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 (≤).

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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
GTF3C1_chr16_27455613_27554913	27507399	A A	AGGCTATG others(16): Show AGGCTATGAGCTTCTCAGGGACAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	220	0.0046	23	c.124 others(40): Show c.1243-266_1243-244dupCTGTCCCTGAGAAGCTCATAGCC	GTF3C1	ENSG00000077235.18	transcript	ENST00000356183.9	protein_coding	8/36			chr16	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	252	0.0040	23	c.111 others(40): Show c.1115-696_1115-695insATATATTTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	252	0.0040	23	c.111 others(40): Show c.1115-696_1115-695insATATATATATATATATATATATA	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTPBP3_chr19_17332553_17347731	17335812	A A	ATGCTTGT others(16): Show ATGCTTGTTACAGATGTAACAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02647.hp1 HG02809.hp2 others(7): Show HG01928.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp2 NA19030.hp1 NA19043.hp2	a0000 a0001 a0000 a0001	a0000c0004 a0001c0001 a0000c0004 a0001c0001	a0000c0004t0002 a0001c0001t0002 a0000c0004t0002 a0001c0001t0002	a0000c0004t0002g0002 a0000c0004t0002g0010 a0001c0001t0002g0002 others(3): Show a0000c0004t0002g0002 a0000c0004t0002g0010 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0030	10	408	0.0245	23	c.-18 others(34): Show c.-1800_-1799insTGCTTGTTACAGATGTAACAACT	GTPBP3	ENSG00000130299.17	transcript	ENST00000324894.13	protein_coding		1740		chr19	TogoVar
GTPBP3_chr19_17332553_17347731	17335813	C C	TGCTTGTT others(16): Show TGCTTGTTACAGATGTAACAACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(99): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01167.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03942.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp2 NA18973.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19079.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0004 a0007	a0000c0004 a0001c0001 a0001c0006 others(4): Show a0000c0004 a0001c0001 a0001c0006 a0001c0016 a0002c0017 a0004c0018 a0007c0013	a0000c0004t0001 a0000c0004t0002 a0001c0001t0001 others(12): Show a0000c0004t0001 a0000c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0006t0001 a0001c0016t0002 a0002c0017t0003 a0004c0018t0017 a0007c0013t0002	a0000c0004t0001g0019 a0000c0004t0002g0002 a0000c0004t0002g0004 others(29): Show a0000c0004t0001g0019 a0000c0004t0002g0002 a0000c0004t0002g0004 a0000c0004t0002g0017 a0000c0004t0002g0035 a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0005g0002 a0001c0001t0006g0004 a0001c0001t0008g0004 a0001c0001t0010g0036 a0001c0001t0013g0004 a0001c0001t0016g0004 a0001c0006t0001g0004 a0001c0016t0002g0034 a0002c0017t0003g0037 a0004c0018t0017g0049 a0007c0013t0002g0021	102	408	0.2500	23	c.-17 others(33): Show c.-1799delCinsTGCTTGTTACAGATGTAACAACTA	GTPBP3	ENSG00000130299.17	transcript	ENST00000324894.13	protein_coding		1740		chr19	TogoVar
GTPBP6_chrX_299759_323796	317564	G G	GGGGTGGG others(16): Show GGGGTGGGGGTGGGGGTGGGGGGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	155	0.0065	23	c.350 others(38): Show c.350-514_350-513insACCCCCCACCCCCACCCCCACCC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	1/9			chrX	TogoVar
GUCA1C_chr3_108902792_108958879	108939324	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp1 HG02886.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0287 a0002c0002t0001g0262 a0002c0002t0001g0287	2	374	0.0054	23	c.204 others(42): Show c.204+14212_204+14234dupAAAAAAAAAAAAAAAAAAAAAAA	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108955590	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	374	0.0027	23	c.-18 others(34): Show c.-1829_-1828insTTTTTTTTTTTTTTTTTTTTTTT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding		1712		chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02258.hp2 HG02976.hp1 others(3): Show HG00544.hp1 HG02258.hp2 HG02976.hp1 HG03540.hp2 NA19064.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0005 a0001c0001t0009 a0001c0005t0009 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0005t0009 a0001c0006t0005 a0001c0007t0005	a0001c0001t0005g0027 a0001c0001t0009g0051 a0001c0001t0009g0052 others(3): Show a0001c0001t0005g0027 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0005t0009g0168 a0001c0006t0005g0210 a0001c0007t0005g0025	6	256	0.0234	23	c.199 others(44): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	256	0.0039	23	c.488 others(40): Show c.488-4038_488-4037insTTTTTTTTTTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUCY2D_chr17_7997615_8025342	8006170	A A	AGAGAGAG others(16): Show AGAGAGAGCCAATGGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19088.hp2 NA19002.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	2	432	0.0046	23	c.102 others(40): Show c.1027-192_1027-170dupGAGAGAGCCAATGGGGAGGGAGG	GUCY2D	ENSG00000132518.7	transcript	ENST00000254854.5	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01106.hp2 others(22): Show HG00673.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01257.hp1 HG01516.hp2 HG01928.hp1 HG02027.hp2 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG06807.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA19043.hp2 NA19057.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0027	a0001c0001t0002g0007 a0001c0001t0002g0210 a0001c0001t0002g0216 others(18): Show a0001c0001t0002g0007 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0244 a0001c0001t0002g0258 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0287 a0001c0001t0002g0303 a0001c0001t0005g0039 a0001c0001t0005g0278 a0001c0001t0005g0280 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0011g0035 a0001c0001t0011g0220 a0001c0001t0017g0204 a0001c0001t0017g0224 a0001c0001t0027g0007	25	414	0.0604	23	c.609 others(40): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTTTTTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYPE_chr4_143865864_143910559	143866541	T T	TTTCCACT others(16): Show TTTCCACTCCATCCCCTTTCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	2	398	0.0050	23	c.57 others(34): Show c.5720_*5721insGCTGGAAAGGGGATGGAGTGGAA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding		4322		chr4	TogoVar
GZMK_chr5_55019256_55039570	55022347	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG02135.hp2 NA18991.hp1 others(2): Show HG01070.hp1 HG02135.hp2 NA18991.hp1 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0095 others(1): Show a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0095 a0001c0002t0001g0039	5	464	0.0108	23	c.-19 others(34): Show c.-1976_-1975insCACACACACACACACACACACAC	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding		1908		chr5	TogoVar
GZMM_chr19_539053_554922	545099	A A	ATCCCTCC others(16): Show ATCCCTCCTTCCTCCCTCCCTTTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03669.hp1 HG01123.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0076 a0001c0002t0001g0176 a0001c0001t0001g0076 a0001c0002t0001g0176	2	398	0.0050	23	c.55+ others(36): Show c.55+985_55+986insCCCTCCCTTTGTCCCTCCTTCCT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
GZMM_chr19_539053_554922	545099	A A	ATCCCTCC others(16): Show ATCCCTCCTTCCTCCGTCCCTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02970.hp2 others(2): Show HG02486.hp1 HG02896.hp1 HG02970.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0096 a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0096	5	398	0.0126	23	c.55+ others(36): Show c.55+985_55+986insCCGTCCCTTTGTCCCTCCTTCCT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
H2AC18_chr1_149837218_149847750	149838427	C C	CACACACA others(16): Show CACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	23	c.38 others(34): Show c.3878_*3879insTGTGTGTGTGTGTGTGTGTGTGT	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		3790		chr1	TogoVar
H3-3B_chr17_75771434_75784779	75782239	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA20300.hp1 NA18981.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0006 a0001c0001t0002g0002 a0001c0001t0003g0006	2	432	0.0046	23	c.-26 others(34): Show c.-2616_-2594dupAAAAAAAAAAAAAAAAAAAAAAA	H3-3B	ENSG00000132475.10	transcript	ENST00000254810.8	protein_coding		2461		chr17	TogoVar
H3-3B_chr17_75771434_75784779	75784188	T T	TGGCAAAG others(16): Show TGGCAAAGGTAAATGAAGCGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	432	0.0023	23	c.-45 others(34): Show c.-4565_-4543dupGAGGCGCTTCATTTACCTTTGCC	H3-3B	ENSG00000132475.10	transcript	ENST00000254810.8	protein_coding		4410		chr17	TogoVar
H3C11_chr6_27866845_27877346	27875500	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	374	0.0054	23	c.-31 others(34): Show c.-3186_-3185insAAAAAAAAAAAAAAAAAAAAAAA	H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding		3155		chr6	TogoVar
H3C14_chr1_149835687_149846208	149838427	C C	CACACACA others(16): Show CACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	23	c.23 others(34): Show c.2319_*2320insTGTGTGTGTGTGTGTGTGTGTGT	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		2259		chr1	TogoVar
H4C12_chr6_27826174_27836560	27832868	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	23	c.-13 others(34): Show c.-1342_-1341insAAAAAAAAAAAAAAAAAAAAAAA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		1309		chr6	TogoVar
H4C13_chr6_27868148_27878534	27875500	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA19030.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	384	0.0052	23	c.-19 others(34): Show c.-1991_-1990insAAAAAAAAAAAAAAAAAAAAAAA	H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding		1967		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827830	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	23	c.-48 others(34): Show c.-4855_-4854insTTCTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4826		chr1	TogoVar
H4C14_chr1_149827657_149838052	149827834	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	23	c.-48 others(34): Show c.-4851_-4850insTTCTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4822		chr1	TogoVar
H4C14_chr1_149827657_149838052	149827865	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG00741.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	236	0.0085	23	c.-48 others(34): Show c.-4820_-4819insTTCTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4791		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031178	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	400	0.0025	23	c.-39 others(34): Show c.-3927_-3926insATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3896		chr6	TogoVar
H6PD_chr1_9229774_9276337	9237236	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0143 a0001c0003t0039g0143	1	404	0.0025	23	c.-11 others(40): Show c.-11+2174_-11+2196dupTTTTTTTTTTTTTTTTTTTTTTT	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
HACD2_chr3_123486554_123590053	123542146	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0073 a0001c0002t0005g0073	1	350	0.0029	23	c.293 others(42): Show c.293-13695_293-13673dupTTTTTTTTTTTTTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACE1_chr6_104723094_104864919	104793233	C C	CGAACCCC others(16): Show CGAACCCCTGCATTTGGCCAGGGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	346	0.0058	23	c.924 others(40): Show c.924-1580_924-1579insACCCTGGCCAAATGCAGGGGTTC	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	10/23			chr6	TogoVar
HACL1_chr3_15555699_15606569	15592005	T T	TATACGTA others(16): Show TATACGTATATATACACACACTAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	428	0.0023	23	c.228 others(38): Show c.228-348_228-326dupGTAGTGTGTGTATATATACGTAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HADHB_chr2_26239939_26295465	26285739	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp2 HG02965.hp2 HG01346.hp2 HG01358.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0134 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0134	3	290	0.0103	23	c.138 others(40): Show c.1389+186_1389+187insTTTTTTTTTTTTTTTTTTTTTTT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(16): Show ACACACACACACACCCCACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01109.hp1 HG01123.hp2 others(34): Show HG00423.hp1 HG01109.hp1 HG01123.hp2 HG01256.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02735.hp1 HG04204.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18954.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18991.hp2 NA19011.hp1 NA19055.hp2 NA19065.hp2 NA19077.hp1 NA19081.hp2 NA19083.hp1 NA19088.hp1 NA19090.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0008c0014t0011	a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0120 others(28): Show a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0011g0103 a0001c0001t0014g0030 a0008c0014t0011g0102	37	436	0.0849	23	c.-41 others(34): Show c.-4158_-4157insGGTGGGTGGGGTGTGTGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(16): Show ACACACACACACCCCCCACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	436	0.0023	23	c.-41 others(34): Show c.-4158_-4157insGGTGGGTGGGGGGTGTGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAP1_chr17_41717640_41739643	41730053	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAAGGA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0101 a0002c0002t0019g0101	1	374	0.0027	23	c.106 others(42): Show c.1069+1439_1069+1440insTCCTTCTCTCTCTCTCTCTCTCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAPLN2_chr1_156614415_156630725	156616672	G G	GTCCAAGG others(16): Show GTCCAAGGAGACAGGGGGCTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	23	c.-30 others(34): Show c.-3029_-3028insTCCAAGGAGACAGGGGGCTATTT	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding		2742		chr1	TogoVar
HAPLN2_chr1_156614415_156630725	156623033	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	418	0.0024	23	c.-24 others(38): Show c.-24-427_-24-426insAAAAAAAAAAAAAAAAAAAAAAA	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAPSTR1_chr16_9086644_9126635	9088603	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00673.hp2 others(24): Show HG00438.hp2 HG00544.hp2 HG00673.hp2 HG01071.hp2 HG02074.hp2 HG02148.hp1 HG02723.hp1 HG04199.hp1 NA18940.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp1 NA18967.hp2 NA18984.hp2 NA18990.hp2 NA18991.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19076.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 a0001c0001t0038 a0001c0001t0055 a0001c0001t0084	a0001c0001t0001g0153 a0001c0001t0003g0003 a0001c0001t0003g0038 others(18): Show a0001c0001t0001g0153 a0001c0001t0003g0003 a0001c0001t0003g0038 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0166 a0001c0001t0003g0172 a0001c0001t0005g0001 a0001c0001t0005g0104 a0001c0001t0005g0203 a0001c0001t0014g0022 a0001c0001t0014g0133 a0001c0001t0019g0003 a0001c0001t0038g0037 a0001c0001t0055g0171 a0001c0001t0084g0149	27	398	0.0678	23	c.-34 others(34): Show c.-3442_-3441insAAAAAAAAAAAAAAAAAAAAAAA	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		3040		chr16	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	326	0.0031	23	c.975 others(40): Show c.975+1250_975+1251insATATATATATATATTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977558	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	326	0.0031	23	c.975 others(40): Show c.975+1250_975+1251insATATATATATATATATATATATA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10			chr2	TogoVar
HAUS2_chr15_42543838_42574994	42544838	C C	CTATATAT others(16): Show CTATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02886.hp1 NA19240.hp1 HG02723.hp1 HG02886.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0010 a0001c0001t0003g0055 a0001c0001t0003g0056	3	350	0.0086	23	c.-40 others(34): Show c.-4035_-4034insTATATATATATATATATATATAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3999		chr15	TogoVar
HAUS7_chrX_153442668_153475576	153446332	T T	TCAATGCC others(16): Show TCAATGCCTCCCCCATGCTGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02572.hp1 others(12): Show HG01109.hp1 HG01934.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0010 a0003c0005 a0001c0002 a0001c0010 a0003c0005	a0001c0002t0001 a0001c0010t0001 a0003c0005t0001 a0001c0002t0001 a0001c0010t0001 a0003c0005t0001	a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0050 others(10): Show a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0085 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0169 a0001c0010t0001g0054 a0003c0005t0001g0161 a0003c0005t0001g0163 a0003c0005t0001g0172	15	321	0.0467	23	c.15 others(34): Show c.1523_*1545dupGCCCCAGCATGGGGGAGGCATTG	HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding		1335		chrX	TogoVar
HAVCR1_chr5_157024413_157064116	157044676	A A	AGAAGAAA others(16): Show AGAAGAAAGAAAGAAAGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	352	0.0028	23	c.782 others(40): Show c.782-1995_782-1994insCTCCCTCCTTTCTTTCTTTCTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAX1_chr1_154267629_154280875	154277332	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	23	c.16 others(34): Show c.1631_*1632insTATATATATATATATATATATAT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1458		chr1	TogoVar
HAX1_chr1_154267629_154280875	154277333	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	392	0.0026	23	c.16 others(34): Show c.1632_*1633insATATATATATATATATATATATA	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1459		chr1	TogoVar
HBQ1_chr16_175459_186179	181990	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	384	0.0026	23	c.88 others(32): Show c.882_*883insCACACACACACACACACACACAC	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		812		chr16	TogoVar
HCAR2_chr12_122696293_122708357	122704416	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG03486.hp1 others(9): Show HG01257.hp2 HG01258.hp2 HG03486.hp1 NA18940.hp2 NA18948.hp1 NA18961.hp2 NA18967.hp2 NA18993.hp2 NA19062.hp2 NA19078.hp2 NA19084.hp2 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0001c0001t0011 a0006c0007t0002 a0001c0001t0002 a0001c0001t0011 a0006c0007t0002	a0001c0001t0002g0000 a0001c0001t0011g0000 a0006c0007t0002g0000 a0001c0001t0002g0000 a0001c0001t0011g0000 a0006c0007t0002g0000	12	428	0.0280	23	c.-11 others(34): Show c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		1060		chr12	TogoVar
HCK_chr20_32047242_32106856	32066331	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	290	0.0035	23	c.63- others(38): Show c.63-5331_63-5330insTTTTTTTTTTTTTTTTTTTTTGA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12			chr20	TogoVar
HCK_chr20_32047242_32106856	32094700	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	290	0.0035	23	c.124 others(40): Show c.1246+686_1246+687insGAAAGAAAGAAAGAAAGAAAGAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32099350	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	290	0.0035	23	c.137 others(40): Show c.1378+218_1378+240dupTTTTTTTTTTTTTTTTTTTTTTT	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr20	TogoVar

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