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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H2AC21_chr1_149882469_149892965 | 149892486 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG03540.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 362 | 0.0083 | 9 | c.-45 others(20): Show |
H2AC21 | ENSG00000184270.6 | transcript | ENST00000331128.6 | protein_coding | 4522 | chr1 | TogoVar | ||||||
H2AC4_chr6_26028092_26038618 | 26031178 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 NA18940.hp1 NA18947.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 9 | 406 | 0.0222 | 9 | c.*19 others(20): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1913 | chr6 | TogoVar | ||||||
H2BC5_chr6_26153122_26163607 | 26153752 | C | CTATTATT others(2): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02040.hp1 HG02129.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000a0001c0002t0001g0000 | 29 | 380 | 0.0763 | 9 | c.-44 others(20): Show |
H2BC5 | ENSG00000158373.9 | transcript | ENST00000377777.6 | protein_coding | 4369 | chr6 | TogoVar | ||||||
H3-3B_chr17_75771434_75784779 | 75782993 | T | TTAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005a0001c0001t0005g0027 | 4 | 432 | 0.0093 | 9 | c.-33 others(20): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 3215 | chr17 | TogoVar | ||||||
H3C2_chr6_26026589_26037099 | 26031178 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 NA18940.hp1 NA18947.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 396 | 0.0227 | 9 | c.*47 others(18): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 410 | chr6 | TogoVar | ||||||
H4C14_chr1_149827657_149838052 | 149827857 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 38 | 236 | 0.1610 | 9 | c.-48 others(20): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4799 | chr1 | TogoVar | ||||||
H4C2_chr6_26021896_26032283 | 26031178 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 NA18940.hp2 NA18947.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 10 | 400 | 0.0250 | 9 | c.-39 others(20): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3896 | chr6 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42765676 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01175.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(2): Show | a0001c0001t0001g0204a0001c0001t0001g0222a0001c0001t0009g0182others(20): Show | 23 | 410 | 0.0561 | 9 | c.*17 others(20): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1412 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42765685 | A | AAAACAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0223a0001c0001t0001g0228a0001c0001t0001g0231others(4): Show | 7 | 410 | 0.0171 | 9 | c.*17 others(20): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1403 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42766818 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 HG02074.hp1 HG02895.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0264a0001c0001t0001g0280a0001c0001t0001g0282others(12): Show | 16 | 410 | 0.0390 | 9 | c.*61 others(18): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 270 | chr2 | TogoVar | ||||||
HAAO_chr2_42762089_42797583 | 42791923 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00673.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0199others(30): Show | 33 | 410 | 0.0805 | 9 | c.80+ others(22): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96475390 | C | CAACAAAA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006a0001c0003t0003g0035a0001c0003t0003g0036others(6): Show | 10 | 306 | 0.0327 | 9 | c.827 others(26): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HACE1_chr6_104723094_104864919 | 104790900 | A | AATTTAAC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01081.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(1): Show | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0002t0001g0083others(50): Show | 53 | 346 | 0.1532 | 9 | c.107 others(26): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 11/23 | chr6 | TogoVar | ||||||
HACL1_chr3_15555699_15606569 | 15592072 | A | ATACACAC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(96): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0013others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0013t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(91): Show | 99 | 428 | 0.2313 | 9 | c.228 others(24): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26265597 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp1 others(45): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0005a0001c0003t0001g0008a0001c0003t0001g0009others(40): Show | 48 | 290 | 0.1655 | 9 | c.209 others(26): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG02055.hp2 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0034a0001c0003t0001g0036a0001c0003t0001g0040others(9): Show | 12 | 290 | 0.0414 | 9 | c.138 others(26): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HAO1_chr20_7877985_7945458 | 7924194 | G | GTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0061a0001c0001t0001g0133a0001c0001t0001g0136others(42): Show | 46 | 348 | 0.1322 | 9 | c.290 others(26): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7924194 | G | GTGTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00673.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(50): Show | 55 | 348 | 0.1581 | 9 | c.290 others(26): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 2/7 | chr20 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41729549 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01069.hp2 others(30): Show |
a0002a0007a0010others(5): Show | a0002c0002a0007c0008a0010c0010others(5): Show | a0002c0002t0001a0002c0002t0017a0002c0002t0019others(7): Show | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0022others(28): Show | 33 | 374 | 0.0882 | 9 | c.107 others(28): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41730054 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(53): Show |
a0002a0007a0015others(2): Show | a0002c0002a0007c0008a0015c0014others(2): Show | a0002c0002t0001a0002c0002t0017a0002c0002t0020others(5): Show | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0021others(51): Show | 56 | 374 | 0.1497 | 9 | c.106 others(28): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
HAPLN3_chr15_88872294_88900544 | 88890011 | A | AGGGAGGA others(2): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18980.hp2 NA19005.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0011 | 5 | 436 | 0.0115 | 9 | c.-47 others(26): Show |
HAPLN3 | ENSG00000140511.12 | transcript | ENST00000359595.8 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
HAPSTR1_chr16_9086644_9126635 | 9091265 | G | GGGTGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(45): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(14): Show | a0001c0001t0004g0049a0001c0001t0004g0198a0001c0001t0006g0014others(38): Show | 48 | 398 | 0.1206 | 9 | c.-78 others(18): Show |
HAPSTR1 | ENSG00000182831.12 | transcript | ENST00000327827.12 | protein_coding | 378 | chr16 | TogoVar | ||||||
HARBI1_chr11_46597861_46622227 | 46619372 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01515.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0060a0001c0001t0001g0061others(5): Show | 10 | 258 | 0.0388 | 9 | c.-24 others(20): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 2146 | chr11 | TogoVar | ||||||
HARS1_chr5_140668905_140696370 | 140695426 | C | CAGTTGAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(74): Show | 188 | 384 | 0.4896 | 9 | c.-41 others(20): Show |
HARS1 | ENSG00000170445.16 | transcript | ENST00000504156.7 | protein_coding | 4057 | chr5 | TogoVar | ||||||
HARS2_chr5_140686455_140704305 | 140695426 | C | CAGTTGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(35): Show | 187 | 384 | 0.4870 | 9 | c.400 others(22): Show |
HARS2 | ENSG00000112855.17 | transcript | ENST00000230771.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HAS1_chr19_51708112_51728991 | 51714698 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0086a0001c0001t0002g0079a0001c0001t0002g0220others(5): Show | 8 | 464 | 0.0172 | 9 | c.105 others(26): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
HAS2_chr8_121607116_121646440 | 121609123 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01071.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0001g0009a0001c0001t0001g0091a0001c0001t0001g0095others(20): Show | 25 | 376 | 0.0665 | 9 | c.*49 others(20): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 2992 | chr8 | TogoVar | ||||||
HAS2_chr8_121607116_121646440 | 121642847 | C | CCACCGCC others(2): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019 | a0001c0001t0006g0051a0001c0001t0006g0052a0001c0001t0019g0044others(2): Show | 5 | 376 | 0.0133 | 9 | c.-19 others(20): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1408 | chr8 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171917615 | G | GTGAAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01099.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212a0001c0001t0001g0216a0001c0001t0001g0217others(21): Show | 24 | 326 | 0.0736 | 9 | c.-48 others(20): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4845 | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171938075 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18960.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0258 | 3 | 326 | 0.0092 | 9 | c.113 others(26): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171953626 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0146a0001c0001t0001g0147others(28): Show | 32 | 326 | 0.0982 | 9 | c.309 others(24): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02735.hp1 NA18968.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 6 | 326 | 0.0184 | 9 | c.975 others(26): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42544836 | C | CTATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004a0001c0002t0004g0298a0001c0002t0004g0299others(5): Show | 11 | 350 | 0.0314 | 9 | c.-40 others(20): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 4001 | chr15 | TogoVar | ||||||
HAUS4_chr14_22941228_22962090 | 22960464 | C | CTACTAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027a0001c0001t0003g0072a0001c0001t0003g0076 | 4 | 317 | 0.0126 | 9 | c.-35 others(20): Show |
HAUS4 | ENSG00000092036.19 | transcript | ENST00000541587.6 | protein_coding | 3375 | chr14 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17075767 | A | AGCGGCGG others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0030a0001c0003t0002g0031a0001c0003t0002g0032others(1): Show | 4 | 400 | 0.0100 | 9 | c.-34 others(18): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 316 | chr19 | TogoVar | ||||||
HAVCR2_chr5_157080832_157114044 | 157092878 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0034others(10): Show | 15 | 380 | 0.0395 | 9 | c.676 others(26): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
HAX1_chr1_154267629_154280875 | 154267880 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02145.hp2 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0002a0001c0001t0002g0004 | 6 | 392 | 0.0153 | 9 | c.-48 others(20): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 4748 | chr1 | TogoVar | ||||||
HBM_chr16_160978_171764 | 164731 | C | CGGGGTCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00673.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 51 | 370 | 0.1378 | 9 | c.-12 others(20): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1246 | chr16 | TogoVar | ||||||
HBM_chr16_160978_171764 | 164771 | T | TCGCGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 370 | 0.0108 | 9 | c.-12 others(20): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1206 | chr16 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 154177 | G | GGCGGGGG others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01106.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0033others(4): Show | 50 | 432 | 0.1157 | 9 | c.300 others(22): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HCAR2_chr12_122696293_122708357 | 122704416 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02559.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 20 | 428 | 0.0467 | 9 | c.-11 others(20): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 1060 | chr12 | TogoVar | ||||||
HCCS_chrX_11106332_11128086 | 11111355 | A | AGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02165.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001a0001c0001t0007g0016 | 2 | 236 | 0.0085 | 9 | c.-18 others(18): Show |
HCCS | ENSG00000004961.15 | transcript | ENST00000380762.5 | protein_coding | 1/7 | 680 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
HCK_chr20_32047242_32106856 | 32066331 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0057a0001c0001t0001g0063others(6): Show | 9 | 290 | 0.0310 | 9 | c.63- others(24): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45593644 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0085a0001c0001t0001g0102others(59): Show | 62 | 226 | 0.2743 | 9 | c.849 others(28): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 586285 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(150): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(80): Show | a0001c0001t0001g0081a0001c0001t0001g0083a0001c0001t0001g0085others(148): Show | 153 | 408 | 0.3750 | 9 | c.-36 others(20): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3595 | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 615946 | C | CCCGCCGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02080.hp2 HG03927.hp2 NA19074.hp2 |
a0007a0009 | a0007c0095a0007c0106a0009c0061 | a0007c0095t0001a0007c0106t0002a0009c0061t0001 | a0007c0095t0001g0211a0007c0106t0002g0187a0009c0061t0001g0356 | 3 | 408 | 0.0074 | 9 | c.215 others(18): Show |
p.Pro others(13): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 8/8 | 2230/3420 | 2165/2670 | 722/889 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
HCN3_chr1_155272463_155294848 | 155292241 | G | GAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(159): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(67): Show | 162 | 339 | 0.4779 | 9 | c.*37 others(20): Show |
HCN3 | ENSG00000143630.10 | transcript | ENST00000368358.4 | protein_coding | 2394 | chr1 | TogoVar | ||||||
HCRTR1_chr1_31612689_31632613 | 31624448 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG03041.hp1 others(6): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0003a0004c0005t0003 | a0002c0003t0003g0013a0002c0003t0003g0067a0004c0005t0003g0009others(1): Show | 9 | 334 | 0.0270 | 9 | c.966 others(24): Show |
HCRTR1 | ENSG00000121764.12 | transcript | ENST00000403528.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HDAC11_chr3_13475306_13511416 | 13510462 | C | CTTTTCTT others(2): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 NA18942.hp2 NA18959.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0168a0001c0001t0001g0199a0001c0001t0001g0319others(3): Show | 6 | 420 | 0.0143 | 9 | c.*57 others(20): Show |
HDAC11 | ENSG00000163517.15 | transcript | ENST00000295757.8 | protein_coding | 4047 | chr3 | TogoVar | ||||||
HDAC11_chr3_13475306_13511416 | 13510463 | T | TTTTCTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00741.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0019a0001c0002t0001 | a0001c0001t0001g0054a0001c0001t0001g0064a0001c0001t0001g0068others(33): Show | 36 | 420 | 0.0857 | 9 | c.*57 others(20): Show |
HDAC11 | ENSG00000163517.15 | transcript | ENST00000295757.8 | protein_coding | 4048 | chr3 | TogoVar |