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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||||||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(31): Show | 193 | 436 | 0.4427 | -1 | c.103 others(5): Show |
p.Glu others(5): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 1294/3493 | 1032/1566 | 344/521 | chr5 | TogoVar | ||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(173): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(24): Show | 176 | 270 | 0.6519 | 0 | c.432 others(5): Show |
TMEM216 | ENSG00000187049.11 | transcript | ENST00000515837.7 | protein_coding | 4/4 | chr11 | TogoVar | ||||||
TMEM67_chr8_93749894_93823121 | 93755751 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00673.hp1 HG00741.hp2 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0275a0001c0001t0001g0279a0001c0001t0001g0282others(16): Show | 19 | 318 | 0.0598 | 1 | c.224 others(6): Show |
TMEM67 | ENSG00000164953.17 | transcript | ENST00000453321.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0015a0002c0018others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0005others(79): Show | 100 | 394 | 0.2538 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
TMPRSS11A | ENSG00000187054.16 | transcript | ENST00000508048.6 | protein_coding | 1/10 | 103/3304 | 3/1257 | 1/418 | chr4 | TogoVar | ||
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 | a0001c0005t0001g0082a0001c0005t0001g0120a0001c0005t0001g0121others(118): Show | 125 | 348 | 0.3592 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | 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 | ||||||
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0005others(1): Show | a0002c0002t0000a0003c0003t0000a0005c0005t0000others(1): Show | a0002c0002t0000g0000a0003c0003t0000g0000a0005c0005t0000g0000others(1): Show | 65 | 276 | 0.2355 | 1 | c.772 others(4): Show |
p.Trp others(5): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 1/1 | 773/1182 | 773/1182 | 258/393 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGCA others(2): Show |
start_lost others(1): Show |
HIGH | HG01069.hp1 HG01891.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0047a0001c0001t0048others(2): Show | a0001c0001t0030g0243a0001c0001t0030g0248a0001c0001t0047g0183others(3): Show | 6 | 250 | 0.0240 | 9 | c.-9_ others(14): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | 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 | a0002c0002a0002c0007a0002c0010others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0024a0002c0002t0001g0026a0002c0002t0001g0027others(38): Show | 41 | 322 | 0.1273 | -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 | ||
USP17L15_chr4_9229385_9241046 | 9234580 | G | T | stop_gained | HIGH | HG00735.hp2 HG01081.hp2 NA20805.hp1 |
a0011 | a0011c0058a0011c0059a0011c0060 | a0011c0058t0000a0011c0059t0000a0011c0060t0000 | a0011c0058t0000g0000a0011c0059t0000g0000a0011c0060t0000g0000 | 3 | 110 | 0.0273 | 0 | c.196 others(3): Show |
p.Glu others(3): Show |
USP17L15 | ENSG00000223569.8 | transcript | ENST00000456464.2 | protein_coding | 1/1 | 196/1662 | 196/1662 | 66/553 | chr4 | TogoVar | ||
USP17L15_chr4_9229385_9241046 | 9235792 | A | T | stop_gained | HIGH | HG01074.hp1 HG02258.hp2 HG02735.hp1 others(3): Show |
a0007a0009a0033 | a0007c0008a0007c0041a0009c0062others(1): Show | a0007c0008t0000a0007c0041t0000a0009c0062t0000others(1): Show | a0007c0008t0000g0000a0007c0041t0000g0000a0009c0062t0000g0000others(1): Show | 6 | 110 | 0.0546 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L15 | ENSG00000223569.8 | transcript | ENST00000456464.2 | protein_coding | 1/1 | 1408/1662 | 1408/1662 | 470/553 | chr4 | TogoVar | ||
USP17L15_chr4_9229385_9241046 | 9235977 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001a0002a0003others(48): Show | a0001c0001a0001c0013a0001c0014others(61): Show | a0001c0001t0000a0001c0013t0000a0001c0014t0000others(61): Show | a0001c0001t0000g0000a0001c0013t0000g0000a0001c0014t0000g0000others(61): Show | 109 | 110 | 0.9909 | 0 | c.159 others(4): Show |
p.Trp others(4): Show |
USP17L15 | ENSG00000223569.8 | transcript | ENST00000456464.2 | protein_coding | 1/1 | 1593/1662 | 1593/1662 | 531/553 | 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 | ||
VCX2_chrX_8164944_8176267 | 8170053 | AG | A | frameshift_variant | HIGH | NA20805.hp1 | a0020 | a0020c0021 | a0020c0021t0002 | a0020c0021t0002g0023 | 1 | 115 | 0.0087 | -1 | c.398 others(4): Show |
p.Pro others(5): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 3/3 | 705/815 | 398/420 | 133/139 | chrX | TogoVar | ||
VCX2_chrX_8164944_8176267 | 8170115 | G | GT | frameshift_variant | HIGH | NA20805.hp1 | a0020 | a0020c0021 | a0020c0021t0002 | a0020c0021t0002g0023 | 1 | 115 | 0.0087 | 1 | c.336 others(4): Show |
p.Pro others(5): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 3/3 | 643/815 | 336/420 | 112/139 | chrX | TogoVar | ||
VCX2_chrX_8164944_8176267 | 8170127 | C | CG | frameshift_variant | HIGH | NA20805.hp1 | a0020 | a0020c0021 | a0020c0021t0002 | a0020c0021t0002g0023 | 1 | 115 | 0.0087 | 1 | c.324 others(4): Show |
p.Glu others(5): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 3/3 | 631/815 | 324/420 | 108/139 | chrX | TogoVar | ||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(234): Show | 239 | 358 | 0.6676 | 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 | ||
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 | ||
WNT16_chr7_121324000_121346104 | 121329367 | C | A | stop_gained | HIGH | NA20805.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0028 | 1 | 410 | 0.0024 | 0 | c.75C others(2): Show |
p.Tyr others(3): Show |
WNT16 | ENSG00000002745.13 | transcript | ENST00000222462.3 | protein_coding | 1/4 | 368/3150 | 75/1098 | 25/365 | chr7 | 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 | ||
ZAN_chr7_100728595_100802797 | 100729949 | GGCTCACT others(13137): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(48): Show |
a0002a0016a0017others(9): Show | a0002c0002a0016c0022a0017c0105others(12): Show | a0002c0002t0002a0016c0022t0002a0017c0105t0002others(12): Show | a0002c0002t0002g0001a0002c0002t0002g0006a0002c0002t0002g0007others(47): Show | 51 | 308 | 0.1656 | -13144 | c.-38 others(14): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 1/48 | 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 |
a0002a0004a0009others(13): Show | a0002c0002a0004c0004a0004c0051others(15): Show | a0002c0002t0002a0004c0004t0001a0004c0051t0001others(15): Show | a0002c0002t0002g0001a0002c0002t0002g0006a0002c0002t0002g0007others(76): Show | 80 | 308 | 0.2597 | 0 | c.662 others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/47 | 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 | ||
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0016a0002c0017others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(8): Show | a0002c0002t0003g0002a0002c0002t0003g0007a0002c0002t0003g0011others(23): Show | 118 | 382 | 0.3089 | 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 | |
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 | ||
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 | ||
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 | |||||
ZNF419_chr19_57482750_57501098 | 57492212 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0002a0005 | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(32): Show | a0002c0002t0004g0003a0002c0002t0004g0028a0002c0002t0004g0029others(68): Show | 139 | 418 | 0.3325 | 0 | c.298 others(5): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 4/4 | 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 | |||||
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 | ||||||
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 | ||
ZNF681_chr19_23734195_23763891 | 23744939 | CCA | C | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0003a0003c0003t0026others(2): Show | a0003c0003t0001g0005a0003c0003t0001g0027a0003c0003t0001g0029others(26): Show | 40 | 394 | 0.1015 | -2 | c.609 others(9): Show |
p.Cys others(5): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 4/4 | 752/6497 | 609/1938 | 203/645 | 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 | |||||
ZNF77_chr19_2928218_2949971 | 2936537 | G | A | stop_gained | HIGH | HG01255.hp1 HG01257.hp2 HG01258.hp1 others(3): Show |
a0004a0020 | a0004c0007a0020c0015 | a0004c0007t0001a0020c0015t0001 | a0004c0007t0001g0137a0004c0007t0001g0176a0004c0007t0001g0182others(3): Show | 6 | 448 | 0.0134 | 0 | c.298 others(3): Show |
p.Gln others(4): Show |
ZNF77 | ENSG00000175691.9 | transcript | ENST00000314531.5 | protein_coding | 3/4 | 429/2040 | 298/1638 | 100/545 | chr19 | TogoVar | ||
ZNF80_chr3_114229631_114242578 | 114236340 | A | C | stop_gained | HIGH | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(64): Show |
a0003a0007 | a0003c0003a0007c0009 | a0003c0003t0003a0003c0003t0007a0003c0003t0014others(4): Show | a0003c0003t0003g0000a0003c0003t0007g0000a0003c0003t0014g0000others(4): Show | 67 | 426 | 0.1573 | 0 | c.735 others(3): Show |
p.Tyr others(4): Show |
ZNF80 | ENSG00000174255.8 | transcript | ENST00000482457.4 | protein_coding | 1/1 | 1239/2948 | 735/822 | 245/273 | chr3 | TogoVar | ||
ZNF883_chr9_112983129_113017192 | 112997239 | G | A | stop_gained | HIGH | HG03704.hp2 HG03710.hp2 HG04115.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0049a0002c0002t0114others(1): Show | a0002c0002t0009g0114a0002c0002t0009g0131a0002c0002t0049g0046others(2): Show | 6 | 446 | 0.0135 | 0 | c.102 others(4): Show |
p.Arg others(4): Show |
ZNF883 | ENSG00000228623.9 | transcript | ENST00000639662.2 | protein_coding | 5/5 | 2260/11370 | 1021/1140 | 341/379 | chr9 | 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 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(284): Show | 295 | 322 | 0.9162 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(215): Show | 223 | 322 | 0.6926 | 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 | |
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 |