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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
HTR1E_chr6_86932528_87021679	86958937	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	300	0.0033	-16	c.-18 others(37): Show c.-186+21145_-186+21160delGTGTGTGTGTGTGTGT	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
HTR1E_chr6_86932528_87021679	86995672	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02683.hp2 NA18906.hp1 others(1): Show HG01071.hp2 HG02683.hp2 NA18906.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0257 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0257 a0001c0001t0001g0262	4	300	0.0133	-16	c.-18 others(37): Show c.-185-19462_-185-19447delGAAAAAAAAAAAAAAA	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
HTR1F_chr3_87787706_87998839	87791780	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	250	0.0040	-16	c.-12 others(27): Show c.-1221_-1206delAAATAAATAAATAAAT	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding		925		chr3	TogoVar
HTR1F_chr3_87787706_87998839	87794982	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18966.hp2 HG00140.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0052 a0001c0001t0002g0006 a0001c0001t0002g0052	2	250	0.0080	-16	c.-16 others(35): Show c.-160+2153_-160+2168delTTTTTTTTTTTTTTTT	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR1F_chr3_87787706_87998839	87869390	CAGATAGA others(9): Show CAGATAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	250	0.0040	-16	c.-43 others(35): Show c.-43+47296_-43+47311delGATAGATAGATAGATA	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR1F_chr3_87787706_87998839	87979025	AGGGAGGG others(9): Show AGGGAGGGAGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01175.hp2 HG01891.hp1 others(23): Show HG00423.hp2 HG01175.hp2 HG01891.hp1 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG04184.hp2 NA18989.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0002c0003t0005	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0200 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0003g0086 a0001c0001t0003g0151 a0001c0001t0004g0055 a0001c0001t0004g0120 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0181 a0001c0001t0004g0194 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0238 a0001c0001t0005g0247 a0001c0001t0006g0100 a0001c0001t0006g0116 a0001c0001t0013g0246 a0002c0003t0005g0056	26	250	0.1040	-16	c.-42 others(35): Show c.-42-11667_-42-11652delGGGGAGGGAGGGAGGG	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR1F_chr3_87787706_87998839	87979117	AAGGGAGG others(9): Show AAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp1 HG03209.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0125 a0001c0001t0002g0137	2	250	0.0080	-16	c.-42 others(35): Show c.-42-11576_-42-11561delGGAGGGAGGGAGGGAG	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR2C_chrX_114579086_114915061	114694434	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	176	0.0057	-16	c.-79 others(35): Show c.-79-32380_-79-32365delTATATATATATATATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114698464	ACACACAC others(9): Show ACACACACACAAACACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00609.hp1 others(32): Show HG00099.hp2 HG00140.hp1 HG00609.hp1 HG00642.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01256.hp1 HG01928.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03239.hp1 HG03486.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 NA18747.hp1 NA18952.hp1 NA18994.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014	a0001c0001t0001g0092 a0001c0001t0002g0004 a0001c0001t0002g0006 others(32): Show a0001c0001t0001g0092 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0005g0056 a0001c0001t0005g0058 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0021 a0001c0001t0009g0020 a0001c0001t0016g0121 a0001c0001t0017g0112 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0027 a0002c0002t0005g0055 a0002c0002t0007g0057 a0002c0002t0011g0002 a0002c0002t0012g0003 a0002c0002t0014g0140	35	176	0.1989	-16	c.-79 others(35): Show c.-79-28383_-79-28368delAACACGCACACACACA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114764865	ATCTTTCT others(9): Show ATCTTTCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp2 NA19043.hp1 HG01109.hp1 HG02559.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0002c0002t0007 a0001c0001t0005 a0002c0002t0002 a0002c0002t0007	a0001c0001t0005g0058 a0002c0002t0002g0034 a0002c0002t0007g0057 a0001c0001t0005g0058 a0002c0002t0002g0034 a0002c0002t0007g0057	3	176	0.0171	-16	c.349 others(35): Show c.349+33304_349+33319delCTTTCTTTCTTTCTTT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114764921	TTCTTTTC others(9): Show TTCTTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02145.hp1 HG02922.hp1 others(4): Show HG01928.hp1 HG02145.hp1 HG02922.hp1 HG03225.hp1 HG03239.hp2 HG03492.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0011 a0001c0001t0001 a0001c0001t0002 a0002c0002t0011	a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0171 others(4): Show a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0002g0026 a0001c0001t0002g0052 a0002c0002t0011g0002	7	176	0.0398	-16	c.349 others(35): Show c.349+33316_349+33331delCTTTTCCTTCCTTCCT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114793487	TTCAAATA others(9): Show TTCAAATAGTTTTCAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01106.hp1 others(18): Show HG00639.hp1 HG01074.hp1 HG01106.hp1 HG01243.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA19043.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0020	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0143 others(18): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0004 a0001c0001t0002g0006 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0159 a0002c0002t0001g0163 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0020g0142	21	176	0.1193	-16	c.350 others(35): Show c.350-54506_350-54491delTTTCAAATCAAATAGT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR4_chr5_148476547_148659527	148483934	ATTATTTA others(9): Show ATTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02895.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0253 others(1): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0253 a0001c0001t0001g0295	4	310	0.0129	-16	c.107 others(33): Show c.1077-657_1077-642delATAAATAAATAAATAA	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding	6/6			chr5	TogoVar
HTR5A_chr7_155065324_155092392	155091909	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0056 a0001c0011t0009g0056	1	430	0.0023	-16	c.74 others(27): Show c.7423_*7438delTGTGTGTGTGTGTGTG	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding		4518		chr7	TogoVar
HTR6_chr1_19659875_19685966	19662601	TTTTTTTT others(9): Show TTTTTTTTGTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	400	0.0025	-16	c.-31 others(27): Show c.-3152_-3137delTTTTTTTGTTTTTTTG	HTR6	ENSG00000158748.4	transcript	ENST00000289753.2	protein_coding		2273		chr1	TogoVar
HTR7_chr10_90735823_90863039	90799338	CATGAATG others(9): Show CATGAATGAATGAATGA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02559.hp1 HG02630.hp2 others(1): Show HG01346.hp1 HG02559.hp1 HG02630.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0206 others(1): Show a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0009g0397	4	404	0.0099	-16	c.540 others(35): Show c.540-49760_540-49745delTCATTCATTCATTCAT	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	1/3			chr10	TogoVar
HTR7_chr10_90735823_90863039	90844725	TCAAAAAA others(9): Show TCAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00673.hp2 others(33): Show HG00423.hp2 HG00609.hp2 HG00673.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02698.hp1 HG03130.hp2 HG03225.hp2 HG04204.hp2 NA18906.hp2 NA18944.hp1 NA18950.hp1 NA18973.hp2 NA18981.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0029	a0001c0001t0002g0371 a0001c0001t0002g0378 a0001c0001t0002g0379 others(33): Show a0001c0001t0002g0371 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0382 a0001c0001t0005g0336 a0001c0001t0005g0342 a0001c0001t0005g0344 a0001c0001t0005g0347 a0001c0001t0005g0348 a0001c0001t0005g0349 a0001c0001t0005g0350 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0360 a0001c0001t0005g0364 a0001c0001t0005g0365 a0001c0001t0005g0368 a0001c0001t0005g0373 a0001c0001t0005g0374 a0001c0001t0005g0375 a0001c0001t0005g0376 a0001c0001t0006g0042 a0001c0001t0011g0317 a0001c0001t0011g0366 a0001c0001t0014g0281 a0001c0001t0014g0355 a0001c0001t0014g0363 a0001c0001t0029g0343	36	404	0.0891	-16	c.539 others(35): Show c.539+12392_539+12407delTTTTTTTTTTTTTTTG	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	1/3			chr10	TogoVar
HTR7_chr10_90735823_90863039	90844726	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0389 a0001c0001t0031g0389	1	404	0.0025	-16	c.539 others(35): Show c.539+12391_539+12406delTTTTTTTTTTTTTTTT	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	1/3			chr10	TogoVar
HTRA1_chr10_122456553_122519907	122496224	GGTTCTTT others(9): Show GGTTCTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	2	362	0.0055	-16	c.777 others(33): Show c.777+6599_777+6614delGTTCTTTTTTTTTTTT	HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding	3/8			chr10	TogoVar
HTRA1_chr10_122456553_122519907	122496225	GTTCTTTT others(9): Show GTTCTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0303 a0001c0002t0001g0220 a0001c0001t0001g0303 a0001c0002t0001g0220	2	362	0.0055	-16	c.777 others(33): Show c.777+6602_777+6617delCTTTTTTTTTTTTTTT	HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
HTRA3_chr4_8264754_8312098	8288883	TTCCTTCC others(9): Show TTCCTTCCTTCCGTCCG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20129.hp1 HG03195.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0262 a0001c0001t0001g0163 a0001c0001t0001g0262	2	388	0.0052	-16	c.708 others(33): Show c.708+2112_708+2127delGTCCGTCCTTCCTTCC	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8297440	GCCAGAGG others(9): Show GCCAGAGGTCCTGCCCT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	388	0.0026	-16	c.105 others(35): Show c.1051+3242_1051+3257delAGAGGTCCTGCCCTCC	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3083530	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02615.hp2 others(6): Show HG01167.hp1 HG01243.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 NA21309.hp1	a0007 a0009 a0014 others(4): Show a0007 a0009 a0014 a0022 a0069 a0075 a0090	a0007c0058 a0009c0059 a0014c0014 others(4): Show a0007c0058 a0009c0059 a0014c0014 a0022c0023 a0069c0093 a0075c0094 a0090c0126	a0007c0058t0033 a0009c0059t0001 a0014c0014t0003 others(4): Show a0007c0058t0033 a0009c0059t0001 a0014c0014t0003 a0022c0023t0003 a0069c0093t0003 a0075c0094t0003 a0090c0126t0003	a0007c0058t0033g0009 a0009c0059t0001g0054 a0014c0014t0003g0014 others(6): Show a0007c0058t0033g0009 a0009c0059t0001g0054 a0014c0014t0003g0014 a0014c0014t0003g0015 a0014c0014t0003g0021 a0022c0023t0003g0013 a0069c0093t0003g0020 a0075c0094t0003g0064 a0090c0126t0003g0018	9	294	0.0306	-16	c.264 others(33): Show c.264-3367_264-3352delCACACACACACACACA	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUNK_chr21_31868020_32009064	31869153	GGTGTGTG others(9): Show GGTGTGTGTGGGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02055.hp1 HG02258.hp1 others(2): Show HG00733.hp1 HG02055.hp1 HG02258.hp1 HG02723.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0005 a0001c0002t0045 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0045 a0001c0004t0055	a0001c0001t0001g0161 a0001c0001t0001g0195 a0001c0002t0005g0203 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0195 a0001c0002t0005g0203 a0001c0002t0045g0194 a0001c0004t0055g0204	5	328	0.0152	-16	c.-45 others(27): Show c.-4521_-4506delGTGTGTGTGGGTGTGT	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding		3866		chr21	TogoVar
HUNK_chr21_31868020_32009064	31917691	AACATACA others(9): Show AACATACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0085 a0001c0007t0005g0085	1	328	0.0031	-16	c.262 others(33): Show c.262-6773_262-6758delTACACACACACACACA	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUWE1_chrX_53527096_53691719	53645734	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	214	0.0047	-16	c.352 others(31): Show c.352-287_352-272delATATATATATATATTT	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	6/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53688966	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01978.hp1 others(9): Show HG00280.hp1 HG00323.hp2 HG01978.hp1 HG03239.hp1 HG03490.hp1 HG04228.hp1 NA18948.hp1 NA18962.hp1 NA18977.hp1 NA18983.hp1 NA19067.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0104 others(9): Show a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0003g0052 a0001c0001t0004g0190 a0001c0001t0004g0207 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0156 a0001c0002t0002g0175 a0001c0003t0002g0132 a0001c0003t0002g0140	12	214	0.0561	-16	c.-26 others(27): Show c.-2656_-2641delGAAAGAAAGAAAGAAA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding		2248		chrX	TogoVar
HVCN1_chr12_110643686_110694115	110678439	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG00738.hp2 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0190 a0002c0002t0001g0014 a0002c0002t0001g0190	2	210	0.0095	-16	c.21+ others(31): Show c.21+4770_21+4785delAAAAAAAAAAAAAAAA	HVCN1	ENSG00000122986.14	transcript	ENST00000242607.13	protein_coding	3/7			chr12	TogoVar
HYAL4_chr7_123840169_123882481	123857669	GTTTCTTT others(9): Show GTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG04228.hp1 HG02922.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0117 a0001c0001t0001g0091 a0001c0001t0001g0117	2	394	0.0051	-16	c.-52 others(33): Show c.-52+9560_-52+9575delTTTCTTTCTTTCTTTC	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
HYCC1_chr7_22929211_23019130	22940236	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0078 a0001c0001t0064g0078	1	386	0.0026	-16	c.53 others(27): Show c.5337_*5352delAAAAAAAAAAAAAAAA	HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding	11/11	5337		chr7	TogoVar
HYCC1_chr7_22929211_23019130	22989285	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(196): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0005 others(1): Show a0001c0001 a0001c0002 a0004c0005 a0005c0008	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(50): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0026 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0082 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0018 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0033 a0001c0002t0034 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0084 a0001c0002t0085 a0001c0002t0088 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0095 a0001c0002t0096 a0001c0002t0097 a0001c0002t0098 a0001c0002t0099 a0001c0002t0100 a0001c0002t0101 a0001c0002t0102 a0001c0002t0103 a0001c0002t0104 a0001c0002t0105 a0001c0002t0106 a0001c0002t0107 a0001c0002t0110 a0001c0002t0111 a0001c0002t0112 a0001c0002t0113 a0004c0005t0001 a0005c0008t0008	a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 others(166): Show a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0046 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0004g0319 a0001c0001t0004g0323 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0007g0221 a0001c0001t0008g0021 a0001c0001t0008g0023 a0001c0001t0008g0315 a0001c0001t0008g0318 a0001c0001t0008g0320 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0324 a0001c0001t0008g0325 a0001c0001t0008g0326 a0001c0001t0008g0333 a0001c0001t0010g0003 a0001c0001t0010g0005 a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0312 a0001c0001t0016g0171 a0001c0001t0026g0317 a0001c0001t0026g0327 a0001c0001t0049g0310 a0001c0001t0050g0328 a0001c0001t0051g0329 a0001c0001t0052g0311 a0001c0001t0082g0188 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0226 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0005g0019 a0001c0002t0005g0024 a0001c0002t0005g0030 a0001c0002t0005g0272 a0001c0002t0005g0273 a0001c0002t0005g0275 a0001c0002t0005g0276 a0001c0002t0005g0277 a0001c0002t0005g0278 a0001c0002t0005g0279 a0001c0002t0005g0281 a0001c0002t0005g0282 a0001c0002t0005g0284 a0001c0002t0005g0286 a0001c0002t0005g0287 a0001c0002t0005g0288 a0001c0002t0005g0289 a0001c0002t0005g0290 a0001c0002t0005g0291 a0001c0002t0005g0292 a0001c0002t0005g0294 a0001c0002t0005g0302 a0001c0002t0007g0006 a0001c0002t0007g0204 a0001c0002t0007g0206 a0001c0002t0007g0207 a0001c0002t0007g0209 a0001c0002t0007g0210 a0001c0002t0007g0212 a0001c0002t0007g0214 a0001c0002t0007g0215 a0001c0002t0007g0216 a0001c0002t0007g0217 a0001c0002t0007g0219 a0001c0002t0007g0220 a0001c0002t0007g0223 a0001c0002t0007g0309 a0001c0002t0011g0018 a0001c0002t0011g0230 a0001c0002t0011g0235 a0001c0002t0011g0262 a0001c0002t0011g0264 a0001c0002t0011g0265 a0001c0002t0011g0267 a0001c0002t0011g0299 a0001c0002t0011g0301 a0001c0002t0012g0189 a0001c0002t0012g0190 a0001c0002t0012g0191 a0001c0002t0012g0194 a0001c0002t0012g0198 a0001c0002t0012g0200 a0001c0002t0012g0201 a0001c0002t0012g0295 a0001c0002t0012g0296 a0001c0002t0018g0015 a0001c0002t0018g0211 a0001c0002t0018g0224 a0001c0002t0021g0192 a0001c0002t0021g0233 a0001c0002t0021g0261 a0001c0002t0022g0263 a0001c0002t0022g0268 a0001c0002t0022g0300 a0001c0002t0023g0014 a0001c0002t0023g0222 a0001c0002t0033g0229 a0001c0002t0033g0303 a0001c0002t0034g0057 a0001c0002t0034g0305 a0001c0002t0037g0274 a0001c0002t0037g0298 a0001c0002t0038g0283 a0001c0002t0038g0285 a0001c0002t0039g0017 a0001c0002t0040g0228 a0001c0002t0040g0254 a0001c0002t0041g0243 a0001c0002t0041g0249 a0001c0002t0084g0260 a0001c0002t0085g0197 a0001c0002t0088g0208 a0001c0002t0089g0266 a0001c0002t0090g0199 a0001c0002t0091g0259 a0001c0002t0092g0056 a0001c0002t0095g0227 a0001c0002t0096g0232 a0001c0002t0097g0195 a0001c0002t0098g0193 a0001c0002t0099g0269 a0001c0002t0100g0218 a0001c0002t0101g0205 a0001c0002t0102g0213 a0001c0002t0103g0280 a0001c0002t0104g0293 a0001c0002t0105g0035 a0001c0002t0106g0034 a0001c0002t0107g0225 a0001c0002t0110g0239 a0001c0002t0111g0247 a0001c0002t0112g0304 a0001c0002t0113g0346 a0004c0005t0001g0016 a0005c0008t0008g0045	199	386	0.5155	-16	c.51+ others(31): Show c.51+1760_51+1775delGTGTGTGTGTGTGTGT	HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding	2/10			chr7	TogoVar
HYCC1_chr7_22929211_23019130	23002161	TATATATA others(9): Show TATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA21309.hp2 HG01891.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0070 a0001c0001t0013g0133 a0001c0001t0013g0070 a0001c0001t0013g0133	2	386	0.0052	-16	c.-28 others(35): Show c.-28-11038_-28-11023delGTATATATATATATAT	HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding	1/10			chr7	TogoVar
HYCC2_chr2_200968718_201076671	201033149	ATGTGTGT others(9): Show ATGTGTGTGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	176	0.0057	-16	c.-30 others(33): Show c.-30-9126_-30-9111delCACACATACACACACA	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	2/12			chr2	TogoVar
HYCC2_chr2_200968718_201076671	201069543	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18747.hp1 HG02055.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0136 a0001c0001t0023g0137 a0001c0001t0001g0136 a0001c0001t0023g0137	2	176	0.0114	-16	c.-12 others(35): Show c.-129+2051_-129+2066delGTGTGTGTGTGTGTGT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYDIN_chr16_70797084_71235722	70826705	ATCTCTCT others(9): Show ATCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0041 a0041	a0041c0089 a0041c0089	a0041c0089t0005 a0041c0089t0005	a0041c0089t0005g0118 a0041c0089t0005g0118	1	174	0.0058	-16	c.144 others(35): Show c.14427+540_14427+555delGAGAGAGAGAGAGAGA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	83/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70847265	CTAATACA others(9): Show CTAATACAGATTTATAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0103 a0001c0001t0026g0103	1	174	0.0058	-16	c.128 others(37): Show c.12873+2445_12873+2460delCTATAAATCTGTATTA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	75/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70864330	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03098.hp1 HG03225.hp1 others(3): Show HG00639.hp1 HG03098.hp1 HG03225.hp1 NA18612.hp1 NA18962.hp1 NA19001.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0007	a0002c0064 a0004c0006 a0006c0012 others(1): Show a0002c0064 a0004c0006 a0006c0012 a0007c0007	a0002c0064t0001 a0004c0006t0004 a0004c0006t0024 others(2): Show a0002c0064t0001 a0004c0006t0004 a0004c0006t0024 a0006c0012t0003 a0007c0007t0007	a0002c0064t0001g0078 a0004c0006t0004g0056 a0004c0006t0024g0053 others(3): Show a0002c0064t0001g0078 a0004c0006t0004g0056 a0004c0006t0024g0053 a0006c0012t0003g0159 a0007c0007t0007g0167 a0007c0007t0007g0170	6	174	0.0345	-16	c.114 others(37): Show c.11472-1164_11472-1149delTTTTTTTTTTTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	67/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70872371	TATCCATC others(9): Show TATCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02622.hp1 others(7): Show HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03579.hp2 NA19030.hp2 NA20129.hp2	a0002 a0015 a0029 a0002 a0015 a0029	a0002c0010 a0002c0017 a0002c0021 others(2): Show a0002c0010 a0002c0017 a0002c0021 a0015c0019 a0029c0068	a0002c0010t0003 a0002c0010t0017 a0002c0017t0001 others(3): Show a0002c0010t0003 a0002c0010t0017 a0002c0017t0001 a0002c0021t0001 a0015c0019t0001 a0029c0068t0001	a0002c0010t0003g0158 a0002c0010t0017g0149 a0002c0010t0017g0150 others(7): Show a0002c0010t0003g0158 a0002c0010t0017g0149 a0002c0010t0017g0150 a0002c0017t0001g0039 a0002c0017t0001g0069 a0002c0021t0001g0073 a0002c0021t0001g0093 a0015c0019t0001g0038 a0015c0019t0001g0121 a0029c0068t0001g0071	10	174	0.0575	-16	c.109 others(35): Show c.10949-208_10949-193delGGATGGATGGATGGAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	64/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904478	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02280.hp1 others(5): Show HG01243.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02886.hp1 HG03098.hp2 NA18906.hp1 NA20300.hp1	a0003 a0034 a0041 a0003 a0034 a0041	a0003c0004 a0003c0022 a0003c0055 others(2): Show a0003c0004 a0003c0022 a0003c0055 a0034c0071 a0041c0089	a0003c0004t0005 a0003c0004t0012 a0003c0022t0005 others(3): Show a0003c0004t0005 a0003c0004t0012 a0003c0022t0005 a0003c0055t0032 a0034c0071t0012 a0041c0089t0005	a0003c0004t0005g0023 a0003c0004t0005g0033 a0003c0004t0005g0036 others(5): Show a0003c0004t0005g0023 a0003c0004t0005g0033 a0003c0004t0005g0036 a0003c0004t0012g0032 a0003c0022t0005g0040 a0003c0055t0032g0141 a0034c0071t0012g0130 a0041c0089t0005g0118	8	174	0.0460	-16	c.851 others(33): Show c.8517-430_8517-415delAAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70937123	GGTGTGTG others(9): Show GGTGTGTGTGTGTGCAT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0021 a0004c0032t0021	a0004c0032t0021g0062 a0004c0032t0021g0062	1	174	0.0058	-16	c.699 others(35): Show c.6996-1025_6996-1010delATGCACACACACACAC	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	44/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71061861	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp2 others(55): Show HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01952.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18953.hp1 NA18960.hp2 NA18969.hp2 NA18978.hp2 NA19004.hp2 NA19010.hp1 NA19043.hp1 NA19066.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0006 a0010 a0015 a0016 a0019 a0020 a0021 a0022 a0026 a0030 a0031 a0034 a0036 a0038 a0039	a0001c0001 a0001c0002 a0001c0038 others(25): Show a0001c0001 a0001c0002 a0001c0038 a0001c0048 a0001c0062 a0001c0072 a0001c0073 a0001c0077 a0001c0078 a0002c0005 a0002c0011 a0003c0008 a0003c0014 a0006c0012 a0010c0035 a0015c0019 a0016c0023 a0019c0024 a0020c0030 a0021c0025 a0022c0026 a0026c0067 a0030c0069 a0031c0070 a0034c0071 a0036c0075 a0038c0080 a0039c0086	a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 others(29): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0038t0034 a0001c0048t0003 a0001c0062t0013 a0001c0072t0023 a0001c0073t0009 a0001c0077t0004 a0001c0078t0001 a0002c0005t0001 a0002c0011t0004 a0003c0008t0008 a0003c0014t0016 a0006c0012t0001 a0006c0012t0003 a0010c0035t0001 a0015c0019t0001 a0016c0023t0009 a0019c0024t0001 a0020c0030t0001 a0021c0025t0001 a0022c0026t0001 a0026c0067t0004 a0030c0069t0013 a0031c0070t0001 a0034c0071t0012 a0036c0075t0010 a0038c0080t0001 a0039c0086t0038	a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0082 others(55): Show a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0025g0106 a0001c0001t0028g0077 a0001c0002t0001g0129 a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0038t0034g0164 a0001c0048t0003g0139 a0001c0062t0013g0104 a0001c0072t0023g0022 a0001c0073t0009g0123 a0001c0077t0004g0132 a0001c0078t0001g0095 a0002c0005t0001g0088 a0002c0005t0001g0099 a0002c0005t0001g0133 a0002c0011t0004g0087 a0003c0008t0008g0122 a0003c0008t0008g0124 a0003c0008t0008g0125 a0003c0008t0008g0126 a0003c0014t0016g0154 a0003c0014t0016g0169 a0006c0012t0001g0037 a0006c0012t0003g0159 a0010c0035t0001g0054 a0015c0019t0001g0121 a0016c0023t0009g0044 a0016c0023t0009g0045 a0019c0024t0001g0058 a0020c0030t0001g0059 a0021c0025t0001g0060 a0022c0026t0001g0057 a0026c0067t0004g0076 a0030c0069t0013g0068 a0031c0070t0001g0042 a0034c0071t0012g0130 a0036c0075t0010g0075 a0038c0080t0001g0102 a0039c0086t0038g0174	58	174	0.3333	-16	c.237 others(33): Show c.2376+292_2376+307delACACACACACACACAC	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	17/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71119959	TATTACTC others(9): Show TATTACTCAGTTCTAAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0039 a0039	a0039c0086 a0039c0086	a0039c0086t0038 a0039c0086t0038	a0039c0086t0038g0174 a0039c0086t0038g0174	1	174	0.0058	-16	c.122 others(35): Show c.1228-4180_1228-4165delGTTAGAACTGAGTAAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	9/85			chr16	TogoVar
HYOU1_chr11_119039188_119062205	119050719	CCAAAAAA others(9): Show CCAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp2 HG02572.hp1 others(4): Show HG01099.hp2 HG02257.hp2 HG02572.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0111 a0001c0002t0006g0011 a0001c0002t0006g0111	7	414	0.0169	-16	c.166 others(33): Show c.1665+300_1665+315delTTTTTTTTTTTTTTTG	HYOU1	ENSG00000149428.21	transcript	ENST00000617285.5	protein_coding	14/25			chr11	TogoVar
IAH1_chr2_9469551_9494742	9487821	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0102 a0001c0001t0067g0102	1	342	0.0029	-16	c.565 others(31): Show c.565-324_565-309delTGTGTGTGTGTGCGCG	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
IAH1_chr2_9469551_9494742	9487823	TGTGTGTG others(9): Show TGTGTGTGTGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 NA20905.hp1 HG02615.hp2 HG02976.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0069 a0001c0001t0011g0065 a0001c0001t0011g0234 a0001c0001t0002g0069 a0001c0001t0011g0065 a0001c0001t0011g0234	3	342	0.0088	-16	c.565 others(31): Show c.565-322_565-307delTGTGTGTGTGCGCGCG	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
IARS1_chr9_92205207_92298697	92220240	GGGGAATA others(9): Show GGGGAATATCACACTCT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp2 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0102 a0001c0001t0010g0101 a0001c0001t0001g0102 a0001c0001t0010g0101	2	338	0.0059	-16	c.370 others(35): Show c.3706+2264_3706+2279delAGAGTGTGATATTCCC	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	33/33			chr9	TogoVar
IARS2_chr1_220089132_220153041	220090911	CATATATA others(9): Show CATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02145.hp1 HG02451.hp2 others(10): Show HG02056.hp1 HG02145.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0261 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0289	13	366	0.0355	-16	c.-33 others(27): Show c.-3305_-3290delATATATATATATATAT	IARS2	ENSG00000067704.10	transcript	ENST00000366922.3	protein_coding		3220		chr1	TogoVar
IBA57_chr1_228160804_228187257	228174111	GGCTGTGG others(9): Show GGCTGTGGGCGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0214 a0001c0001t0110g0214	1	416	0.0024	-16	c.342 others(31): Show c.342-196_342-181delGCTGTGGGCGTGGCTC	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174496	GCTGTGGG others(9): Show GCTGTGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18987.hp1 HG02486.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0049 a0001c0004t0143 a0001c0001t0049 a0001c0004t0143	a0001c0001t0049g0227 a0001c0004t0143g0190 a0001c0001t0049g0227 a0001c0004t0143g0190	2	416	0.0048	-16	c.342 others(31): Show c.342-192_342-177delTGGGCGTGGCTCCCTG	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBSP_chr4_87794554_87817435	87801481	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02109.hp1 others(11): Show HG01109.hp2 HG02055.hp1 HG02109.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG06807.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0003 a0006c0006 a0007c0007 a0003c0003 a0006c0006 a0007c0007	a0003c0003t0001 a0006c0006t0001 a0007c0007t0003 a0003c0003t0001 a0006c0006t0001 a0007c0007t0003	a0003c0003t0001g0008 a0006c0006t0001g0048 a0007c0007t0003g0049 a0003c0003t0001g0008 a0006c0006t0001g0048 a0007c0007t0003g0049	14	454	0.0308	-16	c.-14 others(31): Show c.-14-848_-14-833delACACACACACACACAC	IBSP	ENSG00000029559.7	transcript	ENST00000226284.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar

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