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
HEXD_chr17_82413347_82447645	82433077	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	400	0.0025	11	c.283 others(26): Show c.283-576_283-566dupAAAAAAAAAAA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	400	0.0025	11	c.283 others(26): Show c.283-566_283-565insAAAAAAATATA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	400	0.0025	11	c.283 others(26): Show c.283-566_283-565insATATATATATA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXIM1_chr17_45143475_45157099	45154526	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	442	0.0023	11	c.42 others(22): Show c.4256_*4257insAAAAAAAAAAA	HEXIM1	ENSG00000186834.4	transcript	ENST00000332499.4	protein_coding		2428		chr17	TogoVar
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	362	0.0028	11	c.397 others(30): Show c.3974+1645_3974+1655dupAAAAAAAAAAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91364632	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	362	0.0028	11	c.168 others(32): Show c.1685+10725_1685+10726insAAAAAAATATA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	13/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91408662	C C	CCTTCCTT others(4): Show CCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0188 a0004c0006t0001g0188	1	362	0.0028	11	c.-38 others(22): Show c.-3893_-3892insAAAGAAGGAAG	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding		3826		chr1	TogoVar
HFM1_chr1_91255766_91409837	91408671	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	362	0.0028	11	c.-39 others(22): Show c.-3902_-3901insGAAAGAAAGAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding		3835		chr1	TogoVar
HGD_chr3_120623172_120687239	120630798	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0325 a0002c0002t0001g0325	1	374	0.0027	11	c.118 others(30): Show c.1189-2270_1189-2269insTATATATATAT	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGD_chr3_120623172_120687239	120642544	T T	TGACATAT others(4): Show TGACATATAGTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	374	0.0027	11	c.775 others(26): Show c.775-862_775-852dupCACTATATGTC	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	10/13			chr3	TogoVar
HGF_chr7_81694010_81775047	81736894	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04204.hp2 HG04184.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0057 a0001c0001t0001g0017 a0001c0001t0001g0057	2	272	0.0074	11	c.865 others(28): Show c.865+6458_865+6459insACACACACACA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding	7/17			chr7	TogoVar
HGSNAT_chr8_43135464_43207855	43148323	T T	TATTTATA others(4): Show TATTTATATTTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG03139.hp1 others(1): Show HG02615.hp1 HG02886.hp1 HG03139.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0008 a0003c0003t0004 a0001c0001t0002 a0001c0001t0008 a0003c0003t0004	a0001c0001t0002g0190 a0001c0001t0008g0168 a0001c0001t0008g0169 others(1): Show a0001c0001t0002g0190 a0001c0001t0008g0168 a0001c0001t0008g0169 a0003c0003t0004g0191	4	234	0.0171	11	c.234 others(28): Show c.234+1270_234+1280dupTAATTTATATT	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43178655	T T	TTCTCGCA others(4): Show TTCTCGCAGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02896.hp1 HG03139.hp1 others(4): Show HG01192.hp2 HG02896.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0010 a0003c0003t0004 a0003c0003t0010	a0003c0003t0004g0191 a0003c0003t0004g0216 a0003c0003t0004g0217 others(4): Show a0003c0003t0004g0191 a0003c0003t0004g0216 a0003c0003t0004g0217 a0003c0003t0004g0218 a0003c0003t0004g0219 a0003c0003t0004g0221 a0003c0003t0010g0220	7	234	0.0299	11	c.101 others(28): Show c.1012+421_1012+422insTCTCGCAGAGG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17			chr8	TogoVar
HHAT_chr1_210323902_210681290	210326117	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02258.hp2 HG02970.hp1 others(1): Show HG00642.hp2 HG02258.hp2 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0012	a0001c0001t0004g0210 a0001c0001t0006g0001 a0001c0001t0007g0012 others(1): Show a0001c0001t0004g0210 a0001c0001t0006g0001 a0001c0001t0007g0012 a0001c0002t0012g0068	4	268	0.0149	11	c.-30 others(22): Show c.-3031_-3030insTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		2784		chr1	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01255.hp1 HG03492.hp1 HG00597.hp1 HG01255.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 a0001c0001t0001 a0001c0001t0006 a0001c0002t0004	a0001c0001t0001g0233 a0001c0001t0006g0066 a0001c0002t0004g0085 a0001c0001t0001g0233 a0001c0001t0006g0066 a0001c0002t0004g0085	3	268	0.0112	11	c.-44 others(28): Show c.-44+5084_-44+5094dupTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210336287	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	268	0.0037	11	c.-44 others(28): Show c.-44+7196_-44+7206dupTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210386230	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0199 a0001c0002t0004g0199	1	268	0.0037	11	c.160 others(28): Show c.160-1222_160-1212dupTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210452758	T T	TATGGTAA others(4): Show TATGGTAAATCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19086.hp1 HG02074.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0228 a0001c0002t0002g0053 a0001c0002t0001g0228 a0001c0002t0002g0053	2	268	0.0075	11	c.857 others(30): Show c.857-11734_857-11724dupTGGTAAATCCA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210491177	G G	GTTCAAGC others(4): Show GTTCAAGCCTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01069.hp1 others(13): Show HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01169.hp2 HG01891.hp2 HG01981.hp2 HG02293.hp1 HG02602.hp1 HG03669.hp2 HG03704.hp1 HG04199.hp1 HG04199.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0006c0011	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(9): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0002c0003t0003 a0002c0003t0004 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0006 a0003c0004t0017 a0006c0011t0004	a0001c0001t0001g0106 a0001c0002t0003g0048 a0001c0002t0004g0140 others(13): Show a0001c0001t0001g0106 a0001c0002t0003g0048 a0001c0002t0004g0140 a0001c0002t0011g0015 a0001c0002t0011g0016 a0002c0003t0003g0236 a0002c0003t0004g0235 a0003c0004t0001g0044 a0003c0004t0001g0110 a0003c0004t0001g0118 a0003c0004t0003g0002 a0003c0004t0003g0137 a0003c0004t0004g0139 a0003c0004t0006g0136 a0003c0004t0017g0134 a0006c0011t0004g0142	16	268	0.0597	11	c.100 others(32): Show c.1008-21966_1008-21956dupGATTCAAGCCT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210494542	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02135.hp1 HG01516.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0111 a0001c0001t0004g0087 a0001c0001t0001g0111 a0001c0001t0004g0087	2	268	0.0075	11	c.100 others(32): Show c.1008-18594_1008-18584dupTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210502383	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18969.hp2 NA19086.hp1 HG00642.hp1 NA18969.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0003 a0001c0002t0001 a0001c0002t0002 a0002c0003t0003	a0001c0002t0001g0228 a0001c0002t0002g0229 a0002c0003t0003g0251 a0001c0002t0001g0228 a0001c0002t0002g0229 a0002c0003t0003g0251	3	268	0.0112	11	c.100 others(32): Show c.1008-10761_1008-10751dupAAAAAAAAAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210569373	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG01109.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0152 a0001c0002t0002g0011 a0001c0001t0003g0152 a0001c0002t0002g0011	2	268	0.0075	11	c.104 others(32): Show c.1044-18509_1044-18499dupAAAAAAAAAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210577637	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01109.hp1 others(10): Show HG00099.hp2 HG00280.hp1 HG01109.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp2 HG02145.hp2 HG02818.hp2 HG06807.hp2 NA18522.hp2 NA19002.hp1 NA19074.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0002c0003t0003	a0001c0001t0001g0212 a0001c0001t0002g0007 a0001c0001t0002g0157 others(10): Show a0001c0001t0001g0212 a0001c0001t0002g0007 a0001c0001t0002g0157 a0001c0001t0003g0159 a0001c0001t0004g0171 a0001c0002t0002g0011 a0001c0002t0003g0043 a0001c0002t0004g0199 a0001c0002t0006g0042 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0240 a0002c0003t0003g0241	13	268	0.0485	11	c.104 others(32): Show c.1044-10244_1044-10234dupTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210648170	G G	GTTTGGAA others(4): Show GTTTGGAATGGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0101	1	268	0.0037	11	c.139 others(32): Show c.1390+24503_1390+24513dupTGGAATGGCTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIP_chr4_144641156_144750271	144707646	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	316	0.0032	11	c.115 others(28): Show c.1157+388_1157+398dupAAAAAAAAAAA	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
HHIP_chr4_144641156_144750271	144742901	T T	TATATATA others(4): Show TATATATATATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0095 a0001c0001t0051g0095	1	316	0.0032	11	c.49 others(22): Show c.4944_*4945insATATATATATC	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding	13/13	4945		chr4	TogoVar
HHLA1_chr8_132056480_132116157	132068996	G G	GGTAGAAA others(4): Show GGTAGAAAAAGA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0113 a0002c0003t0001g0113	1	380	0.0026	11	c.146 others(30): Show c.1469+2343_1469+2344insTCTTTTTCTAC	HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	15/16			chr8	TogoVar
HHLA1_chr8_132056480_132116157	132070011	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG01257.hp1 others(12): Show HG00609.hp2 HG00735.hp1 HG01257.hp1 HG01258.hp1 HG02074.hp1 HG03017.hp2 HG03239.hp2 HG03516.hp1 HG03669.hp1 NA18962.hp1 NA18968.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp1 NA19070.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0005 a0001c0024 others(5): Show a0001c0001 a0001c0005 a0001c0024 a0002c0003 a0002c0004 a0002c0013 a0003c0002 a0013c0018	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0024t0001 a0002c0003t0001 a0002c0004t0001 a0002c0013t0001 a0003c0002t0001 a0003c0002t0002 a0013c0018t0001	a0001c0001t0001g0178 a0001c0001t0004g0334 a0001c0005t0001g0059 others(11): Show a0001c0001t0001g0178 a0001c0001t0004g0334 a0001c0005t0001g0059 a0001c0024t0001g0195 a0002c0003t0001g0116 a0002c0003t0001g0132 a0002c0003t0001g0151 a0002c0003t0001g0167 a0002c0004t0001g0009 a0002c0004t0001g0052 a0002c0013t0001g0104 a0003c0002t0001g0344 a0003c0002t0002g0145 a0013c0018t0001g0213	15	380	0.0395	11	c.146 others(30): Show c.1469+1318_1469+1328dupCCCCCCCCCCC	HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	15/16			chr8	TogoVar
HHLA2_chr3_108291548_108383285	108318358	C C	CTTTGACA others(4): Show CTTTGACATGGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0202 a0001c0002t0003g0202	1	322	0.0031	11	c.-27 others(28): Show c.-27+7618_-27+7619insTTGACATGGAT	HHLA2	ENSG00000114455.15	transcript	ENST00000467761.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
HHLA2_chr3_108291548_108383285	108321091	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0018 a0002c0003t0014g0018	1	322	0.0031	11	c.-27 others(30): Show c.-27+10361_-27+10371dupAAAAAAAAAAA	HHLA2	ENSG00000114455.15	transcript	ENST00000467761.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
HIBADH_chr7_27520442_27667883	27527917	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18984.hp1 NA19001.hp1 others(1): Show HG03041.hp2 NA18984.hp1 NA19001.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0068	4	326	0.0123	11	c.853 others(28): Show c.853-1546_853-1545insAAAAAAAAAAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	7/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27617086	C C	CACTCACT others(4): Show CACTCACTCACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(296): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 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 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(296): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0001 a0001c0001t0003g0031 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0182 a0001c0001t0004g0161 a0001c0001t0006g0083 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0005g0285 a0001c0002t0007g0317 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0263 a0001c0003t0001g0274 a0001c0003t0001g0307 a0001c0003t0001g0313 a0001c0005t0001g0036 a0001c0005t0001g0037	299	326	0.9172	11	c.484 others(30): Show c.484+12284_484+12285insAGTGAGTGAGT	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	4/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27626104	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	326	0.0031	11	c.484 others(28): Show c.484+3256_484+3266dupTTTTTTTTTTT	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	4/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27638308	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01069.hp1 others(3): Show HG00140.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214	6	326	0.0184	11	c.253 others(28): Show c.253-5874_253-5864dupTTTTTTTTTTT	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27645368	A A	ATGTTTTT others(4): Show ATGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp1 HG02622.hp2 others(3): Show HG00738.hp2 HG01361.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0001g0214	6	326	0.0184	11	c.252 others(28): Show c.252+4104_252+4105insAAAAAAAAACA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIC2_chr22_21412371_21456463	21425165	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG04184.hp1 NA19070.hp2 others(1): Show HG00639.hp2 HG04184.hp1 NA19070.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0046 a0001c0001t0007 a0001c0001t0015 a0001c0001t0046	a0001c0001t0007g0029 a0001c0001t0007g0170 a0001c0001t0015g0223 others(1): Show a0001c0001t0007g0029 a0001c0001t0007g0170 a0001c0001t0015g0223 a0001c0001t0046g0030	4	288	0.0139	11	c.-74 others(28): Show c.-74+7609_-74+7619dupAAAAAAAAAAA	HIC2	ENSG00000169635.10	transcript	ENST00000407464.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
HIC2_chr22_21412371_21456463	21456345	A A	AAACACAA others(4): Show AAACACAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	288	0.0035	11	c.96 others(22): Show c.9602_*9603insAACACAAAAAC	HIC2	ENSG00000169635.10	transcript	ENST00000407464.7	protein_coding		4883		chr22	TogoVar
HIF1A_chr14_61690513_61753258	61703815	A A	AGTGCTAC others(4): Show AGTGCTACCATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(294): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 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 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0002c0002 a0003c0004 a0004c0005 a0005c0009 a0006c0010 a0007c0012 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0003t0002 a0001c0006t0007 a0001c0011t0002 a0002c0002t0002 a0002c0002t0012 a0003c0004t0001 a0004c0005t0003 a0005c0009t0001 a0006c0010t0008 a0007c0012t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(262): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0256 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0094 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0003g0019 a0001c0001t0003g0099 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0004g0059 a0001c0001t0004g0286 a0001c0001t0005g0251 a0001c0001t0005g0255 a0001c0001t0006g0101 a0001c0001t0009g0229 a0001c0001t0011g0258 a0001c0001t0013g0125 a0001c0001t0014g0113 a0001c0001t0015g0272 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0281 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0006t0007g0060 a0001c0011t0002g0266 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0277 a0002c0002t0012g0089 a0003c0004t0001g0013 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0058 a0004c0005t0003g0100 a0004c0005t0003g0106 a0004c0005t0003g0110 a0005c0009t0001g0186 a0006c0010t0008g0274 a0007c0012t0001g0066 a0008c0008t0001g0162	297	322	0.9224	11	c.35+ others(26): Show c.35+7978_35+7979insGCTACCATTGT	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
HIF1A_chr14_61690513_61753258	61724349	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	322	0.0031	11	c.458 others(28): Show c.458-2357_458-2356insCTCTCTCTCTC	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	4/14			chr14	TogoVar
HIF1A_chr14_61690513_61753258	61724381	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	322	0.0031	11	c.458 others(28): Show c.458-2325_458-2324insTCTCTCTCTCT	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	4/14			chr14	TogoVar
HIF3A_chr19_46292042_46348433	46293851	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02723.hp1 others(1): Show HG02109.hp1 HG02615.hp2 HG02723.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0001 a0001c0006t0028 a0001c0001t0008 a0001c0006t0001 a0001c0006t0028	a0001c0001t0008g0158 a0001c0001t0008g0378 a0001c0006t0001g0392 others(1): Show a0001c0001t0008g0158 a0001c0001t0008g0378 a0001c0006t0001g0392 a0001c0006t0028g0370	4	418	0.0096	11	c.-32 others(22): Show c.-3226_-3225insAAAAAAAAAAA	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding		3190		chr19	TogoVar
HIF3A_chr19_46292042_46348433	46295482	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0392 a0001c0006t0001g0392	1	418	0.0024	11	c.-15 others(22): Show c.-1595_-1594insAAAAAAAAAAA	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding		1559		chr19	TogoVar
HIF3A_chr19_46292042_46348433	46296148	A A	ACACACAC others(4): Show ACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	418	0.0024	11	c.-92 others(20): Show c.-929_-928insCACACACACAC	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding		893		chr19	TogoVar
HIF3A_chr19_46292042_46348433	46321049	G G	GCCACCCA others(4): Show GCCACCCATGCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0127	1	418	0.0024	11	c.114 others(28): Show c.1144+491_1144+501dupACCCATGCTCC	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIGD1A_chr3_42777908_42809490	42787594	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp2 NA19078.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0132 a0001c0001t0002g0093 a0001c0001t0002g0132	2	400	0.0050	11	c.98- others(26): Show c.98-1433_98-1432insATATTTTTTTT	HIGD1A	ENSG00000181061.14	transcript	ENST00000321331.12	protein_coding	2/3			chr3	TogoVar
HIGD1C_chr12_50947544_50975607	50948137	T T	TATACATA others(4): Show TATACATAGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	380	0.0026	11	c.-46 others(22): Show c.-4642_-4641insATACATAGTGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		4406		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948866	G G	GGGGGGAG others(4): Show GGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	380	0.0026	11	c.-39 others(22): Show c.-3913_-3912insGGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3677		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGAGGGG others(4): Show GGGAGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02155.hp1 HG02723.hp2 others(2): Show HG01891.hp2 HG02155.hp1 HG02723.hp2 HG04184.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0129 others(2): Show a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0002g0003	5	380	0.0132	11	c.-38 others(22): Show c.-3848_-3847insGGAGGGGAGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3612		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGGAGGG others(4): Show GGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0034 a0002c0003t0003g0034	1	380	0.0026	11	c.-38 others(22): Show c.-3848_-3847insGGGAGGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3612		chr12	TogoVar
HIKESHI_chr11_86297240_86350943	86316771	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	398	0.0025	11	c.268 others(30): Show c.268+10319_268+10329dupTTTTTTTTTTT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar

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