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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | |||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0009a0001c0042others(26): Show | a0001c0001t0001a0001c0001t0021a0001c0009t0002others(44): Show | a0001c0001t0001g0008 a0001c0001t0021g0008 a0001c0009t0002g0001 others(61): Show |
137 | 270 | 0.5074 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTTTTT others(18): Show |
splice_acceptor_variant others(1): Show |
HIGH | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0057 | 1 | 51 | 0.0196 | 25 | c.933 others(39): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZACN_chr17_76074182_76087806 | 76081716 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(86): Show |
a0003a0007a0011 | a0003c0003a0003c0012a0007c0010others(1): Show | a0003c0003t0001a0003c0012t0001a0007c0010t0001others(1): Show | a0003c0003t0001g0001 a0003c0003t0001g0008 a0003c0003t0001g0022 others(5): Show |
89 | 390 | 0.2282 | 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 | |||
ZAN_chr7_100728595_100802797 | 100729949 | GGCTCACT others(13137): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(48): Show |
a0003a0010a0014others(3): Show | a0003c0002a0003c0095a0003c0098others(12): Show | a0003c0002t0002a0003c0095t0002a0003c0098t0002others(12): Show | a0003c0002t0002g0001 a0003c0002t0002g0002 a0003c0002t0002g0005 others(47): Show |
51 | 306 | 0.1667 | -13144 | c.-38 others(14): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 1/48 | chr7 | TogoVar | |||||||
ZAN_chr7_100728595_100802797 | 100773853 | TG | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(147): Show |
a0002a0005a0006others(24): Show | a0002c0003a0002c0012a0002c0017others(65): Show | a0002c0003t0001a0002c0012t0001a0002c0017t0001others(65): Show | a0002c0003t0001g0055 a0002c0003t0001g0061 a0002c0003t0001g0108 others(147): Show |
150 | 306 | 0.4902 | -1 | c.576 others(5): Show |
p.Cys others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5964/8700 | 5768/8439 | 1923/2812 | chr7 | TogoVar | |||
ZC3H12B_chrX_65029826_65512887 | 65497128 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00735.hp2 HG00738.hp1 HG01081.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0002g0131 others(55): Show |
58 | 165 | 0.3515 | 1 | c.609 others(6): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 766918 | A | C | start_lost others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(77): Show | a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0061 others(207): Show |
215 | 270 | 0.7963 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 4/14 | 293/3342 | 2/1116 | 1/371 | chr5 | TogoVar | |||
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006 | a0002c0002a0002c0015a0002c0016others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(7): Show | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0009 others(23): Show |
118 | 380 | 0.3105 | 5 | c.118 others(12): Show |
p.Arg others(4): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/11 | 624/2775 | 123/1416 | 41/471 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(375): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(134): Show |
378 | 442 | 0.8552 | 0 | c.128 others(4): Show |
p.Arg others(4): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 4/4 | 2567/9084 | 1282/1452 | 428/483 | chr7 | TogoVar | |||
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(136): Show |
a0002a0004a0005others(1): Show | a0002c0003a0002c0004a0004c0005others(2): Show | a0002c0003t0001a0002c0004t0001a0004c0005t0001others(2): Show | a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0008 others(87): Show |
139 | 406 | 0.3424 | -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 | |||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0007a0002c0016others(4): Show | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0025 others(33): Show |
109 | 408 | 0.2672 | 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 | |||
ZNF480_chr19_52292169_52330922 | 52300416 | CTG | C | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(216): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(11): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0016 others(153): Show |
219 | 376 | 0.5824 | -2 | c.9_1 others(6): Show |
p.Cys others(3): Show |
ZNF480 | ENSG00000198464.14 | transcript | ENST00000595962.6 | protein_coding | 2/5 | 83/4746 | 9/1608 | 3/535 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF492_chr19_22629324_22672671 | 22634476 | T | G | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(65): Show |
a0002a0005a0007others(1): Show | a0002c0002a0002c0012a0005c0005others(2): Show | a0002c0002t0002a0002c0002t0016a0002c0002t0035others(8): Show | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 others(46): Show |
68 | 364 | 0.1868 | 0 | c.-94 others(5): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ZNF528_chr19_52392849_52423401 | 52401662 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(90): Show |
227 | 413 | 0.5496 | 1 | c.-13 others(7): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF567_chr19_36682612_36726336 | 36689395 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(154): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(89): Show |
157 | 384 | 0.4089 | 0 | c.-16 others(6): Show |
ZNF567 | ENSG00000189042.14 | transcript | ENST00000682579.1 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0009a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(253): Show |
293 | 376 | 0.7793 | -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 | |||
ZNF711_chrX_85238991_85278357 | 85268268 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00621.hp1 HG01346.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0080 a0001c0001t0001g0090 others(16): Show |
19 | 184 | 0.1033 | 1 | c.105 others(7): Show |
ZNF711 | ENSG00000147180.17 | transcript | ENST00000674551.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 127124 | GAAAATTT others(6135): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(158): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(113): Show |
161 | 328 | 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 | ||||||
ZNF860_chr3_31976750_31996723 | 31989506 | C | T | stop_gained | HIGH | HG00639.hp2 HG01175.hp2 HG01243.hp1 others(18): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0013 | a0004c0004t0001g0005 a0004c0004t0001g0028 a0004c0004t0013g0005 |
21 | 412 | 0.0510 | 0 | c.427 others(3): Show |
p.Arg others(4): Show |
ZNF860 | ENSG00000197385.6 | transcript | ENST00000360311.5 | protein_coding | 2/2 | 1000/3217 | 427/1899 | 143/632 | chr3 | TogoVar | |||
ZNF93_chr19_19895946_19940575 | 19934801 | AC | A | frameshift_variant | HIGH | HG01167.hp1 HG01169.hp2 HG02280.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0025 a0004c0004t0005g0057 a0004c0004t0005g0063 others(4): Show |
8 | 386 | 0.0207 | -1 | c.184 others(5): Show |
p.Thr others(5): Show |
ZNF93 | ENSG00000184635.17 | transcript | ENST00000343769.6 | protein_coding | 4/4 | 1990/2763 | 1847/1863 | 616/620 | chr19 | TogoVar | |||
ZNF99_chr19_22747183_22789151 | 22757390 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(47): Show |
a0004a0006a0007 | a0004c0004a0006c0006a0007c0007 | a0004c0004t0003a0004c0004t0019a0004c0004t0035others(4): Show | a0004c0004t0003g0002 a0004c0004t0003g0017 a0004c0004t0003g0018 others(42): Show |
50 | 342 | 0.1462 | 1 | c.251 others(10): Show |
p.Met others(5): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 4/4 | 2653/7861 | 2518/2595 | 840/864 | chr19 | TogoVar |