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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HERC1_chr15_63603618_63838948 | 63826800 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03492.hp2 |
a0001a0011 | a0001c0001a0011c0024 | a0001c0001t0001a0011c0024t0001 | a0001c0001t0001g0168a0011c0024t0001g0124 | 2 | 216 | 0.0093 | 9 | c.-27 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826802 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 NA18954.hp1 homoSapiens_chm13v2.hp1 |
a0001a0006 | a0001c0008a0006c0016 | a0001c0008t0001a0006c0016t0001 | a0001c0008t0001g0143a0006c0016t0001g0123a0006c0016t0001g0171 | 3 | 216 | 0.0139 | 9 | c.-27 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826804 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02698.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0163a0001c0013t0001g0154 | 2 | 216 | 0.0093 | 9 | c.-27 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826808 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0194a0001c0001t0004g0136 | 2 | 216 | 0.0093 | 9 | c.-27 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28230292 | G | GTACAGAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02723.hp1 others(4): Show |
a0003a0030 | a0003c0004a0030c0062 | a0003c0004t0002a0030c0062t0002 | a0003c0004t0002g0009a0003c0004t0002g0010a0003c0004t0002g0011others(4): Show | 7 | 250 | 0.0280 | 9 | c.480 others(24): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 31/92 | chr15 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88699191 | C | CACCCACC others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0004t0003others(1): Show | a0001c0001t0003g0011a0001c0001t0003g0012a0001c0001t0003g0013others(5): Show | 8 | 296 | 0.0270 | 9 | c.265 others(28): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | chr4 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88699215 | C | CACCCACC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0005a0001c0004t0005a0001c0005t0005 | a0001c0001t0005g0219a0001c0001t0005g0233a0001c0004t0005g0263others(2): Show | 5 | 296 | 0.0169 | 9 | c.265 others(28): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | chr4 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059525 | A | ATTATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01099.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0174a0001c0001t0001g0178others(7): Show | 10 | 360 | 0.0278 | 9 | c.226 others(28): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059721 | T | TAATATTA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0077a0001c0001t0001g0083a0001c0001t0001g0086others(46): Show | 49 | 360 | 0.1361 | 9 | c.226 others(28): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059721 | T | TTATATTA others(2): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02257.hp2 HG02258.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0343a0001c0003t0003g0344a0001c0003t0003g0345 | 3 | 360 | 0.0083 | 9 | c.226 others(28): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059847 | T | TATCATAA others(2): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02615.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0316a0001c0001t0001g0318 | 3 | 360 | 0.0083 | 9 | c.226 others(28): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERPUD1_chr16_56927142_56949864 | 56934702 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG01257.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0008a0002c0002t0001others(1): Show | a0001c0001t0001g0053a0001c0001t0008g0019a0001c0001t0008g0056others(4): Show | 20 | 428 | 0.0467 | 9 | c.148 others(24): Show |
HERPUD1 | ENSG00000051108.15 | transcript | ENST00000439977.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HEXIM2_chr17_45156875_45175035 | 45174848 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(18): Show | 57 | 446 | 0.1278 | 9 | c.*50 others(20): Show |
HEXIM2 | ENSG00000168517.11 | transcript | ENST00000589230.6 | protein_coding | 4814 | chr17 | TogoVar | ||||||
HGF_chr7_81694010_81775047 | 81755406 | A | AAGGGATT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0001g0031others(1): Show | 4 | 272 | 0.0147 | 9 | c.482 others(26): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 4/17 | chr7 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02647.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0004g0210a0001c0001t0005g0208a0001c0001t0006g0211others(3): Show | 6 | 268 | 0.0224 | 9 | c.-44 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210340242 | G | GGGGAAAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03195.hp1 HG03516.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0010 | a0001c0001t0001a0001c0001t0003a0001c0002t0012others(1): Show | a0001c0001t0001g0130a0001c0001t0003g0083a0001c0002t0012g0123others(1): Show | 4 | 268 | 0.0149 | 9 | c.-43 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210385188 | C | CATGAATT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0082a0001c0001t0001g0130a0001c0001t0002g0162others(19): Show | 22 | 268 | 0.0821 | 9 | c.160 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210397457 | G | GTATGTCT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02109.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0005a0004c0012 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0072a0001c0001t0002g0075a0001c0001t0002g0078others(8): Show | 11 | 268 | 0.0410 | 9 | c.274 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210605012 | T | TCAACAAC others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02818.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0076a0001c0001t0001g0194a0001c0001t0003g0206others(10): Show | 13 | 268 | 0.0485 | 9 | c.124 others(30): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210606481 | A | AGGTATCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0025a0001c0001t0001g0082a0001c0001t0001g0090others(70): Show | 73 | 268 | 0.2724 | 9 | c.124 others(30): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHLA2_chr3_108291548_108383285 | 108340908 | T | TTTTCCTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01243.hp2 others(66): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0094a0001c0001t0002g0003a0001c0001t0002g0005others(62): Show | 69 | 322 | 0.2143 | 9 | c.-26 others(28): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HIBADH_chr7_27520442_27667883 | 27527917 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG01358.hp2 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0025a0001c0001t0001g0042others(29): Show | 32 | 326 | 0.0982 | 9 | c.853 others(26): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27543858 | A | ATGATTGG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00735.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0139others(27): Show | 30 | 326 | 0.0920 | 9 | c.485 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27645368 | A | ATGTTTTT others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02897.hp2 HG03209.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0026a0001c0001t0001g0046a0001c0001t0001g0075others(5): Show | 8 | 326 | 0.0245 | 9 | c.252 others(26): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
HIC2_chr22_21412371_21456463 | 21425165 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG01433.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0027a0001c0001t0002g0040a0001c0001t0002g0043others(14): Show | 17 | 288 | 0.0590 | 9 | c.-74 others(26): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HIF1A_chr14_61690513_61753258 | 61746389 | C | CTACTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 HG01891.hp2 others(19): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0102others(19): Show | 22 | 322 | 0.0683 | 9 | c.233 others(26): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HIGD1A_chr3_42777908_42809490 | 42787594 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18949.hp1 NA18950.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034a0001c0001t0002g0089a0001c0001t0002g0105others(3): Show | 7 | 400 | 0.0175 | 9 | c.98- others(24): Show |
HIGD1A | ENSG00000181061.14 | transcript | ENST00000321331.12 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02273.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0355others(5): Show | 8 | 398 | 0.0201 | 9 | c.268 others(28): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIKESHI_chr11_86297240_86350943 | 86319242 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01358.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0139others(2): Show | 8 | 398 | 0.0201 | 9 | c.268 others(28): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HILPDA_chr7_128450878_128463418 | 128452737 | A | AAAGAAAG others(2): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01123.hp2 HG01346.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 6 | 424 | 0.0142 | 9 | c.-33 others(20): Show |
HILPDA | ENSG00000135245.10 | transcript | ENST00000257696.5 | protein_coding | 3140 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75616085 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0079a0001c0001t0001g0081a0001c0001t0001g0095others(30): Show | 33 | 254 | 0.1299 | 9 | c.121 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75616584 | G | GGGAGGAG others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | 254 | 0.0433 | 9 | c.121 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75670786 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01361.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0023a0001c0001t0001g0054a0001c0001t0001g0061others(12): Show | 15 | 254 | 0.0591 | 9 | c.120 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75673820 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG01167.hp1 others(14): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0051a0001c0001t0001g0071a0001c0001t0001g0083others(14): Show | 17 | 254 | 0.0669 | 9 | c.120 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75674500 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(72): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0038others(72): Show | 75 | 254 | 0.2953 | 9 | c.120 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75674501 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01099.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0119a0001c0001t0001g0146a0001c0001t0001g0147others(20): Show | 23 | 254 | 0.0906 | 9 | c.120 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75717676 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(95): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(95): Show | 98 | 254 | 0.3858 | 9 | c.120 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIPK1_chr1_113924324_113982869 | 113926117 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0002t0003g0281a0001c0003t0002g0028a0001c0003t0002g0303others(3): Show | 7 | 382 | 0.0183 | 9 | c.-34 others(20): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 3206 | chr1 | TogoVar | ||||||
HIPK1_chr1_113924324_113982869 | 113938927 | A | ATATACAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp2 others(72): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(61): Show | 75 | 382 | 0.1963 | 9 | c.-2- others(24): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
HIPK2_chr7_139556570_139782998 | 139634674 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01515.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0006a0001c0003t0054a0001c0003t0108others(4): Show | a0001c0003t0006g0128a0001c0003t0054g0102a0001c0003t0108g0046others(4): Show | 7 | 154 | 0.0455 | 9 | c.110 others(28): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
HIPK3_chr11_33252381_33362023 | 33302339 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(90): Show | 93 | 342 | 0.2719 | 9 | c.109 others(30): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIPK3_chr11_33252381_33362023 | 33310262 | G | GTCTATCT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0021others(1): Show | a0001c0001t0003g0034a0001c0001t0003g0036a0001c0001t0003g0037others(22): Show | 25 | 342 | 0.0731 | 9 | c.109 others(30): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIPK3_chr11_33252381_33362023 | 33310266 | G | GTCTATCT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01981.hp1 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0134a0001c0001t0001g0158a0001c0001t0001g0160others(5): Show | 8 | 342 | 0.0234 | 9 | c.109 others(30): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIPK3_chr11_33252381_33362023 | 33310270 | G | GTCTATCT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0106a0001c0001t0001g0128a0001c0001t0001g0270others(6): Show | 9 | 342 | 0.0263 | 9 | c.109 others(30): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIRA_chr22_19325698_19436733 | 19390601 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG01099.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0198a0001c0001t0001g0199a0001c0001t0001g0201others(21): Show | 24 | 364 | 0.0659 | 9 | c.936 others(26): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 9/24 | chr22 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12103184 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01361.hp1 HG01433.hp1 others(27): Show |
a0001a0009a0036others(1): Show | a0001c0001a0001c0006a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0030a0001c0001t0001g0051others(27): Show | 30 | 344 | 0.0872 | 9 | c.94+ others(26): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HIVEP1_chr6_12007312_12169999 | 12168033 | T | TACATATG others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG02056.hp1 others(14): Show |
a0001a0002a0025others(2): Show | a0001c0005a0002c0002a0025c0029others(2): Show | a0001c0005t0001a0002c0002t0001a0025c0029t0001others(2): Show | a0001c0005t0001g0158a0001c0005t0001g0252a0001c0005t0001g0285others(14): Show | 17 | 344 | 0.0494 | 9 | c.*35 others(20): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3035 | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12168225 | T | TACATAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02572.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0036a0004c0004t0001g0165a0004c0004t0001g0243others(3): Show | 6 | 344 | 0.0174 | 9 | c.*37 others(20): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3227 | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12168261 | T | TATTATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02572.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0036a0004c0004t0001g0165a0004c0004t0001g0243others(3): Show | 6 | 344 | 0.0174 | 9 | c.*38 others(20): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3263 | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12168384 | G | GTATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00735.hp1 others(89): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0013a0001c0048others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0022others(89): Show | 92 | 344 | 0.2674 | 9 | c.*39 others(20): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3386 | chr6 | TogoVar |