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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAGH_chr16_1802629_1831825 | 1823744 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03017.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0090a0001c0001t0005g0268a0001c0001t0005g0288 | 3 | 436 | 0.0069 | -11 | c.77- others(24): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
HAMP_chr19_35277528_35290143 | 35285665 | ACTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp2 HG02055.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 448 | 0.0067 | -11 | c.*62 others(20): Show |
HAMP | ENSG00000105697.9 | transcript | ENST00000222304.5 | protein_coding | 523 | chr19 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7916174 | TAGTAAAA others(4): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 348 | 0.0029 | -11 | c.290 others(28): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7930389 | GTTTTTAT others(4): Show |
G | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 348 | 0.0029 | -11 | c.289 others(28): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41729549 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(191): Show |
a0001a0003a0007others(14): Show | a0001c0001a0001c0041a0001c0042others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0012others(177): Show | 194 | 374 | 0.5187 | -11 | c.107 others(30): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
HAPLN1_chr5_83632805_83725855 | 83656327 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0295 | 1 | 372 | 0.0027 | -11 | c.101 others(28): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
HAPSTR2_chrX_140086678_140097911 | 140094972 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 312 | 0.0032 | -11 | c.*24 others(22): Show |
HAPSTR2 | ENSG00000230707.3 | transcript | ENST00000453380.3 | protein_coding | 2062 | chrX | TogoVar | ||||||
HARBI1_chr11_46597861_46622227 | 46616831 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03669.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0052others(1): Show | 4 | 258 | 0.0155 | -11 | c.-14 others(28): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
HARBI1_chr11_46597861_46622227 | 46619372 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0150 | 1 | 258 | 0.0039 | -11 | c.-24 others(22): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 2146 | chr11 | TogoVar | ||||||
HARBI1_chr11_46597861_46622227 | 46622117 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 258 | 0.0039 | -11 | c.-51 others(22): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 4891 | chr11 | TogoVar | ||||||
HAS2_chr8_121607116_121646440 | 121625097 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019 | a0001c0001t0006g0051a0001c0001t0006g0052a0001c0001t0019g0044others(2): Show | 5 | 376 | 0.0133 | -11 | c.627 others(28): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
HAS2_chr8_121607116_121646440 | 121633901 | TGTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG01891.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0040a0001c0002t0077others(1): Show | a0001c0002t0023g0014a0001c0002t0040g0201a0001c0002t0040g0202others(2): Show | 7 | 376 | 0.0186 | -11 | c.1-4 others(24): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
HAS3_chr16_69100653_69122660 | 69104992 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp1 NA19011.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0016a0001c0002t0002g0033 | 2 | 410 | 0.0049 | -11 | c.-79 others(20): Show |
HAS3 | ENSG00000103044.11 | transcript | ENST00000569188.6 | protein_coding | 660 | chr16 | TogoVar | ||||||
HASPIN_chr17_3718903_3731699 | 3721260 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0000 | 1 | 414 | 0.0024 | -11 | c.-26 others(22): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 2642 | chr17 | TogoVar | ||||||
HASPIN_chr17_3718903_3731699 | 3731335 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0002others(5): Show | a0001c0001t0001g0000a0001c0001t0008g0000a0002c0002t0002g0000others(5): Show | 76 | 414 | 0.1836 | -11 | c.*50 others(22): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 4637 | chr17 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171953626 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0263 | 2 | 326 | 0.0061 | -11 | c.309 others(26): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HAT1_chr2_171917461_171988686 | 171970496 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0261a0001c0001t0001g0262others(39): Show | 42 | 326 | 0.1288 | -11 | c.823 others(28): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HAT1_chr2_171917461_171988686 | 171977542 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | NA18964.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0195 | 2 | 326 | 0.0061 | -11 | c.975 others(28): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977544 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 326 | 0.0031 | -11 | c.975 others(28): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
HAUS1_chr18_46099385_46133333 | 46109137 | TCAGGAAA others(4): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0120 | 1 | 372 | 0.0027 | -11 | c.205 others(28): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HAUS1_chr18_46099385_46133333 | 46112913 | ATATATAA others(4): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02970.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0068 | 3 | 372 | 0.0081 | -11 | c.206 others(28): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HAUS1_chr18_46099385_46133333 | 46112951 | ATATATAA others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0052a0001c0001t0001g0283 | 4 | 372 | 0.0108 | -11 | c.206 others(28): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HAUS1_chr18_46099385_46133333 | 46132028 | TATAGTCC others(4): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 372 | 0.0027 | -11 | c.*39 others(22): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 3696 | chr18 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42574020 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0018a0001c0001t0001g0090a0001c0001t0001g0105others(14): Show | 18 | 350 | 0.0514 | -11 | c.*72 others(22): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 4027 | chr15 | TogoVar | ||||||
HAUS6_chr9_19048141_19107904 | 19103705 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01074.hp2 |
a0004 | a0004c0008 | a0004c0008t0006 | a0004c0008t0006g0362a0004c0008t0006g0366 | 2 | 406 | 0.0049 | -11 | c.-10 others(22): Show |
HAUS6 | ENSG00000147874.11 | transcript | ENST00000380502.8 | protein_coding | 802 | chr9 | TogoVar | ||||||
HAUS7_chrX_153442668_153475576 | 153461135 | TGCTCCTT others(4): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02630.hp1 others(15): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0025a0001c0002t0001g0032a0001c0002t0001g0052others(12): Show | 18 | 321 | 0.0561 | -11 | c.354 others(28): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 4/9 | chrX | TogoVar | ||||||
HAUS7_chrX_153442668_153475576 | 153475337 | CTTGTCCC others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 321 | 0.0031 | -11 | c.-47 others(22): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 4762 | chrX | TogoVar | ||||||
HAUS7_chrX_153442668_153475576 | 153475375 | TTTTCTTC others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 321 | 0.0031 | -11 | c.-48 others(22): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 4800 | chrX | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055138 | AAAAAAAT others(4): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0164a0002c0001t0001g0166 | 2 | 400 | 0.0050 | -11 | c.787 others(26): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055142 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02129.hp2 HG03471.hp1 others(3): Show |
a0001a0005 | a0001c0002a0005c0008 | a0001c0002t0001a0005c0008t0002 | a0001c0002t0001g0043a0001c0002t0001g0060a0001c0002t0001g0065others(3): Show | 6 | 400 | 0.0150 | -11 | c.787 others(26): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055144 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01934.hp2 HG01952.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0002 | a0001c0002t0001g0062a0001c0002t0001g0104a0003c0005t0002g0346others(2): Show | 5 | 400 | 0.0125 | -11 | c.787 others(26): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157044410 | AAGGAAGG others(4): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 352 | 0.0028 | -11 | c.782 others(28): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157057386 | GGAAAGAA others(4): Show |
G | intron_variant | MODIFIER | HG01943.hp2 HG02015.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0002 | a0002c0002t0001g0082a0004c0004t0002g0010 | 2 | 352 | 0.0057 | -11 | c.46+ others(24): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 2/8 | chr5 | TogoVar | ||||||
HAVCR2_chr5_157080832_157114044 | 157092878 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 380 | 0.0026 | -11 | c.676 others(28): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
HAX1_chr1_154267629_154280875 | 154271906 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -11 | c.-81 others(20): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 722 | chr1 | TogoVar | ||||||
HAX1_chr1_154267629_154280875 | 154277330 | ATATTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02027.hp1 HG02056.hp2 HG02083.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0002a0001c0001t0002g0009a0002c0003t0002g0002others(1): Show | 14 | 392 | 0.0357 | -11 | c.*16 others(22): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1456 | chr1 | TogoVar | ||||||
HAX1_chr1_154267629_154280875 | 154277332 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp2 NA18971.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 392 | 0.0077 | -11 | c.*16 others(22): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1458 | chr1 | TogoVar | ||||||
HBB_chr11_5220464_5232071 | 5222408 | TGCAATTG others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 488 | 0.0021 | -11 | c.*31 others(22): Show |
HBB | ENSG00000244734.4 | transcript | ENST00000335295.4 | protein_coding | 3055 | chr11 | TogoVar | ||||||
HBG2_chr11_5248188_5259781 | 5255905 | TTTTTTTC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01943.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0020 | 6 | 430 | 0.0140 | -11 | c.-11 others(22): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 1125 | chr11 | TogoVar | ||||||
HBM_chr16_160978_171764 | 164927 | GGGTCGCG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG04199.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 5 | 370 | 0.0135 | -11 | c.-10 others(22): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1050 | chr16 | TogoVar | ||||||
HBM_chr16_160978_171764 | 164944 | GCGGGGCG others(4): Show |
G | upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -11 | c.-10 others(22): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1033 | chr16 | TogoVar | ||||||
HBP1_chr7_107164003_107207522 | 107183057 | TCTTAAAC others(4): Show |
T | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 368 | 0.0027 | -11 | c.398 others(26): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 3/10 | chr7 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186168 | GGGGGAAC others(4): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 384 | 0.0052 | -11 | c.*50 others(22): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4990 | chr16 | TogoVar | ||||||
HBS1L_chr6_134955378_135059822 | 135023542 | TTTAACAG others(4): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0016others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(54): Show | 68 | 348 | 0.1954 | -11 | c.430 others(30): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar | ||||||
HBS1L_chr6_134955378_135059822 | 135035750 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 348 | 0.0029 | -11 | c.430 others(28): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar | ||||||
HBS1L_chr6_134955378_135059822 | 135040344 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03516.hp1 NA18941.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0050a0001c0002t0003 | a0001c0001t0050g0186a0001c0002t0003g0320 | 2 | 348 | 0.0058 | -11 | c.236 others(26): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 3/17 | chr6 | TogoVar | ||||||
HCAR2_chr12_122696293_122708357 | 122698060 | CTTTTTTC others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 428 | 0.0023 | -11 | c.*41 others(22): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 3232 | chr12 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG03486.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211a0001c0001t0001g0252 | 2 | 290 | 0.0069 | -11 | c.62+ others(26): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HCN1_chr5_45249948_45701380 | 45404693 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0115 | 1 | 226 | 0.0044 | -11 | c.101 others(30): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 3/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45534404 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02145.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0105a0001c0001t0002g0106a0001c0001t0003g0110others(1): Show | 4 | 226 | 0.0177 | -11 | c.850 others(30): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar |