Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0023 a0002c0002t0004g0023	1	464	0.0022	31	c.-53 others(42): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01981.hp1 HG02056.hp2 HG01169.hp2 HG01981.hp1 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0287 a0001c0002t0002g0311 a0001c0002t0002g0313 a0001c0002t0002g0287 a0001c0002t0002g0311 a0001c0002t0002g0313	3	368	0.0082	31	c.188 others(48): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0009 a0007c0015t0009	a0007c0015t0009g0365 a0007c0015t0009g0365	1	368	0.0027	31	c.-72 others(48): Show c.-72-1087_-72-1086insATATATATATATATATATTTTTTTTTTT TTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31407604	A A	ATATTTAT others(24): Show ATATTTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0012 a0011c0013t0012	a0011c0013t0012g0336 a0011c0013t0012g0336	1	354	0.0028	31	c.-74 others(48): Show c.-74-4556_-74-4555insATATATATATATATATATATATATATAA ATA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0171 a0002c0003t0002g0171	1	314	0.0032	31	c.591 others(50): Show c.5912-2422_5912-2421insATATATATATATATATATATTTTTTT TTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	342	0.0029	31	c.357 others(48): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112332141	T T	TACAAGAA others(24): Show TACAAGAAGTATTTCTTGTATACAAGAAAAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0008 a0001c0031t0008	a0001c0031t0008g0251 a0001c0031t0008g0251	1	270	0.0037	31	c.178 others(50): Show c.178-12400_178-12399insGTTTTTCTTGTATACAAGAAATACTT CTTGT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0111 a0001c0001t0017g0111	1	112	0.0089	31	c.313 others(48): Show c.3135+396_3135+397insATATATATATATATATATATATATATAT ATA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18968.hp2 HG02809.hp1 NA18968.hp2	a0004 a0016 a0004 a0016	a0004c0004 a0016c0021 a0004c0004 a0016c0021	a0004c0004t0001 a0016c0021t0001 a0004c0004t0001 a0016c0021t0001	a0004c0004t0001g0190 a0016c0021t0001g0224 a0004c0004t0001g0190 a0016c0021t0001g0224	2	390	0.0051	31	c.267 others(50): Show c.2670+1940_2670+1941insTATATATATATATATATATATATATA TATAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HERC4_chr10_67916905_68080283	68059905	T T	TAATATTA others(24): Show TAATATTATATATCATAATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	360	0.0028	31	c.226 others(50): Show c.226+12977_226+12978insTATAATATATAATATTATGATATATA ATATT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC6_chr4_88373852_88448097	88380219	A A	AATATATA others(24): Show AATATATATAATATATAAATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0107	1	174	0.0058	31	c.199 others(48): Show c.199+1106_199+1107insTAATATATAAATATATATAAATATATAT ATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HGF_chr7_81694010_81775047	81697198	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	272	0.0037	31	c.53 others(42): Show c.5382_*5383insTATATATATATATATATATATATATATATAT	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1811		chr7	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(24): Show GTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19012.hp2 NA19063.hp2 NA18952.hp1 NA19012.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0153 a0001c0001t0002g0158 a0002c0003t0001g0249 a0001c0001t0002g0153 a0001c0001t0002g0158 a0002c0003t0001g0249	3	268	0.0112	31	c.104 others(52): Show c.1043+13183_1043+13184insGTTTTGTTTTTTTTTTTTTTTTTT TTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99673657	G G	GGGTACAC others(24): Show GGGTACACTGAGGGGGGTGGCACAGAGGGGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 HG02723.hp2 HG03139.hp1	a0002 a0002	a0002c0006 a0002c0016 a0002c0006 a0002c0016	a0002c0006t0002 a0002c0016t0039 a0002c0006t0002 a0002c0016t0039	a0002c0006t0002g0148 a0002c0016t0039g0116 a0002c0006t0002g0148 a0002c0016t0039g0116	2	374	0.0054	31	c.181 others(50): Show c.1813+1261_1813+1262insACACTGAGGGGGGTGGCACAGAGGGG GTGGT	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99673657	G G	GGGTGCAC others(24): Show GGGTGCACTGAGGGGGGTGGCACAGAGGGGGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0317 a0002c0001t0012g0317	1	374	0.0027	31	c.181 others(50): Show c.1813+1277_1813+1307dupGCACAGAGGGGGTGGTGCACTGAGGG GGGTG	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99673673	G G	GTGGCACA others(24): Show GTGGCACAGAGGGGGTGGTGCACTGAGGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0000c0014 a0001c0002 a0001c0003 others(12): Show a0000c0014 a0001c0002 a0001c0003 a0001c0007 a0001c0017 a0002c0001 a0002c0004 a0002c0005 a0002c0006 a0002c0009 a0003c0008 a0004c0011 a0005c0013 a0006c0012 a0007c0015	a0000c0014t0023 a0001c0002t0002 a0001c0002t0003 others(46): Show a0000c0014t0023 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0020 a0001c0002t0022 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0033 a0001c0002t0035 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0015 a0001c0003t0016 a0001c0003t0017 a0001c0003t0030 a0001c0007t0003 a0001c0017t0002 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0008 a0002c0001t0009 a0002c0001t0010 a0002c0001t0018 a0002c0001t0021 a0002c0001t0025 a0002c0001t0034 a0002c0004t0001 a0002c0004t0005 a0002c0004t0010 a0002c0004t0019 a0002c0004t0026 a0002c0005t0006 a0002c0005t0037 a0002c0006t0002 a0002c0009t0001 a0003c0008t0001 a0004c0011t0001 a0005c0013t0003 a0006c0012t0001 a0007c0015t0001	a0000c0014t0023g0007 a0001c0002t0002g0004 a0001c0002t0002g0005 others(325): Show a0000c0014t0023g0007 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0017 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0052 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0081 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0156 a0001c0002t0002g0158 a0001c0002t0002g0187 a0001c0002t0002g0196 a0001c0002t0002g0205 a0001c0002t0002g0238 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0033 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0206 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0254 a0001c0002t0003g0266 a0001c0002t0003g0272 a0001c0002t0003g0313 a0001c0002t0004g0080 a0001c0002t0004g0113 a0001c0002t0004g0123 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0213 a0001c0002t0004g0292 a0001c0002t0007g0039 a0001c0002t0007g0179 a0001c0002t0007g0191 a0001c0002t0007g0194 a0001c0002t0007g0297 a0001c0002t0011g0243 a0001c0002t0011g0244 a0001c0002t0011g0245 a0001c0002t0014g0026 a0001c0002t0014g0032 a0001c0002t0020g0232 a0001c0002t0022g0256 a0001c0002t0027g0059 a0001c0002t0028g0061 a0001c0002t0029g0207 a0001c0002t0033g0018 a0001c0002t0035g0253 a0001c0003t0001g0015 a0001c0003t0002g0006 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0101 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0125 a0001c0003t0002g0130 a0001c0003t0002g0132 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0147 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0003t0002g0321 a0001c0003t0002g0322 a0001c0003t0002g0324 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0332 a0001c0003t0002g0333 a0001c0003t0002g0334 a0001c0003t0002g0336 a0001c0003t0002g0338 a0001c0003t0002g0339 a0001c0003t0002g0340 a0001c0003t0002g0341 a0001c0003t0002g0343 a0001c0003t0002g0344 a0001c0003t0002g0345 a0001c0003t0002g0346 a0001c0003t0002g0347 a0001c0003t0002g0348 a0001c0003t0002g0349 a0001c0003t0002g0350 a0001c0003t0002g0351 a0001c0003t0002g0354 a0001c0003t0002g0355 a0001c0003t0002g0356 a0001c0003t0002g0357 a0001c0003t0002g0358 a0001c0003t0002g0359 a0001c0003t0003g0124 a0001c0003t0003g0134 a0001c0003t0003g0137 a0001c0003t0004g0127 a0001c0003t0004g0128 a0001c0003t0004g0135 a0001c0003t0004g0136 a0001c0003t0004g0138 a0001c0003t0004g0139 a0001c0003t0004g0140 a0001c0003t0008g0353 a0001c0003t0015g0328 a0001c0003t0015g0330 a0001c0003t0016g0129 a0001c0003t0017g0146 a0001c0003t0030g0089 a0001c0007t0003g0277 a0001c0017t0002g0005 a0002c0001t0001g0003 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0019 a0002c0001t0001g0034 a0002c0001t0001g0042 a0002c0001t0001g0043 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0055 a0002c0001t0001g0060 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0173 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0180 a0002c0001t0001g0189 a0002c0001t0001g0214 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0255 a0002c0001t0001g0258 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0288 a0002c0001t0001g0290 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0301 a0002c0001t0001g0302 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0307 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0003g0211 a0002c0001t0003g0242 