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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF474_chr5_122124546_122158569 | 122151705 | A | ATGTCTGT others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01255.hp2 HG01978.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0225 a0001c0001t0001g0243 others(10): Show |
13 | 226 | 0.0575 | 14 | c.-21 others(29): Show |
ZNF474 | ENSG00000164185.7 | transcript | ENST00000296600.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZNF479_chr7_57112676_57137436 | 57135973 | A | ATCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0012 | a0001c0012t0008 | a0001c0012t0008g0121 | 1 | 104 | 0.0096 | 14 | c.-36 others(25): Show |
ZNF479 | ENSG00000185177.14 | transcript | ENST00000319636.10 | protein_coding | 3538 | chr7 | TogoVar | |||||||
ZNF480_chr19_52292169_52330922 | 52297061 | G | GCCCCCCG others(7): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 327 | 0.0031 | 14 | c.-18 others(23): Show |
ZNF480 | ENSG00000198464.14 | transcript | ENST00000595962.6 | protein_coding | 107 | chr19 | TogoVar | |||||||
ZNF483_chr9_111520179_111560417 | 111530756 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0054 | a0001c0001t0001g0189 a0001c0001t0054g0190 |
2 | 209 | 0.0096 | 14 | c.413 others(27): Show |
ZNF483 | ENSG00000173258.13 | transcript | ENST00000309235.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF486_chr19_20162214_20205488 | 20175331 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03688.hp2 NA19011.hp2 NA19074.hp2 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0025 | a0001c0001t0001g0227 a0001c0001t0001g0228 a0005c0010t0025g0177 |
3 | 173 | 0.0173 | 14 | c.30+ others(29): Show |
ZNF486 | ENSG00000256229.8 | transcript | ENST00000335117.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF486_chr19_20162214_20205488 | 20177935 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01433.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0028 a0002c0003t0005g0051 a0002c0003t0005g0070 |
4 | 363 | 0.0110 | 14 | c.31- others(29): Show |
ZNF486 | ENSG00000256229.8 | transcript | ENST00000335117.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF487_chr10_43432111_43488181 | 43441034 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0136 | 1 | 7 | 0.1429 | 14 | c.-94 others(31): Show |
ZNF487 | ENSG00000243660.12 | transcript | ENST00000437590.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ZNF487_chr10_43432111_43488181 | 43447251 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03669.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 a0001c0002t0001g0289 |
2 | 330 | 0.0061 | 14 | c.-94 others(31): Show |
ZNF487 | ENSG00000243660.12 | transcript | ENST00000437590.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ZNF487_chr10_43432111_43488181 | 43487929 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0078 |
2 | 152 | 0.0132 | 14 | c.*60 others(25): Show |
ZNF487 | ENSG00000243660.12 | transcript | ENST00000437590.4 | protein_coding | 4749 | chr10 | TogoVar | |||||||
ZNF488_chr10_47360496_47389293 | 47377671 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 30 | 0.0333 | 14 | c.-10 others(33): Show |
ZNF488 | ENSG00000265763.4 | transcript | ENST00000585316.3 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
ZNF490_chr19_12571100_12615813 | 12602079 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG03942.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0017 a0001c0001t0004g0087 a0001c0001t0004g0088 others(3): Show |
6 | 159 | 0.0377 | 14 | c.162 others(31): Show |
ZNF490 | ENSG00000188033.10 | transcript | ENST00000311437.11 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF490_chr19_12571100_12615813 | 12602127 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0042 | 1 | 194 | 0.0052 | 14 | c.162 others(31): Show |
ZNF490 | ENSG00000188033.10 | transcript | ENST00000311437.11 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF490_chr19_12571100_12615813 | 12604360 | A | AATTAGCA others(7): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0006 | a0001c0006t0026 | a0001c0006t0026g0190 | 1 | 364 | 0.0027 | 14 | c.162 others(31): Show |
ZNF490 | ENSG00000188033.10 | transcript | ENST00000311437.11 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF491_chr19_11793523_11813503 | 11811947 | A | AGAGAGAG others(7): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0069 | 1 | 306 | 0.0033 | 14 | c.*46 others(25): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3445 | chr19 | TogoVar | |||||||
ZNF492_chr19_22629324_22672671 | 22636514 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01934.hp1 HG03688.hp2 others(3): Show |
a0001a0003a0010others(1): Show | a0001c0001a0003c0003a0010c0018others(1): Show | a0001c0001t0001a0003c0003t0001a0010c0018t0001others(1): Show | a0001c0001t0001g0008 a0003c0003t0001g0008 a0003c0003t0001g0107 others(2): Show |
6 | 136 | 0.0441 | 14 | c.-94 others(31): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF492_chr19_22629324_22672671 | 22647727 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0005 | a0005c0005 | a0005c0005t0014 | a0005c0005t0014g0070 | 1 | 228 | 0.0044 | 14 | c.-93 others(31): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF492_chr19_22629324_22672671 | 22652221 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0127 a0001c0001t0026g0126 |
2 | 165 | 0.0121 | 14 | c.-93 others(31): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF492_chr19_22629324_22672671 | 22655675 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00735.hp1 others(21): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0002a0002c0002t0035a0002c0002t0036others(1): Show | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0010 others(11): Show |
24 | 220 | 0.1091 | 14 | c.130 others(31): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF493_chr19_21392133_21432577 | 21410060 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 276 | 0.0036 | 14 | c.253 others(31): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF493_chr19_21392133_21432577 | 21420591 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01952.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(3): Show | a0001c0001t0002g0004 a0001c0001t0002g0203 a0001c0001t0002g0228 others(5): Show |
8 | 287 | 0.0279 | 14 | c.254 others(31): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF493_chr19_21392133_21432577 | 21420623 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02293.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0256 a0001c0001t0005g0185 |
2 | 240 | 0.0083 | 14 | c.254 others(31): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF493_chr19_21392133_21432577 | 21420623 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 239 | 0.0042 | 14 | c.254 others(31): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF493_chr19_21392133_21432577 | 21420623 | A | ATATATTT others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 239 | 0.0042 | 14 | c.254 others(31): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF496_chr1_247292415_247336867 | 247311430 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18982.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0029 a0001c0001t0003g0020 a0001c0001t0003g0206 |
3 | 46 | 0.0652 | 14 | c.652 others(29): Show |
ZNF496 | ENSG00000162714.13 | transcript | ENST00000682384.1 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
ZNF506_chr19_19787711_19826750 | 19808108 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0005 | a0001c0001t0003g0287 a0002c0002t0005g0261 |
2 | 24 | 0.0833 | 14 | c.4-1 others(27): Show |
ZNF506 | ENSG00000081665.14 | transcript | ENST00000540806.7 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ZNF507_chr19_32340610_32392667 | 32341405 | A | ATTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00639.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0012others(3): Show | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0002t0004g0003 others(11): Show |
18 | 47 | 0.3830 | 14 | c.-44 others(25): Show |
ZNF507 | ENSG00000168813.17 | transcript | ENST00000355898.6 | protein_coding | 4204 | chr19 | TogoVar | |||||||
ZNF507_chr19_32340610_32392667 | 32351419 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01361.hp2 HG02735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0088 a0001c0001t0003g0127 a0001c0001t0003g0128 others(2): Show |
6 | 40 | 0.1500 | 14 | c.-2- others(29): Show |
ZNF507 | ENSG00000168813.17 | transcript | ENST00000355898.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF507_chr19_32340610_32392667 | 32351533 | C | CGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01433.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0035 | a0001c0001t0001g0008 a0001c0001t0001g0141 a0001c0001t0001g0155 others(6): Show |
9 | 84 | 0.1071 | 14 | c.-2- others(29): Show |
ZNF507 | ENSG00000168813.17 | transcript | ENST00000355898.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF507_chr19_32340610_32392667 | 32374169 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01099.hp2 HG01258.hp1 others(38): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0003a0001c0001t0009a0001c0001t0020others(3): Show | a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(35): Show |
41 | 93 | 0.4409 | 14 | c.236 others(33): Show |
ZNF507 | ENSG00000168813.17 | transcript | ENST00000355898.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF507_chr19_32340610_32392667 | 32374188 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 348 | 0.0029 | 14 | c.236 others(33): Show |
ZNF507 | ENSG00000168813.17 | transcript | ENST00000355898.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF510_chr9_96749553_96783087 | 96751165 | G | GAACTGGA others(7): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 |
2 | 296 | 0.0068 | 14 | c.*76 others(25): Show |
ZNF510 | ENSG00000081386.13 | transcript | ENST00000223428.9 | protein_coding | 3387 | chr9 | TogoVar | |||||||
ZNF510_chr9_96749553_96783087 | 96769437 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02970.hp2 |
a0006 | a0006c0010 | a0006c0010t0013 | a0006c0010t0013g0037 a0006c0010t0013g0039 |
2 | 251 | 0.0080 | 14 | c.129 others(31): Show |
ZNF510 | ENSG00000081386.13 | transcript | ENST00000223428.9 | protein_coding | 3/5 | chr9 | TogoVar | |||||||
ZNF510_chr9_96749553_96783087 | 96781310 | G | GTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG02071.hp2 HG02080.hp2 others(13): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0029 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(7): Show |
16 | 20 | 0.8000 | 14 | c.-34 others(25): Show |
ZNF510 | ENSG00000081386.13 | transcript | ENST00000223428.9 | protein_coding | 3224 | chr9 | TogoVar | |||||||
ZNF512_chr2_27578042_27628217 | 27603586 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0051 | 1 | 201 | 0.0050 | 14 | c.936 others(29): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27603586 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02735.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0058 a0001c0001t0002g0073 |
3 | 203 | 0.0148 | 14 | c.936 others(29): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27610544 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02040.hp1 HG03239.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0002a0002c0004t0002a0003c0005t0002 | a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0024 others(14): Show |
17 | 199 | 0.0854 | 14 | c.113 others(33): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27610544 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 a0001c0001t0002g0055 |
2 | 184 | 0.0109 | 14 | c.113 others(33): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27610544 | G | GTGTGTGC others(7): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0228 a0001c0003t0001g0271 a0001c0003t0001g0272 others(1): Show |
4 | 186 | 0.0215 | 14 | c.113 others(33): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27610544 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 a0001c0001t0002g0045 |
2 | 184 | 0.0109 | 14 | c.113 others(33): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF512_chr2_27578042_27628217 | 27610581 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0277 | 1 | 206 | 0.0049 | 14 | c.113 others(33): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 10/13 | chr2 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76360644 | A | AATATATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0004 | a0004c0017 | a0004c0017t0069 | a0004c0017t0069g0305 | 1 | 328 | 0.0030 | 14 | c.*18 others(25): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 7/7 | 1853 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76360646 | A | AAAAAATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0157 | a0002c0003t0157g0080 | 1 | 269 | 0.0037 | 14 | c.*18 others(25): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 7/7 | 1851 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76437067 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG00741.hp1 others(63): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0089 others(63): Show |
66 | 75 | 0.8800 | 14 | c.181 others(33): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76440761 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0070 | a0002c0003t0070g0220 | 1 | 108 | 0.0093 | 14 | c.181 others(31): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76440761 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03195.hp1 |
a0003 | a0003c0007a0003c0048 | a0003c0007t0091a0003c0048t0030 | a0003c0007t0091g0111 a0003c0048t0030g0039 |
2 | 109 | 0.0183 | 14 | c.181 others(31): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76480524 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 137 | 0.0073 | 14 | c.-27 others(35): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76491540 | C | CGGGGGCG others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01361.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0007a0003c0048 | a0001c0001t0001a0003c0007t0002a0003c0007t0024others(2): Show | a0001c0001t0001g0300 a0003c0007t0002g0301 a0003c0007t0024g0338 others(3): Show |
6 | 338 | 0.0178 | 14 | c.-27 others(33): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76491552 | G | GCGGGGGG others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0054 | a0002c0054t0037 | a0002c0054t0037g0103 | 1 | 344 | 0.0029 | 14 | c.-27 others(33): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ZNF517_chr8_144793913_144815084 | 144807497 | G | GGCACCAG others(7): Show |
frameshift_variant | HIGH | NA18747.hp1 NA18990.hp1 |
a0006 | a0006c0010 | a0006c0010t0018 | a0006c0010t0018g0002 | 2 | 406 | 0.0049 | 14 | c.582 others(21): Show |
p.His others(5): Show |
ZNF517 | ENSG00000197363.11 | transcript | ENST00000359971.4 | protein_coding | 5/5 | 666/3238 | 596/1479 | 199/492 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
ZNF517_chr8_144793913_144815084 | 144809713 | G | GGCAGTCG others(7): Show |
3_prime_UTR_variant | MODIFIER | NA19074.hp2 | a0011 | a0011c0014 | a0011c0014t0040 | a0011c0014t0040g0001 | 1 | 406 | 0.0025 | 14 | c.*13 others(25): Show |
ZNF517 | ENSG00000197363.11 | transcript | ENST00000359971.4 | protein_coding | 5/5 | 1320 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |