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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUMO4_chr6_149395262_149406278 | 149400392 | A | G | start_lost | HIGH | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0000 | 7 | 418 | 0.0168 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SUMO4 | ENSG00000177688.7 | transcript | ENST00000326669.6 | protein_coding | 1/1 | 131/1017 | 1/288 | 1/95 | chr6 | TogoVar | ||
TAC4_chr17_49833300_49853069 | 49844056 | TCACTCAC others(4): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00639.hp1 HG00738.hp2 HG01106.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0071a0002c0002t0001g0072 | 13 | 406 | 0.0320 | -11 | c.196 others(20): Show |
p.Gly others(4): Show |
TAC4 | ENSG00000176358.16 | transcript | ENST00000436235.6 | protein_coding | 2/5 | 196/324 | 66/107 | chr17 | 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 | ||
TAF4_chr20_61969798_62070881 | 62064985 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00741.hp1 HG01192.hp1 others(8): Show |
a0003a0016a0017 | a0003c0007a0003c0020a0003c0036others(2): Show | a0003c0007t0001a0003c0020t0001a0003c0036t0001others(2): Show | a0003c0007t0001g0011a0003c0007t0001g0012a0003c0007t0001g0014others(8): Show | 11 | 314 | 0.0350 | 1 | c.825 others(4): Show |
p.Ala others(5): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/15 | 896/4699 | 825/3258 | 275/1085 | chr20 | 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 | ||
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 | |
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(88): Show | 102 | 414 | 0.2464 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | TogoVar | ||||||
TFE3_chrX_49023726_49048357 | 49030440 | T | TC | frameshift_variant | HIGH | HG01192.hp1 HG03831.hp2 |
a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0024a0000c0004t0001g0052 | 2 | 260 | 0.0077 | 1 | c.144 others(5): Show |
p.Pro others(5): Show |
TFE3 | ENSG00000068323.17 | transcript | ENST00000315869.8 | protein_coding | 10/10 | 1576/3291 | 1445/1728 | 482/575 | chrX | TogoVar | ||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(31): Show | 193 | 436 | 0.4427 | -1 | c.103 others(5): Show |
p.Glu others(5): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 1294/3493 | 1032/1566 | 344/521 | chr5 | 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 | ||
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 | 5388813 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00544.hp2 HG01109.hp1 others(19): Show |
a0003a0034a0036others(1): Show | a0003c0017a0003c0041a0003c0044others(18): Show | a0003c0017t0002a0003c0017t0007a0003c0041t0007others(19): Show | a0003c0017t0002g0020a0003c0017t0007g0129a0003c0041t0007g0164others(19): Show | 22 | 306 | 0.0719 | 1 | c.101 others(5): Show |
p.Pro others(5): Show |
TNRC18 | ENSG00000182095.15 | transcript | ENST00000430969.6 | protein_coding | 5/30 | 1647/10839 | 1010/8907 | 337/2968 | chr7 | TogoVar | ||
TPST2_chr22_26516996_26595132 | 26541248 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(23): Show |
a0002 | a0002c0002a0002c0011a0002c0012others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(12): Show | a0002c0002t0001g0012a0002c0002t0001g0026a0002c0002t0001g0092others(23): Show | 26 | 400 | 0.0650 | 1 | c.382 others(4): Show |
p.Val others(5): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 3/7 | 622/5653 | 382/1134 | 128/377 | chr22 | 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 | ||||||
TRIM61_chr4_164963281_164982657 | 164977530 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp1 HG00738.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 6 | 408 | 0.0147 | 0 | c.-47 others(6): Show |
TRIM61 | ENSG00000183439.10 | transcript | ENST00000710271.1 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
TSPAN10_chr17_81632196_81653749 | 81647906 | T | TTAAC | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(30): Show |
a0004a0007 | a0004c0005a0004c0011a0004c0012others(1): Show | a0004c0005t0003a0004c0011t0003a0004c0012t0003others(1): Show | a0004c0005t0003g0002a0004c0005t0003g0140a0004c0005t0003g0141others(6): Show | 33 | 410 | 0.0805 | 4 | c.682 others(11): Show |
p.Cys others(5): Show |
TSPAN10 | ENSG00000182612.11 | transcript | ENST00000611590.2 | protein_coding | 4/4 | 1003/1840 | 686/1068 | 229/355 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
TSPYL2_chrX_53077367_53093540 | 53082573 | G | GC | frameshift_variant | HIGH | HG01192.hp1 HG03927.hp1 HG03927.hp2 others(2): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0001a0002c0002t0001g0003a0008c0008t0001g0001 | 5 | 258 | 0.0194 | 1 | c.80d others(3): Show |
p.Pro others(4): Show |
TSPYL2 | ENSG00000184205.14 | transcript | ENST00000375442.8 | protein_coding | 1/7 | 213/2815 | 81/2082 | 27/693 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0006others(31): Show | 177 | 428 | 0.4136 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(118): Show | 121 | 286 | 0.4231 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | TogoVar | ||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(209): Show | 212 | 286 | 0.7413 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | ||
UBAP1L_chr15_65087760_65120200 | 65102174 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG01106.hp1 HG01106.hp2 others(6): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0002c0002t0001g0064a0002c0002t0001g0070a0002c0002t0001g0089others(6): Show | 9 | 232 | 0.0388 | 1 | c.630 others(4): Show |
p.Ala others(5): Show |
UBAP1L | ENSG00000246922.10 | transcript | ENST00000559089.6 | protein_coding | 3/6 | 854/1707 | 630/1146 | 210/381 | chr15 | TogoVar | ||
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0005others(1): Show | a0002c0002t0000a0003c0003t0000a0005c0005t0000others(1): Show | a0002c0002t0000g0000a0003c0003t0000g0000a0005c0005t0000g0000others(1): Show | 65 | 276 | 0.2355 | 1 | c.772 others(4): Show |
p.Trp others(5): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 1/1 | 773/1182 | 773/1182 | 258/393 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
UGT2A1_chr4_69583417_69658247 | 69653186 | A | C | splice_donor_variant others(1): Show |
HIGH | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0016 | 1 | 376 | 0.0027 | 0 | c.-55 others(5): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
UGT2A1_chr4_69583417_69658247 | 69653187 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0016 | 1 | 376 | 0.0027 | 0 | c.-55 others(5): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGCA others(5): Show |
start_lost others(1): Show |
HIGH | HG01192.hp2 HG01243.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0045a0001c0001t0046 | a0001c0001t0022g0121a0001c0001t0022g0239a0001c0001t0022g0244others(2): Show | 5 | 250 | 0.0200 | 12 | c.-12 others(18): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
UNC13C_chr15_53973441_54633605 | 54338354 | T | TTGTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0044a0001c0001t0002g0102a0001c0001t0007g0016others(42): Show | 45 | 158 | 0.2848 | 4 | c.458 others(17): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 16/32 | INFO_REALIGN_3_PRIME | chr15 | 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 | ||
UTF1_chr10_133225217_133236558 | 133230972 | A | AC | frameshift_variant | HIGH | HG01192.hp1 HG02056.hp1 HG02056.hp2 others(8): Show |
a0000 | a0000c0005a0000c0006a0000c0009others(1): Show | a0000c0005t0002a0000c0005t0003a0000c0006t0001others(2): Show | a0000c0005t0002g0001a0000c0005t0003g0001a0000c0006t0001g0001others(2): Show | 11 | 404 | 0.0272 | 1 | c.560 others(4): Show |
p.Leu others(5): Show |
UTF1 | ENSG00000171794.4 | transcript | ENST00000304477.3 | protein_coding | 2/2 | 633/1214 | 561/1026 | 187/341 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||
VPS26C_chr21_37218422_37272334 | 37233366 | G | GA | frameshift_variant | HIGH | HG00408.hp2 HG01192.hp1 NA19075.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0005 | a0002c0002t0001g0137a0002c0002t0001g0146a0002c0002t0001g0158others(2): Show | 5 | 396 | 0.0126 | 1 | c.427 others(4): Show |
p.Ser others(5): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 4/8 | 467/3056 | 427/894 | 143/297 | chr21 | 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 | ||
YEATS2_chr3_183692797_183817624 | 183772310 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG01109.hp1 HG01175.hp1 others(7): Show |
a0004a0009a0021 | a0004c0012a0004c0014a0004c0023others(2): Show | a0004c0012t0001a0004c0014t0001a0004c0023t0001others(2): Show | a0004c0012t0001g0034a0004c0012t0001g0085a0004c0012t0001g0105others(7): Show | 10 | 310 | 0.0323 | 1 | c.195 others(5): Show |
p.Val others(5): Show |
YEATS2 | ENSG00000163872.16 | transcript | ENST00000305135.10 | protein_coding | 16/31 | 2174/6526 | 1958/4269 | 653/1422 | INFO_REALIGN_3_PRIME | chr3 | 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 | 88533830 | G | GC | frameshift_variant | HIGH | HG01192.hp2 HG02027.hp1 HG02071.hp1 others(8): Show |
a0010a0011a0014others(3): Show | a0010c0020a0011c0024a0011c0041others(4): Show | a0010c0020t0002a0010c0020t0015a0010c0020t0016others(7): Show | a0010c0020t0002g0003a0010c0020t0015g0252a0010c0020t0016g0195others(8): Show | 11 | 318 | 0.0346 | 1 | c.187 others(5): Show |
p.Gly others(5): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 10/10 | 2238/5432 | 1879/3021 | 627/1006 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0016a0002c0017others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(8): Show | a0002c0002t0003g0002a0002c0002t0003g0007a0002c0002t0003g0011others(23): Show | 118 | 382 | 0.3089 | 5 | c.118 others(12): Show |
p.Arg others(4): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/11 | 624/2775 | 123/1416 | 41/471 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
ZIC5_chr13_99957964_99976767 | 99971172 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show |
a0003a0010a0016 | a0003c0003a0003c0004a0003c0021others(9): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(29): Show | a0003c0003t0001g0003a0003c0003t0001g0080a0003c0003t0003g0035others(34): Show | 64 | 410 | 0.1561 | 1 | c.431 others(4): Show |
p.Pro others(5): Show |
ZIC5 | ENSG00000139800.9 | transcript | ENST00000267294.5 | protein_coding | 1/2 | 595/4497 | 431/1920 | 144/639 | chr13 | TogoVar | ||
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 | ||
ZNF316_chr7_6632318_6663279 | 6653564 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG01192.hp1 HG01934.hp2 others(5): Show |
a0009a0013a0017others(1): Show | a0009c0014a0009c0019a0013c0018others(2): Show | a0009c0014t0002a0009c0014t0074a0009c0019t0002others(4): Show | a0009c0014t0002g0016a0009c0014t0074g0172a0009c0019t0002g0030others(5): Show | 8 | 422 | 0.0190 | 1 | c.197 others(5): Show |
p.Ala others(5): Show |
ZNF316 | ENSG00000205903.7 | transcript | ENST00000382252.6 | protein_coding | 9/9 | 2533/7243 | 1973/3015 | 658/1004 | INFO_REALIGN_3_PRIME | chr7 | 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 | ||
ZNF579_chr19_55571774_55585848 | 55578176 | C | CG | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(114): Show |
a0004a0005a0006others(8): Show | a0004c0004a0005c0008a0005c0010others(14): Show | a0004c0004t0001a0005c0008t0001a0005c0008t0006others(18): Show | a0004c0004t0001g0002a0004c0004t0001g0037a0005c0008t0001g0007others(24): Show | 117 | 416 | 0.2813 | 1 | c.146 others(5): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1519/2922 | 1463/1689 | 488/562 | chr19 | TogoVar | ||
ZNF579_chr19_55571774_55585848 | 55578182 | C | CG | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp2 HG01192.hp1 others(11): Show |
a0010a0011a0014others(2): Show | a0010c0015a0011c0019a0011c0033others(3): Show | a0010c0015t0002a0011c0019t0002a0011c0033t0001others(3): Show | a0010c0015t0002g0026a0010c0015t0002g0032a0010c0015t0002g0064others(5): Show | 14 | 416 | 0.0337 | 1 | c.145 others(5): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1513/2922 | 1457/1689 | 486/562 | chr19 | TogoVar | ||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0000a0004 | a0000c0001a0000c0004a0000c0005others(9): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0003others(50): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0014others(254): Show | 294 | 378 | 0.7778 | -167 | c.138 others(9): Show |
p.Cys others(5): Show |
ZNF626 | ENSG00000188171.17 | transcript | ENST00000601440.6 | protein_coding | 4/4 | 1674/6063 | 1383/1587 | 461/528 | chr19 | TogoVar | ||
ZNF628_chr19_55471617_55489487 | 55482009 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00642.hp1 others(29): Show |
a0004a0008a0033others(3): Show | a0004c0015a0004c0017a0004c0024others(20): Show | a0004c0015t0001a0004c0017t0001a0004c0024t0001others(20): Show | a0004c0015t0001g0001a0004c0015t0001g0007a0004c0015t0001g0017others(28): Show | 32 | 422 | 0.0758 | 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 |