| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||||||
| HAVCR1_chr5_157024413_157064116 | 157057897 | C | T | splice_donor_variant others(1): Show |
HIGH | NA19043.hp2 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0225 | 1 | 350 | 0.0029 | 0 | c.46+ others(4): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
| HAVCR1_chr5_157024413_157064116 | 157058920 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01070.hp2 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001a0002a0005 | a0001c0008a0002c0002a0005c0006 | a0001c0008t0001a0002c0002t0001a0005c0006t0003 | a0001c0008t0001g0065 a0002c0002t0001g0064 a0005c0006t0003g0004 others(1): Show |
7 | 350 | 0.0200 | 0 | c.-13 others(5): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
| HBM_chr16_160978_171764 | 166091 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01123.hp1 HG01346.hp1 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 4 | 368 | 0.0109 | 0 | c.92+ others(4): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1/2 | 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 | |||||||
| HES2_chr1_6410232_6424919 | 6419774 | A | C | splice_donor_variant others(1): Show |
HIGH | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 360 | 0.0028 | 0 | c.45+ others(4): Show |
HES2 | ENSG00000069812.11 | transcript | ENST00000377834.8 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| HESX1_chr3_57192838_57204978 | 57199736 | ATTGAAAC others(27): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG01346.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0014 | 1 | 334 | 0.0030 | -34 | c.149 others(44): Show |
p.Ser others(17): Show |
HESX1 | ENSG00000163666.10 | transcript | ENST00000295934.8 | protein_coding | 1/4 | 149/558 | 50/185 | chr3 | TogoVar | ||||
| HFE_chr6_26082429_26103343 | 26093233 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 400 | 0.0025 | 0 | c.100 others(6): Show |
HFE | ENSG00000010704.19 | transcript | ENST00000357618.10 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
| HHLA1_chr8_132056480_132116157 | 132089515 | C | A | splice_donor_variant others(1): Show |
HIGH | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 378 | 0.0026 | 0 | c.532 others(5): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 8/16 | chr8 | TogoVar | |||||||
| HLA-E_chr6_30484509_30499194 | 30490476 | AAATACCT others(51): Show |
A | splice_donor_variant others(3): Show |
HIGH | NA18979.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0011 | 1 | 456 | 0.0022 | -58 | c.572 others(68): Show |
p.Tyr others(13): Show |
HLA-E | ENSG00000204592.9 | transcript | ENST00000376630.5 | protein_coding | 3/8 | 595/2548 | 572/1077 | 191/358 | chr6 | TogoVar | |||
| HOOK2_chr19_12758003_12780552 | 12772779 | C | A | splice_donor_variant others(1): Show |
HIGH | HG03130.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0098 | 1 | 358 | 0.0028 | 0 | c.388 others(5): Show |
HOOK2 | ENSG00000095066.12 | transcript | ENST00000397668.8 | protein_coding | 5/22 | chr19 | 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 | |||||||
| HSD17B13_chr4_87298794_87327882 | 87310240 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show |
a0001a0006a0009 | a0001c0001a0006c0008a0009c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(70): Show |
96 | 440 | 0.2182 | 1 | c.812 others(6): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | 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 | |||||||
| HTN1_chr4_70045438_70063848 | 70055604 | T | C | splice_donor_variant others(1): Show |
HIGH | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 438 | 0.0023 | 0 | c.*33 others(5): Show |
HTN1 | ENSG00000126550.10 | transcript | ENST00000246896.8 | protein_coding | 5/5 | 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 | |||||||
| HYI_chr1_43445989_43458931 | 43451405 | CTCACCTC others(6): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA18951.hp2 NA18997.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0017 | 2 | 420 | 0.0048 | -13 | c.752 others(22): Show |
p.Gln others(19): Show |
HYI | ENSG00000178922.18 | transcript | ENST00000372430.9 | protein_coding | 7/8 | 752/834 | 251/277 | chr1 | TogoVar | ||||
| ICAM2_chr17_63997595_64025633 | 64020522 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02257.hp2 HG02622.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 |
3 | 390 | 0.0077 | 0 | c.-45 others(5): Show |
ICAM2 | ENSG00000108622.11 | transcript | ENST00000579788.6 | protein_coding | 1/4 | chr17 | 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 | ||||||
| IFIH1_chr2_162262074_162323684 | 162268086 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18994.hp1 NA19074.hp1 NA19080.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0049 a0003c0002t0001g0118 a0003c0002t0001g0158 |
3 | 218 | 0.0138 | 0 | c.280 others(6): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 14/15 | chr2 | TogoVar | |||||||
| IFIH1_chr2_162262074_162323684 | 162279995 | C | G | splice_donor_variant others(1): Show |
HIGH | HG01516.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0113 | 1 | 218 | 0.0046 | 0 | c.164 others(6): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 8/15 | chr2 | TogoVar | |||||||
| IGLL5_chr22_22882816_22901111 | 22888260 | G | C | splice_donor_variant others(1): Show |
HIGH | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 300 | 0.0033 | 0 | c.206 others(5): Show |
IGLL5 | ENSG00000254709.8 | transcript | ENST00000526893.6 | protein_coding | 1/2 | chr22 | 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 | |||||||
| IL17F_chr6_52231681_52249500 | 52238729 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 NA18942.hp2 NA18969.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0056 |
5 | 430 | 0.0116 | 0 | c.254 others(5): Show |
IL17F | ENSG00000112116.11 | transcript | ENST00000336123.5 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
| IL21R_chr16_27397174_27457042 | 27442972 | T | TCCCCCTT others(137): Show |
splice_donor_variant others(1): Show |
HIGH | NA18522.hp1 | a0005 | a0005c0009 | a0005c0009t0007 | a0005c0009t0007g0229 | 1 | 370 | 0.0027 | 144 | c.364 others(151): Show |
IL21R | ENSG00000103522.17 | transcript | ENST00000337929.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| IL4I1_chr19_49884654_49901887 | 49894246 | GGAGGGTG others(20): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG02523.hp1 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0105 | 1 | 426 | 0.0023 | -27 | c.562 others(37): Show |
p.Asn others(13): Show |
IL4I1 | ENSG00000104951.16 | transcript | ENST00000391826.7 | protein_coding | 5/8 | 562/1704 | 188/567 | chr19 | TogoVar | ||||
| IL5RA_chr3_3061324_3115374 | 3092223 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0086 | 1 | 452 | 0.0022 | 0 | c.994 others(5): Show |
IL5RA | ENSG00000091181.20 | transcript | ENST00000446632.7 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
| IQCH_chr15_67249786_67506804 | 67279510 | AAGGTAGG others(3): Show |
A | splice_donor_variant others(2): Show |
HIGH | NA18989.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0007 | 1 | 274 | 0.0036 | -10 | c.387 others(22): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | 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 | |||||||
| IRAK1BP1_chr6_78862551_78908102 | 78897960 | G | GCGGTTGT others(30): Show |
splice_donor_variant others(1): Show |
HIGH | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0101 | a0001c0002t0101g0270 | 1 | 344 | 0.0029 | 37 | c.512 others(48): Show |
IRAK1BP1 | ENSG00000146243.14 | transcript | ENST00000369940.7 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| ISCU_chr12_108557596_108574368 | 108565432 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02622.hp2 | a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0025 | 1 | 444 | 0.0023 | 0 | c.339 others(5): Show |
ISCU | ENSG00000136003.16 | transcript | ENST00000311893.14 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
| ISOC2_chr19_55447985_55466642 | 55461510 | AC | A | splice_donor_variant others(1): Show |
HIGH | HG02738.hp2 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0054 a0001c0001t0003g0165 |
3 | 378 | 0.0079 | -1 | c.-4+ others(5): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
| ISYNA1_chr19_18429388_18443133 | 18436682 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 306 | 0.0033 | 0 | c.609 others(5): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 5/10 | chr19 | TogoVar | |||||||
| ITGAE_chr17_3709628_3806188 | 3756982 | A | T | splice_donor_variant others(1): Show |
HIGH | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 | 1 | 300 | 0.0033 | 0 | c.117 others(6): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 10/30 | chr17 | TogoVar | |||||||
| ITGAX_chr16_31350176_31387999 | 31372510 | G | A | splice_donor_variant others(1): Show |
HIGH | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 348 | 0.0029 | 0 | c.229 others(6): Show |
ITGAX | ENSG00000140678.17 | transcript | ENST00000268296.9 | protein_coding | 18/29 | chr16 | TogoVar | |||||||
| ITIH1_chr3_52772599_52797062 | 52783126 | G | A | splice_donor_variant others(1): Show |
HIGH | HG03704.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0039 | 1 | 404 | 0.0025 | 0 | c.109 others(6): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 9/21 | chr3 | TogoVar | |||||||
| ITIH2_chr10_7698316_7754520 | 7709192 | G | C | splice_donor_variant others(1): Show |
HIGH | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 378 | 0.0026 | 0 | c.362 others(5): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
| ITPR2_chr12_26330352_26838194 | 26681871 | T | TACTC | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(101): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0052 others(101): Show |
104 | 140 | 0.7429 | 4 | c.140 others(17): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | |||||||
| KASH5_chr19_49383249_49422990 | 49390927 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00733.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0062 | 1 | 352 | 0.0028 | 0 | c.43+ others(4): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 2/19 | chr19 | TogoVar | |||||||
| KASH5_chr19_49383249_49422990 | 49409254 | CTGGGCTT others(23): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA18985.hp2 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0082 | 1 | 352 | 0.0028 | -30 | c.112 others(41): Show |
p.Leu others(13): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 14/20 | 1297/2343 | 1123/1689 | 375/562 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| KCNJ16_chr17_70070225_70140608 | 70100767 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0240 others(46): Show |
50 | 328 | 0.1524 | 0 | c.-19 others(6): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
| KCNJ16_chr17_70070225_70140608 | 70130976 | G | A | splice_donor_variant others(1): Show |
HIGH | HG03669.hp2 | a0002 | a0002c0011 | a0002c0011t0030 | a0002c0011t0030g0291 | 1 | 328 | 0.0030 | 0 | c.-94 others(5): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 3/3 | chr17 | TogoVar | |||||||
| KCNK4_chr11_64286302_64305031 | 64297281 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01361.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0068 | 1 | 404 | 0.0025 | 0 | c.474 others(5): Show |
KCNK4 | ENSG00000182450.14 | transcript | ENST00000422670.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
| KIAA0408_chr6_127433406_127464389 | 127459174 | C | A | splice_donor_variant others(1): Show |
HIGH | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 348 | 0.0029 | 0 | c.-12 others(6): Show |
KIAA0408 | ENSG00000189367.15 | transcript | ENST00000483725.8 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
| KIAA1191_chr5_176341062_176366764 | 176361601 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 403 | 0.0025 | 0 | c.-16 others(6): Show |
KIAA1191 | ENSG00000122203.15 | transcript | ENST00000298569.9 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
| KIF16B_chr20_16267104_16578448 | 16371664 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18966.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0077 | 1 | 248 | 0.0040 | 0 | c.344 others(6): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 21/25 | chr20 | TogoVar | |||||||
| KIF1B_chr1_10205570_10386603 | 10210879 | G | T | splice_donor_variant others(1): Show |
HIGH | HG01167.hp2 HG02145.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0019a0001c0001t0027 | a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0012g0299 others(3): Show |
6 | 298 | 0.0201 | 0 | c.-80 others(5): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 1/48 | chr1 | TogoVar | |||||||
| KIR3DL1_chr19_54811468_54835778 | 54829458 | C | CA | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0003a0002c0031a0026c0030 | a0002c0003t0002a0002c0031t0002a0026c0030t0002 | a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show |
62 | 394 | 0.1574 | 1 | c.110 others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| KIR3DL2_chr19_54845443_54872207 | 54851256 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 440 | 0.0023 | 0 | c.70+ others(4): Show |
KIR3DL2 | ENSG00000240403.5 | transcript | ENST00000326321.7 | protein_coding | 2/8 | chr19 | TogoVar |