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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HSD3B2_chr1_119410150_119428034 | 119414329 | T | TCTACTTA others(6): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(89): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0014others(16): Show | 92 | 442 | 0.2081 | 13 | c.-96 others(22): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 820 | chr1 | TogoVar | ||||||
HSDL1_chr16_84117141_84150177 | 84146047 | A | AGATCTCG others(6): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 448 | 0.0022 | 13 | c.-10 others(24): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 871 | chr16 | TogoVar | ||||||
HSDL1_chr16_84117141_84150177 | 84148596 | C | CTCTCTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0195 | 1 | 448 | 0.0022 | 13 | c.-35 others(24): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 3420 | chr16 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313631 | G | GCCGCCCC others(6): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0032a0001c0001t0009g0025 | 2 | 330 | 0.0061 | 13 | c.124 others(28): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HSF1_chr8_144286604_144319720 | 144313665 | G | GCCTCCCC others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02257.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0005a0005c0007t0001 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0054others(5): Show | 8 | 330 | 0.0242 | 13 | c.124 others(28): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HSF1_chr8_144286604_144319720 | 144313691 | C | CCCGCCTC others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0144 | 2 | 330 | 0.0061 | 13 | c.124 others(28): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HSF1_chr8_144286604_144319720 | 144313691 | C | CCCGCCTC others(6): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 330 | 0.0030 | 13 | c.124 others(28): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HSF1_chr8_144286604_144319720 | 144313707 | G | GCCTCCCC others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 330 | 0.0030 | 13 | c.124 others(28): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HSF1_chr8_144286604_144319720 | 144313788 | G | GCGCCGCC others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0138 | 2 | 330 | 0.0061 | 13 | c.124 others(28): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HSP90B1_chr12_103925410_103952926 | 103948040 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02165.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0046others(14): Show | 22 | 458 | 0.0480 | 13 | c.*37 others(22): Show |
HSP90B1 | ENSG00000166598.16 | transcript | ENST00000299767.10 | protein_coding | 115 | chr12 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116668971 | A | ACACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0074 | 2 | 320 | 0.0063 | 13 | c.*58 others(24): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 2220 | chr10 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116696002 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0011 | a0001c0011t0023 | a0001c0011t0023g0006 | 1 | 320 | 0.0031 | 13 | c.546 others(30): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 5/11 | chr10 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116732639 | A | ATTGCAGA others(6): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 320 | 0.0031 | 13 | c.40+ others(28): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116743080 | C | CCGCAGAC others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(191): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(188): Show | 194 | 320 | 0.6063 | 13 | c.-62 others(22): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 515 | chr10 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133085489 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18945.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0095a0001c0001t0003g0103a0001c0001t0020g0144 | 3 | 364 | 0.0082 | 13 | c.909 others(30): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSPA4_chr5_133047013_133111449 | 133092806 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0051 | a0001c0001t0025g0004a0001c0001t0051g0004 | 2 | 364 | 0.0055 | 13 | c.165 others(28): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSPA8_chr11_123052489_123067136 | 123065065 | C | CTGTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 NA19076.hp2 NA19083.hp2 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0002a0001c0002t0009a0002c0008t0002 | a0001c0002t0002g0003a0001c0002t0009g0085a0002c0008t0002g0067 | 3 | 424 | 0.0071 | 13 | c.-30 others(24): Show |
HSPA8 | ENSG00000109971.14 | transcript | ENST00000534624.6 | protein_coding | 2930 | chr11 | TogoVar | ||||||
HSPB1_chr7_76297673_76309292 | 76305484 | A | ATCCATCC others(6): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 13 | c.*13 others(24): Show |
HSPB1 | ENSG00000106211.10 | transcript | ENST00000248553.7 | protein_coding | 1193 | chr7 | TogoVar | ||||||
HSPBAP1_chr3_122734999_122798831 | 122779512 | A | ATTTATTT others(6): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 350 | 0.0029 | 13 | c.65- others(28): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
HSPBP1_chr19_55257223_55285110 | 55271033 | A | ACACCACA others(6): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18961.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0120 | 3 | 314 | 0.0096 | 13 | c.640 others(30): Show |
HSPBP1 | ENSG00000133265.11 | transcript | ENST00000433386.7 | protein_coding | 4/7 | chr19 | TogoVar | ||||||
HSPD1_chr2_197481584_197504840 | 197484685 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0045 | 2 | 396 | 0.0051 | 13 | c.*23 others(24): Show |
HSPD1 | ENSG00000144381.18 | transcript | ENST00000388968.8 | protein_coding | 1898 | chr2 | TogoVar | ||||||
HSPG2_chr1_21817244_21942310 | 21863060 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp2 others(9): Show |
a0001a0004a0007others(6): Show | a0001c0006a0004c0057a0004c0105others(7): Show | a0001c0006t0001a0004c0057t0002a0004c0105t0002others(7): Show | a0001c0006t0001g0059a0004c0057t0002g0080a0004c0105t0002g0088others(9): Show | 12 | 310 | 0.0387 | 13 | c.474 others(30): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 37/96 | chr1 | TogoVar | ||||||
HSPG2_chr1_21817244_21942310 | 21863060 | C | CAAAAACA others(6): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0028 | 1 | 310 | 0.0032 | 13 | c.474 others(30): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 37/96 | chr1 | TogoVar | ||||||
HSPH1_chr13_31129973_31166904 | 31166224 | G | GTGTGTGT others(6): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 396 | 0.0025 | 13 | c.-46 others(24): Show |
HSPH1 | ENSG00000120694.20 | transcript | ENST00000320027.10 | protein_coding | 4321 | chr13 | TogoVar | ||||||
HTATIP2_chr11_20358714_20388782 | 20362400 | T | TTTGTACC others(6): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0210a0002c0002t0012g0211 | 2 | 420 | 0.0048 | 13 | c.-18 others(24): Show |
HTATIP2 | ENSG00000109854.14 | transcript | ENST00000451739.7 | protein_coding | 1313 | chr11 | TogoVar | ||||||
HTR1F_chr3_87787706_87998839 | 87796210 | G | GACAAGTT others(6): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 250 | 0.0040 | 13 | c.-16 others(32): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114734564 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 176 | 0.0057 | 13 | c.349 others(30): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114741524 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0024a0001c0001t0017g0112 | 2 | 176 | 0.0114 | 13 | c.349 others(30): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114805860 | A | ATATACAC others(6): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0032 | 1 | 176 | 0.0057 | 13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114807029 | C | CATATACA others(6): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0165a0001c0001t0002g0016 | 2 | 176 | 0.0114 | 13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114807069 | A | ACCATATA others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 176 | 0.0057 | 13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114807155 | A | ATATATAC others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152 | 1 | 176 | 0.0057 | 13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114807165 | C | CATGTATG others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 NA18970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005a0002c0002t0012 | a0001c0001t0001g0090a0002c0002t0005g0055a0002c0002t0012g0003 | 3 | 176 | 0.0171 | 13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | chrX | TogoVar | ||||||
HTR3C_chr3_184048047_184065673 | 184065521 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 442 | 0.0023 | 13 | c.*51 others(24): Show |
HTR3C | ENSG00000178084.2 | transcript | ENST00000318351.2 | protein_coding | 4849 | chr3 | TogoVar | ||||||
HTR3D_chr3_184026742_184044369 | 184039048 | A | ATGTCAGT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(375): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0005a0001c0009others(21): Show | a0001c0002t0002a0001c0002t0003a0001c0005t0001others(23): Show | a0001c0002t0002g0027a0001c0002t0002g0088a0001c0002t0002g0101others(105): Show | 378 | 450 | 0.8400 | 13 | c.*73 others(20): Show |
HTR3D | ENSG00000186090.11 | transcript | ENST00000428798.7 | protein_coding | 8/8 | 74 | chr3 | TogoVar | |||||
HTR4_chr5_148476547_148659527 | 148511619 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02698.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0047a0001c0001t0005g0138 | 2 | 310 | 0.0065 | 13 | c.508 others(30): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
HTR4_chr5_148476547_148659527 | 148547562 | A | AAAATAAA others(6): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0282 | 1 | 310 | 0.0032 | 13 | c.353 others(30): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 4/6 | chr5 | TogoVar | ||||||
HTR4_chr5_148476547_148659527 | 148576110 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187a0001c0001t0001g0211 | 2 | 310 | 0.0065 | 13 | c.27- others(30): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
HTR4_chr5_148476547_148659527 | 148576128 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0153 | 1 | 310 | 0.0032 | 13 | c.27- others(30): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122496225 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02165.hp1 HG02257.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0003c0006t0001 | a0001c0001t0001g0028a0001c0001t0001g0149a0001c0002t0001g0164others(1): Show | 4 | 362 | 0.0111 | 13 | c.777 others(30): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3088036 | G | GATGGGGC others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02258.hp1 others(4): Show |
a0020a0023a0070others(3): Show | a0020c0052a0023c0039a0070c0092others(3): Show | a0020c0052t0003a0023c0039t0015a0023c0039t0016others(4): Show | a0020c0052t0003g0292a0023c0039t0015g0004a0023c0039t0016g0008others(4): Show | 7 | 294 | 0.0238 | 13 | c.347 others(30): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 2/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3093905 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 |
a0014a0043 | a0014c0014a0043c0050 | a0014c0014t0010a0043c0050t0010 | a0014c0014t0010g0011a0043c0050t0010g0012 | 2 | 294 | 0.0068 | 13 | c.348 others(30): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 2/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3210904 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18948.hp2 |
a0005a0075 | a0005c0004a0075c0094 | a0005c0004t0002a0075c0094t0003 | a0005c0004t0002g0242a0075c0094t0003g0064 | 2 | 294 | 0.0068 | 13 | c.641 others(30): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 47/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HUNK_chr21_31868020_32009064 | 31900479 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18990.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0127a0002c0003t0003g0177 | 2 | 328 | 0.0061 | 13 | c.262 others(32): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | chr21 | TogoVar | ||||||
HUNK_chr21_31868020_32009064 | 31917757 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 328 | 0.0031 | 13 | c.262 others(30): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | chr21 | TogoVar | ||||||
HYAL1_chr3_50294893_50308574 | 50304296 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03017.hp2 NA18964.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0004g0012a0002c0002t0001g0004 | 3 | 384 | 0.0078 | 13 | c.-85 others(22): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 723 | chr3 | TogoVar | ||||||
HYAL1_chr3_50294893_50308574 | 50304296 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 384 | 0.0026 | 13 | c.-85 others(22): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 723 | chr3 | TogoVar | ||||||
HYAL1_chr3_50294893_50308574 | 50304296 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0013 | 2 | 384 | 0.0052 | 13 | c.-85 others(22): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 723 | chr3 | TogoVar | ||||||
HYAL1_chr3_50294893_50308574 | 50304296 | A | AAAAATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 384 | 0.0052 | 13 | c.-85 others(22): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 723 | chr3 | TogoVar | ||||||
HYAL3_chr3_50287832_50304405 | 50304296 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03017.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 378 | 0.0079 | 13 | c.-51 others(24): Show |
HYAL3 | ENSG00000186792.17 | transcript | ENST00000336307.6 | protein_coding | 4892 | chr3 | TogoVar |