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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSPYL2_chrX_53077367_53093540 | 53082740 | A | AG | frameshift_variant | HIGH | HG01243.hp1 HG01952.hp1 HG03579.hp1 others(2): Show |
a0004a0008 | a0004c0004a0008c0008 | a0004c0004t0001a0004c0004t0002a0008c0008t0001 | a0004c0004t0001g0001a0004c0004t0001g0007a0004c0004t0001g0014others(2): Show | 5 | 258 | 0.0194 | 1 | c.249 others(4): Show |
p.Ile others(4): Show |
TSPYL2 | ENSG00000184205.14 | transcript | ENST00000375442.8 | protein_coding | 1/7 | 382/2815 | 250/2082 | 84/693 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
UBQLN2_chrX_56558627_56572868 | 56564104 | C | CG | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 293 | 0.0034 | 1 | c.233 others(4): Show |
p.Ile others(4): Show |
UBQLN2 | ENSG00000188021.9 | transcript | ENST00000338222.7 | protein_coding | 1/1 | 481/4242 | 234/1875 | 78/624 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(223): Show | 407 | 416 | 0.9784 | 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 | ||
UTP6_chr17_31855904_31906708 | 31863418 | C | A | stop_gained | HIGH | NA19089.hp2 | a0008 | a0008c0014 | a0008c0014t0021 | a0008c0014t0021g0031 | 1 | 324 | 0.0031 | 0 | c.173 others(4): Show |
p.Gly others(4): Show |
UTP6 | ENSG00000108651.10 | transcript | ENST00000261708.9 | protein_coding | 19/19 | 1816/4330 | 1735/1794 | 579/597 | chr17 | TogoVar | ||
VPS52_chr6_33245278_33276876 | 33251863 | C | A | stop_gained | HIGH | NA19089.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0142 | 1 | 325 | 0.0031 | 0 | c.190 others(4): Show |
p.Glu others(4): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 18/20 | 2104/2936 | 1903/2172 | 635/723 | chr6 | TogoVar | ||
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(233): Show | 379 | 444 | 0.8536 | 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 | ||
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 | ||
ZNF226_chr19_44160100_44182685 | 44177572 | T | TA | frameshift_variant | HIGH | NA18978.hp2 NA18979.hp2 NA18981.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0003a0003c0004t0001g0008a0003c0004t0001g0013others(2): Show | 8 | 398 | 0.0201 | 1 | c.231 others(5): Show |
p.Thr others(5): Show |
ZNF226 | ENSG00000167380.17 | transcript | ENST00000337433.10 | protein_coding | 6/6 | 2452/2563 | 2312/2412 | 771/803 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
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 | ||
ZNF443_chr19_12424706_12446021 | 12431549 | C | CA | frameshift_variant | HIGH | HG02027.hp2 HG02559.hp1 HG03139.hp2 others(5): Show |
a0004a0006a0010 | a0004c0009a0004c0024a0006c0010others(1): Show | a0004c0009t0001a0004c0024t0001a0006c0010t0002others(1): Show | a0004c0009t0001g0110a0004c0009t0001g0112a0004c0009t0001g0115others(4): Show | 8 | 410 | 0.0195 | 1 | c.622 others(4): Show |
p.Trp others(5): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 729/2573 | 622/2016 | 208/671 | 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 | |||||
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 | |
ZNF740_chr12_53175722_53200142 | 53185962 | A | AGTGGAAC others(15): Show |
frameshift_variant | HIGH | NA19089.hp2 | a0004 | a0004c0002 | a0004c0002t0076 | a0004c0002t0076g0064 | 1 | 392 | 0.0026 | 22 | c.259 others(29): Show |
p.Gln others(4): Show |
ZNF740 | ENSG00000139651.11 | transcript | ENST00000416904.5 | protein_coding | 5/7 | 704/8557 | 281/582 | 94/193 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |