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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBR2_chr6_42559029_42698505 | 42644198 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 others(21): Show |
24 | 337 | 0.0712 | 1 | c.209 others(7): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0004a0005 | a0002c0002a0004c0003a0005c0005others(1): Show | a0002c0002t0001a0004c0003t0001a0005c0005t0001others(1): Show | a0002c0002t0001g0000 a0004c0003t0001g0000 a0005c0005t0001g0000 others(1): Show |
65 | 274 | 0.2372 | 1 | c.772 others(4): Show |
p.Trp others(5): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 1/1 | 773/1182 | 773/1182 | 258/393 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
UBXN11_chr1_26277282_26311636 | 26282328 | A | AGGGACTG others(19): Show |
frameshift_variant | HIGH | NA19002.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0062 | 1 | 263 | 0.0038 | 26 | c.153 others(35): Show |
p.Cys others(5): Show |
UBXN11 | ENSG00000158062.21 | transcript | ENST00000374222.6 | protein_coding | 15/15 | 1613/1660 | 1533/1563 | 511/520 | chr1 | 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 | |||
UNCX_chr7_1227872_1242326 | 1236226 | A | AC | frameshift_variant | HIGH | HG01243.hp2 HG01361.hp2 HG02896.hp1 others(9): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0007t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 others(6): Show |
12 | 404 | 0.0297 | 1 | c.849 others(4): Show |
p.Ala others(5): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 3/3 | 996/2091 | 850/1596 | 284/531 | INFO_REALIGN_3_PRIME | chr7 | 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 | |||
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 | |||
ZAN_chr7_100728595_100802797 | 100773735 | G | A | stop_gained | HIGH | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(73): Show |
a0001a0021a0024others(3): Show | a0001c0001a0001c0006a0001c0011others(13): Show | a0001c0001t0001a0001c0006t0001a0001c0011t0001others(13): Show | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0076 others(73): Show |
76 | 306 | 0.2484 | 0 | c.564 others(4): Show |
p.Trp others(5): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5845/8700 | 5649/8439 | 1883/2812 | chr7 | TogoVar | |||
ZC3H3_chr8_143432659_143546447 | 143440217 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(50): Show |
a0003a0010a0013others(3): Show | a0003c0003a0003c0042a0003c0051others(5): Show | a0003c0003t0002a0003c0003t0006a0003c0042t0002others(6): Show | a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 others(50): Show |
53 | 350 | 0.1514 | 0 | c.263 others(4): Show |
p.Ser others(4): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 11/12 | 2665/3270 | 2639/2847 | 880/948 | chr8 | 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 | |||
ZNF211_chr19_57628168_57649041 | 57633347 | A | G | start_lost | HIGH | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show |
a0002 | a0002c0002a0002c0006a0002c0007others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0002g0002 a0002c0002t0002g0016 a0002c0002t0002g0021 others(29): Show |
112 | 370 | 0.3027 | 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 | |||
ZNF419_chr19_57482750_57501098 | 57492212 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0002a0007 | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(32): Show | a0002c0002t0004g0003 a0002c0002t0004g0026 a0002c0002t0004g0027 others(59): Show |
139 | 416 | 0.3341 | 0 | c.298 others(5): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ZNF474_chr5_122124546_122158569 | 122152940 | AT | A | frameshift_variant | HIGH | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(82): Show |
a0003a0004a0006others(2): Show | a0003c0003a0003c0013a0004c0004others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(11): Show | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 others(76): Show |
85 | 384 | 0.2214 | -1 | c.953 others(4): Show |
p.Leu others(5): Show |
ZNF474 | ENSG00000164185.7 | transcript | ENST00000296600.5 | protein_coding | 2/2 | 1303/1929 | 953/1095 | 318/364 | INFO_REALIGN_3_PRIME | chr5 | 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 | ||
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 | |||||||
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 | a0004c0004t0001g0002 a0004c0004t0001g0037 a0005c0008t0001g0007 others(24): Show |
117 | 411 | 0.2847 | 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 | |||
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 |