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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(137): Show |
a0000 | a0000c0003a0000c0004a0000c0005others(2): Show | a0000c0003t0001a0000c0004t0001a0000c0005t0001others(2): Show | a0000c0003t0001g0002a0000c0003t0001g0005a0000c0003t0001g0008others(90): Show | 140 | 408 | 0.3431 | -1 | c.198 others(5): Show |
p.Leu others(5): Show |
ZNF233 | ENSG00000159915.13 | transcript | ENST00000683810.1 | protein_coding | 5/5 | 2083/2757 | 1983/2013 | 661/670 | chr19 | TogoVar | ||
ZNF414_chr19_8504678_8519167 | 8511858 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp2 HG01109.hp1 others(27): Show |
a0004a0005a0006 | a0004c0004a0004c0010a0005c0005others(2): Show | a0004c0004t0001a0004c0004t0012a0004c0010t0001others(8): Show | a0004c0004t0001g0008a0004c0004t0001g0015a0004c0004t0012g0045others(12): Show | 30 | 422 | 0.0711 | 1 | c.632 others(4): Show |
p.Ala others(5): Show |
ZNF414 | ENSG00000133250.14 | transcript | ENST00000393927.9 | protein_coding | 5/8 | 753/2307 | 632/1173 | 211/390 | chr19 | TogoVar | ||
ZNF419_chr19_57482750_57501098 | 57492212 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0002a0005 | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(32): Show | a0002c0002t0004g0003a0002c0002t0004g0028a0002c0002t0004g0029others(68): Show | 139 | 418 | 0.3325 | 0 | c.298 others(5): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0000 | a0000c0002a0000c0005a0000c0008others(4): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0006others(7): Show | a0000c0002t0002g0002a0000c0002t0002g0017a0000c0002t0002g0025others(33): Show | 109 | 410 | 0.2659 | 0 | c.201 others(4): Show |
p.Ter others(11): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 2122/2573 | 2015/2016 | 672/671 | chr19 | TogoVar | ||
ZNF469_chr16_88377959_88445753 | 88429937 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00597.hp2 HG01884.hp2 others(13): Show |
a0004a0037a0046others(3): Show | a0004c0030a0004c0098a0004c0099others(12): Show | a0004c0030t0002a0004c0098t0001a0004c0099t0002others(12): Show | a0004c0030t0002g0156a0004c0030t0002g0302a0004c0098t0001g0307others(13): Show | 16 | 354 | 0.0452 | 1 | c.247 others(5): Show |
p.Phe others(5): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 3/3 | 2960/13770 | 2473/11862 | 825/3953 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
ZNF492_chr19_22629324_22672671 | 22634474 | GGT | G | splice_donor_variant others(2): Show |
HIGH | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(36): Show |
a0004a0006a0007others(2): Show | a0004c0004a0006c0006a0007c0007others(2): Show | a0004c0004t0006a0004c0004t0007a0004c0004t0008others(9): Show | a0004c0004t0006g0046a0004c0004t0006g0049a0004c0004t0006g0050others(36): Show | 39 | 366 | 0.1066 | -2 | c.-94 others(13): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF579_chr19_55571774_55585848 | 55578176 | C | CG | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(114): Show |
a0004a0005a0006others(8): Show | a0004c0004a0005c0008a0005c0010others(14): Show | a0004c0004t0001a0005c0008t0001a0005c0008t0006others(18): Show | a0004c0004t0001g0002a0004c0004t0001g0037a0005c0008t0001g0007others(24): Show | 117 | 416 | 0.2813 | 1 | c.146 others(5): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1519/2922 | 1463/1689 | 488/562 | chr19 | TogoVar | ||
ZNF579_chr19_55571774_55585848 | 55578249 | C | CG | frameshift_variant | HIGH | HG00673.hp1 HG01358.hp2 HG01928.hp1 others(8): Show |
a0012a0017a0022others(4): Show | a0012c0016a0017c0026a0022c0036others(4): Show | a0012c0016t0001a0017c0026t0001a0022c0036t0002others(4): Show | a0012c0016t0001g0018a0017c0026t0001g0028a0022c0036t0002g0048others(4): Show | 11 | 416 | 0.0264 | 1 | c.139 others(5): Show |
p.Arg others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1446/2922 | 1390/1689 | 464/562 | chr19 | TogoVar | ||
ZNF628_chr19_55471617_55489487 | 55482009 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00642.hp1 others(29): Show |
a0004a0008a0033others(3): Show | a0004c0015a0004c0017a0004c0024others(20): Show | a0004c0015t0001a0004c0017t0001a0004c0024t0001others(20): Show | a0004c0015t0001g0001a0004c0015t0001g0007a0004c0015t0001g0017others(28): Show | 32 | 422 | 0.0758 | 1 | c.821 others(4): Show |
p.Pro others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1090/3562 | 822/3180 | 274/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF697_chr1_119614377_119653266 | 119623303 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(24): Show |
a0002a0003a0011 | a0002c0003a0003c0005a0003c0011others(1): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(18): Show | a0002c0003t0002g0197a0002c0003t0002g0221a0002c0003t0002g0232others(24): Show | 27 | 394 | 0.0685 | 1 | c.103 others(5): Show |
p.Ala others(5): Show |
ZNF697 | ENSG00000143067.5 | transcript | ENST00000421812.3 | protein_coding | 3/3 | 1652/5579 | 1039/1638 | 347/545 | chr1 | TogoVar | ||
ZNF718_chr4_119501_169162 | 127124 | GAAAATTT others(6135): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(159): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(117): Show | 162 | 330 | 0.4909 | -6142 | c.3+2 others(15): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF746_chr7_149467794_149502809 | 149474858 | A | AC | frameshift_variant | HIGH | HG00642.hp1 HG01099.hp1 HG01175.hp2 others(13): Show |
a0002a0009 | a0002c0006a0002c0008a0002c0011others(3): Show | a0002c0006t0001a0002c0006t0002a0002c0008t0001others(4): Show | a0002c0006t0001g0108a0002c0006t0001g0110a0002c0006t0001g0199others(13): Show | 16 | 424 | 0.0377 | 1 | c.150 others(5): Show |
p.Gly others(5): Show |
ZNF746 | ENSG00000181220.18 | transcript | ENST00000458143.7 | protein_coding | 7/7 | 1781/3846 | 1508/1983 | 503/660 | chr7 | TogoVar | ||
ZNF80_chr3_114229631_114242578 | 114236879 | G | A | stop_gained | HIGH | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(5): Show |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0000 | 8 | 426 | 0.0188 | 0 | c.196 others(3): Show |
p.Arg others(3): Show |
ZNF80 | ENSG00000174255.8 | transcript | ENST00000482457.4 | protein_coding | 1/1 | 700/2948 | 196/822 | 66/273 | chr3 | TogoVar | ||
ZNF83_chr19_52607377_52643355 | 52613558 | C | T | stop_gained | HIGH | HG02896.hp2 HG03098.hp1 HG03471.hp2 |
a0008 | a0008c0009 | a0008c0009t0004 | a0008c0009t0004g0075a0008c0009t0004g0076a0008c0009t0004g0209 | 3 | 460 | 0.0065 | 0 | c.100 others(4): Show |
p.Trp others(4): Show |
ZNF83 | ENSG00000167766.21 | transcript | ENST00000301096.8 | protein_coding | 3/3 | 1372/2553 | 1007/1551 | 336/516 | chr19 | TogoVar | ||
ZNF865_chr19_55600647_55622269 | 55614531 | A | AC | frameshift_variant | HIGH | HG01255.hp1 HG02572.hp2 HG03098.hp1 others(3): Show |
a0004a0011a0012 | a0004c0008a0011c0017a0012c0016 | a0004c0008t0001a0011c0017t0001a0012c0016t0001 | a0004c0008t0001g0001a0004c0008t0001g0002a0004c0008t0001g0048others(3): Show | 6 | 430 | 0.0140 | 1 | c.915 others(4): Show |
p.Ala others(5): Show |
ZNF865 | ENSG00000261221.5 | transcript | ENST00000568956.2 | protein_coding | 2/2 | 1028/3763 | 916/3180 | 306/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(460): Show |
frameshift_variant others(1): Show |
HIGH | HG00738.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
a0002a0007a0008 | a0002c0027a0007c0008a0008c0009 | a0002c0027t0007a0007c0008t0001a0008c0009t0001 | a0002c0027t0007g0196a0007c0008t0001g0062a0007c0008t0001g0063others(3): Show | 9 | 458 | 0.0197 | 467 | c.123 others(476): Show |
p.Cys others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 1281/2258 | 1238/1734 | 413/577 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNG1C_chr9_68236983_68305035 | 68256920 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(284): Show | 295 | 322 | 0.9162 | 0 | c.431 others(5): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 4/14 | chr9 | TogoVar | ||||||
ZNG1C_chr9_68236983_68305035 | 68285995 | G | GA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(215): Show | 223 | 322 | 0.6926 | 1 | c.777 others(4): Show |
p.Leu others(5): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 11/15 | 827/1685 | 778/1188 | 260/395 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |