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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF492_chr19_22629324_22672671 | 22647607 | A | ATTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(103): Show |
a0002a0004a0005others(6): Show | a0002c0002a0002c0013a0004c0004others(7): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0037others(20): Show | a0002c0002t0003g0003 a0002c0002t0003g0007 a0002c0002t0003g0008 others(90): Show |
106 | 366 | 0.2896 | 3 | c.-93 others(20): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF492_chr19_22629324_22672671 | 22653620 | C | CTGA | intron_variant | MODIFIER | HG00597.hp1 NA18951.hp1 NA19064.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0031 a0001c0001t0010g0215 a0001c0001t0010g0283 |
4 | 366 | 0.0109 | 3 | c.34+ others(16): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF493_chr19_21392133_21432577 | 21394138 | T | TAGA | upstream_gene_variant | MODIFIER | HG02132.hp1 NA18940.hp2 NA18946.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0096 others(1): Show |
4 | 360 | 0.0111 | 3 | c.-31 others(14): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 2994 | chr19 | TogoVar | |||||||
ZNF493_chr19_21392133_21432577 | 21395150 | C | CTTT | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG02922.hp1 others(7): Show |
a0002a0004a0012 | a0002c0002a0004c0005a0012c0017 | a0002c0002t0002a0002c0002t0005a0002c0002t0024others(2): Show | a0002c0002t0002g0286 a0002c0002t0005g0186 a0002c0002t0005g0214 others(7): Show |
10 | 360 | 0.0278 | 3 | c.-20 others(14): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 1982 | chr19 | TogoVar | |||||||
ZNF493_chr19_21392133_21432577 | 21405907 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(151): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0013a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(139): Show |
154 | 360 | 0.4278 | 3 | c.253 others(16): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF493_chr19_21392133_21432577 | 21420623 | A | ATAT | intron_variant | MODIFIER | HG01168.hp2 HG01256.hp1 HG01258.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0015a0003c0003t0006 | a0001c0001t0001g0021 a0001c0001t0001g0105 a0001c0001t0001g0129 others(3): Show |
8 | 360 | 0.0222 | 3 | c.254 others(20): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF493_chr19_21392133_21432577 | 21420624 | T | TATA | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 HG03491.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0005 | a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0075 others(4): Show |
7 | 360 | 0.0194 | 3 | c.254 others(20): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF493_chr19_21392133_21432577 | 21429034 | C | CGTT | downstream_gene_variant | MODIFIER | HG02965.hp2 HG03209.hp2 HG03516.hp2 |
a0004 | a0004c0005 | a0004c0005t0013 | a0004c0005t0013g0225 a0004c0005t0013g0226 a0004c0005t0013g0232 |
3 | 360 | 0.0083 | 3 | c.*40 others(14): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 1458 | chr19 | TogoVar | |||||||
ZNF497_chr19_58349357_58367751 | 58358637 | T | TGAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(189): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0011t0016others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(51): Show |
192 | 410 | 0.4683 | 3 | c.-11 others(18): Show |
ZNF497 | ENSG00000174586.11 | transcript | ENST00000311044.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZNF497_chr19_58349357_58367751 | 58363470 | C | CAAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(68): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0011c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(24): Show |
71 | 410 | 0.1732 | 3 | c.-90 others(12): Show |
ZNF497 | ENSG00000174586.11 | transcript | ENST00000311044.8 | protein_coding | 720 | chr19 | TogoVar | |||||||
ZNF497_chr19_58349357_58367751 | 58364844 | T | TGTG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0011a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(118): Show |
359 | 410 | 0.8756 | 3 | c.-22 others(14): Show |
ZNF497 | ENSG00000174586.11 | transcript | ENST00000311044.8 | protein_coding | 2094 | chr19 | TogoVar | |||||||
ZNF501_chr3_44724635_44742083 | 44726420 | T | TAAA | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02280.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0003a0003c0003t0004 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0002c0002t0003g0002 others(1): Show |
6 | 352 | 0.0171 | 3 | c.-39 others(14): Show |
ZNF501 | ENSG00000186446.12 | transcript | ENST00000620116.5 | protein_coding | 3214 | chr3 | TogoVar | |||||||
ZNF502_chr3_44707660_44728831 | 44713780 | G | GTGT | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp2 HG02976.hp1 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0002a0004c0005t0005a0004c0005t0006 | a0004c0005t0002g0068 a0004c0005t0005g0015 a0004c0005t0006g0015 others(2): Show |
6 | 364 | 0.0165 | 3 | c.-60 others(20): Show |
ZNF502 | ENSG00000196653.12 | transcript | ENST00000436624.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ZNF502_chr3_44707660_44728831 | 44723863 | T | TTTG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02071.hp1 HG02129.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0051 others(1): Show |
11 | 364 | 0.0302 | 3 | c.*14 others(14): Show |