a0002c0001t0003g0246 a0002c0001t0003g0247 a0002c0001t0003g0248 a0002c0001t0003g0252 a0002c0001t0003g0296 a0002c0001t0005g0007 a0002c0001t0005g0157 a0002c0001t0005g0165 a0002c0001t0005g0168 a0002c0001t0005g0169 a0002c0001t0005g0170 a0002c0001t0005g0171 a0002c0001t0005g0172 a0002c0001t0005g0230 a0002c0001t0008g0002 a0002c0001t0008g0058 a0002c0001t0008g0064 a0002c0001t0009g0208 a0002c0001t0010g0062 a0002c0001t0010g0212 a0002c0001t0018g0306 a0002c0001t0021g0076 a0002c0001t0025g0121 a0002c0001t0034g0263 a0002c0004t0001g0014 a0002c0004t0001g0093 a0002c0004t0001g0100 a0002c0004t0001g0149 a0002c0004t0001g0152 a0002c0004t0001g0153 a0002c0004t0001g0154 a0002c0004t0001g0155 a0002c0004t0001g0323 a0002c0004t0001g0325 a0002c0004t0001g0329 a0002c0004t0001g0331 a0002c0004t0001g0337 a0002c0004t0005g0102 a0002c0004t0005g0103 a0002c0004t0005g0109 a0002c0004t0010g0131 a0002c0004t0019g0108 a0002c0004t0026g0335 a0002c0005t0006g0220 a0002c0005t0006g0221 a0002c0005t0006g0222 a0002c0005t0006g0223 a0002c0005t0006g0224 a0002c0005t0006g0236 a0002c0005t0006g0237 a0002c0005t0037g0217 a0002c0006t0002g0082 a0002c0009t0001g0257 a0003c0008t0001g0352 a0004c0011t0001g0291 a0005c0013t0003g0312 a0006c0012t0001g0159 a0007c0015t0001g0259	338	374	0.9037	31	c.181 others(50): Show c.1813+1304_1813+1305insTTGGCACAGAGGGGGTGGTGCACTGA GGGGG	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HIBCH_chr2_190198920_190324826	190314413	G G	GTATATAT others(24): Show GTATATATATATACACACACAACCAAATTCCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	368	0.0027	31	c.36- others(46): Show c.36-3648_36-3618dupAGGAATTTGGTTGTGTGTGTATATATATAT A	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/13			chr2	TogoVar
HIKESHI_chr11_86297240_86350943	86307298	A A	ATATACAT others(24): Show ATATACATTATATATCAATATATTATGTGTAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(125): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03669.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(113): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0373 a0001c0001t0002g0261 a0001c0001t0004g0250	128	398	0.3216	31	c.268 others(46): Show c.268+823_268+824insTATATATCAATATATTATGTGTAGTATACA T	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86307958	T T	TATAAAAT others(24): Show TATAAAATATATATTATGTGTAATATATATTA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19079.hp2 NA19087.hp1 NA18947.hp1 NA19079.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0061 a0001c0001t0001g0121 a0001c0001t0001g0122	3	398	0.0075	31	c.268 others(48): Show c.268+1476_268+1477insATAAAATATATATTATGTGTAATATATA TTA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4			chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	398	0.0025	31	c.268 others(50): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTCTT others(24): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	404	0.0025	31	c.182 others(48): Show c.182-1231_182-1230insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01256.hp2 others(9): Show HG00423.hp1 HG00423.hp2 HG01256.hp2 HG01258.hp2 HG02027.hp1 HG02056.hp2 HG02132.hp1 HG02602.hp2 HG03927.hp1 NA18943.hp1 NA18980.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0046 others(4): Show a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0046 a0001c0001t0003g0181 a0001c0001t0003g0186 a0001c0001t0003g0200 a0001c0001t0003g0203	12	404	0.0297	31	c.182 others(48): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1R_chr12_122830457_122867961	122850568	T T	TGGGGGGG others(24): Show TGGGGGGGCCCTGGTTCGGTGGCCGCTGGGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	348	0.0029	31	c.439 others(46): Show c.439-243_439-213dupGCTGGGTGGGGGGGGCCCTGGTTCGGTGGC C	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
HIP1R_chr12_122830457_122867961	122853216	T T	TTGTCAGG others(24): Show TTGTCAGGGGCAGGGGAGACGGGCCCTGGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02602.hp2 HG02976.hp1 others(4): Show HG00280.hp1 HG02602.hp2 HG02976.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0038 others(3): Show a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0044	7	348	0.0201	31	c.578 others(46): Show c.578-529_578-499dupCGGGCCCTGGGGGTGTCAGGGGCAGGGGAG A	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	7/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
