view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIP1_chr12_66342431_66684076 | 66531245 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01123.hp1 NA18944.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0065 a0001c0001t0008g0119 a0001c0001t0008g0128 |
3 | 220 | 0.0136 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | |||||||
GRIP1_chr12_66342431_66684076 | 66531247 | AAAAAAAT others(22): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01167.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 others(16): Show |
19 | 207 | 0.0918 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | |||||||
GRIP1_chr12_66342431_66684076 | 66531249 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01256.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0041 others(5): Show |
8 | 220 | 0.0364 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | |||||||
GRIP1_chr12_66342431_66684076 | 66531251 | AAATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01081.hp2 others(24): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0001t0001g0149 others(24): Show |
27 | 208 | 0.1298 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | |||||||
GRIP1_chr12_66342431_66684076 | 66531253 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG01167.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0198 a0001c0001t0001g0214 a0001c0001t0002g0082 others(14): Show |
17 | 213 | 0.0798 | -29 | c.419 others(46): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 4/24 | chr12 | TogoVar | |||||||
GRK5_chr10_119202571_119464745 | 119452325 | TGAGCCCT others(22): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 200 | 0.0050 | -29 | c.140 others(46): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88978474 | TAAAAAAA others(22): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0003g0175 others(4): Show |
7 | 60 | 0.1167 | -29 | c.661 others(48): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
GRM7_chr3_6856115_7746533 | 7607294 | AAGCATTG others(22): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0002 | a0001c0001t0002g0025 a0001c0011t0002g0078 |
2 | 80 | 0.0250 | -29 | c.245 others(50): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRM8_chr7_126433598_127257941 | 126643306 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 106 | 0.0094 | -29 | c.135 others(50): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59227037 | CTTTCTTT others(22): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03669.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0003 | a0001c0004t0002g0015 a0002c0003t0003g0043 |
2 | 406 | 0.0049 | -29 | c.382 others(46): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GSDMC_chr8_129743196_129791624 | 129744048 | CTCCCTCT others(22): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(189): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0009a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(119): Show |
192 | 414 | 0.4638 | -29 | c.*44 others(40): Show |
GSDMC | ENSG00000147697.10 | transcript | ENST00000276708.9 | protein_coding | 4147 | chr8 | TogoVar | |||||||
GSK3A_chr19_42225190_42247602 | 42238268 | TGCTTGAA others(22): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 222 | 0.0045 | -29 | c.472 others(46): Show |
GSK3A | ENSG00000105723.13 | transcript | ENST00000222330.8 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
GSKIP_chr14_96358526_96392288 | 96391572 | CCAGACTT others(22): Show |
C | downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 406 | 0.0025 | -29 | c.*58 others(40): Show |
GSKIP | ENSG00000100744.15 | transcript | ENST00000555181.6 | protein_coding | 4285 | chr14 | TogoVar | |||||||
GSTM4_chr1_109651099_109666700 | 109654199 | GAAAAGAA others(22): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0013 |
2 | 336 | 0.0060 | -29 | c.-21 others(40): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1899 | chr1 | TogoVar | |||||||
GSTO1_chr10_104249892_104272455 | 104270484 | TATTTATT others(22): Show |
T | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 376 | 0.0027 | -29 | c.*30 others(40): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 3030 | chr10 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144182789 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
a0002a0003a0007 | a0002c0005a0003c0004a0007c0009 | a0002c0005t0001a0003c0004t0005a0003c0004t0014others(1): Show | a0002c0005t0001g0084 a0003c0004t0005g0086 a0003c0004t0014g0081 others(2): Show |
5 | 122 | 0.0410 | -29 | c.179 others(48): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | |||||||
GTF2E2_chr8_30573318_30663236 | 30656933 | AAATCTGA others(22): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 376 | 0.0027 | -29 | c.-5+ others(44): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
GTF3C1_chr16_27455613_27554913 | 27521019 | TCCCCAAT others(22): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0193 | 1 | 218 | 0.0046 | -29 | c.973 others(46): Show |
GTF3C1 | ENSG00000077235.18 | transcript | ENST00000356183.9 | protein_coding | 6/36 | chr16 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696937 | GTATATAT others(22): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02717.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0105 a0001c0002t0001g0147 a0001c0002t0001g0148 others(5): Show |
8 | 194 | 0.0412 | -29 | c.-51 others(38): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 339 | chr12 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14697001 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0081 |
2 | 233 | 0.0086 | -29 | c.-58 others(38): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 403 | chr12 | TogoVar | |||||||
H2AC6_chr6_26119172_26129690 | 26127447 | TAGAGGCT others(22): Show |
T | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 394 | 0.0025 | -29 | c.*28 others(40): Show |
H2AC6 | ENSG00000180573.10 | transcript | ENST00000377791.4 | protein_coding | 2758 | chr6 | TogoVar | |||||||
H2BC4_chr6_26118467_26128926 | 26127447 | TAGAGGCT others(22): Show |
T | upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 400 | 0.0025 | -29 | c.-35 others(40): Show |
H2BC4 | ENSG00000180596.9 | transcript | ENST00000396984.2 | protein_coding | 3522 | chr6 | TogoVar | |||||||
H3C11_chr6_27866845_27877346 | 27876576 | TAAAAAAA others(22): Show |
T | upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 13 | 0.0769 | -29 | c.-42 others(40): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 4231 | chr6 | TogoVar | |||||||
H4C13_chr6_27868148_27878534 | 27876576 | TAAAAAAA others(22): Show |
T | upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 13 | 0.0769 | -29 | c.-30 others(40): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 3043 | chr6 | TogoVar | |||||||
H4C15_chr1_149855764_149866159 | 149865949 | AAGAAAGA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 194 | 0.0052 | -29 | c.-48 others(40): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4791 | chr1 | TogoVar | |||||||
HACD3_chr15_65525463_65583349 | 65537945 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0267 | 1 | 324 | 0.0031 | -29 | c.87+ others(44): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537947 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 NA18955.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0009 a0001c0001t0001g0125 a0001c0001t0004g0033 |
4 | 306 | 0.0131 | -29 | c.87+ others(44): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537951 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 310 | 0.0032 | -29 | c.87+ others(44): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HAND2_chr4_173521091_173535229 | 173522510 | AAGGGAAT others(22): Show |
A | downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 | 1 | 458 | 0.0022 | -29 | c.*47 others(40): Show |
HAND2 | ENSG00000164107.9 | transcript | ENST00000359562.4 | protein_coding | 3580 | chr4 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41733012 | GTTTTTAG others(22): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 NA20300.hp1 |
a0016 | a0016c0013 | a0016c0013t0006 | a0016c0013t0006g0020 a0016c0013t0006g0021 a0016c0013t0006g0022 |
3 | 372 | 0.0081 | -29 | c.470 others(44): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
HARBI1_chr11_46597861_46622227 | 46622099 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 256 | 0.0039 | -29 | c.-51 others(40): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 4873 | chr11 | TogoVar | |||||||
HAS1_chr19_51708112_51728991 | 51718475 | GTATATCC others(22): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0210 | 1 | 462 | 0.0022 | -29 | c.699 others(44): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055134 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 385 | 0.0026 | -29 | c.787 others(44): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HAUS8_chr19_17044729_17080452 | 17055140 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 a0001c0002t0001g0028 |
3 | 395 | 0.0076 | -29 | c.787 others(44): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(22): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 others(5): Show |
8 | 39 | 0.2051 | -29 | c.62+ others(44): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 613573 | GGGGCCGG others(22): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 406 | 0.0025 | -29 | c.182 others(45): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84315849 | GAGACTGT others(22): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 267 | 0.0037 | -29 | c.*60 others(40): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 2028 | chrX | TogoVar | |||||||
HELT_chr4_185013490_185025953 | 185023050 | TCTCTCTC others(22): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 NA18941.hp2 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 4 | 452 | 0.0088 | -29 | c.*22 others(40): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2098 | chr4 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63737454 | GATATATA others(22): Show |
G | intron_variant | MODIFIER | HG02896.hp1 NA18522.hp2 |
a0015a0020 | a0015c0034a0020c0033 | a0015c0034t0001a0020c0033t0001 | a0015c0034t0001g0104 a0020c0033t0001g0103 |
2 | 209 | 0.0096 | -29 | c.252 others(48): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35631604 | TATATATA others(22): Show |
T | downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 390 | 0.0026 | -29 | c.*20 others(40): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 1054 | chr7 | TogoVar | |||||||
HES5_chr1_2523745_2535263 | 2530936 | TGGAGCCC others(22): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG00741.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 12 | 426 | 0.0282 | -29 | c.-80 others(38): Show |
HES5 | ENSG00000197921.6 | transcript | ENST00000378453.4 | protein_coding | 674 | chr1 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433112 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 339 | 0.0029 | -29 | c.283 others(44): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433114 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02300.hp2 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0055 a0001c0003t0001g0001 a0001c0003t0001g0004 others(4): Show |
9 | 397 | 0.0227 | -29 | c.283 others(44): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433126 | ATATTTTT others(22): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0162 | 1 | 385 | 0.0026 | -29 | c.283 others(44): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82441476 | AGGGGCAG others(22): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02559.hp1 others(9): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0149 a0002c0004t0001g0015 a0002c0004t0001g0016 others(7): Show |
12 | 398 | 0.0302 | -29 | c.116 others(46): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144684232 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0113 | 1 | 14 | 0.0714 | -29 | c.832 others(48): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144688775 | AGAACGGA others(22): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 others(11): Show |
14 | 314 | 0.0446 | -29 | c.832 others(48): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | chr4 | TogoVar | |||||||
HIP1R_chr12_122830457_122867961 | 122850608 | CCTGGTTC others(22): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 346 | 0.0029 | -29 | c.439 others(44): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75592556 | TCACTGCA others(22): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01975.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0002g0035 a0001c0001t0002g0042 |
3 | 252 | 0.0119 | -29 | c.185 others(42): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142818712 | AAAGAAAG others(22): Show |
A | intron_variant | MODIFIER | NA18971.hp2 NA18999.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0014 a0001c0020t0001g0094 |
2 | 249 | 0.0080 | -29 | c.-52 others(50): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar |