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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOSC7_chr3_44971244_45016471 | 45003609 | TAGCTGGA others(6001): Show |
T | exon_loss_variant | HIGH | NA19057.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0155 | 1 | 338 | 0.0030 | -6008 | c.492 others(17): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAM3B_chr21_41311801_41362727 | 41346027 | AAAAAAAA others(5917): Show |
A | exon_loss_variant | HIGH | HG02293.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0219 | 1 | 312 | 0.0032 | -5924 | c.397 others(16): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
FAM53C_chr5_138333266_138354729 | 138339945 | GGAAGAGC others(4427): Show |
G | exon_loss_variant | HIGH | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0035 | 1 | 430 | 0.0023 | -4434 | c.-15 others(17): Show |
FAM53C | ENSG00000120709.11 | transcript | ENST00000239906.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FAM90A7_chr8_7551700_7564712 | 7559000 | AAGGTCGC others(5705): Show |
A | exon_loss_variant | HIGH | NA19043.hp2 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0017 | 1 | 18 | 0.0556 | -5712 | c.-50 others(9): Show |
FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/4 | 217/1395 | chr8 | TogoVar | ||||||
FAM9A_chrX_8785795_8806383 | 8799524 | CGGCGGCC others(1108): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG03239.hp1 | a0009 | a0009c0011 | a0009c0011t0005 | a0009c0011t0005g0061 | 1 | 301 | 0.0033 | -1115 | c.-38 others(14): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 2/10 | chrX | TogoVar | |||||||
FAM9A_chrX_8785795_8806383 | 8799835 | CGGGCCCT others(1108): Show |
C | exon_loss_variant others(1): Show |
HIGH | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 299 | 0.0033 | -1115 | c.-39 others(14): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 2/10 | chrX | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8126426 | CTTTTCCC others(2729): Show |
C | exon_loss_variant | HIGH | NA18962.hp1 NA19088.hp2 |
a0047 | a0047c0048 | a0047c0048t0001 | a0047c0048t0001g0155 a0047c0048t0001g0159 |
2 | 378 | 0.0053 | -2736 | c.217 others(14): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 20/64 | chr19 | TogoVar | |||||||
FFAR3_chr19_35353460_35365489 | 35359023 | CGCCGCCC others(6459): Show |
C | frameshift_variant others(4): Show |
HIGH | HG02602.hp2 | a0012 | a0012c0013 | a0012c0013t0011 | a0012c0013t0011g0001 | 1 | 385 | 0.0026 | -6466 | c.134 others(9): Show |
p.Arg others(4): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | 335/1800 | 134/1041 | 45/346 | chr19 | TogoVar | |||
FMO5_chr1_147181261_147230339 | 147189008 | GCTCATGC others(9568): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02451.hp2 HG03225.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 2 | 406 | 0.0049 | -9575 | c.118 others(19): Show |
FMO5 | ENSG00000131781.13 | transcript | ENST00000254090.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
FUT2_chr19_48690971_48710951 | 48697403 | CCTGTAAT others(10070): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG03017.hp1 HG04184.hp2 HG04199.hp1 others(1): Show |
a0002 | a0002c0000 | a0002c0000t0002 | a0002c0000t0002g0016 a0002c0000t0002g0034 |
4 | 392 | 0.0102 | -10077 | c.-3+ others(13): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
FYB2_chr1_56713789_56824404 | 56743073 | ATTTTAAA others(1610): Show |
A | exon_loss_variant | HIGH | HG00597.hp2 NA19063.hp1 |
a0006 | a0006c0017a0006c0022 | a0006c0017t0001a0006c0022t0002 | a0006c0017t0001g0264 a0006c0022t0002g0227 |
2 | 378 | 0.0053 | -1617 | c.138 others(17): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 11/20 | chr1 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30778146 | CAAAAAGA others(149): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA19002.hp1 | a0009 | a0009c0008 | a0009c0008t0003 | a0009c0008t0003g0268 | 1 | 280 | 0.0036 | -156 | c.130 others(15): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30828024 | CCTGGCAG others(8480): Show |
C | exon_loss_variant | HIGH | HG00544.hp1 | a0005 | a0005c0006 | a0005c0006t0040 | a0005c0006t0040g0281 | 1 | 280 | 0.0036 | -8487 | c.904 others(18): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/15 | chr3 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81627315 | GTGTCAAG others(16269): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00597.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0103 | 1 | 302 | 0.0033 | -16276 | c.783 others(17): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 7/16 | chr3 | TogoVar | |||||||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0011a0014 | a0002c0002a0011c0011a0014c0017 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0008 a0002c0002t0003g0014 a0002c0002t0003g0015 others(52): Show |
82 | 434 | 0.1889 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10520105 | GTACTAAA others(13027): Show |
G | exon_loss_variant | HIGH | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0322 | 1 | 322 | 0.0031 | -13034 | c.-17 others(14): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10520791 | TCCCCAGT others(1511): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG02976.hp2 NA19043.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0008g0198 |
3 | 322 | 0.0093 | -1518 | c.-10 others(14): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show |
89 | 208 | 0.4279 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6585037 | ACGCCTGG others(4624): Show |
A | exon_loss_variant | HIGH | NA19005.hp1 | a0016 | a0016c0028 | a0016c0028t0001 | a0016c0028t0001g0247 | 1 | 340 | 0.0029 | -4631 | c.148 others(18): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 15/25 | chr9 | TogoVar | |||||||
GMPS_chr3_155865650_155949020 | 155877738 | GGTGAGGG others(20067): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG04204.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0060 | 1 | 378 | 0.0026 | -20074 | c.27+ others(15): Show |
GMPS | ENSG00000163655.16 | transcript | ENST00000496455.7 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
GNPTG_chr16_1346931_1369113 | 1356771 | GTCTCCAA others(8137): Show |
G | exon_loss_variant | HIGH | HG02922.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0042 | 1 | 376 | 0.0027 | -8144 | c.178 others(14): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GOLGA6C_chr15_75253334_75278455 | 75265352 | GGACGAAT others(13096): Show |
G | exon_loss_variant | HIGH | HG04115.hp2 | a0011 | a0011c0018 | a0011c0018t0005 | a0011c0018t0005g0114 | 1 | 139 | 0.0072 | -13103 | c.688 others(9): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 10/18 | 953/5603 | chr15 | TogoVar | ||||||
GOLGA6C_chr15_75253334_75278455 | 75266025 | GTTTTTTT others(12423): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 | a0011 | a0011c0019 | a0011c0019t0005 | a0011c0019t0005g0115 | 1 | 156 | 0.0064 | -12430 | c.848 others(12): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 11/18 | chr15 | TogoVar | |||||||
GOLGA6L22_chr15_22453903_22474226 | 22463592 | GGTGAGCT others(4254): Show |
G | exon_loss_variant | HIGH | HG03669.hp2 | a0009 | a0009c0011 | a0009c0011t0005 | a0009c0011t0005g0013 | 1 | 224 | 0.0045 | -4261 | c.562 others(12): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLGA8G_chr15_28514611_28537971 | 28521486 | AGCTTTCC others(4921): Show |
A | exon_loss_variant | HIGH | HG02055.hp1 HG02145.hp1 HG02809.hp2 others(2): Show |
a0003 | a0003c0003a0003c0014 | a0003c0003t0004a0003c0003t0008a0003c0014t0004 | a0003c0003t0004g0005 a0003c0003t0008g0021 a0003c0014t0004g0020 |
5 | 100 | 0.0500 | -4928 | c.101 others(10): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 18/19 | 3095/4971 | chr15 | TogoVar | ||||||
GYPC_chr2_126651158_126701667 | 126691222 | GAGGCTTG others(3578): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01934.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 a0001c0001t0002g0323 |
2 | 414 | 0.0048 | -3585 | c.106 others(15): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HBA1_chr16_171680_182522 | 173679 | CTGGTCTT others(3805): Show |
C | exon_loss_variant | HIGH | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | -3812 | c.-30 others(9): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249028 | CGACCATA others(4913): Show |
C | exon_loss_variant | HIGH | HG01123.hp1 HG02132.hp1 |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0014 | 2 | 432 | 0.0046 | -4920 | c.-41 others(13): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249253 | CCCCAACC others(4917): Show |
C | exon_loss_variant | HIGH | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 327 | 0.0031 | -4924 | c.-43 others(13): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249456 | GTGGCATC others(4917): Show |
G | exon_loss_variant | HIGH | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 60 | 0.0167 | -4924 | c.-45 others(9): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 1/3 | 279/587 | chr11 | TogoVar | ||||||
HBG2_chr11_5248188_5259781 | 5249028 | CGACCATA others(4913): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01123.hp1 HG02132.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 2 | 428 | 0.0047 | -4920 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
HBG2_chr11_5248188_5259781 | 5249253 | CCCCAACC others(4917): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 322 | 0.0031 | -4924 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 179343 | AAAAAGAA others(1560): Show |
A | exon_loss_variant | HIGH | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 1 | 382 | 0.0026 | -1567 | c.-11 others(12): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 153236 | GTTCCCTC others(6260): Show |
G | exon_loss_variant | HIGH | HG01433.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0041 | 1 | 393 | 0.0025 | -6267 | c.95+ others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154121 | GGCGGGAC others(5375): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 431 | 0.0023 | -5382 | c.300 others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0008a0021 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0007others(5): Show | a0001c0001t0002g0165 a0001c0001t0002g0199 a0001c0001t0002g0207 others(88): Show |
96 | 366 | 0.2623 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
HGFAC_chr4_3436968_3454486 | 3444165 | AGCTGGGC others(4171): Show |
A | exon_loss_variant | HIGH | HG00738.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0057 | 1 | 452 | 0.0022 | -4178 | c.598 others(13): Show |
HGFAC | ENSG00000109758.9 | transcript | ENST00000382774.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36958222 | GACAGAGT others(13440): Show |
G | exon_loss_variant | HIGH | HG01981.hp2 | a0005 | a0005c0018 | a0005c0018t0087 | a0005c0018t0087g0258 | 1 | 256 | 0.0039 | -13447 | c.-50 others(14): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 2/11 | chr21 | TogoVar | |||||||
HPF1_chr4_169724470_169762944 | 169750081 | ATATTCCT others(2957): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG03927.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0108 | 1 | 318 | 0.0031 | -2964 | c.208 others(15): Show |
HPF1 | ENSG00000056050.7 | transcript | ENST00000393381.3 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
HPS3_chr3_149124638_149178732 | 149126713 | CTACTAAA others(3893): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG01106.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 1 | 390 | 0.0026 | -3900 | c.-30 others(13): Show |
HPS3 | ENSG00000163755.9 | transcript | ENST00000296051.7 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
HP_chr16_72049505_72066055 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0005a0002c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0022 others(6): Show |
105 | 424 | 0.2476 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HP_chr16_72049505_72066055 | 72057480 | ACTGAGCA others(1708): Show |
A | exon_loss_variant | HIGH | HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0003g0004 others(5): Show |
58 | 424 | 0.1368 | -1715 | c.265 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HTN1_chr4_70045438_70063848 | 70049113 | AACATGCA others(1690): Show |
A | splice_donor_variant others(4): Show |
HIGH | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 1 | 438 | 0.0023 | -1697 | c.-13 others(13): Show |
HTN1 | ENSG00000126550.10 | transcript | ENST00000246896.8 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
HTR3E_chr3_184092064_184111995 | 184099474 | GGAGGCCG others(1967): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00609.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0114 | 1 | 420 | 0.0024 | -1974 | c.68- others(14): Show |
HTR3E | ENSG00000186038.9 | transcript | ENST00000415389.6 | protein_coding | 2/9 | chr3 | TogoVar | |||||||
IFI16_chr1_159004907_159060151 | 159045042 | CGTGAAGA others(4128): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp1 HG01192.hp1 HG01516.hp2 others(3): Show |
a0006 | a0006c0010a0006c0019 | a0006c0010t0002a0006c0019t0001 | a0006c0010t0002g0027 a0006c0010t0002g0028 a0006c0010t0002g0212 others(1): Show |
6 | 316 | 0.0190 | -4135 | c.149 others(15): Show |
IFI16 | ENSG00000163565.20 | transcript | ENST00000295809.12 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFI35_chr17_43001784_43019456 | 43011303 | GAGGTCAG others(1079): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18953.hp2 NA18969.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0030 | 2 | 338 | 0.0059 | -1086 | c.22- others(14): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IHO1_chr3_49194498_49263106 | 49197178 | GACGGGGT others(3996): Show |
G | splice_donor_variant others(4): Show |
HIGH | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0007 | 1 | 196 | 0.0051 | -4003 | c.-24 others(14): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
IQCH_chr15_67249786_67506804 | 67355503 | TGGTGTGA others(2019): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01081.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0048 | 1 | 274 | 0.0036 | -2026 | c.638 others(16): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
KHDC1L_chr6_73218544_73230496 | 73224594 | GTGAAACC others(1657): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG03540.hp2 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0006 | 1 | 418 | 0.0024 | -1664 | c.-85 others(12): Show |
KHDC1L | ENSG00000256980.5 | transcript | ENST00000370388.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
KIR2DL1_chr19_54764793_54789322 | 54766597 | GAGAGGCC others(16435): Show |
G | exon_loss_variant | HIGH | HG00280.hp1 | a0012 | a0012c0014 | a0012c0014t0013 | a0012c0014t0013g0044 | 1 | 340 | 0.0029 | -16442 | c.-32 others(12): Show |
KIR2DL1 | ENSG00000125498.20 | transcript | ENST00000336077.11 | protein_coding | 1/8 | chr19 | TogoVar |