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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APOC2_chr19_44941051_44954565 | 44948730 | G | A | missense_variant | MODERATE | HG03098.hp1 | a0006 | a0006c0003 | a0006c0003t0001 | a0006c0003t0001g0092 | 1 | 398 | 0.0025 | 0 | c.85G others(2): Show |
p.Asp others(5): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 3/4 | 123/660 | 85/306 | 29/101 | chr19 | TogoVar | ||
APOC2_chr19_44941051_44954565 | 44948746 | C | T | missense_variant | MODERATE | HG00438.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0002 | 1 | 398 | 0.0025 | 0 | c.101 others(3): Show |
p.Pro others(5): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 3/4 | 139/660 | 101/306 | 34/101 | chr19 | TogoVar | ||
APOC2_chr19_44941051_44954565 | 44948763 | G | T | missense_variant | MODERATE | HG03041.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003 | 1 | 398 | 0.0025 | 0 | c.118 others(3): Show |
p.Val others(5): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 3/4 | 156/660 | 118/306 | 40/101 | chr19 | TogoVar | ||
APOC2_chr19_44941051_44954565 | 44948823 | G | A | missense_variant | MODERATE | HG02622.hp2 | a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0027 | 1 | 398 | 0.0025 | 0 | c.178 others(3): Show |
p.Glu others(5): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 3/4 | 216/660 | 178/306 | 60/101 | chr19 | TogoVar | ||
APOC2_chr19_44941051_44954565 | 44949172 | A | C | missense_variant | MODERATE | HG01243.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088a0002c0002t0001g0094 | 2 | 398 | 0.0050 | 0 | c.229 others(3): Show |
p.Lys others(5): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 4/4 | 267/660 | 229/306 | 77/101 | chr19 | TogoVar | ||
APOC3_chr11_116824907_116838072 | 116830844 | G | A | missense_variant | MODERATE | HG00642.hp2 HG03540.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0015a0002c0003t0001g0016 | 2 | 450 | 0.0044 | 0 | c.127 others(3): Show |
p.Ala others(5): Show |
APOC3 | ENSG00000110245.12 | transcript | ENST00000227667.8 | protein_coding | 3/4 | 174/535 | 127/300 | 43/99 | chr11 | TogoVar | ||
APOC3_chr11_116824907_116838072 | 116832864 | A | G | missense_variant | MODERATE | NA19011.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0019 | 1 | 450 | 0.0022 | 0 | c.280 others(3): Show |
p.Thr others(5): Show |
APOC3 | ENSG00000110245.12 | transcript | ENST00000227667.8 | protein_coding | 4/4 | 327/535 | 280/300 | 94/99 | chr11 | TogoVar | ||
APOC4_chr19_44937237_44950496 | 44942300 | T | A | missense_variant | MODERATE | HG02055.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0001 | 1 | 398 | 0.0025 | 0 | c.23T others(2): Show |
p.Leu others(4): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 1/3 | 64/616 | 23/384 | 8/127 | chr19 | TogoVar | ||
APOC4_chr19_44937237_44950496 | 44942329 | G | A | missense_variant | MODERATE | HG00621.hp2 NA18943.hp1 NA18955.hp2 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0004a0004c0005t0001g0009a0004c0005t0001g0015 | 5 | 398 | 0.0126 | 0 | c.52G others(2): Show |
p.Val others(5): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 1/3 | 93/616 | 52/384 | 18/127 | chr19 | TogoVar | ||
APOC4_chr19_44937237_44950496 | 44944779 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(282): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(41): Show | 285 | 398 | 0.7161 | 0 | c.107 others(3): Show |
p.Leu others(5): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 2/3 | 148/616 | 107/384 | 36/127 | chr19 | TogoVar | ||
APOC4_chr19_44937237_44950496 | 44945208 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(193): Show |
a0001a0005a0006 | a0001c0001a0001c0004a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(23): Show | 196 | 398 | 0.4925 | 0 | c.287 others(3): Show |
p.Leu others(5): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 3/3 | 328/616 | 287/384 | 96/127 | chr19 | TogoVar | ||
APOD_chr3_195563705_195588940 | 195568937 | G | T | missense_variant | MODERATE | HG02922.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0258 | 1 | 438 | 0.0023 | 0 | c.533 others(3): Show |
p.Thr others(6): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 5/5 | 630/862 | 533/570 | 178/189 | chr3 | TogoVar | ||
APOD_chr3_195563705_195588940 | 195569043 | C | T | missense_variant | MODERATE | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0101 | 1 | 438 | 0.0023 | 0 | c.427 others(3): Show |
p.Val others(6): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 5/5 | 524/862 | 427/570 | 143/189 | chr3 | TogoVar | ||
APOD_chr3_195563705_195588940 | 195579418 | A | G | missense_variant | MODERATE | HG00735.hp2 | a0004 | a0004c0002 | a0004c0002t0003 | a0004c0002t0003g0115 | 1 | 438 | 0.0023 | 0 | c.44T others(2): Show |
p.Phe others(5): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 2/5 | 141/862 | 44/570 | 15/189 | chr3 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44907768 | G | A | missense_variant | MODERATE | HG02165.hp1 | a0009 | a0009c0006 | a0009c0006t0001 | a0009c0006t0001g0001 | 1 | 424 | 0.0024 | 0 | c.52G others(2): Show |
p.Ala others(5): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 3/4 | 121/1166 | 52/954 | 18/317 | chr19 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44907777 | G | A | missense_variant | MODERATE | NA18984.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0001 | 1 | 424 | 0.0024 | 0 | c.61G others(2): Show |
p.Glu others(5): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 3/4 | 130/1166 | 61/954 | 21/317 | chr19 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44907807 | G | A | missense_variant | MODERATE | HG00738.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0007 | 1 | 424 | 0.0024 | 0 | c.91G others(2): Show |
p.Glu others(5): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 3/4 | 160/1166 | 91/954 | 31/317 | chr19 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44908684 | T | C | missense_variant | MODERATE | HG00323.hp1 HG00544.hp1 HG01069.hp2 others(50): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0008others(3): Show | 53 | 424 | 0.1250 | 0 | c.388 others(3): Show |
p.Cys others(6): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 4/4 | 457/1166 | 388/954 | 130/317 | chr19 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44908783 | C | T | missense_variant | MODERATE | HG00738.hp1 HG02109.hp2 HG02257.hp2 others(1): Show |
a0004a0007 | a0004c0004a0007c0008 | a0004c0004t0001a0007c0008t0001 | a0004c0004t0001g0007a0007c0008t0001g0007 | 4 | 424 | 0.0094 | 0 | c.487 others(3): Show |
p.Arg others(6): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 4/4 | 556/1166 | 487/954 | 163/317 | chr19 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44908822 | C | T | missense_variant | MODERATE | HG00738.hp2 HG01123.hp2 HG01168.hp2 others(32): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003a0003c0003t0001g0022 | 35 | 424 | 0.0826 | 0 | c.526 others(3): Show |
p.Arg others(6): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 4/4 | 595/1166 | 526/954 | 176/317 | chr19 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44908909 | C | G | missense_variant | MODERATE | NA19066.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0002 | 1 | 424 | 0.0024 | 0 | c.613 others(3): Show |
p.Gln others(6): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 4/4 | 682/1166 | 613/954 | 205/317 | chr19 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44909080 | G | A | missense_variant | MODERATE | HG00408.hp2 NA19002.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0002 | 2 | 424 | 0.0047 | 0 | c.784 others(3): Show |
