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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show |
a0002a0006a0010 | a0002c0002a0006c0009a0010c0010 | a0002c0002t0001a0006c0009t0001a0010c0010t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 |
66 | 294 | 0.2245 | 0 | c.749 others(3): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 749/930 | 749/930 | 250/309 | chr12 | TogoVar | |||
TAS2R46_chr12_11056365_11067294 | 11062032 | CA | C | frameshift_variant | HIGH | HG00642.hp1 HG02129.hp2 NA19068.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 4 | 294 | 0.0136 | -1 | c.262 others(4): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 262/930 | 262/930 | 88/309 | chr12 | TogoVar | |||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
273 | 307 | 0.8893 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TDRD12_chr19_32714767_32834580 | 32826678 | AAC | A | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show |
a0002a0003a0005others(6): Show | a0002c0003a0002c0010a0003c0002others(7): Show | a0002c0003t0001a0002c0003t0011a0002c0003t0033others(20): Show | a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0098 others(110): Show |
115 | 378 | 0.3042 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TEX44_chr2_231587864_231599276 | 231593752 | T | TC | frameshift_variant | HIGH | HG00438.hp1 NA18956.hp1 NA18961.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 13 | 436 | 0.0298 | 1 | c.801 others(8): Show |
p.Glu others(5): Show |
TEX44 | ENSG00000177673.4 | transcript | ENST00000313965.4 | protein_coding | 1/1 | 890/1413 | 802/1188 | 268/395 | chr2 | TogoVar | |||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show |
165 | 301 | 0.5482 | 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 | |||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(23): Show |
175 | 267 | 0.6554 | 0 | c.432 others(5): Show |
TMEM216 | ENSG00000187049.11 | transcript | ENST00000515837.7 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
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 | a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 others(116): Show |
130 | 404 | 0.3218 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
TOB1_chr17_50857223_50871354 | 50863817 | C | CATCCAAA others(3): Show |
frameshift_variant | HIGH | NA19068.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0045 | 1 | 418 | 0.0024 | 10 | c.200 others(17): Show |
p.Ile others(4): Show |
TOB1 | ENSG00000141232.5 | transcript | ENST00000499247.3 | protein_coding | 2/2 | 643/2238 | 200/1038 | 67/345 | chr17 | TogoVar | |||
TOB1_chr17_50857223_50871354 | 50863867 | T | A | stop_gained | HIGH | NA19068.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0045 | 1 | 418 | 0.0024 | 0 | c.151 others(3): Show |
p.Lys others(3): Show |
TOB1 | ENSG00000141232.5 | transcript | ENST00000499247.3 | protein_coding | 2/2 | 594/2238 | 151/1038 | 51/345 | chr17 | TogoVar | |||
TOB1_chr17_50857223_50871354 | 50863967 | G | T | stop_gained | HIGH | NA19068.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0045 | 1 | 418 | 0.0024 | 0 | c.51C others(2): Show |
p.Tyr others(3): Show |
TOB1 | ENSG00000141232.5 | transcript | ENST00000499247.3 | protein_coding | 2/2 | 494/2238 | 51/1038 | 17/345 | chr17 | TogoVar | |||
TRIM16_chr17_15622966_15689311 | 15651467 | G | T | stop_gained | HIGH | HG00597.hp2 NA19068.hp1 |
a0008 | a0008c0018a0008c0019 | a0008c0018t0002a0008c0019t0002 | a0008c0018t0002g0311 a0008c0019t0002g0312 |
2 | 358 | 0.0056 | 0 | c.143 others(3): Show |
p.Ser others(3): Show |
TRIM16 | ENSG00000221926.13 | transcript | ENST00000649191.2 | protein_coding | 7/12 | 1157/3358 | 143/1695 | 48/564 | 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 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show |
177 | 426 | 0.4155 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | 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 | |||
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0004a0005 | a0002c0002a0004c0003a0005c0005others(1): Show | a0002c0002t0001a0004c0003t0001a0005c0005t0001others(1): Show | a0002c0002t0001g0000 a0004c0003t0001g0000 a0005c0005t0001g0000 others(1): Show |
65 | 274 | 0.2372 | 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 | ||
UGT1A4_chr2_233713736_233778300 | 233719112 | C | T | stop_gained | HIGH | NA19068.hp1 | a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0228 | 1 | 330 | 0.0030 | 0 | c.292 others(3): Show |
p.Gln others(3): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/5 | 377/2431 | 292/1605 | 98/534 | chr2 | TogoVar | |||
USP17L18_chr4_9243630_9255222 | 9249066 | C | A | stop_gained | HIGH | HG01070.hp1 HG01074.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0009a0001c0052 | a0001c0009t0001a0001c0052t0001 | a0001c0009t0001g0000 a0001c0052t0001g0000 |
8 | 210 | 0.0381 | 0 | c.437 others(3): Show |
p.Ser others(4): Show |
USP17L18 | ENSG00000250844.3 | transcript | ENST00000504209.1 | protein_coding | 1/1 | 437/1593 | 437/1593 | 146/530 | chr4 | TogoVar | |||
USP17L19_chr4_9248378_9259970 | 9253398 | C | G | stop_gained | HIGH | HG00735.hp1 HG01074.hp2 HG01257.hp2 others(5): Show |
a0002 | a0002c0011a0002c0075a0002c0076others(1): Show | a0002c0011t0001a0002c0075t0001a0002c0076t0001others(1): Show | a0002c0011t0001g0000 a0002c0075t0001g0000 a0002c0076t0001g0000 others(1): Show |
8 | 206 | 0.0388 | 0 | c.21C others(2): Show |
p.Tyr others(2): Show |
USP17L19 | ENSG00000248920.3 | transcript | ENST00000515566.1 | protein_coding | 1/1 | 21/1593 | 21/1593 | 7/530 | chr4 | 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 | |||
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 | |||||||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0009a0012others(7): Show | a0002c0002a0002c0042a0002c0043others(9): Show | a0002c0002t0002a0002c0042t0002a0002c0043t0002others(10): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(36): Show |
72 | 372 | 0.1935 | 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 |
a0002a0009a0012others(3): Show | a0002c0002a0002c0039a0002c0040others(12): Show | a0002c0002t0002a0002c0039t0002a0002c0040t0002others(12): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(37): Show |
73 | 372 | 0.1962 | 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 | |||
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 | 100773735 | G | A | stop_gained | HIGH | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(73): Show |
a0001a0021a0024others(3): Show | a0001c0001a0001c0006a0001c0011others(13): Show | a0001c0001t0001a0001c0006t0001a0001c0011t0001others(13): Show | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0076 others(73): Show |
76 | 306 | 0.2484 | 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(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 | 100779516 | A | AGGGC | frameshift_variant | HIGH | HG01928.hp1 HG02015.hp1 HG02132.hp2 others(19): Show |
a0002a0005 | a0002c0069a0005c0005a0005c0009others(3): Show | a0002c0069t0001a0005c0005t0001a0005c0009t0001others(3): Show | a0002c0069t0001g0180 a0005c0005t0001g0069 a0005c0005t0001g0070 others(19): Show |
22 | 306 | 0.0719 | 4 | c.639 others(13): Show |
p.Ala others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/48 | 6591/8700 | 6395/8439 | 2132/2812 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ZC2HC1A_chr8_78661089_78724765 | 78686431 | G | GTTTA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0009 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 others(36): Show |
56 | 86 | 0.6512 | 4 | c.211 others(15): Show |
ZC2HC1A | ENSG00000104427.13 | transcript | ENST00000263849.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZC3H3_chr8_143432659_143546447 | 143440217 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(50): Show |
a0003a0010a0013others(3): Show | a0003c0003a0003c0042a0003c0051others(5): Show | a0003c0003t0002a0003c0003t0006a0003c0042t0002others(6): Show | a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 others(50): Show |
53 | 350 | 0.1514 | 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 | |||
ZDHHC11B_chr5_705355_789729 | 766918 | A | C | start_lost others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(77): Show | a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0061 others(207): Show |
215 | 270 | 0.7963 | 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 | |||
ZNF414_chr19_8504678_8519167 | 8511858 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp2 HG01109.hp1 others(27): Show |
a0004a0005a0006 | a0004c0004a0004c0010a0005c0005others(2): Show | a0004c0004t0001a0004c0004t0011a0004c0010t0001others(8): Show | a0004c0004t0001g0008 a0004c0004t0001g0016 a0004c0004t0011g0044 others(12): Show |
30 | 420 | 0.0714 | 1 | c.632 others(4): Show |
p.Ala others(5): Show |
ZNF414 | ENSG00000133250.14 | transcript | ENST00000393927.9 | protein_coding | 5/8 | 753/2307 | 632/1173 | 211/390 | 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 | |||||||
ZNF528_chr19_52392849_52423401 | 52401662 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp2 HG00673.hp2 others(38): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0122 a0001c0001t0001g0175 others(9): Show |
41 | 227 | 0.1806 | 2 | c.-13 others(15): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | 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 | 55482009 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00642.hp1 others(29): Show |
a0004a0007a0016others(2): Show | a0004c0015a0004c0017a0004c0024others(20): Show | a0004c0015t0001a0004c0017t0001a0004c0024t0001others(20): Show | a0004c0015t0001g0001 a0004c0015t0001g0007 a0004c0015t0001g0017 others(28): Show |
32 | 419 | 0.0764 | 1 | c.821 others(4): Show |
p.Pro others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1090/3562 | 822/3180 | 274/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF682_chr19_19999418_20044505 | 20006081 | ACT | A | frameshift_variant | HIGH | NA18946.hp1 NA18951.hp2 NA18972.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0011 a0005c0007t0001g0038 a0005c0007t0001g0173 |
8 | 382 | 0.0209 | -2 | c.141 others(11): Show |
p.Arg others(5): Show |
ZNF682 | ENSG00000197124.12 | transcript | ENST00000397165.7 | protein_coding | 4/4 | 1580/3244 | 1419/1497 | 473/498 | chr19 | 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 | ||||||
ZNF880_chr19_52364923_52390795 | 52383892 | TA | T | frameshift_variant | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
a0002a0005 | a0002c0002a0002c0012a0002c0013others(6): Show | a0002c0002t0002a0002c0012t0002a0002c0013t0002others(6): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 others(77): Show |
149 | 456 | 0.3268 | -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 |
a0002a0005a0011others(1): Show | a0002c0002a0002c0014a0005c0006others(2): Show | a0002c0002t0002a0002c0014t0002a0005c0006t0002others(2): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 others(72): Show |
142 | 424 | 0.3349 | 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 | 22756441 | CTCTTCAC others(1250): Show |
C | stop_lost others(1): Show |
HIGH | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 | 1 | 342 | 0.0029 | -1257 | c.221 others(9): Show |
p.Glu others(19): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 4/4 | 3602/7861 | 2211/2595 | 737/864 | chr19 | TogoVar | |||
ZNG1E_chr9_65670928_65739041 | 65690966 | G | C | splice_acceptor_variant others(1): Show |
HIGH | NA18980.hp1 NA19068.hp2 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0001 | a0002c0002t0002g0022 a0004c0005t0001g0079 |
2 | 202 | 0.0099 | 0 | c.431 others(5): Show |
ZNG1E | ENSG00000147996.17 | transcript | ENST00000382405.8 | protein_coding | 4/14 | chr9 | TogoVar | |||||||
ZNG1E_chr9_65670928_65739041 | 65731675 | G | T | stop_gained | HIGH | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0002a0002c0002t0006a0007c0010t0002 | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0014 others(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 |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0002a0002c0002t0006a0007c0010t0002 | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0014 others(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 |