ZNF502 | ENSG00000196653.12 | transcript | ENST00000436624.7 | protein_coding | 33 | chr3 | TogoVar | |||||||
ZNF502_chr3_44707660_44728831 | 44723869 | T | TTTG | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0012 a0002c0002t0002g0022 a0002c0002t0003g0012 others(4): Show |
9 | 364 | 0.0247 | 3 | c.*14 others(14): Show |
ZNF502 | ENSG00000196653.12 | transcript | ENST00000436624.7 | protein_coding | 39 | chr3 | TogoVar | |||||||
ZNF502_chr3_44707660_44728831 | 44726420 | T | TAAA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02280.hp2 others(3): Show |
a0002a0004a0006 | a0002c0002a0004c0005a0006c0007 | a0002c0002t0002a0002c0002t0005a0004c0005t0005others(2): Show | a0002c0002t0002g0002 a0002c0002t0005g0054 a0002c0002t0005g0064 others(3): Show |
6 | 364 | 0.0165 | 3 | c.*39 others(14): Show |
ZNF502 | ENSG00000196653.12 | transcript | ENST00000436624.7 | protein_coding | 2590 | chr3 | TogoVar | |||||||
ZNF506_chr19_19787711_19826750 | 19789443 | A | ATTT | downstream_gene_variant | MODIFIER | HG02004.hp2 HG02040.hp2 HG02451.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0197 a0001c0001t0003g0175 a0001c0001t0004g0003 others(30): Show |
39 | 418 | 0.0933 | 3 | c.*51 others(14): Show |
ZNF506 | ENSG00000081665.14 | transcript | ENST00000540806.7 | protein_coding | 3267 | chr19 | TogoVar | |||||||
ZNF506_chr19_19787711_19826750 | 19798654 | C | CAAA | intron_variant | MODIFIER | HG01256.hp1 HG01358.hp1 HG01433.hp1 others(19): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0049 a0001c0001t0001g0089 a0001c0001t0001g0091 others(19): Show |
22 | 418 | 0.0526 | 3 | c.227 others(20): Show |
ZNF506 | ENSG00000081665.14 | transcript | ENST00000540806.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF506_chr19_19787711_19826750 | 19808843 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01167.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0002g0208 a0001c0001t0003g0216 a0001c0001t0007g0361 others(11): Show |
14 | 418 | 0.0335 | 3 | c.4-1 others(16): Show |
ZNF506 | ENSG00000081665.14 | transcript | ENST00000540806.7 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ZNF507_chr19_32340610_32392667 | 32341405 | A | ATTT | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03453.hp1 HG03516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 others(2): Show |
6 | 364 | 0.0165 | 3 | c.-44 others(14): Show |
ZNF507 | ENSG00000168813.17 | transcript | ENST00000355898.6 | protein_coding | 4204 | chr19 | TogoVar | |||||||
ZNF510_chr9_96749553_96783087 | 96765116 | A | AAAC | intron_variant | MODIFIER | HG00280.hp2 HG02129.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 3 | 298 | 0.0101 | 3 | c.130 others(20): Show |
ZNF510 | ENSG00000081386.13 | transcript | ENST00000223428.9 | protein_coding | 3/5 | chr9 | TogoVar | |||||||
ZNF510_chr9_96749553_96783087 | 96771431 | T | TAAA | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02970.hp2 |
a0006 | a0006c0010 | a0006c0010t0013 | a0006c0010t0013g0037 a0006c0010t0013g0038 a0006c0010t0013g0039 |
3 | 298 | 0.0101 | 3 | c.129 others(20): Show |
ZNF510 | ENSG00000081386.13 | transcript | ENST00000223428.9 | protein_coding | 3/5 | chr9 | TogoVar | |||||||
ZNF510_chr9_96749553_96783087 | 96778527 | G | GTTT | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03041.hp2 HG03516.hp1 others(7): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0005 | a0001c0003t0001a0002c0002t0002a0004c0005t0004 | a0001c0003t0001g0011 a0001c0003t0001g0064 a0002c0002t0002g0001 others(3): Show |
10 | 298 | 0.0336 | 3 | c.-67 others(12): Show |
ZNF510 | ENSG00000081386.13 | transcript | ENST00000223428.9 | protein_coding | 441 | chr9 | TogoVar | |||||||
ZNF510_chr9_96749553_96783087 | 96782251 | T | TGTG | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00621.hp1 others(111): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0007a0001c0013others(13): Show | a0001c0003t0001a0001c0003t0005a0001c0003t0011others(19): Show | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0022 others(53): Show |
114 | 298 | 0.3826 | 3 | c.-43 others(14): Show |
ZNF510 | ENSG00000081386.13 | transcript | ENST00000223428.9 | protein_coding | 4165 | chr9 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63960970 | T | TGCA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02896.hp1 others(2): Show |
a0003 | a0003c0008a0003c0011 | a0003c0008t0004a0003c0011t0004 | a0003c0008t0004g0024 a0003c0011t0004g0158 a0003c0011t0004g0159 |
5 | 356 | 0.0140 | 3 | c.242 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 16/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63964965 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0153 others(2): Show |
5 | 356 | 0.0140 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965008 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(3): Show |
6 | 356 | 0.0169 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965097 | T | TTCC | intron_variant | MODIFIER | HG02258.hp1 HG02738.hp1 HG03654.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0106 a0001c0002t0005g0150 a0001c0002t0005g0151 others(4): Show |
7 | 356 | 0.0197 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965140 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(3): Show |
6 | 356 | 0.0169 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965183 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(3): Show |
6 | 356 | 0.0169 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965226 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(3): Show |
6 | 356 | 0.0169 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965269 | T | TTCC | intron_variant | MODIFIER | HG01167.hp2 HG02738.hp1 HG03654.hp1 others(4): Show |
a0001a0006 | a0001c0002a0006c0015 | a0001c0002t0005a0006c0015t0004 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(4): Show |
7 | 356 | 0.0197 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965312 | T | TTCC | intron_variant | MODIFIER | HG03654.hp1 HG03927.hp1 HG03942.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(2): Show |
5 | 356 | 0.0140 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965355 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03942.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(2): Show |
5 | 356 | 0.0140 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965398 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(3): Show |
6 | 356 | 0.0169 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965441 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(2): Show |
5 | 356 | 0.0140 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965484 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(3): Show |
6 | 356 | 0.0169 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965665 | T | TTCC | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0021 a0001c0002t0005g0150 a0001c0002t0005g0151 others(4): Show |
9 | 356 | 0.0253 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965846 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0151 a0001c0002t0005g0152 a0001c0002t0005g0153 others(2): Show |
5 | 356 | 0.0140 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965889 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0152 others(3): Show |
6 | 356 | 0.0169 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965932 | T | TTCC | intron_variant | MODIFIER | HG02738.hp1 HG03927.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 a0001c0002t0005g0166 a0001c0002t0005g0167 |
3 | 356 | 0.0084 | 3 | c.103 others(20): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF512_chr2_27578042_27628217 | 27586214 | T | TTTG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00673.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(3): Show | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0001 others(91): Show |
97 | 332 | 0.2922 | 3 | c.89+ others(18): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27598829 | T | TTTC | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(3): Show | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0003t0001g0013 others(25): Show |
28 | 332 | 0.0843 | 3 | c.277 others(18): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27603590 | A | ATTT | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(7): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0001 | a0001c0003t0001g0014 a0001c0003t0001g0123 a0001c0003t0001g0124 others(7): Show |
10 | 332 | 0.0301 | 3 | c.936 others(18): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27610581 | T | TACA | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01167.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 a0001c0001t0002g0057 a0001c0001t0002g0063 others(10): Show |
13 | 332 | 0.0392 | 3 | c.113 others(22): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 10/13 | chr2 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76356308 | C | CAGA | downstream_gene_variant | MODIFIER | HG02071.hp2 NA18949.hp1 NA19054.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0002a0001c0001t0030a0001c0012t0013others(1): Show | a0001c0001t0002g0115 a0001c0001t0030g0230 a0001c0012t0013g0208 others(1): Show |
4 | 346 | 0.0116 | 3 | c.*61 others(14): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 1373 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76360794 | C | CAAT | 3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG01261.hp1 HG01515.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0030a0001c0001t0031a0001c0001t0073others(11): Show | a0001c0001t0030g0230 a0001c0001t0030g0310 a0001c0001t0031g0203 others(13): Show |
16 | 346 | 0.0462 | 3 | c.*17 others(14): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 7/7 | 1703 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76401775 | T | TCCA | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02809.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0072a0001c0006t0058a0001c0006t0061 | a0001c0004t0072g0113 a0001c0006t0058g0104 a0001c0006t0061g0112 |
3 | 346 | 0.0087 | 3 | c.181 others(24): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76401838 | T | TCCA | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG03579.hp1 |
a0001a0007 | a0001c0005a0001c0017a0007c0057 | a0001c0005t0027a0001c0017t0029a0007c0057t0199 | a0001c0005t0027g0019 a0001c0017t0029g0129 a0007c0057t0199g0012 |
3 | 346 | 0.0087 | 3 | c.181 others(24): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76450183 | A | AAGG | intron_variant | MODIFIER | NA18948.hp2 NA19001.hp1 NA19057.hp2 |
a0001a0024 | a0001c0001a0024c0025 | a0001c0001t0009a0001c0001t0010a0024c0025t0043 | a0001c0001t0009g0334 a0001c0001t0010g0255 a0024c0025t0043g0329 |
3 | 346 | 0.0087 | 3 | c.-15 others(22): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 2/6 | chr18 | TogoVar |