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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0012others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0017others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(50): Show | 131 | 460 | 0.2848 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
SRARP_chr1_15999236_16013807 | 16006244 | GGGGAAAC others(39): Show |
G | frameshift_variant | HIGH | HG03139.hp2 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0008 | 1 | 400 | 0.0025 | -46 | c.409 others(53): Show |
p.Gly others(5): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 2/2 | 477/3039 | 409/510 | 137/169 | chr1 | TogoVar | ||
SRSF3_chr6_36589362_36610600 | 36601940 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0051others(85): Show | 98 | 382 | 0.2565 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
STPG4_chr2_47081991_47160308 | 47155227 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG00735.hp1 HG01109.hp2 others(8): Show |
a0004a0011 | a0004c0004a0004c0005a0011c0009 | a0004c0004t0001a0004c0005t0001a0011c0009t0001 | a0004c0004t0001g0007a0004c0004t0001g0008a0004c0004t0001g0009others(8): Show | 11 | 352 | 0.0313 | 1 | c.24d others(3): Show |
p.Ala others(3): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 1/7 | 81/821 | 24/747 | 8/248 | chr2 | TogoVar | ||
SULT1A2_chr16_28586943_28602050 | 28593494 | G | GT | frameshift_variant others(1): Show |
HIGH | HG02258.hp1 HG02622.hp2 HG02922.hp2 others(2): Show |
a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0018 | 5 | 418 | 0.0120 | 1 | c.446 others(4): Show |
p.Tyr others(5): Show |
SULT1A2 | ENSG00000197165.11 | transcript | ENST00000335715.9 | protein_coding | 5/8 | 504/1031 | 446/888 | 149/295 | chr16 | TogoVar | ||
SULT1C2_chr2_108283895_108314915 | 108308425 | GA | G | frameshift_variant | HIGH | HG02109.hp1 HG02257.hp2 HG02451.hp1 others(4): Show |
a0003a0010 | a0003c0003a0010c0011 | a0003c0003t0001a0010c0011t0001 | a0003c0003t0001g0011a0003c0003t0001g0165a0010c0011t0001g0076 | 7 | 342 | 0.0205 | -1 | c.853 others(4): Show |
p.Met others(5): Show |
SULT1C2 | ENSG00000198203.10 | transcript | ENST00000251481.11 | protein_coding | 8/8 | 1050/2539 | 853/891 | 285/296 | chr2 | TogoVar | ||
TAC3_chr12_57005000_57021529 | 57015797 | T | C | start_lost | HIGH | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0036 | 1 | 348 | 0.0029 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TAC3 | ENSG00000166863.13 | transcript | ENST00000458521.7 | protein_coding | 2/7 | 149/804 | 1/366 | 1/121 | chr12 | TogoVar | ||
TAMALIN_chr12_52001946_52020889 | 52014908 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(32): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0013 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(15): Show | 35 | 380 | 0.0921 | 1 | c.902 others(4): Show |
p.Pro others(5): Show |
TAMALIN | ENSG00000161835.11 | transcript | ENST00000293662.9 | protein_coding | 8/8 | 977/1952 | 903/1188 | 301/395 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | ||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(270): Show | 274 | 310 | 0.8839 | 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 | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0174others(110): Show | 115 | 380 | 0.3026 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TIGD6_chr5_149988118_150005654 | 149996157 | TC | T | frameshift_variant | HIGH | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0004a0006 | a0004c0004a0004c0006a0004c0007others(2): Show | a0004c0004t0006a0004c0004t0011a0004c0004t0020others(5): Show | a0004c0004t0006g0008a0004c0004t0006g0017a0004c0004t0006g0058others(8): Show | 36 | 436 | 0.0826 | -1 | c.191 others(4): Show |
p.Gly others(4): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 453/3493 | 191/1566 | 64/521 | chr5 | TogoVar | ||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGGTG others(8): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp2 HG02109.hp1 HG02572.hp1 others(9): Show |
a0001a0005a0014 | a0001c0007a0001c0017a0001c0020others(3): Show | a0001c0007t0001a0001c0017t0001a0001c0020t0001others(3): Show | a0001c0007t0001g0022a0001c0007t0001g0064a0001c0007t0001g0070others(8): Show | 12 | 348 | 0.0345 | 15 | c.184 others(29): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
TPGS1_chr19_502497_524654 | 519258 | G | GC | frameshift_variant | HIGH | HG00735.hp2 HG01978.hp1 HG02074.hp1 others(12): Show |
a0000 | a0000c0003a0000c0006a0000c0016 | a0000c0003t0001a0000c0003t0002a0000c0003t0004others(3): Show | a0000c0003t0001g0001a0000c0003t0001g0004a0000c0003t0001g0019others(12): Show | 15 | 344 | 0.0436 | 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 | |
TPSG1_chr16_1216651_1230268 | 1223515 | C | T | stop_gained | HIGH | HG03139.hp2 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0069 | 1 | 390 | 0.0026 | 0 | c.153 others(3): Show |
p.Trp others(3): Show |
TPSG1 | ENSG00000116176.8 | transcript | ENST00000234798.5 | protein_coding | 3/6 | 169/1119 | 153/966 | 51/321 | chr16 | 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 | ||||||
TSPYL6_chr2_54248178_54261229 | 54256151 | T | C | start_lost | HIGH | HG02145.hp2 HG03139.hp2 NA20129.hp2 |
a0008 | a0008c0008 | a0008c0008t0002a0008c0008t0027 | a0008c0008t0002g0000a0008c0008t0027g0000 | 3 | 436 | 0.0069 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TSPYL6 | ENSG00000178021.11 | transcript | ENST00000317802.9 | protein_coding | 1/1 | 79/3052 | 1/1233 | 1/410 | chr2 | TogoVar | ||
TSR3_chr16_1344240_1356878 | 1349468 | C | CAAACCTC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG03139.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0026 | 1 | 364 | 0.0028 | 40 | c.868 others(47): Show |
p.Trp others(5): Show |
TSR3 | ENSG00000007520.4 | transcript | ENST00000007390.3 | protein_coding | 6/6 | 981/1210 | 907/939 | 303/312 | chr16 | 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 | ||||||
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 | ||||||
UGT2B10_chr4_68810994_68837023 | 68827423 | GT | G | frameshift_variant | HIGH | HG02572.hp1 HG03139.hp2 HG03209.hp2 others(3): Show |
a0005 | a0005c0007 | a0005c0007t0007 | a0005c0007t0007g0052a0005c0007t0007g0053a0005c0007t0007g0054 | 6 | 461 | 0.0130 | -1 | c.118 others(5): Show |
p.Phe others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 5/6 | 1214/2757 | 1188/1587 | 396/528 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
USP17L15_chr4_9229385_9241046 | 9234821 | C | A | stop_gained | HIGH | HG02809.hp1 HG03139.hp1 HG03139.hp2 others(1): Show |
a0014a0017 | a0014c0011a0017c0010 | a0014c0011t0000a0017c0010t0000 | a0014c0011t0000g0000a0017c0010t0000g0000 | 4 | 110 | 0.0364 | 0 | c.437 others(3): Show |
p.Ser others(4): Show |
USP17L15 | ENSG00000223569.8 | transcript | ENST00000456464.2 | protein_coding | 1/1 | 437/1662 | 437/1662 | 146/553 | 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 | ||
USP17L17_chr4_9238879_9250471 | 9245286 | A | T | stop_gained | HIGH | HG01109.hp1 HG02809.hp1 HG03139.hp1 |
a0015 | a0015c0013 | a0015c0013t0000 | a0015c0013t0000g0000 | 3 | 199 | 0.0151 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L17 | ENSG00000249104.3 | transcript | ENST00000511568.1 | protein_coding | 1/1 | 1408/1593 | 1408/1593 | 470/530 | chr4 | TogoVar | ||
USP17L18_chr4_9243630_9255222 | 9250037 | A | T | stop_gained | HIGH | HG02293.hp2 HG03139.hp2 |
a0051a0058 | a0051c0075a0058c0074 | a0051c0075t0000a0058c0074t0000 | a0051c0075t0000g0000a0058c0074t0000g0000 | 2 | 210 | 0.0095 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L18 | ENSG00000250844.3 | transcript | ENST00000504209.1 | protein_coding | 1/1 | 1408/1593 | 1408/1593 | 470/530 | chr4 | TogoVar | ||
USP17L2_chr8_12131435_12143849 | 12135283 | ATAGCATA others(4731): Show |
A | transcript_ablation | HIGH | HG02109.hp1 HG02145.hp2 HG02717.hp2 others(13): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 16 | 195 | 0.0821 | -4738 | c.-12 others(11): Show |
p.0? | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | chr8 | 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 | ||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0000a0001a0003others(40): Show | a0000c0083a0001c0001a0001c0088others(48): Show | a0000c0083t0031a0001c0001t0001a0001c0001t0008others(61): Show | a0000c0083t0031g0037a0001c0001t0001g0001a0001c0001t0001g0014others(72): Show | 137 | 271 | 0.5055 | 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 |
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 | ||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTTTTT others(15): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG03139.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0061 | 1 | 134 | 0.0075 | 22 | c.933 others(36): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | 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 | 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 | ||
WWTR1_chr3_149512235_149663025 | 149520808 | C | CTTAA | frameshift_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp1 HG01167.hp2 others(40): Show |
a0001a0002a0007 | a0001c0002a0002c0004a0007c0007 | a0001c0002t0003a0001c0002t0015a0001c0002t0017others(6): Show | a0001c0002t0003g0035a0001c0002t0003g0038a0001c0002t0003g0044others(40): Show | 43 | 334 | 0.1287 | 4 | c.119 others(13): Show |
p.Ter others(5): Show |
WWTR1 | ENSG00000018408.15 | transcript | ENST00000360632.8 | protein_coding | 7/7 | 1463/5037 | 1199/1203 | 400/400 | chr3 | TogoVar | ||
XNDC1N_chr11_71875704_71933594 | 71884595 | G | GA | frameshift_variant | HIGH | HG01074.hp1 HG02109.hp1 HG02258.hp2 others(15): Show |
a0002a0003a0004 | a0002c0003a0003c0004a0004c0008others(1): Show | a0002c0003t0005a0002c0003t0021a0003c0004t0008others(3): Show | a0002c0003t0005g0019a0002c0003t0005g0279a0002c0003t0005g0280others(14): Show | 18 | 338 | 0.0533 | 1 | c.548 others(4): Show |
p.Ser others(5): Show |
XNDC1N | ENSG00000254469.11 | transcript | ENST00000679412.2 | protein_coding | 6/6 | 900/4792 | 548/705 | 183/234 | chr11 | 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 | ||
ZFPM1_chr16_88448280_88542031 | 88534223 | G | GC | frameshift_variant | HIGH | HG00438.hp2 HG00558.hp1 HG00639.hp2 others(17): Show |
a0000a0011a0019others(1): Show | a0000c0015a0000c0021a0000c0031others(10): Show | a0000c0015t0004a0000c0015t0005a0000c0015t0019others(17): Show | a0000c0015t0004g0159a0000c0015t0005g0099a0000c0015t0019g0041others(17): Show | 20 | 318 | 0.0629 | 1 | c.227 others(5): Show |
p.Pro others(5): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 10/10 | 2633/5432 | 2274/3021 | 758/1006 | INFO_REALIGN_3_PRIME | chr16 | 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 | ||
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 | ||
ZNF225_chr19_44108399_44139822 | 44131295 | TGGAGAGA others(46): Show |
T | frameshift_variant | HIGH | HG03139.hp2 | a0016 | a0016c0020 | a0016c0020t0005 | a0016c0020t0005g0032 | 1 | 404 | 0.0025 | -53 | c.682 others(60): Show |
p.Gly others(5): Show |
ZNF225 | ENSG00000256294.8 | transcript | ENST00000262894.11 | protein_coding | 5/5 | 921/4447 | 682/2121 | 228/706 | 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 | ||
ZNF277_chr7_112201695_112348934 | 112318254 | G | T | stop_gained | HIGH | HG01243.hp2 HG03139.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0243a0003c0004t0001g0246 | 2 | 280 | 0.0071 | 0 | c.538 others(3): Show |
p.Glu others(4): Show |
ZNF277 | ENSG00000198839.10 | transcript | ENST00000361822.8 | protein_coding | 5/12 | 560/2580 | 538/1353 | 180/450 | chr7 | 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 | ||||||
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 | ||
ZNF443_chr19_12424706_12446021 | 12431549 | C | CA | frameshift_variant | HIGH | HG02027.hp2 HG02559.hp1 HG03139.hp2 others(5): Show |
a0004a0006a0010 | a0004c0009a0004c0024a0006c0010others(1): Show | a0004c0009t0001a0004c0024t0001a0006c0010t0002others(1): Show | a0004c0009t0001g0110a0004c0009t0001g0112a0004c0009t0001g0115others(4): Show | 8 | 410 | 0.0195 | 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 |
a0003a0004a0007others(2): Show | a0003c0003a0003c0014a0004c0004others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(11): Show | a0003c0003t0001g0002a0003c0003t0001g0003a0003c0003t0001g0007others(76): Show | 85 | 386 | 0.2202 | -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 | |
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 |