 | 13 | c.-12 others(30): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92289732 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0275 | 1 | 208 | 0.0048 | 13 | c.-12 others(30): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92289732 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0120 | 1 | 208 | 0.0048 | 13 | c.-12 others(30): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121043077 | C | CTTAGAAA others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01433.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0003t0001g0135 others(5): Show |
8 | 138 | 0.0580 | 13 | c.434 others(30): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 3/22 | chr7 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121199693 | A | AGAAAGAA others(6): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01433.hp2 HG02523.hp2 others(6): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(3): Show | a0002c0002t0001g0087 a0002c0002t0001g0124 a0002c0002t0002g0063 others(6): Show |
9 | 64 | 0.1406 | 13 | c.205 others(34): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | chr7 | TogoVar | |||||||
CPHXL_chr16_75709131_75731490 | 75725753 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02132.hp2 NA18747.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0099 others(2): Show |
13 | 89 | 0.1461 | 13 | c.25+ others(26): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CPLANE1_chr5_37101235_37254376 | 37154459 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02300.hp1 HG03831.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 a0002c0002t0001g0027 |
2 | 79 | 0.0253 | 13 | c.812 others(30): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 41/52 | chr5 | TogoVar | |||||||
CPLANE1_chr5_37101235_37254376 | 37187060 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0042 | 1 | 69 | 0.0145 | 13 | c.408 others(30): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 23/52 | chr5 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 783059 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022 | a0001c0001t0010g0152 a0001c0001t0022g0346 |
2 | 342 | 0.0058 | 13 | c.*34 others(24): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 1897 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826348 | G | GGCGGGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0019 | a0001c0001t0009g0001 a0001c0001t0009g0005 a0001c0001t0009g0029 others(5): Show |
12 | 413 | 0.0291 | 13 | c.-38 others(22): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 220 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826466 | C | CGGGGCGG others(6): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0377 | 1 | 162 | 0.0062 | 13 | c.-50 others(22): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 338 | chr4 | TogoVar | |||||||
CPLX2_chr5_175866578_175889021 | 175871446 | A | AGAGAGAG others(6): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0029 | 1 | 374 | 0.0027 | 13 | c.-34 others(22): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 131 | chr5 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68847187 | G | GTACATTA others(6): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 331 | 0.0030 | 13 | c.*92 others(24): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 3987 | chr12 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68847452 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp1 |
a0002 | a0002c0005a0002c0008 | a0002c0005t0022a0002c0008t0023 | a0002c0005t0022g0013 a0002c0008t0023g0032 |
2 | 67 | 0.0299 | 13 | c.*89 others(24): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 3722 | chr12 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68931763 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0003 | a0002c0003t0048 | a0002c0003t0048g0024 | 1 | 293 | 0.0034 | 13 | c.160 others(28): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
CPNE1_chr20_35621044_35669900 | 35627187 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG04115.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 a0002c0002t0001g0104 a0002c0002t0001g0105 |
4 | 135 | 0.0296 | 13 | c.123 others(28): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 14/15 | chr20 | TogoVar | |||||||
CPNE1_chr20_35621044_35669900 | 35633903 | G | GCACTCGG others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00597.hp2 others(56): Show |
a0002a0003 | a0002c0002a0002c0011a0003c0003others(1): Show | a0002c0002t0001a0002c0011t0001a0003c0003t0001others(1): Show | a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 others(51): Show |
59 | 270 | 0.2185 | 13 | c.1-9 others(24): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
CPNE2_chr16_57087583_57153369 | 57116852 | G | GAGGCCCC others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 360 | 0.0028 | 13 | c.436 others(28): Show |
CPNE2 | ENSG00000140848.17 | transcript | ENST00000290776.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE3_chr8_86509435_86566498 | 86522548 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0291 | 1 | 129 | 0.0078 | 13 | c.-10 others(30): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPNE3_chr8_86509435_86566498 | 86527946 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG03209.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0007a0002c0003t0005 | a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0240 others(3): Show |
6 | 115 | 0.0522 | 13 | c.-10 others(28): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |