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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HCN2_chr19_584881_622159 | 589922 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0390 | 1 | 408 | 0.0025 | 0 | c.-24 others(3): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/8 | chr19 | TogoVar | ||||||
HDAC10_chr22_50240183_50256265 | 50251225 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp2 HG00597.hp1 HG02155.hp2 others(8): Show |
a0001 | a0001c0001a0001c0028 | a0001c0001t0004a0001c0028t0004 | a0001c0001t0004g0008a0001c0001t0004g0040a0001c0028t0004g0041 | 11 | 448 | 0.0246 | 0 | c.-19 others(4): Show |
HDAC10 | ENSG00000100429.18 | transcript | ENST00000216271.10 | protein_coding | 1/20 | chr22 | TogoVar | ||||||
HDAC2_chr6_113928028_113976148 | 113971021 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02622.hp1 HG02630.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011a0001c0001t0008g0236a0001c0001t0008g0237 | 7 | 402 | 0.0174 | 0 | c.-11 others(4): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 1/14 | chr6 | TogoVar | ||||||
HDAC3_chr5_141615881_141641849 | 141636816 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01433.hp1 HG01975.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026a0001c0001t0003g0048a0001c0001t0003g0227 | 6 | 388 | 0.0155 | 0 | c.-26 others(3): Show |
HDAC3 | ENSG00000171720.10 | transcript | ENST00000305264.8 | protein_coding | 1/15 | chr5 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4472325 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(97): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0003g0003a0001c0001t0003g0012a0001c0001t0003g0013others(95): Show | 100 | 358 | 0.2793 | 0 | c.-26 others(3): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 1/16 | chr19 | TogoVar | ||||||
HDGFL3_chr15_83122753_83212823 | 83207702 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0238 | 1 | 246 | 0.0041 | 0 | c.-28 others(4): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
HDHD3_chr9_113368422_113381986 | 113374396 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp2 HG02451.hp2 HG02922.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0032a0002c0002t0008g0074 | 4 | 464 | 0.0086 | 0 | c.-42 others(3): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 3/3 | chr9 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73558884 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00408.hp2 HG00558.hp2 others(131): Show |
a0001a0006a0007others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(21): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(131): Show | 134 | 368 | 0.3641 | 0 | c.-28 others(4): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1/18 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31420531 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0349 | 1 | 354 | 0.0028 | 0 | c.-13 others(4): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/36 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31420540 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0350 | 1 | 354 | 0.0028 | 0 | c.-14 others(4): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/36 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31420545 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp2 HG02486.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0351a0001c0001t0009g0352a0001c0001t0009g0353others(1): Show | 4 | 354 | 0.0113 | 0 | c.-14 others(4): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/36 | chr14 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37083419 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01496.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0303 | 1 | 314 | 0.0032 | 0 | c.-5C others(2): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37084316 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0311 | 1 | 314 | 0.0032 | 0 | c.-70 others(3): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37084350 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01070.hp1 HG01071.hp2 HG01515.hp2 others(7): Show |
a0001a0002a0009 | a0001c0008a0002c0003a0002c0031others(1): Show | a0001c0008t0003a0002c0003t0003a0002c0031t0003others(1): Show | a0001c0008t0003g0010a0002c0003t0003g0002a0002c0003t0003g0003others(7): Show | 10 | 314 | 0.0319 | 0 | c.-10 others(4): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37084354 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0312 | 1 | 314 | 0.0032 | 0 | c.-10 others(4): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
HECTD1_chr14_31095117_31212793 | 31207662 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01109.hp2 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0014 | a0001c0002t0013g0341a0001c0002t0014g0342 | 2 | 342 | 0.0059 | 0 | c.-66 others(4): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 1/43 | chr14 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63572415 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp2 | a0080 | a0080c0114 | a0080c0114t0108 | a0080c0114t0108g0254 | 1 | 390 | 0.0026 | 0 | c.-30 others(3): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63572869 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0086 | 1 | 390 | 0.0026 | 0 | c.-48 others(4): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
HENMT1_chr1_108643295_108666093 | 108660971 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 442 | 0.0023 | 0 | c.-87 others(3): Show |
HENMT1 | ENSG00000162639.16 | transcript | ENST00000651461.1 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35694351 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0218 | 1 | 392 | 0.0026 | 0 | c.-21 others(3): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35695034 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0392 | 1 | 392 | 0.0026 | 0 | c.-53 others(4): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
HES4_chr1_993964_1005097 | 1000018 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00741.hp2 HG01433.hp2 NA20805.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 4 | 396 | 0.0101 | 0 | c.-45 others(3): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
HEXIM1_chr17_45143475_45157099 | 45148998 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0000 | 2 | 442 | 0.0045 | 0 | c.-19 others(4): Show |
HEXIM1 | ENSG00000186834.4 | transcript | ENST00000332499.4 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79767688 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0035 | 1 | 460 | 0.0022 | 0 | c.-25 others(3): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
HEY2_chr6_125744632_125766269 | 125749665 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01099.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 2 | 400 | 0.0050 | 0 | c.-11 others(4): Show |
HEY2 | ENSG00000135547.9 | transcript | ENST00000368364.4 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
HGH1_chr8_144132774_144145851 | 144137815 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 342 | 0.0029 | 0 | c.-21 others(3): Show |
HGH1 | ENSG00000235173.7 | transcript | ENST00000347708.5 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144646536 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0230 | 1 | 316 | 0.0032 | 0 | c.-14 others(4): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
HHLA2_chr3_108291548_108383285 | 108296554 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01192.hp2 HG02630.hp1 HG03130.hp2 others(1): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0014a0005c0008t0019 | a0002c0003t0014g0018a0002c0003t0014g0019a0002c0003t0014g0020others(1): Show | 4 | 322 | 0.0124 | 0 | c.-15 others(4): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27662833 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0326 | 1 | 326 | 0.0031 | 0 | c.-45 others(3): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190319779 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0357 | 1 | 368 | 0.0027 | 0 | c.-29 others(3): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190319794 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01069.hp2 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0178 | 1 | 368 | 0.0027 | 0 | c.-44 others(3): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
HIGD1A_chr3_42777908_42809490 | 42804467 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0048 | 2 | 400 | 0.0050 | 0 | c.-54 others(3): Show |
HIGD1A | ENSG00000181061.14 | transcript | ENST00000321331.12 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
HIGD1B_chr17_44842883_44855476 | 44847932 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02922.hp2 HG03041.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 4 | 416 | 0.0096 | 0 | c.-22 others(4): Show |
HIGD1B | ENSG00000131097.7 | transcript | ENST00000253410.3 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
HIGD1C_chr12_50947544_50975607 | 50952640 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0109 | 1 | 380 | 0.0026 | 0 | c.-13 others(4): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
HIGD1C_chr12_50947544_50975607 | 50952710 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02717.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057a0001c0001t0004g0058a0001c0001t0004g0059others(1): Show | 4 | 380 | 0.0105 | 0 | c.-69 others(3): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
HINT3_chr6_125951770_125985244 | 125956930 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003a0001c0001t0010g0023 | 2 | 268 | 0.0075 | 0 | c.-48 others(3): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
HIPK3_chr11_33252381_33362023 | 33257482 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0224 | 1 | 342 | 0.0029 | 0 | c.-41 others(4): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12012562 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0226 | 1 | 344 | 0.0029 | 0 | c.-10 others(4): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41584842 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0056 | a0002c0002t0056g0134 | 1 | 134 | 0.0075 | 0 | c.-45 others(3): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
HJV_chr1_146012470_146026735 | 146020254 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 382 | 0.0026 | 0 | c.-23 others(3): Show |
HJV | ENSG00000168509.20 | transcript | ENST00000336751.11 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
HK2_chr2_74829127_74898359 | 74834331 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | homoSapiens_chm13v2.hp1 | a0003 | a0003c0003 | a0003c0003t0050 | a0003c0003t0050g0302 | 1 | 394 | 0.0025 | 0 | c.-25 others(4): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
HLA-DOB_chr6_32807763_32822002 | 32816976 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(137): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0009 | a0001c0001t0002a0001c0001t0009a0001c0005t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0014others(9): Show | 140 | 459 | 0.3050 | 0 | c.-25 others(3): Show |
HLA-DOB | ENSG00000241106.8 | transcript | ENST00000438763.7 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
HLA-DQA1_chr6_32632406_32648684 | 32637412 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | homoSapiens_chm13v2.hp1 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0025 | 1 | 86 | 0.0116 | 0 | c.-47 others(3): Show |
HLA-DQA1 | ENSG00000196735.13 | transcript | ENST00000343139.11 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
HLA-DQA2_chr6_32736391_32752198 | 32741402 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(43): Show |
a0001a0003 | a0001c0004a0001c0010a0003c0005 | a0001c0004t0010a0001c0004t0011a0001c0010t0011others(2): Show | a0001c0004t0010g0011a0001c0004t0010g0048a0001c0004t0010g0049others(9): Show | 46 | 455 | 0.1011 | 0 | c.-42 others(3): Show |
HLA-DQA2 | ENSG00000237541.4 | transcript | ENST00000374940.4 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32666617 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00423.hp1 HG00673.hp1 HG02683.hp2 others(42): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001a0003c0003t0003g0047a0003c0003t0003g0048 | 45 | 402 | 0.1119 | 0 | c.-10 others(3): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32666649 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(65): Show |
a0005a0011a0013 | a0005c0006a0005c0019a0011c0011others(1): Show | a0005c0006t0004a0005c0019t0004a0011c0011t0009others(1): Show | a0005c0006t0004g0005a0005c0006t0004g0016a0005c0006t0004g0022others(8): Show | 68 | 402 | 0.1692 | 0 | c.-42 others(3): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
HLA-DQB2_chr6_32751098_32768532 | 32763481 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(276): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0008a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(47): Show | 279 | 455 | 0.6132 | 0 | c.-11 others(3): Show |
HLA-DQB2 | ENSG00000232629.9 | transcript | ENST00000437316.7 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
HLA-DRB1_chr6_32573775_32594848 | 32589775 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 0 | c.-33 others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
HLF_chr17_55259960_55330187 | 55265106 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18953.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0067a0001c0001t0068 | a0001c0001t0067g0022a0001c0001t0068g0029 | 2 | 408 | 0.0049 | 0 | c.-37 others(4): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
HLF_chr17_55259960_55330187 | 55265221 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01358.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0321a0001c0001t0025g0323 | 2 | 408 | 0.0049 | 0 | c.-26 others(4): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 1/4 | chr17 | TogoVar |