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 | 63737493 | TACATATA others(14): Show |
T | intron_variant | MODIFIER | HG02683.hp1 HG03490.hp1 |
a0002 | a0002c0003a0002c0028 | a0002c0003t0002a0002c0028t0002 | a0002c0003t0002g0014a0002c0028t0002g0016 | 2 | 216 | 0.0093 | -21 | c.252 others(40): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28289952 | CACACACC others(14): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0023 | a0023c0035 | a0023c0035t0002 | a0023c0035t0002g0019 | 1 | 250 | 0.0040 | -21 | c.322 others(38): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 4/92 | chr15 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380353 | AATATATA others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18522.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0143a0001c0001t0001g0144a0004c0004t0001g0145 | 3 | 174 | 0.0172 | -21 | c.199 others(38): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HES7_chr17_8115592_8129106 | 8126678 | GCTCCCTT others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0008 | 1 | 446 | 0.0022 | -21 | c.-26 others(32): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 2573 | chr17 | TogoVar | ||||||
HEXB_chr5_74680233_74726288 | 74690649 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 396 | 0.0025 | -21 | c.445 others(38): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82433120 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 400 | 0.0025 | -21 | c.283 others(36): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82433122 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 400 | 0.0025 | -21 | c.283 others(36): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEY1_chr8_79759010_79772767 | 79768297 | ACGGCGGC others(14): Show |
A | upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 460 | 0.0022 | -21 | c.-65 others(30): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 531 | chr8 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79768308 | CGCGCTGG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 460 | 0.0022 | -21 | c.-66 others(30): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 542 | chr8 | TogoVar | ||||||
HGD_chr3_120623172_120687239 | 120660873 | GAAAACTT others(14): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0041 | 1 | 374 | 0.0027 | -21 | c.283 others(38): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 4/13 | chr3 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210344892 | TCATCGGA others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0014a0001c0001t0001g0076a0001c0001t0001g0082others(216): Show | 219 | 268 | 0.8172 | -21 | c.-43 others(38): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210394229 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00642.hp2 others(93): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0014a0001c0001t0001g0025a0001c0001t0001g0076others(93): Show | 96 | 268 | 0.3582 | -21 | c.274 others(38): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210428585 | CAGTTGTC others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0014a0001c0001t0001g0025a0001c0001t0001g0089others(96): Show | 99 | 268 | 0.3694 | -21 | c.856 others(40): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHIPL2_chr1_222517264_222553104 | 222552222 | TAAAAAAA others(14): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0014 | a0014c0021 | a0014c0021t0001 | a0014c0021t0001g0305 | 1 | 418 | 0.0024 | -21 | c.-41 others(32): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144684232 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 316 | 0.0032 | -21 | c.832 others(40): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HHIP_chr4_144641156_144750271 | 144716854 | GAAAAAAA others(14): Show |
G | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 316 | 0.0032 | -21 | c.167 others(40): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HID1_chr17_74945742_74977759 | 74976726 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 1 | 364 | 0.0028 | -21 | c.-40 others(32): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3968 | chr17 | TogoVar | ||||||
HIF1AN_chr10_100530943_100564998 | 100540272 | GTTTGGGG others(14): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0076 | a0001c0001t0011g0015a0001c0001t0011g0023a0001c0001t0076g0070 | 6 | 320 | 0.0188 | -21 | c.429 others(36): Show |
HIF1AN | ENSG00000166135.14 | transcript | ENST00000299163.7 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86316771 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(159): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(144): Show | 162 | 398 | 0.4070 | -21 | c.268 others(40): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIP1R_chr12_122830457_122867961 | 122838007 | CAGCACTG others(14): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(53): Show |
a0002a0013a0015others(2): Show | a0002c0002a0013c0020a0015c0019others(2): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0015others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0012a0002c0002t0001g0013others(44): Show | 56 | 348 | 0.1609 | -21 | c.93+ others(36): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HIVEP2_chr6_142746469_142950176 | 142818699 | GAAAGAAA others(14): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0040 | a0001c0001t0001a0001c0004t0001a0001c0040t0001 | a0001c0001t0001g0080a0001c0001t0001g0178a0001c0004t0001g0012others(1): Show | 4 | 288 | 0.0139 | -21 | c.-52 others(42): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544733 | TACCATCA others(14): Show |
T | intron_variant | MODIFIER | HG03453.hp2 HG06807.hp1 |
a0001a0028 | a0001c0011a0028c0035 | a0001c0011t0004a0028c0035t0019 | a0001c0011t0004g0041a0028c0035t0019g0026 | 2 | 134 | 0.0149 | -21 | c.520 others(42): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29722521 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02056.hp1 others(46): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 49 | 443 | 0.1106 | -21 | c.-94 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 912 | chr6 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29722774 | GGAAGAGG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG03492.hp1 HG03834.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0016 | 4 | 443 | 0.0090 | -21 | c.-68 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 659 | chr6 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29722780 | GGAAGAGG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 NA19030.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 2 | 443 | 0.0045 | -21 | c.-68 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 653 | chr6 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29722786 | GGAAGAAG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02886.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001a0004c0005t0001g0011 | 2 | 443 | 0.0045 | -21 | c.-67 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 647 | chr6 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36888442 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0004g0007others(4): Show | 7 | 258 | 0.0271 | -21 | c.189 others(40): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36888444 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02129.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0028a0001c0001t0002g0165others(4): Show | 7 | 258 | 0.0271 | -21 | c.189 others(40): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36888446 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00673.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0040others(35): Show | 38 | 258 | 0.1473 | -21 | c.189 others(40): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 185858586 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0046 | a0046c0042 | a0046c0042t0001 | a0046c0042t0001g0043 | 1 | 92 | 0.0109 | -21 | c.340 others(38): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130277718 | CCACCACC others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0202 | a0002c0202t0002 | a0002c0202t0002g0187 | 1 | 258 | 0.0039 | -21 | c.260 others(38): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMGA2_chr12_65819483_65971291 | 65875589 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01516.hp2 HG02040.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0022a0001c0001t0023others(1): Show | a0001c0001t0016g0119a0001c0001t0022g0109a0001c0001t0023g0108others(1): Show | 4 | 236 | 0.0170 | -21 | c.249 others(40): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HMGB3_chrX_150978335_150995771 | 150983398 | CCCGCCGC others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(154): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(35): Show | 157 | 330 | 0.4758 | -21 | c.-6+ others(32): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HMOX1_chr22_35376096_35399207 | 35389428 | CTATCTTT others(14): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 384 | 0.0026 | -21 | c.637 others(36): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HMOX2_chr16_4471398_4515347 | 4483158 | CTGGTGTG others(14): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 313 | 0.0032 | -21 | c.-42 others(38): Show |
HMOX2 | ENSG00000103415.12 | transcript | ENST00000570646.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HNF1A_chr12_120973543_121007512 | 120998825 | TTTAGTAC others(14): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0019 | a0001c0019t0011 | a0001c0019t0011g0250 | 1 | 410 | 0.0024 | -21 | c.150 others(38): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HNF4G_chr8_75534869_75571834 | 75545755 | AGATTATA others(14): Show |
A | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0138 | 1 | 394 | 0.0025 | -21 | c.287 others(38): Show |
HNF4G | ENSG00000164749.13 | transcript | ENST00000396423.4 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
HNRNPA3_chr2_177207794_177228959 | 177224945 | CTAATAAT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01346.hp1 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0035g0003 | 6 | 332 | 0.0181 | -21 | c.*55 others(32): Show |
HNRNPA3 | ENSG00000170144.22 | transcript | ENST00000392524.7 | protein_coding | 987 | chr2 | TogoVar | ||||||
HNRNPC_chr14_21204147_21274442 | 21205391 | TTTGTTAA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0331a0001c0001t0001g0345others(2): Show | 5 | 388 | 0.0129 | -21 | c.*58 others(32): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 3755 | chr14 | TogoVar | ||||||
HOMER1_chr5_79367636_79519134 | 79386943 | TTCCTTTC others(14): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0053a0001c0001t0018g0069 | 2 | 290 | 0.0069 | -21 | c.876 others(38): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
HOMER1_chr5_79367636_79519134 | 79427796 | CTTCCTTT others(14): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0195a0001c0001t0003g0058a0001c0001t0011g0059others(5): Show | 8 | 290 | 0.0276 | -21 | c.527 others(40): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
HOMER1_chr5_79367636_79519134 | 79490816 | GGTGACAC others(14): Show |
G | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 290 | 0.0035 | -21 | c.5+2 others(36): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
HOMER1_chr5_79367636_79519134 | 79491075 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0201a0001c0001t0001g0220a0001c0001t0003g0008others(48): Show | 51 | 290 | 0.1759 | -21 | c.5+2 others(36): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
HOOK1_chr1_59809949_59881322 | 59851046 | ACCACACT others(14): Show |
A | intron_variant | MODIFIER | HG03017.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0031 | a0001c0001t0020g0162a0001c0001t0031g0161 | 2 | 252 | 0.0079 | -21 | c.124 others(40): Show |
HOOK1 | ENSG00000134709.13 | transcript | ENST00000371208.5 | protein_coding | 12/21 | chr1 | TogoVar | ||||||
HORMAD2_chr22_30075464_30182075 | 30129236 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(6): Show | 9 | 350 | 0.0257 | -21 | c.819 others(38): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HOXC11_chr12_53968126_53982643 | 53973999 | GCAAGGGG others(14): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0009 | 1 | 396 | 0.0025 | -21 | c.682 others(34): Show |
HOXC11 | ENSG00000123388.4 | transcript | ENST00000546378.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HPCA_chr1_32881491_32899646 | 32893705 | TCCGCCTC others(14): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0041 | 1 | 388 | 0.0026 | -21 | c.485 others(34): Show |
HPCA | ENSG00000121905.10 | transcript | ENST00000373467.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HPD_chr12_121834527_121863859 | 121835007 | CTTTCTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0132 | 2 | 406 | 0.0049 | -21 | c.*47 others(32): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 4519 | chr12 | TogoVar | ||||||
HPD_chr12_121834527_121863859 | 121840722 | GGCAGCTT others(14): Show |
G | intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0059 | 1 | 406 | 0.0025 | -21 | c.955 others(36): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 12/13 | chr12 | TogoVar | ||||||
HPS4_chr22_26445882_26488783 | 26483980 | GGAGGCGG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0010others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(70): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0038others(234): Show | 335 | 404 | 0.8292 | -21 | c.-80 others(30): Show |
HPS4 | ENSG00000100099.22 | transcript | ENST00000398145.7 | protein_coding | 198 | chr22 | TogoVar |