p.Glu others(6): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 4/4 | 853/1166 | 784/954 | 262/317 | chr19 | TogoVar | ||
APOE_chr19_44900796_44914393 | 44909083 | G | A | missense_variant | MODERATE | HG00408.hp2 NA19002.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0002 | 2 | 424 | 0.0047 | 0 | c.787 others(3): Show |
p.Glu others(6): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 4/4 | 856/1166 | 787/954 | 263/317 | chr19 | TogoVar | ||
APOF_chr12_56355568_56367857 | 56361274 | A | G | missense_variant | MODERATE | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(58): Show |
a0002a0006 | a0002c0002a0002c0003a0002c0004others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(6): Show | a0002c0002t0001g0015a0002c0002t0002g0003a0002c0002t0004g0007others(6): Show | 61 | 278 | 0.2194 | 0 | c.932 others(3): Show |
p.Ile others(6): Show |
APOF | ENSG00000175336.10 | transcript | ENST00000398189.4 | protein_coding | 2/2 | 1044/1750 | 932/981 | 311/326 | chr12 | TogoVar | ||
APOF_chr12_56355568_56367857 | 56361487 | G | A | missense_variant | MODERATE | HG02273.hp2 | a0008 | a0008c0011 | a0008c0011t0003 | a0008c0011t0003g0024 | 1 | 278 | 0.0036 | 0 | c.719 others(3): Show |
p.Ala others(6): Show |
APOF | ENSG00000175336.10 | transcript | ENST00000398189.4 | protein_coding | 2/2 | 831/1750 | 719/981 | 240/326 | chr12 | TogoVar | ||
APOF_chr12_56355568_56367857 | 56361673 | G | C | missense_variant | MODERATE | HG01891.hp1 HG02040.hp1 HG02083.hp1 others(1): Show |
a0005a0006 | a0005c0008a0006c0007 | a0005c0008t0003a0006c0007t0002 | a0005c0008t0003g0016a0006c0007t0002g0014 | 4 | 278 | 0.0144 | 0 | c.533 others(3): Show |
p.Ala others(6): Show |
APOF | ENSG00000175336.10 | transcript | ENST00000398189.4 | protein_coding | 2/2 | 645/1750 | 533/981 | 178/326 | chr12 | TogoVar | ||
APOF_chr12_56355568_56367857 | 56361868 | C | T | missense_variant | MODERATE | HG00408.hp2 HG00558.hp1 HG02071.hp2 others(5): Show |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0003 | a0003c0005t0001g0006a0003c0005t0003g0009 | 8 | 278 | 0.0288 | 0 | c.338 others(3): Show |
p.Arg others(6): Show |
APOF | ENSG00000175336.10 | transcript | ENST00000398189.4 | protein_coding | 2/2 | 450/1750 | 338/981 | 113/326 | chr12 | TogoVar | ||
APOF_chr12_56355568_56367857 | 56361869 | G | C | missense_variant | MODERATE | HG01981.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0025 | 1 | 278 | 0.0036 | 0 | c.337 others(3): Show |
p.Arg others(6): Show |
APOF | ENSG00000175336.10 | transcript | ENST00000398189.4 | protein_coding | 2/2 | 449/1750 | 337/981 | 113/326 | chr12 | TogoVar | ||
APOF_chr12_56355568_56367857 | 56361907 | C | A | missense_variant | MODERATE | NA19087.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0026 | 1 | 278 | 0.0036 | 0 | c.299 others(3): Show |
p.Cys others(6): Show |
APOF | ENSG00000175336.10 | transcript | ENST00000398189.4 | protein_coding | 2/2 | 411/1750 | 299/981 | 100/326 | chr12 | TogoVar | ||
APOF_chr12_56355568_56367857 | 56362109 | G | T | missense_variant | MODERATE | HG02145.hp2 HG02451.hp2 HG02970.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0008 | 3 | 278 | 0.0108 | 0 | c.97C others(2): Show |
p.Pro others(5): Show |
APOF | ENSG00000175336.10 | transcript | ENST00000398189.4 | protein_coding | 2/2 | 209/1750 | 97/981 | 33/326 | chr12 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66212167 | C | G | missense_variant | MODERATE | HG00323.hp1 HG00438.hp2 HG00621.hp2 others(18): Show |
a0003a0009 | a0003c0003a0009c0009 | a0003c0003t0003a0009c0009t0001 | a0003c0003t0003g0007a0003c0003t0003g0008a0003c0003t0003g0033others(16): Show | 21 | 386 | 0.0544 | 0 | c.100 others(4): Show |
p.Trp others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 8/8 | 1040/1174 | 1004/1038 | 335/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66214462 | A | C | missense_variant | MODERATE | HG01069.hp2 HG01099.hp2 HG01123.hp1 others(5): Show |
a0006a0014 | a0006c0006a0014c0017 | a0006c0006t0002a0014c0017t0002 | a0006c0006t0002g0012a0006c0006t0002g0103a0006c0006t0002g0104others(4): Show | 8 | 386 | 0.0207 | 0 | c.973 others(3): Show |
p.Cys others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 7/8 | 1009/1174 | 973/1038 | 325/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66214639 | C | A | missense_variant | MODERATE | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(201): Show |
a0001a0007a0008others(5): Show | a0001c0001a0001c0010a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(185): Show | 204 | 386 | 0.5285 | 0 | c.796 others(3): Show |
p.Val others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 7/8 | 832/1174 | 796/1038 | 266/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66220592 | G | A | missense_variant | MODERATE | HG03209.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0162 | 1 | 386 | 0.0026 | 0 | c.566 others(3): Show |
p.Thr others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 5/8 | 602/1174 | 566/1038 | 189/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66220614 | C | T | missense_variant | MODERATE | HG04228.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0309 | 1 | 386 | 0.0026 | 0 | c.544 others(3): Show |
p.Gly others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 5/8 | 580/1174 | 544/1038 | 182/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66220679 | G | T | missense_variant | MODERATE | HG02965.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0340 | 1 | 386 | 0.0026 | 0 | c.479 others(3): Show |
p.Ala others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 5/8 | 515/1174 | 479/1038 | 160/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66220697 | C | T | missense_variant | MODERATE | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(28): Show |
a0003a0004a0012 | a0003c0003a0004c0004a0012c0013 | a0003c0003t0003a0004c0004t0003a0012c0013t0001 | a0003c0003t0003g0007a0003c0003t0003g0008a0003c0003t0003g0033others(22): Show | 31 | 386 | 0.0803 | 0 | c.461 others(3): Show |
p.Arg others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 5/8 | 497/1174 | 461/1038 | 154/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66220736 | A | G | missense_variant | MODERATE | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(28): Show |
a0003a0004a0012 | a0003c0003a0004c0004a0012c0013 | a0003c0003t0003a0004c0004t0003a0012c0013t0001 | a0003c0003t0003g0007a0003c0003t0003g0008a0003c0003t0003g0033others(22): Show | 31 | 386 | 0.0803 | 0 | c.422 others(3): Show |
p.Ile others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 5/8 | 458/1174 | 422/1038 | 141/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66226046 | C | T | missense_variant | MODERATE | HG00609.hp1 HG02080.hp1 HG02145.hp2 others(6): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0056a0005c0005t0002g0113a0005c0005t0002g0114others(6): Show | 9 | 386 | 0.0233 | 0 | c.320 others(3): Show |
p.Ser others(6): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/8 | 356/1174 | 320/1038 | 107/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66226094 | T | C | missense_variant | MODERATE | NA19067.hp1 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0319 | 1 | 386 | 0.0026 | 0 | c.272 others(3): Show |
p.Glu others(5): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/8 | 308/1174 | 272/1038 | 91/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66226115 | C | A | missense_variant | MODERATE | HG01069.hp2 | a0014 | a0014c0017 | a0014c0017t0002 | a0014c0017t0002g0107 | 1 | 386 | 0.0026 | 0 | c.251 others(3): Show |
p.Cys others(5): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/8 | 287/1174 | 251/1038 | 84/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66226119 | C | T | missense_variant | MODERATE | HG01069.hp2 | a0014 | a0014c0017 | a0014c0017t0002 | a0014c0017t0002g0107 | 1 | 386 | 0.0026 | 0 | c.247 others(3): Show |
p.Val others(5): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/8 | 283/1174 | 247/1038 | 83/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66228037 | T | C | missense_variant | MODERATE | HG01928.hp1 HG01952.hp1 HG01975.hp2 others(4): Show |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0248a0007c0007t0001g0249a0007c0007t0001g0250others(4): Show | 7 | 386 | 0.0181 | 0 | c.224 others(3): Show |
p.Asn others(5): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 2/8 | 260/1174 | 224/1038 | 75/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66228061 | G | C | missense_variant | MODERATE | HG02135.hp2 | a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0255 | 1 | 386 | 0.0026 | 0 | c.200 others(3): Show |
p.Pro others(5): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 2/8 | 236/1174 | 200/1038 | 67/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66229366 | A | G | missense_variant | MODERATE | NA18968.hp2 NA18983.hp2 NA19057.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0010a0008c0008t0001g0049a0008c0008t0001g0050others(2): Show | 6 | 386 | 0.0155 | 0 | c.14T others(2): Show |
p.Val others(4): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 1/8 | 50/1174 | 14/1038 | 5/345 | chr17 | TogoVar | ||
APOL1_chr22_36248133_36272525 | 36261694 | G | A | missense_variant | MODERATE | HG00099.hp1 HG01257.hp2 HG02723.hp1 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0001a0007c0007t0003a0007c0007t0006others(1): Show | a0007c0007t0001g0070a0007c0007t0003g0037a0007c0007t0006g0071others(1): Show | 5 | 414 | 0.0121 | 0 | c.286 others(3): Show |
p.Gly others(5): Show |
APOL1 | ENSG00000100342.22 | transcript | ENST00000397278.8 | protein_coding | 5/6 | 392/2795 | 286/1197 | 96/398 | chr22 | TogoVar | ||
APOL1_chr22_36248133_36272525 | 36265284 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0009a0007c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(142): Show | 285 | 414 | 0.6884 | 0 | c.448 others(3): Show |
p.Glu others(6): Show |
APOL1 | ENSG00000100342.22 | transcript | ENST00000397278.8 | protein_coding | 6/6 | 554/2795 | 448/1197 | 150/398 | chr22 | TogoVar | ||
APOL1_chr22_36248133_36272525 | 36265308 | C | T | missense_variant | MODERATE | HG03704.hp1 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0001 | 1 | 414 | 0.0024 | 0 | c.472 others(3): Show |
p.Leu others(6): Show |
APOL1 | ENSG00000100342.22 | transcript | ENST00000397278.8 | protein_coding | 6/6 | 578/2795 | 472/1197 | 158/398 | chr22 | TogoVar | ||
APOL1_chr22_36248133_36272525 | 36265363 | A | G | missense_variant | MODERATE | HG01243.hp2 HG02723.hp2 HG02818.hp2 others(7): Show |
a0006 | a0006c0006 | a0006c0006t0011a0006c0006t0014a0006c0006t0019 | a0006c0006t0011g0036a0006c0006t0011g0081a0006c0006t0011g0082others(6): Show | 10 | 414 | 0.0242 | 0 | c.527 others(3): Show |
p.Asn others(6): Show |
APOL1 | ENSG00000100342.22 | transcript | ENST00000397278.8 | protein_coding | 6/6 | 633/2795 | 527/1197 | 176/398 | chr22 | TogoVar | ||
APOL1_chr22_36248133_36272525 | 36265520 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0009a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(181): Show | 348 | 414 | 0.8406 | 0 | c.684 others(3): Show |
p.Met others(6): Show |
APOL1 | ENSG00000100342.22 | transcript | ENST00000397278.8 | protein_coding | 6/6 | 790/2795 | 684/1197 | 228/398 | chr22 | TogoVar |