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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
RABL2A_chr2_113622266_113648392 | 113635063 | CG | C | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp2 HG00735.hp2 others(38): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0010a0002c0002t0015others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0005a0002c0002t0001g0025others(17): Show | 41 | 436 | 0.0940 | -1 | c.232 others(4): Show |
p.Ala others(4): Show |
RABL2A | ENSG00000144134.19 | transcript | ENST00000683472.1 | protein_coding | 5/9 | 420/2141 | 232/690 | 78/229 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
RAPH1_chr2_203428682_203540301 | 203441288 | T | TG | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(33): Show |
a0002a0006 | a0002c0005a0002c0006a0002c0012others(8): Show | a0002c0005t0002a0002c0005t0003a0002c0005t0011others(28): Show | a0002c0005t0002g0136a0002c0005t0002g0168a0002c0005t0003g0145others(33): Show | 36 | 290 | 0.1241 | 1 | c.190 others(5): Show |
p.Pro others(5): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 14/14 | 2092/9699 | 1901/3753 | 634/1250 | chr2 | TogoVar | ||
RFPL4AL1_chr19_55764118_55778420 | 55772724 | G | GCCCTGTG others(9993): Show |
frameshift_variant others(1): Show |
HIGH | NA19001.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0009 | 1 | 477 | 0.0021 | 10000 | c.515 others(10007): Show |
p.Asn others(5): Show |
RFPL4AL1 | ENSG00000229292.2 | transcript | ENST00000341750.5 | protein_coding | 3/3 | 583/1172 | 516/864 | 172/287 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
RHOT2_chr16_663132_679171 | 668541 | GGTGCCCA others(4): Show |
G | frameshift_variant | HIGH | NA19001.hp2 | a0009 | a0009c0034 | a0009c0034t0001 | a0009c0034t0001g0038 | 1 | 380 | 0.0026 | -11 | c.151 others(18): Show |
p.Val others(4): Show |
RHOT2 | ENSG00000140983.15 | transcript | ENST00000315082.9 | protein_coding | 3/19 | 219/2490 | 151/1857 | 51/618 | chr16 | TogoVar | ||
RTL8B_chrX_135015513_135027542 | 135022248 | C | CG | frameshift_variant | HIGH | NA19001.hp2 NA19078.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0000a0002c0003t0002g0000 | 2 | 295 | 0.0068 | 1 | c.211 others(4): Show |
p.Arg others(4): Show |
RTL8B | ENSG00000212747.5 | transcript | ENST00000391440.3 | protein_coding | 1/1 | 294/2030 | 211/342 | 71/113 | chrX | TogoVar | ||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0008 | a0001c0013a0002c0003a0008c0007 | a0001c0013t0002a0002c0003t0003a0008c0007t0003 | a0001c0013t0002g0012a0002c0003t0003g0021a0002c0003t0003g0022others(50): Show | 53 | 386 | 0.1373 | 1 | c.100 others(7): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0006a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(101): Show | 104 | 386 | 0.2694 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0022a0003c0003others(5): Show | a0002c0002t0002a0002c0022t0002a0003c0003t0002others(9): Show | a0002c0002t0002g0190a0002c0002t0002g0194a0002c0002t0002g0219others(114): Show | 117 | 312 | 0.3750 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/32 | 102/5033 | 1/4203 | 1/1400 | chr15 | TogoVar | ||
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0005others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0014others(79): Show | 204 | 422 | 0.4834 | 0 | c.268 others(3): Show |
p.Glu others(3): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4/8 | 330/1735 | 268/1179 | 90/392 | chr18 | TogoVar | ||
SH3D19_chr4_151115281_151330605 | 151147961 | A | AG | frameshift_variant | HIGH | HG00423.hp1 HG01243.hp1 HG02055.hp1 others(6): Show |
a0004a0014 | a0004c0011a0004c0012a0004c0014others(4): Show | a0004c0011t0001a0004c0012t0001a0004c0012t0009others(5): Show | a0004c0011t0001g0064a0004c0011t0001g0110a0004c0012t0001g0117others(6): Show | 9 | 282 | 0.0319 | 1 | c.204 others(5): Show |
p.Arg others(5): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 11/20 | 2295/5207 | 2042/3144 | 681/1047 | chr4 | TogoVar | ||
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | ||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | ||
SLFN13_chr17_35430096_35453766 | 35445639 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show |
a0002 | a0002c0002a0002c0014a0002c0023others(6): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(17): Show | a0002c0002t0003g0003a0002c0002t0003g0022a0002c0002t0003g0060others(25): Show | 59 | 456 | 0.1294 | 0 | c.42C others(2): Show |
p.Tyr others(3): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 3/6 | 247/8398 | 42/2694 | 14/897 | chr17 | TogoVar | ||
SLFNL1_chr1_41010597_41026725 | 41017902 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show |
a0002a0005a0007others(3): Show | a0002c0002a0002c0022a0005c0007others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0007a0002c0002t0001g0022a0002c0002t0001g0029others(24): Show | 60 | 430 | 0.1395 | 1 | c.689 others(4): Show |
p.Ser others(5): Show |
SLFNL1 | ENSG00000171790.16 | transcript | ENST00000302946.13 | protein_coding | 4/6 | 917/1961 | 689/1224 | 230/407 | chr1 | TogoVar | ||
SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 140 | 294 | 0.4762 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151692406 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0136a0001c0001t0003g0099a0001c0001t0003g0141others(65): Show | 70 | 366 | 0.1913 | 2 | c.124 others(15): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPACA5B_chrX_48125626_48137620 | 48132511 | TC | T | frameshift_variant | HIGH | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.464 others(4): Show |
p.Pro others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4/4 | 526/633 | 464/480 | 155/159 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | ||
TBC1D25_chrX_48534714_48567609 | 48544900 | CG | C | frameshift_variant | HIGH | NA19001.hp1 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0033 | 1 | 294 | 0.0034 | -1 | c.268 others(4): Show |
p.Asp others(4): Show |
TBC1D25 | ENSG00000068354.16 | transcript | ENST00000376771.9 | protein_coding | 3/6 | 352/3785 | 268/2067 | 90/688 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TCF19_chr6_31153589_31169215 | 31161820 | T | TC | frameshift_variant | HIGH | HG00280.hp2 HG00673.hp2 HG02027.hp2 others(11): Show |
a0005a0006a0009others(1): Show | a0005c0006a0006c0007a0009c0015others(1): Show | a0005c0006t0002a0005c0006t0008a0006c0007t0001others(6): Show | a0005c0006t0002g0002a0005c0006t0002g0005a0005c0006t0008g0005others(8): Show | 14 | 451 | 0.0310 | 1 | c.615 others(4): Show |
p.Ala others(5): Show |
TCF19 | ENSG00000137310.13 | transcript | ENST00000376257.8 | protein_coding | 3/4 | 1323/3243 | 616/1038 | 206/345 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
TCP11X2_chrX_102455315_102476812 | 102460725 | G | GA | frameshift_variant | HIGH | NA19001.hp2 | a0009 | a0009c0008 | a0009c0008t0004 | a0009c0008t0004g0045 | 1 | 137 | 0.0073 | 1 | c.129 others(5): Show |
p.Leu others(5): Show |
TCP11X2 | ENSG00000215029.12 | transcript | ENST00000642911.3 | protein_coding | 10/10 | 1347/1758 | 1296/1509 | 432/502 | chrX | TogoVar | ||
TERF1_chr8_73003864_73053123 | 73008965 | CAGATGGC others(12): Show |
C | frameshift_variant | HIGH | NA19001.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0138 | 1 | 342 | 0.0029 | -19 | c.81_ others(24): Show |
p.Met others(4): Show |
TERF1 | ENSG00000147601.15 | transcript | ENST00000276603.10 | protein_coding | 1/10 | 104/3329 | 81/1320 | 27/439 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(88): Show | 102 | 414 | 0.2464 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | TogoVar | ||||||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(44): Show | 165 | 303 | 0.5446 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TLR8 | ENSG00000101916.12 | transcript | ENST00000218032.7 | protein_coding | 1/2 | 88/4216 | 1/3126 | 1/1041 | chrX | TogoVar | ||
TNK1_chr17_7376089_7394742 | 7387376 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0002a0001c0031others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0048others(15): Show | 56 | 452 | 0.1239 | 0 | c.139 others(6): Show |
TNK1 | ENSG00000174292.13 | transcript | ENST00000688331.1 | protein_coding | 9/12 | chr17 | 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 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0006others(31): Show | 177 | 428 | 0.4136 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
UBXN11_chr1_26277282_26311636 | 26282391 | G | GGACCGGG others(30): Show |
frameshift_variant | HIGH | NA19001.hp1 | a0000 | a0000c0022 | a0000c0022t0001 | a0000c0022t0001g0072 | 1 | 370 | 0.0027 | 37 | c.147 others(46): Show |
p.Pro others(5): Show |
UBXN11 | ENSG00000158062.21 | transcript | ENST00000374222.6 | protein_coding | 15/15 | 1550/1660 | 1470/1563 | 490/520 | chr1 | TogoVar | ||
ULBP3_chr6_150056053_150074121 | 150069013 | G | C | stop_gained | HIGH | HG00099.hp1 HG01934.hp2 HG01943.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0030a0003c0003t0057 | a0003c0003t0006g0013a0003c0003t0006g0038a0003c0003t0006g0117others(3): Show | 13 | 458 | 0.0284 | 0 | c.54C others(2): Show |
p.Tyr others(3): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 1/5 | 109/3111 | 54/735 | 18/244 | chr6 | 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 | a0004c0004t0003g0005a0004c0004t0003g0010a0004c0004t0003g0028others(43): Show | 54 | 448 | 0.1205 | 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 | ||
USP17L20_chr4_9253124_9264716 | 9258279 | T | A | stop_gained | HIGH | HG01261.hp2 HG01346.hp2 HG02132.hp2 others(7): Show |
a0006 | a0006c0012a0006c0020a0006c0051others(4): Show | a0006c0012t0000a0006c0020t0000a0006c0051t0000others(4): Show | a0006c0012t0000g0000a0006c0020t0000g0000a0006c0051t0000g0000others(4): Show | 10 | 234 | 0.0427 | 0 | c.156 others(3): Show |
p.Cys others(3): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 156/1593 | 156/1593 | 52/530 | chr4 | TogoVar | ||
USP17L5_chr4_9334403_9345995 | 9340386 | G | A | stop_gained | HIGH | HG01952.hp1 NA19001.hp2 |
a0009 | a0009c0009 | a0009c0009t0000 | a0009c0009t0000g0000 | 2 | 130 | 0.0154 | 0 | c.984 others(3): Show |
p.Trp others(4): Show |
USP17L5 | ENSG00000227140.3 | transcript | ENST00000507227.1 | protein_coding | 1/1 | 984/1593 | 984/1593 | 328/530 | chr4 | 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 | ||
VSIG10L_chr19_51326541_51347139 | 51332638 | T | TG | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0003others(24): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0006others(40): Show | a0000c0001t0001g0004a0000c0001t0001g0012a0000c0001t0001g0014others(104): Show | 451 | 452 | 0.9978 | 1 | c.257 others(5): Show |
p.Gln others(5): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 10/10 | 2591/3689 | 2576/2604 | 859/867 | chr19 | TogoVar | ||
WDR12_chr2_202869261_202916673 | 202894622 | CAAAACTA others(5): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19001.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0076 | 1 | 384 | 0.0026 | -12 | c.610 others(21): Show |
p.Phe others(5): Show |
WDR12 | ENSG00000138442.11 | transcript | ENST00000261015.5 | protein_coding | 7/13 | 810/8068 | 610/1272 | 204/423 | chr2 | TogoVar | ||
WDR13_chrX_48592492_48613869 | 48600352 | A | AC | frameshift_variant | HIGH | NA18949.hp1 NA18953.hp1 NA19001.hp1 |
a0002 | a0002c0002 | a0002c0002t0048a0002c0002t0058a0002c0002t0099 | a0002c0002t0048g0075a0002c0002t0058g0002a0002c0002t0099g0051 | 3 | 310 | 0.0097 | 1 | c.559 others(4): Show |
p.Arg others(5): Show |
WDR13 | ENSG00000101940.18 | transcript | ENST00000376729.10 | protein_coding | 6/10 | 722/5457 | 560/1458 | 187/485 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZACN_chr17_76074182_76087806 | 76081716 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(86): Show |
a0003a0008a0009 | a0003c0003a0003c0012a0008c0013others(1): Show | a0003c0003t0001a0003c0012t0001a0008c0013t0001others(1): Show | a0003c0003t0001g0001a0003c0003t0001g0008a0003c0003t0001g0022others(5): Show | 89 | 392 | 0.2270 | 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 |
a0001a0021 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(86): Show | a0001c0001t0001g0003a0001c0001t0001g0062a0001c0001t0001g0063others(207): Show | 215 | 271 | 0.7934 | 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 | ||
ZMAT1_chrX_101877290_101937027 | 101897911 | C | CT | frameshift_variant | HIGH | NA19001.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0105 | 1 | 250 | 0.0040 | 1 | c.632 others(4): Show |
p.Glu others(5): Show |
ZMAT1 | ENSG00000166432.16 | transcript | ENST00000651725.2 | protein_coding | 4/6 | 651/3327 | 632/2088 | 211/695 | chrX | TogoVar | ||
ZMAT1_chrX_101877290_101937027 | 101898180 | AT | A | frameshift_variant | HIGH | NA19001.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0105 | 1 | 250 | 0.0040 | -1 | c.439 others(4): Show |
p.Met others(5): Show |
ZMAT1 | ENSG00000166432.16 | transcript | ENST00000651725.2 | protein_coding | 3/6 | 458/3327 | 439/2088 | 147/695 | chrX | TogoVar | ||
ZNF185_chrX_152893067_152978474 | 152922245 | TG | T | frameshift_variant | HIGH | NA19001.hp1 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0073 | 1 | 260 | 0.0039 | -1 | c.731 others(4): Show |
p.Gly others(5): Show |
ZNF185 | ENSG00000147394.20 | transcript | ENST00000695776.1 | protein_coding | 11/25 | 948/4587 | 731/2169 | 244/722 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
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 | ||
ZNF280C_chrX_130197707_130273899 | 130205366 | CG | C | frameshift_variant | HIGH | NA19001.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0183 | 1 | 271 | 0.0037 | -1 | c.209 others(5): Show |
p.Gly others(5): Show |
ZNF280C | ENSG00000056277.16 | transcript | ENST00000370978.9 | protein_coding | 17/19 | 2245/4638 | 2091/2214 | 697/737 | chrX | TogoVar | ||
ZNF383_chr19_37213214_37253740 | 37224802 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00673.hp2 HG01081.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(12): Show | a0001c0001t0002g0020a0001c0001t0002g0246a0001c0001t0002g0254others(38): Show | 45 | 404 | 0.1114 | 1 | c.-16 others(7): Show |
ZNF383 | ENSG00000188283.12 | transcript | ENST00000684119.1 | protein_coding | 1/5 | 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(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 | |||||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0000a0004 | a0000c0001a0000c0004a0000c0005others(9): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0003others(50): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0014others(254): Show | 294 | 378 | 0.7778 | -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 | ||
ZNF711_chrX_85238991_85278357 | 85268268 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0013others(38): Show | 58 | 276 | 0.2101 | 2 | c.105 others(15): 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(159): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(117): Show | 162 | 330 | 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 | |||||
ZNF880_chr19_52364923_52390795 | 52383892 | TA | T | frameshift_variant | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
a0002a0005 | a0002c0002a0002c0013a0002c0014others(6): Show | a0002c0002t0001a0002c0013t0001a0002c0014t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0007a0002c0002t0001g0014others(77): Show | 149 | 458 | 0.3253 | -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 |