| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TMEM97_chr17_28314200_28333685 | 28319240 | A | G | start_lost | HIGH | NA18963.hp1 NA19082.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 2 | 374 | 0.0054 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TMEM97 | ENSG00000109084.14 | transcript | ENST00000226230.8 | protein_coding | 1/3 | 41/2463 | 1/531 | 1/176 | chr17 | TogoVar | ||
| TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251a0002c0003t0001g0007a0002c0003t0001g0011others(80): Show | 102 | 472 | 0.2161 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55264123 | AATTACAC others(6934): Show |
A | exon_loss_variant | HIGH | NA18941.hp1 NA18943.hp2 NA18963.hp2 others(6): Show |
a0000 | a0000c0004 | a0000c0004t0005a0000c0004t0006 | a0000c0004t0005g0007a0000c0004t0006g0007 | 9 | 272 | 0.0331 | -6941 | c.45- others(11): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0012a0013 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005a0002c0002t0002g0007a0002c0002t0002g0009others(58): Show | 139 | 424 | 0.3278 | 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 | ||
| TRIM61_chr4_164963281_164982657 | 164970002 | T | C | start_lost | HIGH | NA18963.hp2 NA18967.hp1 NA18969.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0019 | 3 | 408 | 0.0074 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TRIM61 | ENSG00000183439.10 | transcript | ENST00000710271.1 | protein_coding | 3/3 | 603/2324 | 1/1416 | 1/471 | chr4 | TogoVar | ||
| TRPM4_chr19_49152792_49216836 | 49201994 | CGGAGCCC others(21): Show |
C | frameshift_variant | HIGH | NA18963.hp2 | a0014 | a0014c0027 | a0014c0027t0001 | a0014c0027t0001g0203 | 1 | 312 | 0.0032 | -28 | c.298 others(37): Show |
p.Glu others(5): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 20/25 | 3062/4058 | 2987/3645 | 996/1214 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| TTC24_chr1_156574723_156592719 | 156583439 | GC | G | frameshift_variant | HIGH | HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show |
a0003a0009a0010 | a0003c0004a0009c0010a0010c0011 | a0003c0004t0001a0003c0004t0006a0003c0004t0012others(2): Show | a0003c0004t0001g0006a0003c0004t0001g0017a0003c0004t0001g0024others(9): Show | 26 | 442 | 0.0588 | -1 | c.114 others(5): Show |
p.Gln others(5): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 5/11 | 1184/2958 | 1144/1749 | 382/582 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||||||
| UBL4A_chrX_154478717_154491615 | 154485855 | C | CG | frameshift_variant | HIGH | NA18963.hp2 | a0002 | a0002c0003 | a0002c0003t0019 | a0002c0003t0019g0009 | 1 | 306 | 0.0033 | 1 | c.278 others(4): Show |
p.Gln others(4): Show |
UBL4A | ENSG00000102178.13 | transcript | ENST00000369660.9 | protein_coding | 3/4 | 309/2327 | 278/474 | 93/157 | chrX | TogoVar | ||
| UGT2B10_chr4_68810994_68837023 | 68822269 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0023a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(19): Show | 63 | 461 | 0.1367 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
| UGT3A1_chr5_35946006_35996390 | 35955742 | G | A | stop_gained | HIGH | NA18963.hp1 | a0005 | a0005c0010 | a0005c0010t0006 | a0005c0010t0006g0195 | 1 | 398 | 0.0025 | 0 | c.119 others(4): Show |
p.Arg others(4): Show |
UGT3A1 | ENSG00000145626.12 | transcript | ENST00000274278.8 | protein_coding | 6/7 | 1348/4918 | 1198/1572 | 400/523 | chr5 | 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 | ||
| 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 | ||
| VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0008a0011others(7): Show | a0002c0002a0002c0046a0002c0047others(9): Show | a0002c0002t0004a0002c0046t0004a0002c0047t0007others(11): Show | a0002c0002t0004g0001a0002c0002t0004g0002a0002c0002t0004g0003others(43): Show | 72 | 374 | 0.1925 | 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 |
a0002a0008a0011others(3): Show | a0002c0002a0002c0043a0002c0044others(12): Show | a0002c0002t0004a0002c0043t0005a0002c0044t0014others(12): Show | a0002c0002t0004g0001a0002c0002t0004g0002a0002c0002t0004g0003others(44): Show | 73 | 374 | 0.1952 | 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 | ||
| ZC3H3_chr8_143432659_143546447 | 143440217 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(50): Show |
a0003a0012a0013others(3): Show | a0003c0003a0003c0042a0003c0051others(5): Show | a0003c0003t0002a0003c0003t0006a0003c0042t0002others(6): Show | a0003c0003t0002g0078a0003c0003t0002g0079a0003c0003t0002g0081others(50): Show | 53 | 352 | 0.1506 | 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 | ||
| 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 | ||
| ZNF154_chr19_57691275_57714204 | 57702111 | TCCCACAT others(24): Show |
T | frameshift_variant | HIGH | NA18963.hp1 | a0009 | a0009c0013 | a0009c0013t0051 | a0009c0013t0051g0152 | 1 | 446 | 0.0022 | -31 | c.807 others(38): Show |
p.Glu others(5): Show |
ZNF154 | ENSG00000179909.16 | transcript | ENST00000684351.1 | protein_coding | 3/3 | 1070/6907 | 807/1314 | 269/437 | chr19 | TogoVar | ||
| ZNF185_chrX_152893067_152978474 | 152914723 | A | AC | frameshift_variant | HIGH | NA18963.hp1 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0148 | 1 | 260 | 0.0039 | 1 | c.50d others(3): Show |
p.Gly others(4): Show |
ZNF185 | ENSG00000147394.20 | transcript | ENST00000695776.1 | protein_coding | 3/25 | 268/4587 | 51/2169 | 17/722 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ZNF185_chrX_152893067_152978474 | 152914775 | A | AC | frameshift_variant | HIGH | NA18963.hp1 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0148 | 1 | 260 | 0.0039 | 1 | c.101 others(4): Show |
p.Leu others(4): Show |
ZNF185 | ENSG00000147394.20 | transcript | ENST00000695776.1 | protein_coding | 3/25 | 319/4587 | 102/2169 | 34/722 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ZNF185_chrX_152893067_152978474 | 152915130 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | NA18963.hp1 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0148 | 1 | 260 | 0.0039 | 1 | c.159 others(6): Show |
ZNF185 | ENSG00000147394.20 | transcript | ENST00000695776.1 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ZNF185_chrX_152893067_152978474 | 152915149 | C | CAG | frameshift_variant | HIGH | NA18963.hp1 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0148 | 1 | 260 | 0.0039 | 2 | c.171 others(9): Show |
p.Gly others(4): Show |
ZNF185 | ENSG00000147394.20 | transcript | ENST00000695776.1 | protein_coding | 4/25 | 390/4587 | 173/2169 | 58/722 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ZNF185_chrX_152893067_152978474 | 152945412 | A | AG | frameshift_variant | HIGH | NA18963.hp2 | a0008 | a0008c0011 | a0008c0011t0003 | a0008c0011t0003g0016 | 1 | 260 | 0.0039 | 1 | c.145 others(5): Show |
p.Ser others(5): Show |
ZNF185 | ENSG00000147394.20 | transcript | ENST00000695776.1 | protein_coding | 18/25 | 1672/4587 | 1455/2169 | 485/722 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ZNF444_chr19_56136287_56165893 | 56159891 | A | AC | frameshift_variant | HIGH | HG01496.hp2 NA18963.hp1 NA18965.hp1 others(3): Show |
a0003 | a0003c0006a0003c0008a0003c0014 | a0003c0006t0001a0003c0006t0002a0003c0008t0003others(2): Show | a0003c0006t0001g0001a0003c0006t0001g0127a0003c0006t0002g0012others(3): Show | 6 | 416 | 0.0144 | 1 | c.676 others(4): Show |
p.Arg others(5): Show |
ZNF444 | ENSG00000167685.15 | transcript | ENST00000337080.8 | protein_coding | 5/5 | 944/1943 | 677/984 | 226/327 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| ZNF492_chr19_22629324_22672671 | 22634476 | T | G | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(65): Show |
a0002a0005a0008others(1): Show | a0002c0002a0002c0013a0005c0005others(2): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0037others(8): Show | a0002c0002t0003g0003a0002c0002t0003g0007a0002c0002t0003g0008others(52): Show | 68 | 366 | 0.1858 | 0 | c.-94 others(5): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
| ZNF528_chr19_52392849_52423401 | 52401662 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp2 HG00673.hp2 others(38): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0141others(15): Show | 41 | 476 | 0.0861 | 2 | c.-13 others(15): 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(155): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(101): Show | 158 | 386 | 0.4093 | 0 | c.-16 others(6): Show |
ZNF567 | ENSG00000189042.14 | transcript | ENST00000682579.1 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| ZNF865_chr19_55600647_55622269 | 55614531 | A | AC | frameshift_variant | HIGH | HG01255.hp1 HG02572.hp2 HG03098.hp1 others(3): Show |
a0004a0011a0012 | a0004c0008a0011c0017a0012c0016 | a0004c0008t0001a0011c0017t0001a0012c0016t0001 | a0004c0008t0001g0001a0004c0008t0001g0002a0004c0008t0001g0048others(3): Show | 6 | 430 | 0.0140 | 1 | c.915 others(4): Show |
p.Ala others(5): Show |
ZNF865 | ENSG00000261221.5 | transcript | ENST00000568956.2 | protein_coding | 2/2 | 1028/3763 | 916/3180 | 306/1059 | 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 | 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 | |
| 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 |
a0002a0005a0012others(1): Show | a0002c0002a0002c0015a0005c0006others(2): Show | a0002c0002t0001a0002c0015t0001a0005c0006t0001others(2): Show | a0002c0002t0001g0001a0002c0002t0001g0007a0002c0002t0001g0014others(72): Show | 142 | 458 | 0.3100 | 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 | |
| ZNF99_chr19_22747183_22789151 | 22757390 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(47): Show |
a0000 | a0000c0004a0000c0006a0000c0007 | a0000c0004t0003a0000c0004t0011a0000c0004t0015others(7): Show | a0000c0004t0003g0002a0000c0004t0003g0017a0000c0004t0003g0271others(43): Show | 50 | 344 | 0.1454 | 1 | c.251 others(10): Show |
p.Met others(5): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 4/4 | 2653/7861 | 2518/2595 | 840/864 | chr19 | TogoVar | ||
| ZNG1E_chr9_65670928_65739041 | 65731675 | G | T | stop_gained | HIGH | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0002c0002t0006a0006c0010t0002 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0014others(52): Show | 56 | 202 | 0.2772 | 0 | c.862 others(3): Show |
p.Glu others(4): Show |
ZNG1E | ENSG00000147996.17 | transcript | ENST00000382405.8 | protein_coding | 12/15 | 911/1662 | 862/1188 | 288/395 | chr9 | TogoVar | ||
| ZNG1E_chr9_65670928_65739041 | 65733107 | C | T | stop_gained | HIGH | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0002c0002t0006a0006c0010t0002 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0014others(52): Show | 56 | 202 | 0.2772 | 0 | c.106 others(4): Show |
p.Arg others(4): Show |
ZNG1E | ENSG00000147996.17 | transcript | ENST00000382405.8 | protein_coding | 14/15 | 1115/1662 | 1066/1188 | 356/395 | chr9 | TogoVar |