Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
H1-1_chr6_26012032_26022787	26021275	AGAGGTTT others(23): Show AGAGGTTTCAGTGAATCGAGATGGCTCTAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-30	c.-35 others(41): Show c.-3573_-3544delATTAGAGCCATCTCGATTCACTGAAACCTC	H1-1	ENSG00000124610.5	transcript	ENST00000244573.5	protein_coding		3489		chr6	TogoVar
H1-8_chr3_129538175_129556467	129540468	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03491.hp2 HG03492.hp1 others(1): Show HG03471.hp1 HG03491.hp2 HG03492.hp1 HG06807.hp2	a0004 a0008 a0004 a0008	a0004c0006 a0008c0011 a0004c0006 a0008c0011	a0004c0006t0001 a0008c0011t0001 a0004c0006t0001 a0008c0011t0001	a0004c0006t0001g0007 a0008c0011t0001g0032 a0004c0006t0001g0007 a0008c0011t0001g0032	4	422	0.0095	-30	c.-27 others(41): Show c.-2750_-2721delTATATATATATATATATATATATATATATA	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2706		chr3	TogoVar
H1-8_chr3_129538175_129556467	129540496	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03209.hp2 HG03225.hp1 others(1): Show HG01109.hp1 HG03209.hp2 HG03225.hp1 NA19030.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0007 a0004c0006t0001g0007	4	422	0.0095	-30	c.-27 others(41): Show c.-2722_-2693delTATATATATATATATATATATATATATTTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2678		chr3	TogoVar
H2AC11_chr6_27128043_27138535	27129279	TCAAGTAT others(23): Show TCAAGTATCACCTCTATCATTGCCTACCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	406	0.0025	-30	c.-37 others(41): Show c.-3792_-3763delCAAGTATCACCTCTATCATTGCCTACCACC	H2AC11	ENSG00000196787.4	transcript	ENST00000359193.4	protein_coding		3763		chr6	TogoVar
H2BC11_chr6_27127316_27137795	27129279	TCAAGTAT others(23): Show TCAAGTATCACCTCTATCATTGCCTACCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-30	c.30 others(41): Show c.3061_*3090delGGTGGTAGGCAATGATAGAGGTGATACTTG	H2BC11	ENSG00000124635.9	transcript	ENST00000339812.3	protein_coding		3036		chr6	TogoVar
HACE1_chr6_104723094_104864919	104831918	AAGAAGAG others(23): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	346	0.0029	-30	c.534 others(47): Show c.534+1094_534+1123delCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HACL1_chr3_15555699_15606569	15592549	CATGTGTG others(23): Show CATGTGTGCGTGTATACACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19057.hp1 NA19082.hp2 NA18965.hp2 NA19057.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0174 a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0174	3	428	0.0070	-30	c.228 others(45): Show c.228-899_228-870delATGTGCGTACATGTGTATACACGCACACAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HADH_chr4_107984889_108040171	108022165	ATATGTGT others(23): Show ATATGTGTGTGTGTGTGTGTGTGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	304	0.0033	-30	c.547 others(47): Show c.547-1307_547-1278delATGTGTGTGTGTGTGTGTGTGTATGTGT GT	HADH	ENSG00000138796.18	transcript	ENST00000309522.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
HAPLN1_chr5_83632805_83725855	83695583	GAGATAAA others(23): Show GAGATAAATATATATCTATATAGATATCTAT	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18979.hp1 NA18941.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0052 a0001c0001t0050 a0001c0001t0052	a0001c0001t0050g0368 a0001c0001t0052g0367 a0001c0001t0050g0368 a0001c0001t0052g0367	2	372	0.0054	-30	c.-26 others(49): Show c.-26-22064_-26-22035delATAGATATCTATATAGATATATATTT ATCT	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	1/4			chr5	TogoVar
HARBI1_chr11_46597861_46622227	46622076	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18945.hp1 NA18948.hp1 others(6): Show NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18959.hp1 NA18963.hp2 NA19056.hp2 NA19067.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0158	9	258	0.0349	-30	c.-51 others(41): Show c.-5127_-5098delATATATATATATATATATATATATATATAT	HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding		4850		chr11	TogoVar
HAT1_chr2_171917461_171988686	171974191	AAGAAAAA others(23): Show AAGAAAAAAAGAAAAAGAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01517.hp2 HG02027.hp1 others(4): Show HG01175.hp1 HG01517.hp2 HG02027.hp1 HG02738.hp1 NA18949.hp1 NA19081.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0063	7	326	0.0215	-30	c.824 others(47): Show c.824-1964_824-1935delGAAAAAAAGAAAAAGAAAAAAAAAAAAA GA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977539	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02723.hp2 others(11): Show HG02486.hp2 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03579.hp1 HG04204.hp2 NA18522.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(11): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0310 a0001c0001t0001g0322	14	326	0.0429	-30	c.975 others(47): Show c.975+1233_975+1262delATATATATATATATATATTTTTTTTTTT TT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977541	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00733.hp2 others(46): Show HG00140.hp2 HG00323.hp2 HG00733.hp2 HG01074.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp1 HG02647.hp2 HG02698.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18974.hp1 NA18985.hp2 NA18990.hp1 NA19003.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0261 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325	49	326	0.1503	-30	c.975 others(47): Show c.975+1235_975+1264delATATATATATATATATTTTTTTTTTTTT TT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS8_chr19_17044729_17080452	17055141	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	400	0.0025	-30	c.787 others(45): Show c.787+690_787+719delATATATATATATATATATATATATATATTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044586	GGAAAGAA others(23): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0004 a0008c0010t0004	a0008c0010t0004g0231 a0008c0010t0004g0231	1	352	0.0028	-30	c.782 others(47): Show c.782-1934_782-1905delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR2_chr5_157080832_157114044	157093082	TATATATA others(23): Show TATATATATATATGTGTATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG02896.hp1 others(6): Show HG01884.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0156 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0156 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248	9	380	0.0237	-30	c.676 others(47): Show c.676+2194_676+2223delGTATATATATGTATACACATATATATAT AT	HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	5/6			chr5	TogoVar
HBM_chr16_160978_171764	164723	CCGCGGGG others(23): Show CCGCGGGGCGGGCGGGGCCGCGGGGCGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG04199.hp2 HG01891.hp2 HG02717.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	370	0.0081	-30	c.-12 others(41): Show c.-1274_-1245delCGCGGGGCGGGCGGGGCCGCGGGGCGGGGT	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1254		chr16	TogoVar
HBZ_chr16_147644_159503	154179	CGGGGAGG others(23): Show CGGGGAGGGGCGGGGTCGCGGGGCGGATGCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01361.hp1 HG02015.hp1 others(12): Show HG00423.hp1 HG01361.hp1 HG02015.hp1 HG02056.hp2 HG02083.hp1 HG02809.hp1 NA18943.hp1 NA18969.hp2 NA18982.hp2 NA18993.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0083	15	432	0.0347	-30	c.300 others(43): Show c.300+88_301-59delAGGGGCGGGGTCGCGGGGCGGATGCGGGGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCAR2_chr12_122696293_122708357	122698527	CAAGTACA others(23): Show CAAGTACACAGATACACGTATTTTAAAAGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	-30	c.36 others(41): Show c.3635_*3664delTTCTTTTAAAATACGTGTATCTGTGTACTT	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		2765		chr12	TogoVar
HCK_chr20_32047242_32106856	32054475	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02451.hp2 HG01123.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0190 a0001c0001t0001g0152 a0001c0001t0001g0190	2	290	0.0069	-30	c.62+ others(45): Show c.62+2009_62+2038delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32094761	GAAGGAAA others(23): Show GAAGGAAAGAAAGAAAGAGAGAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG06807.hp1 NA20805.hp2 HG00609.hp1 HG06807.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0142 a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0142	3	290	0.0103	-30	c.124 others(47): Show c.1246+747_1246+776delAGGAAAGAAAGAAAGAGAGAGAAAGAGA AA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN2_chr19_584881_622159	613572	CGGGGCCG others(23): Show CGGGGCCGGGGATGGGGATGGGGATGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp1 others(64): Show HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG01109.hp1 HG01243.hp1 HG01928.hp2 HG01934.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18951.hp2 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19056.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19080.hp2 NA19082.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0010 a0012	a0001c0001 a0001c0003 a0001c0006 others(26): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0001c0018 a0001c0023 a0001c0025 a0001c0026 a0001c0075 a0001c0083 a0001c0088 a0001c0097 a0001c0112 a0001c0117 a0002c0004 a0002c0010 a0002c0012 a0002c0016 a0002c0050 a0002c0062 a0002c0068 a0002c0071 a0002c0074 a0007c0095 a0009c0061 a0010c0069 a0012c0081	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 a0001c0006t0004 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0008t0002 a0001c0008t0012 a0001c0013t0001 a0001c0013t0002 a0001c0018t0001 a0001c0023t0001 a0001c0023t0004 a0001c0025t0001 a0001c0025t0005 a0001c0026t0002 a0001c0075t0004 a0001c0083t0009 a0001c0088t0002 a0001c0097t0001 a0001c0112t0014 a0001c0117t0015 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0010t0001 a0002c0010t0002 a0002c0012t0001 a0002c0016t0001 a0002c0050t0002 a0002c0062t0004 a0002c0068t0004 a0002c0071t0002 a0002c0074t0002 a0007c0095t0001 a0009c0061t0001 a0010c0069t0001 a0012c0081t0002	a0001c0001t0001g0137 a0001c0001t0002g0077 a0001c0001t0002g0084 others(64): Show a0001c0001t0001g0137 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0113 a0001c0001t0002g0135 a0001c0001t0002g0164 a0001c0001t0002g0185 a0001c0001t0002g0237 a0001c0001t0004g0017 a0001c0003t0001g0180 a0001c0003t0001g0206 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0179 a0001c0003t0002g0192 a0001c0003t0002g0203 a0001c0003t0002g0205 a0001c0003t0002g0223 a0001c0006t0002g0027 a0001c0006t0002g0073 a0001c0006t0002g0216 a0001c0006t0004g0072 a0001c0007t0001g0066 a0001c0007t0002g0086 a0001c0008t0001g0026 a0001c0008t0002g0082 a0001c0008t0012g0371 a0001c0013t0001g0198 a0001c0013t0002g0197 a0001c0018t0001g0040 a0001c0018t0001g0048 a0001c0023t0001g0125 a0001c0023t0001g0370 a0001c0023t0004g0247 a0001c0025t0001g0050 a0001c0025t0005g0049 a0001c0026t0002g0045 a0001c0075t0004g0200 a0001c0083t0009g0097 a0001c0088t0002g0399 a0001c0097t0001g0119 a0001c0112t0014g0047 a0001c0117t0015g0063 a0002c0004t0001g0303 a0002c0004t0002g0328 a0002c0004t0002g0355 a0002c0004t0004g0275 a0002c0004t0004g0325 a0002c0010t0001g0354 a0002c0010t0001g0363 a0002c0010t0002g0266 a0002c0010t0002g0270 a0002c0012t0001g0264 a0002c0012t0001g0345 a0002c0016t0001g0306 a0002c0050t0002g0361 a0002c0062t0004g0362 a0002c0068t0004g0358 a0002c0071t0002g0273 a0002c0074t0002g0350 a0007c0095t0001g0211 a0009c0061t0001g0356 a0010c0069t0001g0307 a0012c0081t0002g0398	67	408	0.1642	-30	c.182 others(47): Show c.1825+143_1825+172delATGGGGCCGGGGATGGGGATGGGGATGG GG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	613638	CGGGGATG others(23): Show CGGGGATGGGGATGGGGATGGGGCCGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03579.hp1 NA19055.hp2 HG01952.hp2 HG03579.hp1 NA19055.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0002c0060 a0003c0089 a0002c0005 a0002c0060 a0003c0089	a0002c0005t0003 a0002c0060t0003 a0003c0089t0003 a0002c0005t0003 a0002c0060t0003 a0003c0089t0003	a0002c0005t0003g0251 a0002c0060t0003g0309 a0003c0089t0003g0106 a0002c0005t0003g0251 a0002c0060t0003g0309 a0003c0089t0003g0106	3	408	0.0074	-30	c.182 others(47): Show c.1825+161_1826-174delATGGGGATGGGGCCGGGGATGGGGATGG GG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCRTR2_chr6_55169515_55287617	55274278	CATATATT others(23): Show CATATATTTTATGAAATATATATACTTATAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02630.hp1 HG02809.hp1 HG01358.hp2 HG02630.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0081 a0001c0004t0001g0334 a0001c0004t0001g0335 a0001c0004t0001g0081 a0001c0004t0001g0334 a0001c0004t0001g0335	3	368	0.0082	-30	c.763 others(47): Show c.763-3055_763-3026delATATATACTTATATATATATTTTATGAA AT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC2_chr6_113928028_113976148	113930761	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02922.hp1 NA18948.hp2 others(3): Show HG02083.hp1 HG02922.hp1 NA18948.hp2 NA18965.hp2 NA19064.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0201 a0001c0001t0002g0215 a0001c0001t0002g0218 others(3): Show a0001c0001t0002g0201 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0228 a0001c0001t0002g0234 a0001c0001t0035g0211	6	402	0.0149	-30	c.10 others(43): Show c.10267_*10296delGGGGAGAGAGAGAGAGAGAGAGAGAGAGAG	HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding		2266		chr6	TogoVar
