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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H2AB3_chrX_155454415_155465005 | 155456569 | G | GAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 NA18980.hp1 NA19072.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
3 | 214 | 0.0140 | 18 | c.*30 others(29): Show |
H2AB3 | ENSG00000277745.1 | transcript | ENST00000615853.1 | protein_coding | 2845 | chrX | TogoVar | |||||||
H2AC15_chr6_27832880_27843375 | 27842919 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | 18 | c.-45 others(29): Show |
H2AC15 | ENSG00000275221.2 | transcript | ENST00000618958.2 | protein_coding | 4545 | chr6 | TogoVar | |||||||
H2AC18_chr1_149837218_149847750 | 149838393 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG02040.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0004t0002 | a0001c0001t0001g0000 a0001c0001t0008g0000 a0001c0004t0002g0000 |
6 | 320 | 0.0188 | 18 | c.*38 others(29): Show |
H2AC18 | ENSG00000288825.1 | transcript | ENST00000369159.3 | protein_coding | 3824 | chr1 | TogoVar | |||||||
H2AC20_chr1_149881918_149892411 | 149891609 | C | CTGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 368 | 0.0027 | 18 | c.*42 others(29): Show |
H2AC20 | ENSG00000184260.6 | transcript | ENST00000331380.4 | protein_coding | 4199 | chr1 | TogoVar | |||||||
H2AC21_chr1_149882469_149892965 | 149891609 | C | CTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 362 | 0.0028 | 18 | c.-37 others(29): Show |
H2AC21 | ENSG00000184270.6 | transcript | ENST00000331128.6 | protein_coding | 3645 | chr1 | TogoVar | |||||||
H2AC4_chr6_26028092_26038618 | 26031152 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
19 | 406 | 0.0468 | 18 | c.*20 others(29): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1939 | chr6 | TogoVar | |||||||
H2AZ2_chr7_44826978_44853087 | 44843137 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0115 | 1 | 406 | 0.0025 | 18 | c.81+ others(31): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
H2AZ2_chr7_44826978_44853087 | 44846062 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0107 | 1 | 406 | 0.0025 | 18 | c.3+1 others(31): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
H2BC15_chr6_27833569_27844110 | 27842919 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 18 | c.*38 others(29): Show |
H2BC15 | ENSG00000233822.6 | transcript | ENST00000612898.2 | protein_coding | 3810 | chr6 | TogoVar | |||||||
H2BC21_chr1_149879459_149891682 | 149891609 | C | CTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0000 | 1 | 366 | 0.0027 | 18 | c.-49 others(29): Show |
H2BC21 | ENSG00000184678.11 | transcript | ENST00000369155.4 | protein_coding | 4928 | chr1 | TogoVar | |||||||
H3-3B_chr17_75771434_75784779 | 75782239 | A | ATTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(2): Show | a0001c0001t0002g0002 a0001c0001t0010g0011 a0001c0001t0019g0024 others(2): Show |
31 | 432 | 0.0718 | 18 | c.-26 others(29): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 2461 | chr17 | TogoVar | |||||||
H3C14_chr1_149835687_149846208 | 149838393 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG02040.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
6 | 302 | 0.0199 | 18 | c.*23 others(29): Show |
H3C14 | ENSG00000203811.2 | transcript | ENST00000369158.2 | protein_coding | 2293 | chr1 | TogoVar | |||||||
H3C2_chr6_26026589_26037099 | 26031152 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 |
18 | 396 | 0.0455 | 18 | c.*49 others(27): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 436 | chr6 | TogoVar | |||||||
H3Y2_chr5_17485967_17497076 | 17493385 | C | CATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01361.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
11 | 400 | 0.0275 | 18 | c.-16 others(29): Show |
H3Y2 | ENSG00000268799.4 | transcript | ENST00000600799.3 | protein_coding | 1310 | chr5 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27832868 | A | ATTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 419 | 0.0119 | 18 | c.-13 others(29): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1309 | chr6 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827865 | T | TTTCTTTC others(11): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02976.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 236 | 0.0127 | 18 | c.-48 others(29): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4791 | chr1 | TogoVar | |||||||
H4C2_chr6_26021896_26032283 | 26031152 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00621.hp1 others(15): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0006a0001c0003t0001 | a0001c0002t0002g0000 a0001c0002t0006g0000 a0001c0003t0001g0000 |
18 | 400 | 0.0450 | 18 | c.-39 others(29): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3870 | chr6 | TogoVar | |||||||
H4C5_chr6_26199610_26210021 | 26208096 | T | TAGACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 22 | 408 | 0.0539 | 18 | c.*31 others(29): Show |
H4C5 | ENSG00000276966.3 | transcript | ENST00000615164.3 | protein_coding | 3076 | chr6 | TogoVar | |||||||
H4C5_chr6_26199610_26210021 | 26208098 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01361.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0000 a0001c0003t0001g0000 |
11 | 408 | 0.0270 | 18 | c.*31 others(29): Show |
H4C5 | ENSG00000276966.3 | transcript | ENST00000615164.3 | protein_coding | 3078 | chr6 | TogoVar | |||||||
H4C5_chr6_26199610_26210021 | 26208124 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 NA18973.hp1 NA18984.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 11 | 408 | 0.0270 | 18 | c.*31 others(29): Show |
H4C5 | ENSG00000276966.3 | transcript | ENST00000615164.3 | protein_coding | 3104 | chr6 | TogoVar | |||||||
H4C5_chr6_26199610_26210021 | 26208124 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | 18 | c.*31 others(29): Show |
H4C5 | ENSG00000276966.3 | transcript | ENST00000615164.3 | protein_coding | 3104 | chr6 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123534798 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02145.hp1 HG02451.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0027others(4): Show | a0001c0001t0002g0201 a0001c0001t0002g0213 a0001c0001t0002g0220 others(8): Show |
11 | 350 | 0.0314 | 18 | c.293 others(35): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123542146 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0064 | 1 | 350 | 0.0029 | 18 | c.293 others(37): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123570917 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01255.hp1 HG01496.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0003g0112 a0001c0002t0001g0059 a0001c0002t0001g0060 others(9): Show |
12 | 350 | 0.0343 | 18 | c.274 others(35): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104811238 | T | TTATACAT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01516.hp2 HG02055.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0162 others(8): Show |
11 | 346 | 0.0318 | 18 | c.617 others(31): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 7/23 | chr6 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592481 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01952.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0048 others(11): Show |
14 | 428 | 0.0327 | 18 | c.228 others(33): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HADHA_chr2_26185635_26249632 | 26229348 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 274 | 0.0037 | 18 | c.676 others(33): Show |
HADHA | ENSG00000084754.12 | transcript | ENST00000380649.8 | protein_coding | 7/19 | chr2 | TogoVar | |||||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 290 | 0.0035 | 18 | c.138 others(35): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(30): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0022 others(27): Show |
33 | 290 | 0.1138 | 18 | c.138 others(35): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26289432 | T | TCACTTAA others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0165 a0001c0004t0003g0166 a0001c0004t0003g0185 others(5): Show |
8 | 290 | 0.0276 | 18 | c.139 others(35): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1804248 | A | ATATATGT others(11): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0154 | 1 | 436 | 0.0023 | 18 | c.*50 others(29): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 3380 | chr16 | TogoVar | |||||||
HAGH_chr16_1802629_1831825 | 1830917 | T | TACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0155 | 1 | 436 | 0.0023 | 18 | c.-41 others(29): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4093 | chr16 | TogoVar | |||||||
HAL_chr12_95967662_96001344 | 95971936 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(37): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(31): Show |
40 | 418 | 0.0957 | 18 | c.*22 others(29): Show |
HAL | ENSG00000084110.11 | transcript | ENST00000261208.8 | protein_coding | 725 | chr12 | TogoVar | |||||||
HAND2_chr4_173521091_173535229 | 173523993 | G | GCGCGCAC others(11): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 NA18988.hp2 NA19009.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0006 | 3 | 460 | 0.0065 | 18 | c.*32 others(29): Show |
HAND2 | ENSG00000164107.9 | transcript | ENST00000359562.4 | protein_coding | 2097 | chr4 | TogoVar | |||||||
HAND2_chr4_173521091_173535229 | 173535021 | C | CCAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | 18 | c.-57 others(29): Show |
HAND2 | ENSG00000164107.9 | transcript | ENST00000359562.4 | protein_coding | 4793 | chr4 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7909360 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194 a0001c0001t0002g0179 |
2 | 348 | 0.0058 | 18 | c.546 others(35): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 3/7 | chr20 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7909381 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02717.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0091 a0001c0001t0001g0144 a0001c0001t0001g0280 others(2): Show |
5 | 348 | 0.0144 | 18 | c.546 others(35): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 3/7 | chr20 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7909381 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 348 | 0.0029 | 18 | c.546 others(35): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 3/7 | chr20 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7936503 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG01257.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0262 others(13): Show |
17 | 348 | 0.0489 | 18 | c.138 others(35): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
HAO2_chr1_119363785_119399130 | 119365059 | T | TCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02004.hp2 HG02056.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0283 others(1): Show |
4 | 428 | 0.0094 | 18 | c.-38 others(29): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 3725 | chr1 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730031 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0191 | 1 | 374 | 0.0027 | 18 | c.106 others(37): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41735114 | T | TGCTGCAA others(11): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(81): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(19): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0218 others(73): Show |
84 | 374 | 0.2246 | 18 | c.-48 others(27): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 472 | chr17 | TogoVar | |||||||
HAPLN1_chr5_83632805_83725855 | 83661197 | C | CATCTATA others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01255.hp1 HG01255.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0022a0001c0001t0031others(2): Show | a0001c0001t0003g0023 a0001c0001t0003g0037 a0001c0001t0003g0045 others(22): Show |
25 | 372 | 0.0672 | 18 | c.101 others(35): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
HAPLN1_chr5_83632805_83725855 | 83721737 | G | GGGCGCGC others(11): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0363 | 1 | 372 | 0.0027 | 18 | c.-97 others(27): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 883 | chr5 | TogoVar | |||||||
HAPLN2_chr1_156614415_156630725 | 156623033 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00733.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0049 others(8): Show |
18 | 418 | 0.0431 | 18 | c.-24 others(33): Show |
HAPLN2 | ENSG00000132702.13 | transcript | ENST00000255039.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAS1_chr19_51708112_51728991 | 51723884 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0308 | 1 | 464 | 0.0022 | 18 | c.9+2 others(27): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
HAS2_chr8_121607116_121646440 | 121640420 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0145 | 1 | 376 | 0.0027 | 18 | c.-1+ others(31): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
HAS2_chr8_121607116_121646440 | 121642852 | G | GCCCCCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0138 | 1 | 376 | 0.0027 | 18 | c.-20 others(29): Show |
HAS2 | ENSG00000170961.7 | transcript | ENST00000303924.5 | protein_coding | 1413 | chr8 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171960913 | G | GGACAGGT others(11): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 326 | 0.0031 | 18 | c.310 others(35): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977524 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 326 | 0.0031 | 18 | c.975 others(35): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |