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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMPRSS6_chr22_37060436_37114713 | 37069345 | CTGGGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0001c0009others(21): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0001others(22): Show | a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(112): Show |
125 | 306 | 0.4085 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TMPRSS7_chr3_112029736_112086269 | 112061824 | C | T | stop_gained | HIGH | HG02257.hp1 HG02886.hp2 HG03516.hp2 others(1): Show |
a0008 | a0008c0021a0008c0022 | a0008c0021t0001a0008c0022t0001a0008c0022t0010 | a0008c0021t0001g0050 a0008c0021t0001g0051 a0008c0022t0001g0371 others(1): Show |
4 | 418 | 0.0096 | 0 | c.134 others(4): Show |
p.Arg others(4): Show |
TMPRSS7 | ENSG00000176040.14 | transcript | ENST00000452346.7 | protein_coding | 11/18 | 1458/2827 | 1348/2532 | 450/843 | chr3 | TogoVar | |||
TNFAIP3_chr6_137862259_137888312 | 137867485 | GCCCGGAG others(17): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00639.hp2 HG01099.hp1 HG01106.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0002g0002 a0002c0002t0002g0084 a0002c0003t0002g0006 others(5): Show |
14 | 358 | 0.0391 | -24 | c.-21 others(34): Show |
TNFAIP3 | ENSG00000118503.18 | transcript | ENST00000612899.5 | protein_coding | 1/9 | 3668 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TNFAIP8_chr5_119351019_119404688 | 119392800 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00741.hp2 HG01496.hp2 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0015a0001c0002t0018others(22): Show | a0001c0002t0007g0211 a0001c0002t0007g0215 a0001c0002t0007g0220 others(37): Show |
42 | 381 | 0.1102 | 1 | c.32- others(5): Show |
TNFAIP8 | ENSG00000145779.8 | transcript | ENST00000504771.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TPGS1_chr19_502497_524654 | 519258 | G | GC | frameshift_variant | HIGH | HG00735.hp2 HG01978.hp1 HG02074.hp1 others(12): Show |
a0002 | a0002c0003a0002c0006a0002c0016 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(3): Show | a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0020 others(11): Show |
15 | 341 | 0.0440 | 1 | c.711 others(4): Show |
p.Ala others(5): Show |
TPGS1 | ENSG00000141933.9 | transcript | ENST00000359315.6 | protein_coding | 2/2 | 722/1114 | 712/873 | 238/290 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
TPSD1_chr16_1251069_1264008 | 1256558 | AG | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show |
a0002a0004 | a0002c0002a0002c0012a0002c0018others(3): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0016others(23): Show | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(28): Show |
72 | 268 | 0.2687 | -1 | c.127 others(4): Show |
p.Glu others(4): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 2/5 | 339/1573 | 127/729 | 43/242 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
TRAFD1_chr12_112120560_112158604 | 112142256 | C | T | stop_gained | HIGH | HG03516.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0131 | 1 | 344 | 0.0029 | 0 | c.811 others(3): Show |
p.Gln others(4): Show |
TRAFD1 | ENSG00000135148.12 | transcript | ENST00000412615.7 | protein_coding | 6/12 | 882/2633 | 811/1749 | 271/582 | chr12 | 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 | |||||||
TRIM51_chr11_55878297_55896810 | 55885840 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02970.hp1 HG03516.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0053 | 2 | 434 | 0.0046 | 0 | c.411 others(5): Show |
TRIM51 | ENSG00000124900.12 | transcript | ENST00000449290.6 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
TRIM73_chr7_75390629_75410605 | 75403732 | C | T | stop_gained | HIGH | HG00140.hp1 HG01123.hp1 HG01168.hp2 others(43): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0019 others(14): Show |
46 | 322 | 0.1429 | 0 | c.487 others(3): Show |
p.Arg others(4): Show |
TRIM73 | ENSG00000178809.12 | transcript | ENST00000323819.8 | protein_coding | 3/5 | 687/1350 | 487/753 | 163/250 | chr7 | TogoVar | |||
TYRP1_chr9_12688385_12715285 | 12709125 | T | G | stop_gained | HIGH | HG02451.hp2 HG03195.hp2 HG03516.hp1 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0008 | 3 | 436 | 0.0069 | 0 | c.155 others(4): Show |
p.Tyr others(4): Show |
TYRP1 | ENSG00000107165.13 | transcript | ENST00000388918.10 | protein_coding | 8/8 | 1736/2896 | 1557/1614 | 519/537 | chr9 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show |
120 | 284 | 0.4225 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show |
211 | 284 | 0.7430 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | |||
UNKL_chr16_1358205_1419704 | 1397263 | TCCCCGTG others(254): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(38): Show |
a0002 | a0002c0002a0002c0006a0002c0009others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 others(38): Show |
41 | 299 | 0.1371 | -261 | c.735 others(11): Show |
p.Ser others(5): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 6/15 | 779/5250 | 735/2202 | 245/733 | chr16 | 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 | |||
USP50_chr15_50495562_50551666 | 50529817 | A | AT | frameshift_variant | HIGH | HG01884.hp2 HG02451.hp1 HG02723.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 others(5): Show |
8 | 382 | 0.0209 | 1 | c.915 others(4): Show |
p.Tyr others(5): Show |
USP50 | ENSG00000170236.16 | transcript | ENST00000532404.6 | protein_coding | 6/7 | 1056/1353 | 915/1005 | 305/334 | chr15 | 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 | |||
WDR27_chr6_169452212_169707029 | 169636370 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01069.hp1 HG01099.hp1 HG01257.hp2 others(9): Show |
a0002a0007a0014others(2): Show | a0002c0026a0007c0012a0007c0017others(3): Show | a0002c0026t0003a0007c0012t0003a0007c0012t0004others(6): Show | a0002c0026t0003g0249 a0002c0026t0003g0250 a0007c0012t0003g0246 others(9): Show |
12 | 292 | 0.0411 | 0 | c.200 others(6): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 19/25 | chr6 | TogoVar | |||||||
ZACN_chr17_76074182_76087806 | 76081716 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(86): Show |
a0003a0007a0011 | a0003c0003a0003c0012a0007c0010others(1): Show | a0003c0003t0001a0003c0012t0001a0007c0010t0001others(1): Show | a0003c0003t0001g0001 a0003c0003t0001g0008 a0003c0003t0001g0022 others(5): Show |
89 | 390 | 0.2282 | 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 | |||
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 | |||
ZAN_chr7_100728595_100802797 | 100779751 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(77): Show |
a0003a0004a0008others(10): Show | a0003c0002a0003c0095a0003c0098others(15): Show | a0003c0002t0002a0003c0095t0002a0003c0098t0002others(15): Show | a0003c0002t0002g0001 a0003c0002t0002g0002 a0003c0002t0002g0005 others(76): Show |
80 | 306 | 0.2614 | 0 | c.662 others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/47 | chr7 | TogoVar | |||||||
ZAN_chr7_100728595_100802797 | 100787939 | GGCTTCAG others(28): Show |
G | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(48): Show |
a0002a0010a0012others(9): Show | a0002c0003a0002c0032a0002c0070others(15): Show | a0002c0003t0001a0002c0032t0001a0002c0070t0001others(15): Show | a0002c0003t0001g0055 a0002c0003t0001g0061 a0002c0003t0001g0108 others(48): Show |
51 | 306 | 0.1667 | -35 | c.703 others(44): Show |
p.Phe others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 38/48 | 7228/8700 | 7032/8439 | 2344/2812 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ZC3H12B_chrX_65029826_65512887 | 65497128 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00735.hp2 HG00738.hp1 HG01081.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0002g0131 others(55): Show |
58 | 165 | 0.3515 | 1 | c.609 others(6): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
ZIC5_chr13_99957964_99976767 | 99971172 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show |
a0003a0008a0018 | a0003c0003a0003c0004a0003c0020others(9): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(29): Show | a0003c0003t0001g0003 a0003c0003t0001g0080 a0003c0003t0003g0035 others(34): Show |
64 | 406 | 0.1576 | 1 | c.431 others(4): Show |
p.Pro others(5): Show |
ZIC5 | ENSG00000139800.9 | transcript | ENST00000267294.5 | protein_coding | 1/2 | 595/4497 | 431/1920 | 144/639 | chr13 | TogoVar | |||
ZNF106_chr15_42407823_42496141 | 42422621 | CTA | C | splice_acceptor_variant others(2): Show |
HIGH | HG01891.hp2 HG02055.hp2 HG03209.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0029a0003c0011t0027a0003c0011t0052others(1): Show | a0001c0001t0029g0241 a0003c0011t0027g0223 a0003c0011t0027g0240 others(2): Show |
5 | 262 | 0.0191 | -2 | c.525 others(15): Show |
ZNF106 | ENSG00000103994.18 | transcript | ENST00000564754.7 | protein_coding | 17/21 | 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 | |||
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 | |||||||
ZNF443_chr19_12424706_12446021 | 12431549 | C | CA | frameshift_variant | HIGH | HG02027.hp2 HG02559.hp1 HG03139.hp2 others(5): Show |
a0006a0008a0017 | a0006c0008a0006c0023a0008c0009others(1): Show | a0006c0008t0001a0006c0023t0001a0008c0009t0004others(1): Show | a0006c0008t0001g0109 a0006c0008t0001g0111 a0006c0008t0001g0114 others(4): Show |
8 | 408 | 0.0196 | 1 | c.622 others(4): Show |
p.Trp others(5): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 729/2573 | 622/2016 | 208/671 | 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 | ||
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 | ||
ZNF492_chr19_22629324_22672671 | 22634474 | GGT | G | splice_donor_variant others(2): Show |
HIGH | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(36): Show |
a0004a0006a0009others(1): Show | a0004c0004a0006c0006a0009c0008others(1): Show | a0004c0004t0005a0004c0004t0006a0004c0004t0007others(8): Show | a0004c0004t0005g0209 a0004c0004t0005g0212 a0004c0004t0005g0213 others(36): Show |
39 | 364 | 0.1071 | -2 | c.-94 others(13): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | 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 | |||
ZNF579_chr19_55571774_55585848 | 55578181 | G | GGC | frameshift_variant | HIGH | HG00438.hp1 HG01515.hp2 HG02080.hp1 others(8): Show |
a0008a0015a0027others(1): Show | a0008c0014a0008c0023a0015c0025others(2): Show | a0008c0014t0001a0008c0023t0002a0008c0023t0003others(3): Show | a0008c0014t0001g0016 a0008c0023t0002g0052 a0008c0023t0003g0074 others(4): Show |
11 | 414 | 0.0266 | 2 | c.145 others(11): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1514/2922 | 1458/1689 | 486/562 | chr19 | TogoVar | |||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0009a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(253): Show |
293 | 376 | 0.7793 | -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 | |||
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 | ||
ZNF711_chrX_85238991_85278357 | 85268268 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00621.hp1 HG01346.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0080 a0001c0001t0001g0090 others(16): Show |
19 | 184 | 0.1033 | 1 | c.105 others(7): Show |
ZNF711 | ENSG00000147180.17 | transcript | ENST00000674551.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZNF711_chrX_85238991_85278357 | 85268268 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG02717.hp1 HG02970.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0061 a0001c0001t0002g0124 a0001c0001t0002g0125 others(2): Show |
5 | 170 | 0.0294 | 4 | c.105 others(17): 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 | ||||||
ZNF746_chr7_149467794_149502809 | 149474858 | A | AC | frameshift_variant | HIGH | HG00642.hp1 HG01099.hp1 HG01175.hp2 others(13): Show |
a0002a0010 | a0002c0006a0002c0008a0002c0011others(3): Show | a0002c0006t0001a0002c0006t0002a0002c0008t0001others(4): Show | a0002c0006t0001g0108 a0002c0006t0001g0110 a0002c0006t0001g0199 others(13): Show |
16 | 424 | 0.0377 | 1 | c.150 others(5): Show |
p.Gly others(5): Show |
ZNF746 | ENSG00000181220.18 | transcript | ENST00000458143.7 | protein_coding | 7/7 | 1781/3846 | 1508/1983 | 503/660 | chr7 | TogoVar | |||
ZNF846_chr19_9750357_9773738 | 9752902 | TATAACAA others(6398): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0012 a0002c0002t0004g0098 a0002c0002t0004g0099 others(1): Show |
7 | 370 | 0.0189 | -6405 | c.313 others(13): Show |
ZNF846 | ENSG00000196605.7 | transcript | ENST00000397902.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
ZNF846_chr19_9750357_9773738 | 9759318 | TGGGCTGG others(1833): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0012 a0002c0002t0004g0098 a0002c0002t0004g0099 others(1): Show |
7 | 370 | 0.0189 | -1840 | c.229 others(15): Show |
ZNF846 | ENSG00000196605.7 | transcript | ENST00000397902.7 | protein_coding | 5/6 | 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 | |||
ZNF891_chr12_133099779_133135274 | 133121909 | TA | T | frameshift_variant | HIGH | HG01167.hp2 HG01169.hp1 HG01934.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0009 a0004c0004t0011g0167 a0004c0004t0011g0183 |
7 | 380 | 0.0184 | -1 | c.9de others(2): Show |
p.Met others(3): Show |
ZNF891 | ENSG00000214029.6 | transcript | ENST00000537226.3 | protein_coding | 2/2 | 163/17294 | 9/1635 | 3/544 | chr12 | 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 |