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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GUCY2C_chr12_14607632_14701599 | 14666713 | TGATACAG others(6): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02486.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0131 a0001c0005t0002g0132 a0001c0005t0002g0133 |
3 | 236 | 0.0127 | -13 | c.128 others(32): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 10/26 | chr12 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14697054 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18983.hp1 NA19090.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0020 a0001c0004t0001g0021 |
2 | 236 | 0.0085 | -13 | c.-61 others(22): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 456 | chr12 | TogoVar | |||||||
GULP1_chr2_188286874_188600926 | 188456202 | CAGTAATT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01069.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0141 a0001c0001t0002g0060 a0001c0001t0003g0028 others(30): Show |
33 | 162 | 0.2037 | -13 | c.-44 others(32): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188584204 | TATTTAGC others(6): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0129 a0001c0001t0004g0095 a0001c0001t0004g0128 others(7): Show |
10 | 162 | 0.0617 | -13 | c.610 others(26): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GVQW3_chr11_76376323_76413132 | 76407641 | ATTTCTTA others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02922.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0030 | a0001c0001t0028g0044 a0001c0001t0030g0051 |
2 | 382 | 0.0052 | -13 | c.*38 others(24): Show |
GVQW3 | ENSG00000179240.13 | transcript | ENST00000529331.2 | protein_coding | 2/2 | 3895 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GXYLT1_chr12_42076845_42149874 | 42077827 | ATCGCCAC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02015.hp2 NA19062.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0007 | 2 | 398 | 0.0050 | -13 | c.*99 others(24): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 4017 | chr12 | TogoVar | |||||||
GYG1_chr3_148986540_149036775 | 149021712 | GGTCTCCA others(6): Show |
G | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 414 | 0.0024 | -13 | c.609 others(30): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2846049 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0219 | 1 | 316 | 0.0032 | -13 | c.149 others(30): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2846055 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(11): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0002c0006others(1): Show | a0001c0003t0001a0001c0003t0005a0001c0003t0007others(7): Show | a0001c0003t0001g0027 a0001c0003t0005g0022 a0001c0003t0005g0304 others(11): Show |
14 | 316 | 0.0443 | -13 | c.149 others(30): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48973587 | TCAGCTCA others(6): Show |
T | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 390 | 0.0026 | -13 | c.154 others(30): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
GYS1_chr19_48963130_48998309 | 48979336 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 390 | 0.0026 | -13 | c.117 others(32): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
GYS2_chr12_21531107_21609847 | 21541268 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0156 |
2 | 312 | 0.0064 | -13 | c.164 others(30): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 13/15 | chr12 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 551791 | CTTTCTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG02258.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0086 others(11): Show |
16 | 398 | 0.0402 | -13 | c.*20 others(24): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1870 | chr19 | TogoVar | |||||||
H1-0_chr22_37800229_37812432 | 37811054 | GCCAGTGC others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 360 | 0.0028 | -13 | c.*49 others(24): Show |
H1-0 | ENSG00000189060.6 | transcript | ENST00000340857.4 | protein_coding | 3623 | chr22 | TogoVar | |||||||
H1-0_chr22_37800229_37812432 | 37811219 | ATGCCTGT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 360 | 0.0028 | -13 | c.*50 others(24): Show |
H1-0 | ENSG00000189060.6 | transcript | ENST00000340857.4 | protein_coding | 3788 | chr22 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540493 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0043 | 1 | 422 | 0.0024 | -13 | c.-27 others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2681 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540495 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02572.hp1 HG02976.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0004 | a0003c0004t0001g0008 a0003c0004t0001g0024 a0003c0004t0004g0043 |
3 | 422 | 0.0071 | -13 | c.-27 others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2679 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540497 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp2 HG03579.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0008 a0003c0004t0001g0101 |
2 | 422 | 0.0047 | -13 | c.-27 others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2677 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540505 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0098 | 1 | 422 | 0.0024 | -13 | c.-27 others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2669 | chr3 | TogoVar | |||||||
H2AC18_chr1_149837218_149847750 | 149841666 | TCCGAGGC others(6): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp1 | a0004 | a0004c0007 | a0004c0007t0007 | a0004c0007t0007g0000 | 1 | 320 | 0.0031 | -13 | c.*62 others(22): Show |
H2AC18 | ENSG00000288825.1 | transcript | ENST00000369159.3 | protein_coding | 551 | chr1 | TogoVar | |||||||
H2AJ_chr12_14769405_14780024 | 14779321 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 452 | 0.0022 | -13 | c.*44 others(24): Show |
H2AJ | ENSG00000246705.5 | transcript | ENST00000544848.3 | protein_coding | 4298 | chr12 | TogoVar | |||||||
H2AZ2_chr7_44826978_44853087 | 44843137 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0308 a0001c0001t0004g0146 a0001c0001t0004g0152 others(1): Show |
4 | 406 | 0.0099 | -13 | c.81+ others(26): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
H3-3A_chr1_226057716_226077019 | 226075798 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG04115.hp1 NA18992.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(3): Show |
6 | 434 | 0.0138 | -13 | c.*43 others(24): Show |
H3-3A | ENSG00000163041.13 | transcript | ENST00000366815.10 | protein_coding | 3780 | chr1 | TogoVar | |||||||
H3C11_chr6_27866845_27877346 | 27876576 | TAAAAAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | NA18950.hp2 NA18994.hp1 NA19011.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 4 | 374 | 0.0107 | -13 | c.-42 others(24): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 4231 | chr6 | TogoVar | |||||||
H4C13_chr6_27868148_27878534 | 27876576 | TAAAAAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | NA18950.hp2 NA18994.hp1 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 384 | 0.0104 | -13 | c.-30 others(24): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 3043 | chr6 | TogoVar | |||||||
H4C15_chr1_149855764_149866159 | 149865978 | GAAAGAAA others(6): Show |
G | upstream_gene_variant | MODIFIER | NA21309.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 206 | 0.0097 | -13 | c.-48 others(24): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4820 | chr1 | TogoVar | |||||||
H4C3_chr6_26098933_26109337 | 26101556 | AAGCGCAA others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | -13 | c.-23 others(24): Show |
H4C3 | ENSG00000197061.5 | transcript | ENST00000377803.4 | protein_coding | 2376 | chr6 | TogoVar | |||||||
H4C3_chr6_26098933_26109337 | 26101655 | CATATATA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | -13 | c.-22 others(24): Show |
H4C3 | ENSG00000197061.5 | transcript | ENST00000377803.4 | protein_coding | 2277 | chr6 | TogoVar | |||||||
H6PD_chr1_9229774_9276337 | 9237236 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0253 | 1 | 404 | 0.0025 | -13 | c.-11 others(30): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HABP2_chr10_113548053_113594602 | 113569416 | GGTTGTGC others(6): Show |
G | intron_variant | MODIFIER | NA18955.hp2 | a0005 | a0005c0021 | a0005c0021t0001 | a0005c0021t0001g0217 | 1 | 446 | 0.0022 | -13 | c.106 others(30): Show |
HABP2 | ENSG00000148702.15 | transcript | ENST00000351270.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96456771 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01169.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0273 |
2 | 306 | 0.0065 | -13 | c.350 others(30): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96456773 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 306 | 0.0033 | -13 | c.350 others(30): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HABP4_chr9_96445169_96496336 | 96456781 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG03098.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0153 a0001c0001t0001g0196 a0001c0001t0001g0206 others(2): Show |
5 | 306 | 0.0163 | -13 | c.350 others(30): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123518521 | AGTTATTT others(6): Show |
A | intron_variant | MODIFIER | HG02080.hp2 HG02083.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0260 a0001c0003t0003g0263 a0001c0003t0003g0271 others(1): Show |
4 | 350 | 0.0114 | -13 | c.381 others(30): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123569988 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01070.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0148 a0001c0001t0002g0220 a0001c0001t0002g0251 others(24): Show |
27 | 350 | 0.0771 | -13 | c.274 others(30): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
HACD3_chr15_65525463_65583349 | 65537949 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0186 | 1 | 328 | 0.0031 | -13 | c.87+ others(28): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACL1_chr3_15555699_15606569 | 15601921 | GAGGGGGT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 428 | 0.0023 | -13 | c.-47 others(22): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 353 | chr3 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41733041 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0200 | 1 | 374 | 0.0027 | -13 | c.470 others(28): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
HAPLN1_chr5_83632805_83725855 | 83634919 | AGTATGGT others(6): Show |
A | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0291 | 1 | 372 | 0.0027 | -13 | c.*65 others(24): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 2885 | chr5 | TogoVar | |||||||
HAPLN1_chr5_83632805_83725855 | 83688642 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0309 | 1 | 372 | 0.0027 | -13 | c.-26 others(32): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
HAPLN2_chr1_156614415_156630725 | 156616405 | ACTGGGTT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -13 | c.-32 others(24): Show |
HAPLN2 | ENSG00000132702.13 | transcript | ENST00000255039.6 | protein_coding | 3009 | chr1 | TogoVar | |||||||
HAPLN3_chr15_88872294_88900544 | 88890023 | GAGGAAGG others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00621.hp2 others(97): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(49): Show |
100 | 436 | 0.2294 | -13 | c.-47 others(30): Show |
HAPLN3 | ENSG00000140511.12 | transcript | ENST00000359595.8 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
HAPLN4_chr19_19249756_19267804 | 19254986 | TCCTCAGC others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0064 | 1 | 400 | 0.0025 | -13 | c.*28 others(24): Show |
HAPLN4 | ENSG00000187664.9 | transcript | ENST00000291481.8 | protein_coding | 5/5 | 2818 | chr19 | TogoVar | ||||||
HAPSTR1_chr16_9086644_9126635 | 9115699 | CCGCCTCC others(6): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 2 | 398 | 0.0050 | -13 | c.584 others(28): Show |
HAPSTR1 | ENSG00000182831.12 | transcript | ENST00000327827.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HARS2_chr5_140686455_140704305 | 140703212 | CTTTCTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 384 | 0.0026 | -13 | c.*46 others(24): Show |
HARS2 | ENSG00000112855.17 | transcript | ENST00000230771.9 | protein_coding | 3908 | chr5 | TogoVar | |||||||
HAS3_chr16_69100653_69122660 | 69104992 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00735.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0022 | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0026 others(13): Show |
26 | 410 | 0.0634 | -13 | c.-79 others(22): Show |
HAS3 | ENSG00000103044.11 | transcript | ENST00000569188.6 | protein_coding | 660 | chr16 | TogoVar | |||||||
HAS3_chr16_69100653_69122660 | 69111157 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 2 | 410 | 0.0049 | -13 | c.636 others(30): Show |
HAS3 | ENSG00000103044.11 | transcript | ENST00000569188.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171970496 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02074.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0145 a0001c0001t0001g0146 others(7): Show |
10 | 326 | 0.0307 | -13 | c.823 others(30): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS1_chr18_46099385_46133333 | 46102916 | AGCTTGGA others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 372 | 0.0027 | -13 | c.-14 others(24): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 1468 | chr18 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42549765 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 350 | 0.0029 | -13 | c.93+ others(26): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |