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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TOR1AIP1_chr1_179877285_179925076 | 179914055 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG02056.hp1 HG02071.hp2 others(16): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002 | a0001c0003t0001g0004 a0001c0003t0001g0006 a0001c0003t0001g0151 others(5): Show |
19 | 288 | 0.0660 | 0 | c.964 others(5): Show |
TOR1AIP1 | ENSG00000143337.19 | transcript | ENST00000606911.7 | protein_coding | 9/9 | chr1 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26541248 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(23): Show |
a0002 | a0002c0002a0002c0011a0002c0012others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(12): Show | a0002c0002t0001g0013 a0002c0002t0001g0026 a0002c0002t0001g0089 others(23): Show |
26 | 398 | 0.0653 | 1 | c.382 others(4): Show |
p.Val others(5): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 3/7 | 622/5653 | 382/1134 | 128/377 | chr22 | TogoVar | |||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
273 | 422 | 0.6469 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0011a0012 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(57): Show |
139 | 422 | 0.3294 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | |||
TSEN54_chr17_75511528_75529735 | 75516795 | CGCTCGCA others(18): Show |
C | frameshift_variant | HIGH | NA19078.hp2 | a0024 | a0024c0018 | a0024c0018t0001 | a0024c0018t0001g0073 | 1 | 422 | 0.0024 | -25 | c.109 others(32): Show |
p.Ser others(4): Show |
TSEN54 | ENSG00000182173.14 | transcript | ENST00000333213.11 | protein_coding | 2/11 | 142/1937 | 109/1581 | 37/526 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
TTC14_chr3_180597163_180616130 | 180603109 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp2 HG02145.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0006t0001g0013 |
6 | 331 | 0.0181 | 1 | c.287 others(6): Show |
TTC14 | ENSG00000163728.11 | transcript | ENST00000296015.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show |
177 | 426 | 0.4155 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
USP17L17_chr4_9238879_9250471 | 9245325 | C | T | stop_gained | HIGH | NA19078.hp1 | a0055 | a0055c0030 | a0055c0030t0001 | a0055c0030t0001g0000 | 1 | 198 | 0.0051 | 0 | c.144 others(4): Show |
p.Gln others(4): Show |
USP17L17 | ENSG00000249104.3 | transcript | ENST00000511568.1 | protein_coding | 1/1 | 1447/1593 | 1447/1593 | 483/530 | chr4 | TogoVar | |||
USP17L18_chr4_9243630_9255222 | 9250076 | C | T | stop_gained | HIGH | NA18968.hp1 NA19078.hp2 |
a0055a0064 | a0055c0035a0064c0036 | a0055c0035t0001a0064c0036t0001 | a0055c0035t0001g0000 a0064c0036t0001g0000 |
2 | 210 | 0.0095 | 0 | c.144 others(4): Show |
p.Gln others(4): Show |
USP17L18 | ENSG00000250844.3 | transcript | ENST00000504209.1 | protein_coding | 1/1 | 1447/1593 | 1447/1593 | 483/530 | chr4 | TogoVar | |||
UTP14A_chrX_129901164_129934752 | 129925899 | TCTCGCTT others(33): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19078.hp2 | a0008 | a0008c0007 | a0008c0007t0003 | a0008c0007t0003g0127 | 1 | 271 | 0.0037 | -40 | c.175 others(52): Show |
p.Glu others(5): Show |
UTP14A | ENSG00000156697.13 | transcript | ENST00000394422.8 | protein_coding | 13/15 | 1750/2316 | 584/771 | INFO_REALIGN_3_PRIME | chrX | 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 | |||||||
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 | |||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00597.hp2 HG00609.hp1 HG00642.hp2 others(14): Show |
a0001a0008 | a0001c0002a0001c0016a0008c0012 | a0001c0002t0001a0001c0002t0002a0001c0016t0004others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(14): Show |
17 | 67 | 0.2537 | 4 | c.933 others(17): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
XAB2_chr19_7614525_7634545 | 7620417 | CTTCCACG others(7): Show |
C | frameshift_variant | HIGH | NA19078.hp2 | a0008 | a0008c0018 | a0008c0018t0003 | a0008c0018t0003g0085 | 1 | 388 | 0.0026 | -14 | c.211 others(23): Show |
p.Trp others(5): Show |
XAB2 | ENSG00000076924.12 | transcript | ENST00000358368.5 | protein_coding | 16/19 | 2141/2647 | 2110/2568 | 704/855 | chr19 | TogoVar | |||
ZC3H11C_chr6_65296476_65311574 | 65304790 | C | T | stop_gained | HIGH | NA19078.hp1 | a0019 | a0019c0024 | a0019c0024t0001 | a0019c0024t0001g0001 | 1 | 440 | 0.0023 | 0 | c.226 others(4): Show |
p.Arg others(4): Show |
ZC3H11C | ENSG00000214558.5 | transcript | ENST00000398578.3 | protein_coding | 2/2 | 2945/4729 | 2269/2418 | 757/805 | chr6 | 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 | ||
ZFYVE19_chr15_40802089_40820084 | 40809151 | T | A | stop_gained | HIGH | NA19078.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0025 | 1 | 380 | 0.0026 | 0 | c.312 others(3): Show |
p.Cys others(4): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 2/11 | 813/2775 | 312/1416 | 104/471 | 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 | |||
ZNF141_chr4_332814_389868 | 373770 | C | CATACTGT others(15): Show |
frameshift_variant others(1): Show |
HIGH | NA19078.hp2 | a0009 | a0009c0009 | a0009c0009t0004 | a0009c0009t0004g0069 | 1 | 336 | 0.0030 | 22 | c.133 others(31): Show |
p.Cys others(5): Show |
ZNF141 | ENSG00000131127.14 | transcript | ENST00000240499.8 | protein_coding | 4/4 | 1528/12601 | 1358/1425 | 453/474 | INFO_REALIGN_3_PRIME | chr4 | 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 | |||
ZNF394_chr7_99488240_99505281 | 99493560 | A | AGCACTTT others(3): Show |
frameshift_variant others(1): Show |
HIGH | NA19078.hp1 | a0009 | a0009c0010 | a0009c0010t0004 | a0009c0010t0004g0102 | 1 | 370 | 0.0027 | 10 | c.164 others(19): Show |
p.Leu others(5): Show |
ZNF394 | ENSG00000160908.15 | transcript | ENST00000337673.7 | protein_coding | 3/3 | 1842/2163 | 1654/1686 | 552/561 | chr7 | 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 | |||||||
ZNF479_chr7_57112676_57137436 | 57120931 | ATTTATGA others(9): Show |
A | frameshift_variant | HIGH | NA19078.hp2 | a0022 | a0022c0021 | a0022c0021t0021 | a0022c0021t0021g0113 | 1 | 430 | 0.0023 | -16 | c.468 others(23): Show |
p.Phe others(5): Show |
ZNF479 | ENSG00000185177.14 | transcript | ENST00000319636.10 | protein_coding | 4/4 | 595/3851 | 468/1575 | 156/524 | 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 | |||||||
ZNF628_chr19_55471617_55489487 | 55481878 | G | GC | frameshift_variant | HIGH | HG01175.hp1 HG01261.hp2 HG01978.hp1 others(6): Show |
a0011a0016a0024others(1): Show | a0011c0031a0011c0032a0011c0033others(6): Show | a0011c0031t0001a0011c0032t0001a0011c0033t0001others(6): Show | a0011c0031t0001g0001 a0011c0032t0001g0050 a0011c0033t0001g0047 others(6): Show |
9 | 420 | 0.0214 | 1 | c.690 others(4): Show |
p.Ala others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 959/3562 | 691/3180 | 231/1059 | 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 |
a0004a0007a0016others(2): Show | a0004c0015a0004c0017a0004c0024others(20): Show | a0004c0015t0001a0004c0017t0001a0004c0024t0001others(20): Show | a0004c0015t0001g0001 a0004c0015t0001g0007 a0004c0015t0001g0017 others(28): Show |
32 | 419 | 0.0764 | 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 | ||
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 | ||
ZNF628_chr19_55471617_55489487 | 55482444 | G | GC | frameshift_variant | HIGH | HG01261.hp2 HG03710.hp1 HG03927.hp2 others(9): Show |
a0004a0011a0014others(4): Show | a0004c0082a0004c0083a0004c0084others(9): Show | a0004c0082t0001a0004c0083t0001a0004c0084t0001others(9): Show | a0004c0082t0001g0131 a0004c0083t0001g0096 a0004c0084t0001g0052 others(9): Show |
12 | 420 | 0.0286 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1525/3562 | 1257/3180 | 419/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF628_chr19_55471617_55489487 | 55482860 | A | AC | frameshift_variant | HIGH | HG01993.hp2 HG02080.hp1 HG03669.hp1 others(6): Show |
a0004a0005a0007others(4): Show | a0004c0082a0004c0084a0005c0061others(6): Show | a0004c0082t0001a0004c0084t0001a0005c0061t0001others(6): Show | a0004c0082t0001g0131 a0004c0084t0001g0052 a0005c0061t0001g0001 others(6): Show |
9 | 419 | 0.0215 | 1 | c.166 others(5): Show |
p.Arg others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1938/3562 | 1670/3180 | 557/1059 | 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 |