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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VEGFD_chrX_15340596_15389413 | 15358169 | G | GT | frameshift_variant | HIGH | NA18974.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0256 | 1 | 302 | 0.0033 | 1 | c.325 others(4): Show |
p.Thr others(5): Show |
VEGFD | ENSG00000165197.5 | transcript | ENST00000297904.4 | protein_coding | 3/7 | 792/2069 | 325/1065 | 109/354 | chrX | TogoVar | ||
WDR44_chrX_118341106_118454961 | 118395295 | TG | T | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0164 | 1 | 293 | 0.0034 | -1 | c.100 others(5): Show |
p.Gly others(5): Show |
WDR44 | ENSG00000131725.14 | transcript | ENST00000254029.8 | protein_coding | 6/20 | 1405/4114 | 1007/2742 | 336/913 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
WWTR1_chr3_149512235_149663025 | 149520808 | C | CTTAA | frameshift_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp1 HG01167.hp2 others(40): Show |
a0001a0002a0007 | a0001c0002a0002c0004a0007c0007 | a0001c0002t0003a0001c0002t0015a0001c0002t0017others(6): Show | a0001c0002t0003g0035a0001c0002t0003g0038a0001c0002t0003g0044others(40): Show | 43 | 334 | 0.1287 | 4 | c.119 others(13): Show |
p.Ter others(5): Show |
WWTR1 | ENSG00000018408.15 | transcript | ENST00000360632.8 | protein_coding | 7/7 | 1463/5037 | 1199/1203 | 400/400 | chr3 | TogoVar | ||
ZACN_chr17_76074182_76087806 | 76081716 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(86): Show |
a0003a0008a0009 | a0003c0003a0003c0012a0008c0013others(1): Show | a0003c0003t0001a0003c0012t0001a0008c0013t0001others(1): Show | a0003c0003t0001g0001a0003c0003t0001g0008a0003c0003t0001g0022others(5): Show | 89 | 392 | 0.2270 | 0 | c.841 others(3): Show |
p.Gln others(4): Show |
ZACN | ENSG00000186919.13 | transcript | ENST00000334586.10 | protein_coding | 7/9 | 924/1475 | 841/1239 | 281/412 | chr17 | TogoVar | ||
ZNF112_chr19_44321555_44361680 | 44329664 | T | TTTTTATA others(6): Show |
frameshift_variant | HIGH | NA18974.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0126 | 1 | 410 | 0.0024 | 13 | c.480 others(20): Show |
p.Ser others(5): Show |
ZNF112 | ENSG00000062370.17 | transcript | ENST00000354340.9 | protein_coding | 4/4 | 550/3660 | 492/2724 | 164/907 | chr19 | TogoVar | ||
ZNF157_chrX_47365578_47419498 | 47370700 | TC | T | frameshift_variant | HIGH | NA18974.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0286 | 1 | 297 | 0.0034 | -1 | c.35d others(3): Show |
p.Pro others(4): Show |
ZNF157 | ENSG00000147117.8 | transcript | ENST00000377073.4 | protein_coding | 1/4 | 126/2516 | 35/1521 | 12/506 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZNF211_chr19_57628168_57649041 | 57633347 | A | G | start_lost | HIGH | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0013a0004c0007others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0002g0002a0002c0002t0002g0016a0002c0002t0002g0021others(29): Show | 112 | 372 | 0.3011 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
ZNF211 | ENSG00000121417.14 | transcript | ENST00000240731.5 | protein_coding | 1/4 | 180/3773 | 1/1734 | 1/577 | chr19 | TogoVar | ||
ZNF324_chr19_58462080_58480436 | 58471234 | G | T | stop_gained | HIGH | NA18974.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0003 | 1 | 440 | 0.0023 | 0 | c.742 others(3): Show |
p.Glu others(4): Show |
ZNF324 | ENSG00000083812.13 | transcript | ENST00000196482.4 | protein_coding | 4/4 | 852/5054 | 742/1662 | 248/553 | 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 | ||
ZNF444_chr19_56136287_56165893 | 56159891 | A | AC | frameshift_variant | HIGH | HG01496.hp2 NA18963.hp1 NA18965.hp1 others(3): Show |
a0003 | a0003c0006a0003c0008a0003c0014 | a0003c0006t0001a0003c0006t0002a0003c0008t0003others(2): Show | a0003c0006t0001g0001a0003c0006t0001g0127a0003c0006t0002g0012others(3): Show | 6 | 416 | 0.0144 | 1 | c.676 others(4): Show |
p.Arg others(5): Show |
ZNF444 | ENSG00000167685.15 | transcript | ENST00000337080.8 | protein_coding | 5/5 | 944/1943 | 677/984 | 226/327 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF528_chr19_52392849_52423401 | 52401662 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 228 | 476 | 0.4790 | 1 | c.-13 others(7): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF559_chr19_9319179_9350871 | 9339262 | C | T | stop_gained | HIGH | NA18974.hp1 | a0009 | a0009c0017 | a0009c0017t0002 | a0009c0017t0002g0151 | 1 | 394 | 0.0025 | 0 | c.103 others(3): Show |
p.Gln others(3): Show |
ZNF559 | ENSG00000188321.14 | transcript | ENST00000603380.6 | protein_coding | 5/7 | 358/4675 | 103/1617 | 35/538 | chr19 | TogoVar | ||
ZNF579_chr19_55571774_55585848 | 55578182 | C | CG | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp2 HG01192.hp1 others(11): Show |
a0010a0011a0014others(2): Show | a0010c0015a0011c0019a0011c0033others(3): Show | a0010c0015t0002a0011c0019t0002a0011c0033t0001others(3): Show | a0010c0015t0002g0026a0010c0015t0002g0032a0010c0015t0002g0064others(5): Show | 14 | 416 | 0.0337 | 1 | c.145 others(5): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1513/2922 | 1457/1689 | 486/562 | chr19 | TogoVar | ||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0000a0004 | a0000c0001a0000c0004a0000c0005others(9): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0003others(50): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0014others(254): Show | 294 | 378 | 0.7778 | -167 | c.138 others(9): Show |
p.Cys others(5): Show |
ZNF626 | ENSG00000188171.17 | transcript | ENST00000601440.6 | protein_coding | 4/4 | 1674/6063 | 1383/1587 | 461/528 | chr19 | 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 | |||||
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 | |
ZNG1E_chr9_65670928_65739041 | 65731675 | G | T | stop_gained | HIGH | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0002c0002t0006a0006c0010t0002 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0014others(52): Show | 56 | 202 | 0.2772 | 0 | c.862 others(3): Show |
p.Glu others(4): Show |
ZNG1E | ENSG00000147996.17 | transcript | ENST00000382405.8 | protein_coding | 12/15 | 911/1662 | 862/1188 | 288/395 | chr9 | TogoVar | ||
ZNG1E_chr9_65670928_65739041 | 65733107 | C | T | stop_gained | HIGH | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0002c0002t0006a0006c0010t0002 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0014others(52): Show | 56 | 202 | 0.2772 | 0 | c.106 others(4): Show |
p.Arg others(4): Show |
ZNG1E | ENSG00000147996.17 | transcript | ENST00000382405.8 | protein_coding | 14/15 | 1115/1662 | 1066/1188 | 356/395 | chr9 | TogoVar |