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 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | ||
SLFN12L_chr17_35459254_35542678 | 35479822 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show |
a0005 | a0005c0006a0005c0019 | a0005c0006t0005a0005c0006t0021a0005c0006t0036others(9): Show | a0005c0006t0005g0060a0005c0006t0005g0130a0005c0006t0005g0131others(31): Show | 34 | 360 | 0.0944 | -1 | c.459 others(4): Show |
p.Leu others(5): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 3/5 | 1170/13219 | 459/1839 | 153/612 | chr17 | 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 | |
SNX27_chr1_151607050_151704080 | 151692406 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0136a0001c0001t0003g0099a0001c0001t0003g0141others(65): Show | 70 | 366 | 0.1913 | 2 | c.124 others(15): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPACA5_chrX_48001988_48014733 | 48008411 | A | AC | frameshift_variant | HIGH | HG00741.hp2 NA18955.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0013a0002c0002t0003g0002 | 2 | 292 | 0.0069 | 1 | c.183 others(4): Show |
p.Ala others(4): Show |
SPACA5 | ENSG00000171489.11 | transcript | ENST00000376940.4 | protein_coding | 2/4 | 999/1383 | 184/480 | 62/159 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SPANXA2_chrX_141584708_141595762 | 141589821 | C | CA | frameshift_variant | HIGH | NA18955.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0012 | 1 | 185 | 0.0054 | 1 | c.56d others(3): Show |
p.Asn others(4): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 117/408 | 57/294 | 19/97 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SPANXA2_chrX_141584708_141595762 | 141590679 | GA | G | frameshift_variant | HIGH | NA18955.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0012 | 1 | 185 | 0.0054 | -1 | c.268 others(4): Show |
p.Ile others(4): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 328/408 | 268/294 | 90/97 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SPANXN2_chrX_143706955_143725752 | 143712149 | TG | T | frameshift_variant | HIGH | NA18955.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0087 | 1 | 336 | 0.0030 | -1 | c.428 others(4): Show |
p.Ser others(5): Show |
SPANXN2 | ENSG00000268988.2 | transcript | ENST00000598475.2 | protein_coding | 2/2 | 512/707 | 428/543 | 143/180 | chrX | TogoVar | ||
SPANXN2_chrX_143706955_143725752 | 143712218 | TC | T | frameshift_variant | HIGH | NA18955.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0087 | 1 | 336 | 0.0030 | -1 | c.359 others(4): Show |
p.Gly others(5): Show |
SPANXN2 | ENSG00000268988.2 | transcript | ENST00000598475.2 | protein_coding | 2/2 | 443/707 | 359/543 | 120/180 | chrX | TogoVar | ||
SPANXN2_chrX_143706955_143725752 | 143712308 | G | GT | frameshift_variant | HIGH | NA18955.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0087 | 1 | 336 | 0.0030 | 1 | c.269 others(4): Show |
p.Asp others(4): Show |
SPANXN2 | ENSG00000268988.2 | transcript | ENST00000598475.2 | protein_coding | 2/2 | 353/707 | 269/543 | 90/180 | chrX | TogoVar | ||
SPATA31C2_chr9_88124305_88143475 | 88135166 | TTCCTTCG others(3483): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG02738.hp2 NA18955.hp1 |
a0005a0043 | a0005c0006a0043c0061 | a0005c0006t0003a0043c0061t0003 | a0005c0006t0003g0077a0043c0061t0003g0078 | 2 | 446 | 0.0045 | -3490 | c.-21 others(13): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
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 | |
SPESP1_chr15_68925525_68951811 | 68946585 | T | G | stop_lost | HIGH | NA18955.hp1 NA19063.hp1 |
a0000 | a0000c0006 | a0000c0006t0001 | a0000c0006t0001g0005 | 2 | 402 | 0.0050 | 0 | c.105 others(4): Show |
p.Ter others(11): Show |
SPESP1 | ENSG00000258484.4 | transcript | ENST00000310673.4 | protein_coding | 2/2 | 1180/1406 | 1051/1053 | 351/350 | chr15 | 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 | ||||||
SULT1C3_chr2_108234968_108265886 | 108259008 | AAAACTTG others(15): Show |
A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(53): Show |
a0003a0022a0024 | a0003c0002a0003c0031a0022c0022others(1): Show | a0003c0002t0001a0003c0002t0004a0003c0031t0004others(2): Show | a0003c0002t0001g0094a0003c0002t0001g0134a0003c0002t0004g0002others(19): Show | 56 | 376 | 0.1489 | -22 | c.669 others(29): Show |
p.Trp others(5): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 7/8 | 792/1244 | 669/915 | 223/304 | INFO_REALIGN_3_PRIME | chr2 | 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 | ||
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 | |||||
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 | ||||||
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 | 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 | ||
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 | ||||||
TRIM38_chr6_25957802_25996231 | 25969403 | C | T | stop_gained | HIGH | NA18940.hp2 NA18941.hp2 NA18948.hp1 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0016a0002c0003t0029a0002c0003t0041others(5): Show | a0002c0003t0016g0009a0002c0003t0016g0033a0002c0003t0016g0055others(9): Show | 14 | 366 | 0.0383 | 0 | c.490 others(3): Show |
p.Arg others(4): Show |
TRIM38 | ENSG00000112343.11 | transcript | ENST00000357085.5 | protein_coding | 4/8 | 966/9418 | 490/1398 | 164/465 | chr6 | 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 | ||
TRIM64B_chr11_89865438_89883487 | 89875640 | GC | G | frameshift_variant | HIGH | HG00140.hp2 HG00558.hp1 HG00621.hp1 others(32): Show |
a0004a0005a0009 | a0004c0004a0004c0007a0005c0005others(4): Show | a0004c0004t0001a0004c0004t0002a0004c0007t0001others(6): Show | a0004c0004t0001g0011a0004c0004t0001g0024a0004c0004t0001g0056others(19): Show | 35 | 209 | 0.1675 | -1 | c.377 others(4): Show |
p.Ser others(5): Show |
TRIM64B | ENSG00000189253.8 | transcript | ENST00000329862.7 | protein_coding | 2/7 | 497/1653 | 377/1350 | 126/449 | chr11 | TogoVar | ||
TRMT44_chr4_8435777_8481555 | 8468009 | C | A | stop_gained | HIGH | NA18955.hp1 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0109 | 1 | 410 | 0.0024 | 0 | c.159 others(4): Show |
p.Cys others(4): Show |
TRMT44 | ENSG00000155275.19 | transcript | ENST00000389737.5 | protein_coding | 9/11 | 1636/2874 | 1590/2274 | 530/757 | chr4 | 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 | ||
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 | ||||||
USP17L20_chr4_9253124_9264716 | 9258279 | T | A | stop_gained | HIGH | HG01261.hp2 HG01346.hp2 HG02132.hp2 others(7): Show |
a0006 | a0006c0012a0006c0020a0006c0051others(4): Show | a0006c0012t0000a0006c0020t0000a0006c0051t0000others(4): Show | a0006c0012t0000g0000a0006c0020t0000g0000a0006c0051t0000g0000others(4): Show | 10 | 234 | 0.0427 | 0 | c.156 others(3): Show |
p.Cys others(3): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 156/1593 | 156/1593 | 52/530 | chr4 | TogoVar | ||
USP17L25_chr4_9324911_9336503 | 9330185 | AC | A | frameshift_variant | HIGH | NA18955.hp1 NA18972.hp1 NA19062.hp1 |
a0003 | a0003c0003 | a0003c0003t0000 | a0003c0003t0000g0000 | 3 | 32 | 0.0938 | -1 | c.276 others(4): Show |
p.Asn others(4): Show |
USP17L25 | ENSG00000230430.5 | transcript | ENST00000509271.1 | protein_coding | 1/1 | 276/1593 | 276/1593 | 92/530 | chr4 | TogoVar | ||
USP17L25_chr4_9324911_9336503 | 9331318 | A | T | stop_gained | HIGH | HG03942.hp1 HG03942.hp2 HG04204.hp1 others(3): Show |
a0002a0013 | a0002c0002a0002c0017a0013c0018 | a0002c0002t0000a0002c0017t0000a0013c0018t0000 | a0002c0002t0000g0000a0002c0017t0000g0000a0013c0018t0000g0000 | 6 | 32 | 0.1875 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L25 | ENSG00000230430.5 | transcript | ENST00000509271.1 | protein_coding | 1/1 | 1408/1593 | 1408/1593 | 470/530 | chr4 | TogoVar | ||
USP17L28_chr4_9343893_9355485 | 9349829 | G | T | stop_gained | HIGH | HG01515.hp2 HG02071.hp2 NA18955.hp2 |
a0005 | a0005c0005 | a0005c0005t0000 | a0005c0005t0000g0000 | 3 | 88 | 0.0341 | 0 | c.937 others(3): Show |
p.Gly others(4): Show |
USP17L28 | ENSG00000231051.3 | transcript | ENST00000504543.1 | protein_coding | 1/1 | 937/1593 | 937/1593 | 313/530 | 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 | ||
USP36_chr17_78790652_78845814 | 78803550 | A | AGCTGTGC others(3): Show |
frameshift_variant | HIGH | NA18955.hp1 | a0026 | a0026c0041 | a0026c0041t0002 | a0026c0041t0002g0153 | 1 | 386 | 0.0026 | 10 | c.263 others(19): Show |
p.Leu others(5): Show |
USP36 | ENSG00000055483.20 | transcript | ENST00000449938.7 | protein_coding | 16/21 | 2896/5872 | 2644/3372 | 882/1123 | chr17 | TogoVar | ||
UXT_chrX_47646796_47664180 | 47652104 | CT | C | frameshift_variant | HIGH | NA18955.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0038 | 1 | 290 | 0.0035 | -1 | c.396 others(4): Show |
p.Ala others(5): Show |
UXT | ENSG00000126756.12 | transcript | ENST00000333119.8 | protein_coding | 6/7 | 471/595 | 396/474 | 132/157 | chrX | 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 | ||||||
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 | ||
WDR13_chrX_48592492_48613869 | 48598025 | C | CA | frameshift_variant | HIGH | NA18955.hp1 | a0003 | a0003c0003 | a0003c0003t0033 | a0003c0003t0033g0041 | 1 | 310 | 0.0032 | 1 | c.30d others(3): Show |
p.Val others(4): Show |
WDR13 | ENSG00000101940.18 | transcript | ENST00000376729.10 | protein_coding | 2/10 | 193/5457 | 31/1458 | 11/485 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
YIF1B_chr19_38298558_38320947 | 38305458 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG01099.hp1 HG03831.hp1 others(6): Show |
a0000 | a0000c0007a0000c0009a0000c0010 | a0000c0007t0003a0000c0007t0004a0000c0009t0001others(1): Show | a0000c0007t0003g0114a0000c0007t0003g0154a0000c0007t0003g0164others(5): Show | 9 | 402 | 0.0224 | 1 | c.838 others(4): Show |
p.Val others(5): Show |
YIF1B | ENSG00000167645.17 | transcript | ENST00000339413.11 | protein_coding | 8/8 | 868/2769 | 838/945 | 280/314 | chr19 | 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 | ||
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 | ||
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 | ||
ZNF28_chr19_52792408_52826633 | 52801215 | CAT | C | frameshift_variant | HIGH | HG02129.hp1 HG03669.hp1 NA18950.hp2 others(9): Show |
a0006a0019 | a0006c0006a0019c0022 | a0006c0006t0001a0006c0006t0018a0019c0022t0001 | a0006c0006t0001g0169a0006c0006t0001g0171a0006c0006t0001g0183others(9): Show | 12 | 422 | 0.0284 | -2 | c.628 others(9): Show |
p.Met others(5): Show |
ZNF28 | ENSG00000198538.11 | transcript | ENST00000457749.7 | protein_coding | 4/4 | 750/4558 | 628/2157 | 210/718 | chr19 | TogoVar | ||
ZNF492_chr19_22629324_22672671 | 22634476 | T | G | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(65): Show |
a0002a0005a0008others(1): Show | a0002c0002a0002c0013a0005c0005others(2): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0037others(8): Show | a0002c0002t0003g0003a0002c0002t0003g0007a0002c0002t0003g0008others(52): Show | 68 | 366 | 0.1858 | 0 | c.-94 others(5): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | chr19 | 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 | |||||
ZNF567_chr19_36682612_36726336 | 36689395 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(155): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(101): Show | 158 | 386 | 0.4093 | 0 | c.-16 others(6): Show |
ZNF567 | ENSG00000189042.14 | transcript | ENST00000682579.1 | protein_coding | 1/5 | 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 |