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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(233): Show |
239 | 356 | 0.6713 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 3/10 | 125/4616 | 2/1284 | 1/427 | chr12 | TogoVar | |||
VNN1_chr6_132675849_132719055 | 132683142 | A | G | stop_lost | HIGH | HG02055.hp2 HG02145.hp1 HG02723.hp2 others(10): Show |
a0005a0008a0015 | a0005c0005a0005c0008a0008c0007others(1): Show | a0005c0005t0010a0005c0005t0020a0005c0005t0022others(6): Show | a0005c0005t0010g0039 a0005c0005t0010g0123 a0005c0005t0020g0122 others(9): Show |
13 | 416 | 0.0313 | 0 | c.154 others(4): Show |
p.Ter others(11): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 7/7 | 1560/3853 | 1540/1542 | 514/513 | chr6 | TogoVar | |||
VWDE_chr7_12325885_12408865 | 12336140 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02145.hp2 HG02280.hp1 HG02451.hp1 others(6): Show |
a0002a0012a0028 | a0002c0043a0012c0011a0028c0029 | a0002c0043t0002a0012c0011t0002a0028c0029t0001 | a0002c0043t0002g0269 a0012c0011t0002g0015 a0012c0011t0002g0260 others(3): Show |
9 | 372 | 0.0242 | 0 | c.465 others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 27/28 | chr7 | TogoVar | |||||||
VWDE_chr7_12325885_12408865 | 12342095 | AC | A | frameshift_variant | HIGH | HG02145.hp2 HG02280.hp1 HG02451.hp1 others(6): Show |
a0002a0012a0028 | a0002c0043a0012c0011a0028c0029 | a0002c0043t0002a0012c0011t0002a0028c0029t0001 | a0002c0043t0002g0269 a0012c0011t0002g0015 a0012c0011t0002g0260 others(3): Show |
9 | 372 | 0.0242 | -1 | c.423 others(5): Show |
p.Gln others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 23/29 | 4382/5220 | 4233/4773 | 1411/1590 | chr7 | TogoVar | |||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0009a0012others(7): Show | a0002c0002a0002c0042a0002c0043others(9): Show | a0002c0002t0002a0002c0042t0002a0002c0043t0002others(10): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(36): Show |
72 | 372 | 0.1935 | 1 | c.381 others(5): Show |
p.Lys others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 19/29 | 3965/5220 | 3816/4773 | 1272/1590 | chr7 | TogoVar | |||
VWDE_chr7_12325885_12408865 | 12375099 | G | A | stop_gained | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show |
a0002a0009a0012others(3): Show | a0002c0002a0002c0039a0002c0040others(12): Show | a0002c0002t0002a0002c0039t0002a0002c0040t0002others(12): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(37): Show |
73 | 372 | 0.1962 | 0 | c.115 others(4): Show |
p.Arg others(4): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 8/29 | 1302/5220 | 1153/4773 | 385/1590 | chr7 | TogoVar | |||
XNDC1N_chr11_71875704_71933594 | 71884595 | G | GA | frameshift_variant | HIGH | HG01074.hp1 HG02109.hp1 HG02258.hp2 others(15): Show |
a0002a0003a0004 | a0002c0003a0003c0004a0004c0008others(1): Show | a0002c0003t0005a0002c0003t0021a0003c0004t0008others(3): Show | a0002c0003t0005g0027 a0002c0003t0005g0249 a0002c0003t0005g0250 others(14): Show |
18 | 336 | 0.0536 | 1 | c.548 others(4): Show |
p.Ser others(5): Show |
XNDC1N | ENSG00000254469.11 | transcript | ENST00000679412.2 | protein_coding | 6/6 | 900/4792 | 548/705 | 183/234 | chr11 | 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 | |||
ZBTB7A_chr19_4038303_4071899 | 4047896 | GTGCTTCT others(9): Show |
G | frameshift_variant | HIGH | NA19240.hp1 | a0006 | a0006c0014 | a0006c0014t0048 | a0006c0014t0048g0057 | 1 | 274 | 0.0036 | -16 | c.159 others(25): Show |
p.Asn others(5): Show |
ZBTB7A | ENSG00000178951.9 | transcript | ENST00000322357.9 | protein_coding | 3/3 | 1843/6437 | 1595/1755 | 532/584 | chr19 | TogoVar | |||
ZBTB7A_chr19_4038303_4071899 | 4047980 | G | GCCGGTTG others(6): Show |
frameshift_variant | HIGH | NA19240.hp1 | a0006 | a0006c0014 | a0006c0014t0048 | a0006c0014t0048g0057 | 1 | 274 | 0.0036 | 13 | c.152 others(22): Show |
p.Pro others(5): Show |
ZBTB7A | ENSG00000178951.9 | transcript | ENST00000322357.9 | protein_coding | 3/3 | 1759/6437 | 1526/1755 | 509/584 | chr19 | TogoVar | |||
ZC2HC1A_chr8_78661089_78724765 | 78686431 | G | GTTTA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0009 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 others(36): Show |
56 | 86 | 0.6512 | 4 | c.211 others(15): Show |
ZC2HC1A | ENSG00000104427.13 | transcript | ENST00000263849.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | 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 | |||
ZFAND1_chr8_81696337_81726300 | 81717289 | C | A | splice_acceptor_variant others(1): Show |
HIGH | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 376 | 0.0027 | 0 | c.99- others(4): Show |
ZFAND1 | ENSG00000104231.11 | transcript | ENST00000220669.10 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
ZFHX4_chr8_76676247_76872281 | 76853081 | CCT | C | frameshift_variant | HIGH | HG00621.hp2 HG01081.hp1 HG01175.hp1 others(17): Show |
a0004a0025 | a0004c0010a0004c0012a0004c0015others(5): Show | a0004c0010t0001a0004c0010t0006a0004c0012t0004others(7): Show | a0004c0010t0001g0009 a0004c0010t0001g0029 a0004c0010t0001g0059 others(17): Show |
20 | 242 | 0.0826 | -2 | c.616 others(11): Show |
p.Pro others(6): Show |
ZFHX4 | ENSG00000091656.19 | transcript | ENST00000651372.2 | protein_coding | 10/11 | 6582/13987 | 6162/10851 | 2054/3616 | INFO_REALIGN_3_PRIME | chr8 | 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 | |||
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 | |||||||
ZNF442_chr19_12340944_12370683 | 12352059 | C | A | stop_gained | HIGH | HG02630.hp2 HG02922.hp2 HG03453.hp1 others(1): Show |
a0003 | a0003c0007 | a0003c0007t0010 | a0003c0007t0010g0012 | 4 | 298 | 0.0134 | 0 | c.217 others(3): Show |
p.Glu others(3): Show |
ZNF442 | ENSG00000198342.10 | transcript | ENST00000242804.9 | protein_coding | 5/6 | 850/6274 | 217/1884 | 73/627 | 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 | |||
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 | ||
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 | |||||||
ZNF711_chrX_85238991_85278357 | 85268268 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00735.hp2 HG00738.hp1 HG01167.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0041 others(18): Show |
22 | 187 | 0.1176 | 3 | c.105 others(16): 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 | ||||||
ZNF816_chr19_52944385_52967881 | 52951117 | G | A | stop_gained | HIGH | NA19240.hp2 | a0014 | a0014c0017 | a0014c0017t0002 | a0014c0017t0002g0119 | 1 | 440 | 0.0023 | 0 | c.658 others(3): Show |
p.Gln others(4): Show |
ZNF816 | ENSG00000180257.14 | transcript | ENST00000444460.7 | protein_coding | 4/4 | 828/2560 | 658/1956 | 220/651 | chr19 | 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 | |||
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 |