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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC22A24_chr11_63074940_63149221 | 63143377 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00642.hp1 others(83): Show |
a0003a0007a0013others(2): Show | a0003c0003a0003c0009a0007c0007others(4): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0002a0003c0003t0002g0022others(80): Show | 86 | 366 | 0.2350 | 0 | c.402 others(5): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SLC22A25_chr11_63153437_63248599 | 63228566 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp1 HG02055.hp1 HG02109.hp2 others(27): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0005others(4): Show | a0002c0002t0004a0002c0002t0007a0002c0002t0022others(16): Show | a0002c0002t0004g0156a0002c0002t0007g0157a0002c0002t0022g0303others(25): Show | 30 | 344 | 0.0872 | 0 | c.403 others(5): Show |
SLC22A25 | ENSG00000196600.13 | transcript | ENST00000306494.11 | protein_coding | 4/11 | chr11 | TogoVar | ||||||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0014others(30): Show | 173 | 428 | 0.4042 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | TogoVar | ||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | ||
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(157): Show | 181 | 456 | 0.3969 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | TogoVar | ||
SLFN13_chr17_35430096_35453766 | 35445694 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG02109.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0083 | 1 | 456 | 0.0022 | 0 | c.-13 others(5): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2086946 | A | AC | frameshift_variant | HIGH | HG00642.hp1 HG00741.hp2 HG01928.hp2 others(6): Show |
a0005a0021 | a0005c0018a0005c0019a0005c0028others(2): Show | a0005c0018t0001a0005c0018t0002a0005c0019t0001others(4): Show | a0005c0018t0001g0179a0005c0018t0001g0231a0005c0018t0002g0246others(6): Show | 9 | 316 | 0.0285 | 1 | c.264 others(5): Show |
p.Leu others(5): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 18/34 | 2743/5748 | 2649/4773 | 883/1590 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
SNX27_chr1_151607050_151704080 | 151692406 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0113a0001c0001t0001g0117a0001c0001t0001g0118others(82): Show | 85 | 366 | 0.2322 | 1 | c.124 others(7): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX31_chr8_100567889_100654665 | 100596815 | GC | G | frameshift_variant | HIGH | HG01243.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0009a0010a0012 | a0009c0009a0009c0023a0010c0012others(1): Show | a0009c0009t0002a0009c0023t0002a0010c0012t0001others(3): Show | a0009c0009t0002g0022a0009c0009t0002g0032a0009c0009t0002g0033others(8): Show | 11 | 304 | 0.0362 | -1 | c.801 others(4): Show |
p.His others(5): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 10/14 | 952/2450 | 801/1323 | 267/440 | chr8 | TogoVar | ||
SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
SPATA2L_chr16_89691357_89706705 | 89697587 | A | AC | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp2 HG01175.hp2 others(17): Show |
a0002 | a0002c0004a0002c0007a0002c0009others(1): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(5): Show | a0002c0004t0001g0019a0002c0004t0001g0060a0002c0004t0001g0072others(12): Show | 20 | 418 | 0.0479 | 1 | c.102 others(5): Show |
p.Val others(5): Show |
SPATA2L | ENSG00000158792.16 | transcript | ENST00000289805.10 | protein_coding | 3/3 | 1100/2331 | 1021/1275 | 341/424 | chr16 | TogoVar | ||
SPATC1L_chr21_46156160_46189459 | 46183550 | GCGGGGAG others(240): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG01074.hp2 HG01884.hp1 HG01884.hp2 others(21): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0003a0002c0002t0026a0002c0002t0027others(1): Show | a0002c0002t0003g0004a0002c0002t0003g0009a0002c0002t0003g0042others(17): Show | 24 | 251 | 0.0956 | -247 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 735 | chr21 | 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 | ||
SURF2_chr9_133351550_133366158 | 133357790 | C | CG | frameshift_variant | HIGH | HG00741.hp1 HG01106.hp2 HG01496.hp1 others(12): Show |
a0003a0007 | a0003c0003a0003c0008a0007c0014 | a0003c0003t0001a0003c0008t0001a0007c0014t0001 | a0003c0003t0001g0001a0003c0003t0001g0004a0003c0003t0001g0043others(2): Show | 15 | 448 | 0.0335 | 1 | c.315 others(4): Show |
p.Tyr others(5): Show |
SURF2 | ENSG00000148291.10 | transcript | ENST00000371964.5 | protein_coding | 3/6 | 359/833 | 316/771 | 106/256 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
SYNE2_chr14_63848004_64231433 | 63993818 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show |
a0001a0002a0003others(38): Show | a0001c0004a0001c0005a0001c0009others(51): Show | a0001c0004t0003a0001c0005t0001a0001c0005t0002others(59): Show | a0001c0004t0003g0071a0001c0005t0001g0030a0001c0005t0002g0044others(75): Show | 78 | 150 | 0.5200 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | 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 | |||||
THNSL1_chr10_25011612_25031664 | 25023170 | G | GA | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025a0001c0003t0003g0036a0001c0003t0003g0037others(2): Show | 9 | 412 | 0.0218 | 1 | c.-48 others(6): Show |
THNSL1 | ENSG00000185875.13 | transcript | ENST00000376356.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
THSD7B_chr2_136760545_137682718 | 137272664 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02109.hp2 HG03225.hp2 NA18993.hp2 others(1): Show |
a0001a0004a0022 | a0001c0021a0004c0008a0004c0055others(1): Show | a0001c0021t0004a0004c0008t0001a0004c0055t0003others(1): Show | a0001c0021t0004g0071a0004c0008t0001g0040a0004c0055t0003g0076others(1): Show | 4 | 98 | 0.0408 | 0 | c.239 others(6): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 11/27 | chr2 | 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 | ||
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 | ||||||
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 | ||
TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251a0002c0003t0001g0007a0002c0003t0001g0011others(80): Show | 102 | 472 | 0.2161 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | 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 | ||||||
TNK2_chr3_195858364_195913551 | 195867836 | C | CG | frameshift_variant | HIGH | HG00741.hp2 HG01175.hp2 HG01934.hp1 others(5): Show |
a0002a0006a0014others(2): Show | a0002c0067a0002c0072a0006c0025others(4): Show | a0002c0067t0001a0002c0072t0001a0006c0025t0001others(4): Show | a0002c0067t0001g0082a0002c0072t0001g0091a0006c0025t0001g0096others(5): Show | 8 | 372 | 0.0215 | 1 | c.246 others(5): Show |
p.Arg others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2546/4070 | 2461/3168 | 821/1055 | chr3 | TogoVar | ||
TPPP2_chr14_21025217_21037815 | 21032059 | C | G | stop_gained | HIGH | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0004a0003c0003t0007g0019 | 7 | 482 | 0.0145 | 0 | c.495 others(3): Show |
p.Tyr others(4): Show |
TPPP2 | ENSG00000179636.15 | transcript | ENST00000321760.11 | protein_coding | 4/4 | 652/1408 | 495/513 | 165/170 | chr14 | 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 | a0002c0002t0002g0002a0002c0002t0002g0012a0002c0002t0002g0015others(27): Show | 72 | 270 | 0.2667 | -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 | |
TRIM48_chr11_55257155_55276114 | 55269336 | T | C | stop_lost | HIGH | HG01346.hp2 HG01433.hp1 HG02109.hp1 others(8): Show |
a0000 | a0000c0005a0000c0006a0000c0009others(1): Show | a0000c0005t0004a0000c0006t0004a0000c0006t0010others(2): Show | a0000c0005t0004g0028a0000c0005t0004g0056a0000c0005t0004g0057others(7): Show | 11 | 272 | 0.0404 | 0 | c.673 others(3): Show |
p.Ter others(11): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 5/6 | 786/1467 | 673/675 | 225/224 | 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 | ||||||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0012a0013 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005a0002c0002t0002g0007a0002c0002t0002g0009others(58): Show | 139 | 424 | 0.3278 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | ||
TRIM7_chr5_181188924_181210196 | 181195167 | C | G | stop_lost | HIGH | HG02109.hp1 | a0000 | a0000c0033 | a0000c0033t0002 | a0000c0033t0002g0120 | 1 | 394 | 0.0025 | 0 | c.153 others(4): Show |
p.Ter others(11): Show |
TRIM7 | ENSG00000146054.18 | transcript | ENST00000274773.12 | protein_coding | 7/7 | 1621/2864 | 1535/1536 | 512/511 | chr5 | TogoVar | ||
TTC24_chr1_156574723_156592719 | 156583439 | GC | G | frameshift_variant | HIGH | HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show |
a0003a0009a0010 | a0003c0004a0009c0010a0010c0011 | a0003c0004t0001a0003c0004t0006a0003c0004t0012others(2): Show | a0003c0004t0001g0006a0003c0004t0001g0017a0003c0004t0001g0024others(9): Show | 26 | 442 | 0.0588 | -1 | c.114 others(5): Show |
p.Gln others(5): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 5/11 | 1184/2958 | 1144/1749 | 382/582 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
TTLL10_chr1_1168880_1202936 | 1184655 | GGCCTTCT others(101): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG00642.hp1 HG01433.hp2 HG01975.hp2 others(9): Show |
a0001a0005a0018others(1): Show | a0001c0002a0001c0016a0005c0012others(2): Show | a0001c0002t0001a0001c0016t0003a0005c0012t0003others(2): Show | a0001c0002t0001g0006a0001c0002t0001g0134a0001c0002t0001g0159others(6): Show | 12 | 382 | 0.0314 | -108 | c.126 others(12): Show |
p.Phe others(13): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 13/16 | 1261/2022 | 421/673 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||||||
TULP2_chr19_48875967_48903744 | 48883133 | GGCGTGAG others(3080): Show |
G | exon_loss_variant | HIGH | HG02109.hp2 | a0013 | a0013c0011 | a0013c0011t0002 | a0013c0011t0002g0242 | 1 | 364 | 0.0028 | -3087 | c.949 others(16): Show |
TULP2 | ENSG00000104804.9 | transcript | ENST00000221399.8 | protein_coding | 11/13 | chr19 | 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 | ||||||
ULBP3_chr6_150056053_150074121 | 150065923 | C | A | stop_gained | HIGH | HG01081.hp1 HG02109.hp1 HG02486.hp1 others(6): Show |
a0004 | a0004c0004 | a0004c0004t0011a0004c0004t0013 | a0004c0004t0011g0022a0004c0004t0011g0082a0004c0004t0013g0021others(1): Show | 9 | 458 | 0.0197 | 0 | c.328 others(3): Show |
p.Glu others(4): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 2/5 | 383/3111 | 328/735 | 110/244 | chr6 | TogoVar | ||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGC | start_lost others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0018others(7): Show | a0001c0001t0003g0107a0001c0001t0003g0128a0001c0001t0003g0172others(28): Show | 31 | 250 | 0.1240 | 3 | c.-3_ others(8): 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 | ||
UNKL_chr16_1358205_1419704 | 1397263 | TCCCCGTG others(341): Show |
T | frameshift_variant others(3): Show |
HIGH | HG02055.hp1 HG02056.hp2 HG02109.hp1 others(1): Show |
a0002 | a0002c0002a0002c0007a0002c0020 | a0002c0002t0023a0002c0007t0044a0002c0020t0001 | a0002c0002t0023g0271a0002c0002t0023g0291a0002c0007t0044g0109others(1): Show | 4 | 322 | 0.0124 | -348 | 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 | ||
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 | |||||
USP17L30_chr4_9358129_9369721 | 9364065 | G | T | stop_gained | HIGH | HG00673.hp1 HG01081.hp2 HG01243.hp1 others(27): Show |
a0004a0005a0010others(1): Show | a0004c0007a0004c0029a0004c0031others(6): Show | a0004c0007t0000a0004c0029t0000a0004c0031t0000others(6): Show | a0004c0007t0000g0000a0004c0029t0000g0000a0004c0031t0000g0000others(6): Show | 30 | 330 | 0.0909 | 0 | c.937 others(3): Show |
p.Gly others(4): Show |
USP17L30 | ENSG00000228856.3 | transcript | ENST00000504104.1 | protein_coding | 1/1 | 937/1593 | 937/1593 | 313/530 | 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 | ||
VCX3A_chrX_6528618_6540118 | 6534957 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01106.hp1 HG02109.hp1 HG02886.hp1 others(1): Show |
a0001a0004a0013 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0016a0004c0005t0002others(1): Show | a0001c0001t0001g0014a0001c0002t0016g0050a0004c0005t0002g0013others(1): Show | 4 | 74 | 0.0541 | 0 | c.-14 others(6): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | 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 | ||
VIPAS39_chr14_77421675_77462601 | 77451285 | T | TC | frameshift_variant | HIGH | HG00741.hp2 HG02109.hp2 HG02615.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0052a0002c0004t0001g0053a0002c0004t0001g0082others(1): Show | 4 | 244 | 0.0164 | 1 | c.244 others(8): Show |
p.His others(4): Show |
VIPAS39 | ENSG00000151445.16 | transcript | ENST00000557658.6 | protein_coding | 4/20 | 351/2530 | 244/1482 | 82/493 | chr14 | 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 |