HIRA_chr22_19325698_19436733	19390601	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	364	0.0028	31	c.936 others(48): Show c.936+1499_936+1500insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	9/24			chr22	TogoVar
HIVEP1_chr6_12007312_12169999	12167656	T T	TTATATAT others(24): Show TTATATATACATATATACATATATGTGTATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG01168.hp1 others(24): Show HG00642.hp2 HG00673.hp1 HG01168.hp1 HG01346.hp1 HG01516.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02572.hp1 HG02895.hp1 HG02965.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18946.hp2 NA18969.hp2 NA18971.hp2 NA18992.hp1 NA18998.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp2	a0004 a0012 a0004 a0012	a0004c0004 a0012c0018 a0004c0004 a0012c0018	a0004c0004t0001 a0004c0004t0002 a0012c0018t0001 a0004c0004t0001 a0004c0004t0002 a0012c0018t0001	a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0008 others(24): Show a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0008 a0004c0004t0001g0036 a0004c0004t0001g0048 a0004c0004t0001g0082 a0004c0004t0001g0089 a0004c0004t0001g0091 a0004c0004t0001g0117 a0004c0004t0001g0165 a0004c0004t0001g0207 a0004c0004t0001g0210 a0004c0004t0001g0243 a0004c0004t0001g0261 a0004c0004t0001g0262 a0004c0004t0001g0263 a0004c0004t0001g0265 a0004c0004t0001g0267 a0004c0004t0001g0321 a0004c0004t0001g0325 a0004c0004t0001g0332 a0004c0004t0001g0333 a0004c0004t0002g0216 a0004c0004t0002g0334 a0004c0004t0002g0336 a0012c0018t0001g0337 a0012c0018t0001g0338	27	344	0.0785	31	c.31 others(42): Show c.3195_*3196insTATATATACATATATACATATATGTGTATAA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2658		chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142862705	C C	CTATATAT others(24): Show CTATATATTATACATTACATATATTATGTAAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	288	0.0035	31	c.-64 others(52): Show c.-640-25689_-640-25659dupATTACATAATATATGTAATGTATA ATATATA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	1/9			chr6	TogoVar
HJURP_chr2_233831702_233859535	233855757	G G	GAAAAAAA others(24): Show GAAAAAAAAATAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0001 a0024c0033t0001	a0024c0033t0001g0077 a0024c0033t0001g0077	1	450	0.0022	31	c.-12 others(42): Show c.-1258_-1257insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTT	HJURP	ENSG00000123485.12	transcript	ENST00000411486.7	protein_coding		1223		chr2	TogoVar
HLA-DQA1_chr6_32632406_32648684	32638769	G G	GAAGGAAA others(24): Show GAAGGAAAAAAGAAAAAGAAAGAAAAAAGAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0025 a0006c0007t0005g0025	1	86	0.0116	31	c.82+ others(46): Show c.82+1229_82+1230insAAGGAAAAAAGAAAAAGAAAGAAAAAAGAA A	HLA-DQA1	ENSG00000196735.13	transcript	ENST00000343139.11	protein_coding	1/4			chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	479	0.0021	31	c.71 others(40): Show c.710_*711insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(24): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0041 a0041	a0041c0034 a0041c0034	a0041c0034t0001 a0041c0034t0001	a0041c0034t0001g0011 a0041c0034t0001g0011	1	258	0.0039	31	c.235 others(50): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGCLL1_chr6_55429373_55584192	55477284	T T	TATATATA others(24): Show TATATATAAAATATATATATAATTTATATAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	334	0.0030	31	c.795 others(50): Show c.795+18134_795+18135insTTTATATAAATTATATATATATTTTA TATAT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMHB1_chr5_143807161_143825716	143820318	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01496.hp2 others(4): Show HG01168.hp2 HG01169.hp2 HG01496.hp2 HG01975.hp1 NA18945.hp1 NA18965.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0130 a0002c0002t0001g0014 a0002c0002t0001g0130	7	458	0.0153	31	c.38- others(44): Show c.38-160_38-130dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG04184.hp1 HG03516.hp1 HG04184.hp1	a0003 a0013 a0003 a0013	a0003c0003 a0013c0013 a0003c0003 a0013c0013	a0003c0003t0001 a0013c0013t0007 a0003c0003t0001 a0013c0013t0007	a0003c0003t0001g0179 a0013c0013t0007g0044 a0003c0003t0001g0179 a0013c0013t0007g0044	2	406	0.0049	31	c.37 others(42): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding		2936		chr5	TogoVar
HMOX1_chr22_35376096_35399207	35392256	A A	AAGAATTT others(24): Show AAGAATTTCTCAGTTTTAATATCTAATTTTGT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0100 a0004c0007t0011g0100	1	384	0.0026	31	c.737 others(48): Show c.737-1210_737-1180dupGAATTTCTCAGTTTTAATATCTAATTTT GTA	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNF4G_chr8_75534869_75571834	75566069	G G	GCTTATTT others(24): Show GCTTATTTTTTTATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0003 a0001c0001t0019g0003	1	394	0.0025	31	c.19 others(42): Show c.1973_*1974insCTTATTTTTTTATTTTTTTTTTTTTTTTTTT	HNF4G	ENSG00000164749.13	transcript	ENST00000396423.4	protein_coding	10/10	1974		chr8	TogoVar
HNRNPAB_chr5_178199533_178216163	178203504	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	462	0.0022	31	c.-12 others(42): Show c.-1260_-1259insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HNRNPAB	ENSG00000197451.12	transcript	ENST00000358344.8	protein_coding		1028		chr5	TogoVar
HNRNPLL_chr2_38556969_38607928	38588546	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0258 a0002c0002t0006g0258	1	338	0.0030	31	c.309 others(48): Show c.309-2666_309-2665insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	HNRNPLL	ENSG00000143889.16	transcript	ENST00000449105.8	protein_coding	2/12			chr2	TogoVar
HOMER1_chr5_79367636_79519134	79379351	A A	ATTATATA others(24): Show ATTATATAAATATTTATATATATTTATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	290	0.0035	31	c.877 others(48): Show c.877-3185_877-3155dupAATATATAAATATATATAAATATTTATA TAA	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	8/8			chr5	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG03540.hp2 HG02559.hp2 HG02615.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0288 a0001c0001t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0288	3	348	0.0086	31	c.295 others(48): Show c.295-4283_295-4282insATATATATATATATATATATATATATAT ATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	348	0.0029	31	c.295 others(48): Show c.295-4283_295-4282insAAATATATATATATATATATATATATAT ATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	348	0.0029	31	c.295 others(48): Show c.295-4283_295-4282insAAAAAAATATATATATATATATATATAT ATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868542	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	348	0.0029	31	c.295 others(48): Show c.295-4284_295-4283insTATATATATATATATATATATATATATA TAT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMEZ_chr14_23267422_23291132	23280774	T T	TTTTTTAT others(24): Show TTTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0146 a0003c0003t0001g0146	1	394	0.0025	31	c.41- others(46): Show c.41-3588_41-3587insTAAAATAAAATAAAATAAAATAAAATAAAA A	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HORMAD2_chr22_30075464_30182075	30150486	C C	CCTCTTCC others(24): Show CCTCTTCCCCCACCCACCTCCTCTACCTCTCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	350	0.0029	31	c.820 others(50): Show c.820-25573_820-25543dupTTCCCCCACCCACCTCCTCTACCTCT CTCTC	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30175318	T T	TATAGAAT others(24): Show TATAGAATATATATAATAATATATATAATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02083.hp2 NA19059.hp1 HG01192.hp1 HG02083.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0001g0136 a0001c0001t0001g0182 a0001c0001t0001g0200	3	350	0.0086	31	c.820 others(46): Show c.820-742_820-741insGAATATATATAATAATATATATAATATAAT A	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GTGTGTGT others(24): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	400	0.0025	31	c.37 others(42): Show c.3745_*3746insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(24): Show TTCTCTTCTCTTCTCTTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	306	0.0033	31	c.26 others(42): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(24): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0001 a0001c0001t0033g0001	1	306	0.0033	31	c.26 others(42): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(24): Show TTCTCTTCTCTTCTCTTCTTTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	31	c.26 others(42): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTTTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar

Search by Variant

Search

Search Results (Total: 5228 hits)