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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
SLC7A13_chr8_86209063_86235381 | 86214405 | TCCGACAT others(1): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show |
a0000 | a0000c0002a0000c0015a0000c0024 | a0000c0002t0002a0000c0015t0002a0000c0024t0002 | a0000c0002t0002g0002a0000c0002t0002g0008a0000c0002t0002g0012others(18): Show | 95 | 428 | 0.2220 | -8 | c.141 others(15): Show |
p.Ter others(5): Show |
SLC7A13 | ENSG00000164893.9 | transcript | ENST00000297524.8 | protein_coding | 4/4 | 1524/1867 | 1413/1413 | 471/470 | chr8 | TogoVar | ||
SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 140 | 294 | 0.4762 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 240998897 | C | CG | frameshift_variant | HIGH | HG01934.hp1 HG01993.hp1 HG03654.hp2 others(5): Show |
a0007 | a0007c0027a0007c0038a0007c0039others(4): Show | a0007c0027t0001a0007c0027t0002a0007c0038t0018others(5): Show | a0007c0027t0001g0267a0007c0027t0002g0012a0007c0038t0018g0159others(5): Show | 8 | 344 | 0.0233 | 1 | c.64d others(3): Show |
p.Val others(4): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/32 | 285/8394 | 65/4242 | 22/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
SPATA31C2_chr9_88124305_88143475 | 88136010 | TGCAACCT others(3483): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG00423.hp2 HG01106.hp2 HG01928.hp1 others(12): Show |
a0007a0042 | a0007c0009a0007c0014a0042c0062 | a0007c0009t0003a0007c0009t0006a0007c0014t0003others(1): Show | a0007c0009t0003g0002a0007c0009t0003g0079a0007c0009t0003g0080others(5): Show | 15 | 446 | 0.0336 | -3490 | c.-10 others(14): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
SPSB2_chr12_6865935_6878303 | 6872998 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0016others(7): Show | 77 | 398 | 0.1935 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
ST6GAL2_chr2_106796600_106891167 | 106843196 | A | ACG | frameshift_variant | HIGH | HG01169.hp2 HG01934.hp1 HG01993.hp2 others(5): Show |
a0008a0010 | a0008c0014a0008c0015a0008c0028others(3): Show | a0008c0014t0008a0008c0014t0018a0008c0015t0088others(5): Show | a0008c0014t0008g0284a0008c0014t0018g0024a0008c0015t0088g0245others(5): Show | 8 | 372 | 0.0215 | 2 | c.780 others(9): Show |
p.Val others(5): Show |
ST6GAL2 | ENSG00000144057.16 | transcript | ENST00000409382.8 | protein_coding | 2/6 | 913/6800 | 781/1590 | 261/529 | chr2 | TogoVar | ||
STAG2_chrX_123956706_124107656 | 124061743 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00735.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(18): Show | 21 | 276 | 0.0761 | 2 | c.153 others(15): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SUSD3_chr9_93053701_93090133 | 93075973 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 340 | 0.0029 | 0 | c.277 others(5): Show |
SUSD3 | ENSG00000157303.11 | transcript | ENST00000375472.8 | protein_coding | 2/4 | 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 | |||||
SYT15_chr10_46574128_46597064 | 46583722 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0021a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0021g0058a0001c0002t0001g0034a0001c0002t0002g0006others(19): Show | 42 | 284 | 0.1479 | 1 | c.652 others(6): Show |
SYT15 | ENSG00000204176.14 | transcript | ENST00000374321.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002a0011 | a0002c0002a0002c0006a0011c0007 | a0002c0002t0000a0002c0006t0000a0011c0007t0000 | a0002c0002t0000g0000a0002c0006t0000g0000a0011c0007t0000g0000 | 150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | 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 | ||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(64): Show |
a0002a0007a0010 | a0002c0002a0007c0010a0010c0009 | a0002c0002t0000a0007c0010t0000a0010c0009t0000 | a0002c0002t0000g0000a0007c0010t0000g0000a0010c0009t0000g0000 | 67 | 295 | 0.2271 | 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 | ||
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 | |||||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0162others(85): Show | 89 | 322 | 0.2764 | 0 | c.283 others(6): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 19/21 | chr8 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223a0001c0001t0002g0271a0001c0001t0002g0301others(115): Show | 118 | 318 | 0.3711 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TBKBP1_chr17_47689161_47717052 | 47709026 | G | GC | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0002a0003a0007others(6): Show | a0002c0005a0002c0011a0002c0023others(10): Show | a0002c0005t0001a0002c0005t0005a0002c0011t0001others(12): Show | a0002c0005t0001g0003a0002c0005t0001g0007a0002c0005t0001g0022others(36): Show | 40 | 386 | 0.1036 | 1 | c.129 others(5): Show |
p.Pro others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1367/3342 | 1299/1848 | 433/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
TCHH_chr1_152101317_152120444 | 152112049 | TCAGCTGC others(6): Show |
T | frameshift_variant | HIGH | HG00099.hp2 HG01255.hp2 HG01358.hp2 others(8): Show |
a0014a0063a0080 | a0014c0014a0063c0080a0063c0081others(1): Show | a0014c0014t0001a0014c0014t0002a0063c0080t0004others(2): Show | a0014c0014t0001g0015a0014c0014t0002g0160a0063c0080t0004g0067others(2): Show | 11 | 402 | 0.0274 | -13 | c.115 others(22): Show |
p.Glu others(5): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1252/6985 | 1155/5832 | 385/1943 | chr1 | TogoVar | ||
TCHH_chr1_152101317_152120444 | 152112068 | CAG | C | frameshift_variant | HIGH | HG00099.hp2 HG00642.hp1 HG01069.hp1 others(11): Show |
a0014a0046a0063others(2): Show | a0014c0014a0046c0057a0063c0080others(3): Show | a0014c0014t0001a0014c0014t0002a0046c0057t0001others(4): Show | a0014c0014t0001g0015a0014c0014t0002g0160a0046c0057t0001g0059others(4): Show | 14 | 402 | 0.0348 | -2 | c.114 others(11): Show |
p.Leu others(5): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1233/6985 | 1147/5832 | 383/1943 | chr1 | TogoVar | ||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(44): Show | 165 | 303 | 0.5446 | 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(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 | ||
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 | ||||||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0013a0016others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0131a0002c0004t0001g0256a0002c0004t0001g0279others(50): Show | 53 | 372 | 0.1425 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar | ||
TNRC18_chr7_5301811_5428834 | 5361627 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG00673.hp2 HG01258.hp2 others(22): Show |
a0003a0005a0008others(5): Show | a0003c0044a0005c0018a0005c0024others(20): Show | a0003c0044t0008a0005c0018t0003a0005c0018t0040others(21): Show | a0003c0044t0008g0050a0005c0018t0003g0248a0005c0018t0040g0031others(22): Show | 25 | 306 | 0.0817 | 1 | c.462 others(5): Show |
p.Arg others(6): Show |
TNRC18 | ENSG00000182095.15 | transcript | ENST00000430969.6 | protein_coding | 14/30 | 5264/10839 | 4627/8907 | 1543/2968 | chr7 | TogoVar | ||
TNRC6C_chr17_77953703_78113822 | 78086948 | G | GC | frameshift_variant | HIGH | HG01993.hp1 HG02055.hp1 HG02080.hp1 others(6): Show |
a0003a0007a0013others(1): Show | a0003c0012a0003c0021a0003c0022others(4): Show | a0003c0012t0001a0003c0021t0002a0003c0022t0021others(5): Show | a0003c0012t0001g0022a0003c0012t0001g0220a0003c0021t0002g0113others(6): Show | 9 | 276 | 0.0326 | 1 | c.428 others(5): Show |
p.Pro others(6): Show |
TNRC6C | ENSG00000078687.18 | transcript | ENST00000696270.1 | protein_coding | 15/23 | 4887/10391 | 4284/5811 | 1428/1936 | INFO_REALIGN_3_PRIME | chr17 | 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 | |
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 | ||
TRIM73_chr7_75390629_75410605 | 75403732 | C | T | stop_gained | HIGH | HG00140.hp1 HG01123.hp1 HG01168.hp2 others(43): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0019others(14): Show | 46 | 322 | 0.1429 | 0 | c.487 others(3): Show |
p.Arg others(4): Show |
TRIM73 | ENSG00000178809.12 | transcript | ENST00000323819.8 | protein_coding | 3/5 | 687/1350 | 487/753 | 163/250 | chr7 | 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 | ||
UNC93A_chr6_167286315_167321014 | 167298071 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(4): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0101others(21): Show | 29 | 448 | 0.0647 | 0 | c.625 others(5): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
UNKL_chr16_1358205_1419704 | 1397263 | TCCCCGTG others(80): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00438.hp2 HG00733.hp1 HG01934.hp1 others(9): Show |
a0002 | a0002c0002a0002c0030 | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(3): Show | a0002c0002t0001g0189a0002c0002t0001g0191a0002c0002t0001g0239others(9): Show | 12 | 322 | 0.0373 | -87 | c.735 others(97): Show |
p.Ser others(5): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 6/15 | 779/5250 | 735/2202 | 245/733 | chr16 | TogoVar | ||
USP17L13_chr4_9219896_9231488 | 9225051 | T | A | stop_gained | HIGH | HG01928.hp2 HG01993.hp1 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 4 | 9 | 0.4444 | 0 | c.156 others(3): Show |
p.Cys others(3): Show |
USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 156/1593 | 156/1593 | 52/530 | chr4 | 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 | ||
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 | ||
VSIG10L2_chr11_125941044_125961319 | 125948513 | G | A | stop_gained | HIGH | HG00544.hp2 HG00597.hp1 HG00639.hp2 others(53): Show |
a0004a0012 | a0004c0004a0004c0008a0004c0023others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0023t0001others(2): Show | a0004c0004t0001g0004a0004c0004t0001g0009a0004c0004t0001g0048others(10): Show | 56 | 446 | 0.1256 | 0 | c.642 others(3): Show |
p.Trp others(4): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 3/12 | 654/2799 | 642/2382 | 214/793 | chr11 | 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 | ||
ZACN_chr17_76074182_76087806 | 76081716 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(86): Show |
a0003a0008a0009 | a0003c0003a0003c0012a0008c0013others(1): Show | a0003c0003t0001a0003c0012t0001a0008c0013t0001others(1): Show | a0003c0003t0001g0001a0003c0003t0001g0008a0003c0003t0001g0022others(5): Show | 89 | 392 | 0.2270 | 0 | c.841 others(3): Show |
p.Gln others(4): Show |
ZACN | ENSG00000186919.13 | transcript | ENST00000334586.10 | protein_coding | 7/9 | 924/1475 | 841/1239 | 281/412 | chr17 | TogoVar | ||
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 | |
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(233): Show | 379 | 444 | 0.8536 | 0 | c.128 others(4): Show |
p.Arg others(4): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 4/4 | 2567/9084 | 1282/1452 | 428/483 | chr7 | TogoVar | ||
ZNF211_chr19_57628168_57649041 | 57633347 | A | G | start_lost | HIGH | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0013a0004c0007others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0002g0002a0002c0002t0002g0016a0002c0002t0002g0021others(29): Show | 112 | 372 | 0.3011 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
ZNF211 | ENSG00000121417.14 | transcript | ENST00000240731.5 | protein_coding | 1/4 | 180/3773 | 1/1734 | 1/577 | chr19 | TogoVar | ||
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(137): Show |
a0000 | a0000c0003a0000c0004a0000c0005others(2): Show | a0000c0003t0001a0000c0004t0001a0000c0005t0001others(2): Show | a0000c0003t0001g0002a0000c0003t0001g0005a0000c0003t0001g0008others(90): Show | 140 | 408 | 0.3431 | -1 | c.198 others(5): Show |
p.Leu others(5): Show |
ZNF233 | ENSG00000159915.13 | transcript | ENST00000683810.1 | protein_coding | 5/5 | 2083/2757 | 1983/2013 | 661/670 | chr19 | TogoVar |