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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UGT2B10_chr4_68810994_68837023 | 68822269 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0023a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(18): Show |
63 | 460 | 0.1370 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UNC93A_chr6_167286315_167321014 | 167296214 | G | A | stop_gained | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show |
a0004 | a0004c0004a0004c0008a0004c0011others(4): Show | a0004c0004t0003a0004c0004t0006a0004c0008t0001others(6): Show | a0004c0004t0003g0006 a0004c0004t0003g0011 a0004c0004t0003g0029 others(42): Show |
54 | 446 | 0.1211 | 0 | c.452 others(3): Show |
p.Trp others(4): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 3/8 | 627/2111 | 452/1374 | 151/457 | chr6 | TogoVar | |||
UNC93A_chr6_167286315_167321014 | 167298071 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(4): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 others(21): Show |
29 | 446 | 0.0650 | 0 | c.625 others(5): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
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 | |||||||
VWA3A_chr16_22087541_22161964 | 22115351 | C | T | stop_gained | HIGH | HG02015.hp2 HG02135.hp1 |
a0009 | a0009c0012 | a0009c0012t0001a0009c0012t0004 | a0009c0012t0001g0190 a0009c0012t0004g0200 |
2 | 292 | 0.0068 | 0 | c.694 others(3): Show |
p.Gln others(4): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/34 | 791/4599 | 694/3555 | 232/1184 | chr16 | TogoVar | |||
WWTR1_chr3_149512235_149663025 | 149520808 | C | CTTAA | frameshift_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp1 HG01167.hp2 others(39): Show |
a0001a0002a0007 | a0001c0002a0002c0004a0007c0007 | a0001c0002t0003a0001c0002t0015a0001c0002t0017others(6): Show | a0001c0002t0003g0034 a0001c0002t0003g0040 a0001c0002t0003g0046 others(39): Show |
42 | 332 | 0.1265 | 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 |
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 | |||
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 | |||
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 | |||
ZNF628_chr19_55471617_55489487 | 55482244 | G | GC | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00642.hp2 others(22): Show |
a0004a0005a0007others(3): Show | a0004c0054a0004c0055a0004c0082others(13): Show | a0004c0054t0001a0004c0055t0001a0004c0082t0001others(13): Show | a0004c0054t0001g0128 a0004c0055t0001g0043 a0004c0082t0001g0131 others(20): Show |
25 | 420 | 0.0595 | 1 | c.105 others(5): Show |
p.Ala others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1325/3562 | 1057/3180 | 353/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF880_chr19_52364923_52390795 | 52383892 | TA | T | frameshift_variant | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
a0002a0005 | a0002c0002a0002c0012a0002c0013others(6): Show | a0002c0002t0002a0002c0012t0002a0002c0013t0002others(6): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 others(77): Show |
149 | 456 | 0.3268 | -1 | c.317 others(4): Show |
p.Asn others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 360/2258 | 317/1734 | 106/577 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(460): Show |
frameshift_variant others(1): Show |
HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(139): Show |
a0002a0005a0011others(1): Show | a0002c0002a0002c0014a0005c0006others(2): Show | a0002c0002t0002a0002c0014t0002a0005c0006t0002others(2): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 others(72): Show |
142 | 424 | 0.3349 | 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 | ||
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 | |||
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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(280): Show |
295 | 322 | 0.9161 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(213): Show |
223 | 322 | 0.6925 | 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 |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0002a0002c0002t0006a0007c0010t0002 | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0014 others(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 |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0002a0002c0002t0006a0007c0010t0002 | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0014 others(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 |