view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0003a0007others(1): Show | a0001c0002a0001c0003a0001c0005others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 others(83): Show |
228 | 430 | 0.5302 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | |||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show |
162 | 400 | 0.4050 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show |
267 | 364 | 0.7335 | 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 | |||
SLC22A24_chr11_63074940_63149221 | 63143377 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00642.hp1 others(83): Show |
a0003a0005a0009others(2): Show | a0003c0003a0003c0008a0005c0006others(4): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(7): Show | a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0026 others(77): Show |
86 | 364 | 0.2363 | 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 | a0002c0002t0004g0153 a0002c0002t0007g0154 a0002c0002t0022g0280 others(25): Show |
30 | 342 | 0.0877 | 0 | c.403 others(5): Show |
SLC22A25 | ENSG00000196600.13 | transcript | ENST00000306494.11 | protein_coding | 4/11 | chr11 | TogoVar | |||||||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show |
316 | 410 | 0.7707 | 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 | |||
SLC38A4_chr12_46759761_46830997 | 46779632 | G | T | stop_gained | HIGH | HG03195.hp2 | a0011 | a0011c0009 | a0011c0009t0002 | a0011c0009t0002g0245 | 1 | 382 | 0.0026 | 0 | c.696 others(3): Show |
p.Cys others(4): Show |
SLC38A4 | ENSG00000139209.16 | transcript | ENST00000266579.9 | protein_coding | 10/17 | 1095/3983 | 696/1644 | 232/547 | chr12 | TogoVar | |||
SLC5A9_chr1_48217716_48253638 | 48242556 | G | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00639.hp2 others(35): Show |
a0003a0015 | a0003c0003a0003c0008a0015c0022 | a0003c0003t0001a0003c0003t0002a0003c0008t0002others(1): Show | a0003c0003t0001g0005 a0003c0003t0002g0005 a0003c0003t0002g0019 others(24): Show |
38 | 418 | 0.0909 | 0 | c.177 others(4): Show |
p.Glu others(4): Show |
SLC5A9 | ENSG00000117834.13 | transcript | ENST00000438567.7 | protein_coding | 13/14 | 1798/3162 | 1777/2046 | 593/681 | chr1 | 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 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(103): Show |
140 | 282 | 0.4965 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNX31_chr8_100567889_100654665 | 100596815 | GC | G | frameshift_variant | HIGH | HG01243.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0009a0011a0013 | a0009c0009a0009c0023a0011c0010others(1): Show | a0009c0009t0002a0009c0023t0002a0011c0010t0007others(3): Show | a0009c0009t0002g0029 a0009c0009t0002g0032 a0009c0009t0002g0033 others(8): Show |
11 | 302 | 0.0364 | -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 | |||
SPATC1L_chr21_46156160_46189459 | 46183518 | GGGAGACC others(257): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG02280.hp1 HG02886.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0033 | a0001c0001t0018g0196 a0001c0001t0018g0197 a0001c0001t0033g0198 |
3 | 246 | 0.0122 | -264 | c.-95 others(11): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 703 | chr21 | 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 |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0003a0002c0002t0022a0002c0002t0023others(1): Show | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0044 others(15): Show |
24 | 250 | 0.0960 | -247 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 735 | chr21 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36601940 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0060 others(59): Show |
98 | 342 | 0.2866 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | 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 | a0001c0004t0002a0001c0005t0001a0001c0005t0003others(59): Show | a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show |
78 | 143 | 0.5455 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TAAR9_chr6_132533277_132544336 | 132538470 | A | T | stop_gained | HIGH | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(71): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 |
74 | 428 | 0.1729 | 0 | c.181 others(3): Show |
p.Lys others(3): Show |
TAAR9 | ENSG00000237110.3 | transcript | ENST00000434551.3 | protein_coding | 1/1 | 194/1060 | 181/1047 | 61/348 | chr6 | TogoVar | |||
TACR3_chr4_103581031_103724985 | 103719575 | GTGGCCGC others(33): Show |
G | frameshift_variant | HIGH | HG03195.hp2 | a0004 | a0004c0005 | a0004c0005t0017 | a0004c0005t0017g0130 | 1 | 278 | 0.0036 | -40 | c.61_ others(46): Show |
p.Ala others(4): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 1/5 | 410/5359 | 61/1398 | 21/465 | chr4 | TogoVar | |||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show |
a0002a0006a0010 | a0002c0002a0006c0009a0010c0010 | a0002c0002t0001a0006c0009t0001a0010c0010t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 |
66 | 294 | 0.2245 | 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 | |||
TAS2R8_chr12_10801051_10812286 | 10806935 | C | A | stop_gained | HIGH | HG01884.hp2 HG03195.hp1 HG03486.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 3 | 408 | 0.0074 | 0 | c.46G others(2): Show |
p.Glu others(3): Show |
TAS2R8 | ENSG00000121314.3 | transcript | ENST00000240615.3 | protein_coding | 1/1 | 352/1236 | 46/930 | 16/309 | chr12 | TogoVar | |||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
273 | 307 | 0.8893 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | 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(8): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show |
118 | 268 | 0.4403 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TEX22_chr14_105393538_105418859 | 105399471 | G | GA | frameshift_variant | HIGH | HG02055.hp1 HG02257.hp2 HG02965.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0004 | a0002c0004t0001g0024 a0002c0004t0001g0168 a0002c0004t0001g0169 others(1): Show |
5 | 366 | 0.0137 | 1 | c.132 others(4): Show |
p.Leu others(4): Show |
TEX22 | ENSG00000226174.7 | transcript | ENST00000451127.3 | protein_coding | 2/4 | 270/2616 | 133/453 | 45/150 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
THSD8_chr19_12797069_12809389 | 12804301 | T | C | stop_lost | HIGH | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0036 | 1 | 418 | 0.0024 | 0 | c.346 others(3): Show |
p.Ter others(11): Show |
THSD8 | ENSG00000284491.3 | transcript | ENST00000639810.3 | protein_coding | 2/2 | 349/437 | 346/348 | 116/115 | chr19 | TogoVar | |||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(189): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(26): Show |
192 | 434 | 0.4424 | -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 | |||
TIGD6_chr5_149988118_150005654 | 149996157 | TC | T | frameshift_variant | HIGH | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0004a0006 | a0004c0004a0004c0006a0004c0007others(2): Show | a0004c0004t0006a0004c0004t0009a0004c0004t0017others(5): Show | a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 others(8): Show |
36 | 434 | 0.0829 | -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 | |||
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 | a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show |
102 | 470 | 0.2170 | 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(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01099.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0013 | a0001c0007a0001c0017a0001c0020others(2): Show | a0001c0007t0001a0001c0017t0001a0001c0020t0001others(3): Show | a0001c0007t0001g0030 a0001c0007t0001g0102 a0001c0007t0001g0156 others(9): Show |
12 | 193 | 0.0622 | 10 | c.184 others(24): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | 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 | a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(112): Show |
125 | 306 | 0.4085 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TNFSF10_chr3_172500508_172528430 | 172523163 | TTCAGAGA others(83): Show |
T | frameshift_variant others(3): Show |
HIGH | HG03195.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0057 | 1 | 436 | 0.0023 | -90 | c.132 others(100): Show |
p.Met others(4): Show |
TNFSF10 | ENSG00000121858.11 | transcript | ENST00000241261.7 | protein_coding | 1/5 | 132/846 | 44/281 | chr3 | TogoVar | ||||
TNIP1_chr5_151024945_151086034 | 151033665 | A | AG | frameshift_variant | HIGH | HG00597.hp1 HG00639.hp1 HG00673.hp2 others(22): Show |
a0003a0010a0016others(2): Show | a0003c0003a0003c0009a0010c0024others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0022 a0003c0003t0001g0075 a0003c0003t0001g0104 others(21): Show |
25 | 397 | 0.0630 | 1 | c.172 others(5): Show |
p.Pro others(5): Show |
TNIP1 | ENSG00000145901.16 | transcript | ENST00000521591.6 | protein_coding | 16/18 | 1912/2870 | 1721/1911 | 574/636 | chr5 | TogoVar | |||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0010a0011others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show |
53 | 370 | 0.1432 | 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 | |||
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 | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(28): Show |
72 | 268 | 0.2687 | -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 | ||
TTC24_chr1_156574723_156592719 | 156583439 | GC | G | frameshift_variant | HIGH | HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show |
a0003a0008a0010 | a0003c0004a0008c0010a0010c0011 | a0003c0004t0001a0003c0004t0006a0003c0004t0012others(2): Show | a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0024 others(9): Show |
26 | 440 | 0.0591 | -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 | ||
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 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show |
177 | 426 | 0.4155 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
TYRP1_chr9_12688385_12715285 | 12709125 | T | G | stop_gained | HIGH | HG02451.hp2 HG03195.hp2 HG03516.hp1 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0008 | 3 | 436 | 0.0069 | 0 | c.155 others(4): Show |
p.Tyr others(4): Show |
TYRP1 | ENSG00000107165.13 | transcript | ENST00000388918.10 | protein_coding | 8/8 | 1736/2896 | 1557/1614 | 519/537 | chr9 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show |
211 | 284 | 0.7430 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(18): Show |
63 | 460 | 0.1370 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGCA others(8): Show |
start_lost others(1): Show |
HIGH | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0121 | 1 | 40 | 0.0250 | 15 | c.-15 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
UNC93A_chr6_167286315_167321014 | 167296214 | G | A | stop_gained | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show |
a0004 | a0004c0004a0004c0008a0004c0011others(4): Show | a0004c0004t0003a0004c0004t0006a0004c0008t0001others(6): Show | a0004c0004t0003g0006 a0004c0004t0003g0011 a0004c0004t0003g0029 others(42): Show |
54 | 446 | 0.1211 | 0 | c.452 others(3): Show |
p.Trp others(4): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 3/8 | 627/2111 | 452/1374 | 151/457 | chr6 | TogoVar | |||
USP17L1_chr8_7327387_7338979 | 7332253 | TTGGTGGG others(4721): Show |
T | transcript_ablation | HIGH | HG00408.hp2 HG00741.hp1 HG02451.hp2 others(13): Show |
a0003 | a0003c0000 | a0003c0000t0000 | a0003c0000t0000g0000 | 16 | 375 | 0.0427 | -4728 | c.-13 others(10): Show |
p.0? | USP17L1 | ENSG00000230549.3 | transcript | ENST00000529559.1 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | |||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0009a0001c0042others(26): Show | a0001c0001t0001a0001c0001t0021a0001c0009t0002others(44): Show | a0001c0001t0001g0008 a0001c0001t0021g0008 a0001c0009t0002g0001 others(61): Show |
137 | 270 | 0.5074 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(233): Show |
239 | 356 | 0.6713 | 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 | |||
VNN1_chr6_132675849_132719055 | 132683142 | A | G | stop_lost | HIGH | HG02055.hp2 HG02145.hp1 HG02723.hp2 others(10): Show |
a0005a0008a0015 | a0005c0005a0005c0008a0008c0007others(1): Show | a0005c0005t0010a0005c0005t0020a0005c0005t0022others(6): Show | a0005c0005t0010g0039 a0005c0005t0010g0123 a0005c0005t0020g0122 others(9): Show |
13 | 416 | 0.0313 | 0 | c.154 others(4): Show |
p.Ter others(11): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 7/7 | 1560/3853 | 1540/1542 | 514/513 | chr6 | TogoVar | |||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTTTTT others(16): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01515.hp2 HG03195.hp1 NA18992.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0007 | a0002c0003t0003g0059 a0002c0003t0003g0099 a0002c0003t0007g0017 |
3 | 53 | 0.0566 | 23 | c.933 others(37): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VWDE_chr7_12325885_12408865 | 12336140 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02145.hp2 HG02280.hp1 HG02451.hp1 others(6): Show |
a0002a0012a0028 | a0002c0043a0012c0011a0028c0029 | a0002c0043t0002a0012c0011t0002a0028c0029t0001 | a0002c0043t0002g0269 a0012c0011t0002g0015 a0012c0011t0002g0260 others(3): Show |
9 | 372 | 0.0242 | 0 | c.465 others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 27/28 | chr7 | TogoVar | |||||||
VWDE_chr7_12325885_12408865 | 12342095 | AC | A | frameshift_variant | HIGH | HG02145.hp2 HG02280.hp1 HG02451.hp1 others(6): Show |
a0002a0012a0028 | a0002c0043a0012c0011a0028c0029 | a0002c0043t0002a0012c0011t0002a0028c0029t0001 | a0002c0043t0002g0269 a0012c0011t0002g0015 a0012c0011t0002g0260 others(3): Show |
9 | 372 | 0.0242 | -1 | c.423 others(5): Show |
p.Gln others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 23/29 | 4382/5220 | 4233/4773 | 1411/1590 | chr7 | TogoVar | |||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0009a0012others(7): Show | a0002c0002a0002c0042a0002c0043others(9): Show | a0002c0002t0002a0002c0042t0002a0002c0043t0002others(10): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(36): Show |
72 | 372 | 0.1935 | 1 | c.381 others(5): Show |
p.Lys others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 19/29 | 3965/5220 | 3816/4773 | 1272/1590 | chr7 | TogoVar | |||
VWDE_chr7_12325885_12408865 | 12375099 | G | A | stop_gained | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show |
a0002a0009a0012others(3): Show | a0002c0002a0002c0039a0002c0040others(12): Show | a0002c0002t0002a0002c0039t0002a0002c0040t0002others(12): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(37): Show |
73 | 372 | 0.1962 | 0 | c.115 others(4): Show |
p.Arg others(4): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 8/29 | 1302/5220 | 1153/4773 | 385/1590 | chr7 | TogoVar | |||
WDR90_chr16_644365_672830 | 649418 | T | C | start_lost | HIGH | HG02895.hp2 HG03195.hp1 |
a0016 | a0016c0019 | a0016c0019t0001 | a0016c0019t0001g0095 a0016c0019t0001g0096 |
2 | 374 | 0.0053 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
WDR90 | ENSG00000161996.19 | transcript | ENST00000293879.9 | protein_coding | 1/41 | 54/5540 | 2/5247 | 1/1748 | chr16 | TogoVar | |||
WNT7B_chr22_45915366_45982162 | 45931228 | C | T | stop_gained | HIGH | HG03195.hp2 | a0003 | a0003c0006 | a0003c0006t0064 | a0003c0006t0064g0343 | 1 | 348 | 0.0029 | 0 | c.440 others(3): Show |
p.Trp others(4): Show |
WNT7B | ENSG00000188064.10 | transcript | ENST00000339464.9 | protein_coding | 3/4 | 848/3948 | 440/1050 | 147/349 | chr22 | TogoVar |