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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMPRSS4_chr11_118072078_118126890 | 118094815 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0092a0001c0001t0002g0190a0001c0001t0003g0009others(124): Show | 130 | 406 | 0.3202 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | 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 | ||||||
TPSB2_chr16_1223336_1235184 | 1229237 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00642.hp2 HG00735.hp2 others(21): Show |
a0004 | a0004c0004a0004c0014 | a0004c0004t0002a0004c0004t0008a0004c0014t0002 | a0004c0004t0002g0004a0004c0004t0002g0012a0004c0004t0008g0034others(1): Show | 24 | 344 | 0.0698 | 1 | c.452 others(4): Show |
p.Met others(5): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 4/6 | 475/1165 | 452/828 | 151/275 | chr16 | TogoVar | ||
TRIM49_chr11_89792655_89813575 | 89804292 | C | A | stop_gained | HIGH | HG01516.hp2 HG01517.hp1 HG03704.hp1 others(1): Show |
a0007 | a0007c0006 | a0007c0006t0007 | a0007c0006t0007g0011 | 4 | 253 | 0.0158 | 0 | c.178 others(3): Show |
p.Glu others(3): Show |
TRIM49 | ENSG00000168930.13 | transcript | ENST00000329758.5 | protein_coding | 3/8 | 507/2163 | 178/1359 | 60/452 | chr11 | TogoVar | ||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(74): Show | 274 | 424 | 0.6462 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
TRIM64B_chr11_89865438_89883487 | 89875640 | GC | G | frameshift_variant | HIGH | HG00140.hp2 HG00558.hp1 HG00621.hp1 others(32): Show |
a0004a0005a0009 | a0004c0004a0004c0007a0005c0005others(4): Show | a0004c0004t0001a0004c0004t0002a0004c0007t0001others(6): Show | a0004c0004t0001g0011a0004c0004t0001g0024a0004c0004t0001g0056others(19): Show | 35 | 209 | 0.1675 | -1 | c.377 others(4): Show |
p.Ser others(5): Show |
TRIM64B | ENSG00000189253.8 | transcript | ENST00000329862.7 | protein_coding | 2/7 | 497/1653 | 377/1350 | 126/449 | chr11 | 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 | ||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(118): Show | 121 | 286 | 0.4231 | 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(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(209): Show | 212 | 286 | 0.7413 | 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 | ||
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(5): Show |
start_lost others(1): Show |
HIGH | HG01192.hp2 HG01243.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0045a0001c0001t0046 | a0001c0001t0022g0121a0001c0001t0022g0239a0001c0001t0022g0244others(2): Show | 5 | 250 | 0.0200 | 12 | c.-12 others(18): 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 | 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 | ||
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 | ||
VWA7_chr6_31760590_31782328 | 31772983 | T | TGGACAGG others(7): Show |
frameshift_variant | HIGH | HG00099.hp2 HG00738.hp1 HG01069.hp2 others(3): Show |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0021a0004c0003t0001g0217a0004c0003t0001g0218others(1): Show | 6 | 423 | 0.0142 | 14 | c.104 others(23): Show |
p.His others(5): Show |
VWA7 | ENSG00000204396.11 | transcript | ENST00000375688.5 | protein_coding | 7/17 | 1292/2915 | 1057/2676 | 353/891 | chr6 | TogoVar | ||
ZAN_chr7_100728595_100802797 | 100773735 | G | A | stop_gained | HIGH | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(73): Show |
a0001a0026a0029others(4): Show | a0001c0001a0001c0006a0001c0009others(14): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(14): Show | a0001c0001t0001g0094a0001c0001t0001g0097a0001c0001t0001g0106others(73): Show | 76 | 308 | 0.2468 | 0 | c.564 others(4): Show |
p.Trp others(5): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5845/8700 | 5649/8439 | 1883/2812 | chr7 | TogoVar | ||
ZAN_chr7_100728595_100802797 | 100773853 | TG | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0003a0005a0006others(34): Show | a0003c0003a0003c0033a0003c0041others(71): Show | a0003c0003t0001a0003c0033t0001a0003c0041t0001others(71): Show | a0003c0003t0001g0096a0003c0003t0001g0112a0003c0003t0001g0113others(148): Show | 151 | 308 | 0.4903 | -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 | ||
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(11): Show | a0001c0001t0002g0002a0001c0001t0002g0128a0001c0001t0002g0142others(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 | |||||
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 | ||
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 | |
ZIC5_chr13_99957964_99976767 | 99971172 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show |
a0003a0010a0016 | a0003c0003a0003c0004a0003c0021others(9): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(29): Show | a0003c0003t0001g0003a0003c0003t0001g0080a0003c0003t0003g0035others(34): Show | 64 | 410 | 0.1561 | 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 | ||
ZNF135_chr19_58054282_58074755 | 58068050 | C | G | stop_gained | HIGH | NA20905.hp2 | a0012 | a0012c0015 | a0012c0015t0003 | a0012c0015t0003g0006 | 1 | 434 | 0.0023 | 0 | c.156 others(4): Show |
p.Tyr others(4): Show |
ZNF135 | ENSG00000176293.20 | transcript | ENST00000313434.10 | protein_coding | 5/5 | 1629/3334 | 1566/1977 | 522/658 | chr19 | 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 | ||
ZNF266_chr19_9407429_9440573 | 9414653 | G | C | stop_gained | HIGH | NA20905.hp1 | a0006 | a0006c0012 | a0006c0012t0003 | a0006c0012t0003g0054 | 1 | 402 | 0.0025 | 0 | c.473 others(3): Show |
p.Ser others(4): Show |
ZNF266 | ENSG00000174652.20 | transcript | ENST00000592904.7 | protein_coding | 11/11 | 1320/3544 | 473/1851 | 158/616 | chr19 | TogoVar | ||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0000 | a0000c0002a0000c0005a0000c0008others(4): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0006others(7): Show | a0000c0002t0002g0002a0000c0002t0002g0017a0000c0002t0002g0025others(33): Show | 109 | 410 | 0.2659 | 0 | c.201 others(4): Show |
p.Ter others(11): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 2122/2573 | 2015/2016 | 672/671 | chr19 | TogoVar | ||
ZNF480_chr19_52292169_52330922 | 52300416 | CTG | C | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(11): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0015others(157): Show | 220 | 378 | 0.5820 | -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 | |
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 | ||
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 | |||||
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 |