HDAC9_chr7_18490749_19007416	18732547	ATGTATAT others(23): Show ATGTATATACACACGTGTATATATGTGCATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG03471.hp1 others(4): Show HG02809.hp1 HG02818.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0001t0020 a0001c0002t0006 others(4): Show a0001c0001t0010 a0001c0001t0020 a0001c0002t0006 a0001c0002t0032 a0001c0002t0042 a0001c0003t0001 a0001c0003t0021	a0001c0001t0010g0153 a0001c0001t0020g0137 a0001c0002t0006g0138 others(4): Show a0001c0001t0010g0153 a0001c0001t0020g0137 a0001c0002t0006g0138 a0001c0002t0032g0018 a0001c0002t0042g0019 a0001c0003t0001g0022 a0001c0003t0021g0029	7	156	0.0449	-30	c.190 others(49): Show c.1909+4804_1909+4833delGTGTATATATGTGCATGTGTATATAC ACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732720	CACACACA others(23): Show CACACACACACGTGTATGTGTGCGTATGTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	156	0.0064	-30	c.190 others(49): Show c.1909+4972_1909+5001delACGTGTATGTGTGCGTATGTGTACAC ACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732948	CGTGTATG others(23): Show CGTGTATGTGTGTGTATGTGTATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	156	0.0064	-30	c.190 others(49): Show c.1909+5234_1909+5263delGTATGTGTATATACACATGTGTATGT GTGT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732991	GTATGTGT others(23): Show GTATGTGTATATACACATGTGTATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp1 HG03516.hp2 HG02572.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0004t0012 a0001c0001t0001 a0001c0001t0010 a0001c0004t0012	a0001c0001t0001g0072 a0001c0001t0010g0024 a0001c0004t0012g0023 a0001c0001t0001g0072 a0001c0001t0010g0024 a0001c0004t0012g0023	3	156	0.0192	-30	c.190 others(49): Show c.1909+5238_1909+5267delGTGTATATACACATGTGTATGTGTGT ATAT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDDC2_chr6_125270350_125306967	125302190	TCCTCCTC others(23): Show TCCTCCTCCTCCTGTTCTTATTCCTCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 NA20905.hp1 HG03710.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0003g0136 a0001c0001t0002g0003 a0001c0001t0003g0136	2	374	0.0054	-30	c.-28 others(39): Show c.-288_-259delGGGAGGAGGAATAAGAACAGGAGGAGGAGG	HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding		224		chr6	TogoVar
HDGFL1_chr6_22564566_22576666	22576522	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp1 others(40): Show HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01978.hp1 HG01993.hp2 HG02451.hp2 HG02572.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18951.hp2 NA18953.hp1 NA19081.hp2 NA19082.hp1 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0004c0006 a0005c0009 a0006c0013	a0001c0001t0001 a0001c0001t0006 a0001c0004t0003 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0003 a0001c0004t0004 a0002c0002t0001 a0004c0006t0003 a0004c0006t0018 a0005c0009t0001 a0006c0013t0003	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0004t0003g0000 others(6): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0004t0003g0000 a0001c0004t0004g0000 a0002c0002t0001g0000 a0004c0006t0003g0000 a0004c0006t0018g0000 a0005c0009t0001g0000 a0006c0013t0003g0000	43	432	0.0995	-30	c.61 others(41): Show c.6192_*6221delATATATATATATATATATATATATATATAT	HDGFL1	ENSG00000112273.7	transcript	ENST00000510882.4	protein_coding		4857		chr6	TogoVar
HEATR4_chr14_73473484_73563947	73509810	CCATATAT others(23): Show CCATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp2 HG01884.hp1 others(4): Show HG01167.hp1 HG01496.hp2 HG01884.hp1 HG03209.hp1 NA18522.hp1 NA19030.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0004 a0001c0004t0004	a0001c0001t0002g0317 a0001c0001t0006g0135 a0001c0001t0006g0136 others(4): Show a0001c0001t0002g0317 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0003t0004g0183 a0001c0004t0004g0257	7	368	0.0190	-30	c.155 others(47): Show c.1559-367_1559-338delTATATATATATATATATATATATATATA TG	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31336213	CATACATA others(23): Show CATACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02647.hp1 others(1): Show HG02055.hp2 HG02622.hp1 HG02647.hp1 NA19086.hp2	a0006 a0014 a0006 a0014	a0006c0007 a0014c0016 a0006c0007 a0014c0016	a0006c0007t0001 a0014c0016t0004 a0006c0007t0001 a0014c0016t0004	a0006c0007t0001g0265 a0014c0016t0004g0194 a0014c0016t0004g0195 others(1): Show a0006c0007t0001g0265 a0014c0016t0004g0194 a0014c0016t0004g0195 a0014c0016t0004g0196	4	354	0.0113	-30	c.336 others(49): Show c.3367+1233_3367+1262delATATATATATATATATATATATATAT GTAT	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31407580	TTATTTAT others(23): Show TTATTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0312 a0001c0015t0001g0312	1	354	0.0028	-30	c.-74 others(47): Show c.-74-4561_-74-4532delTATATATATATATATATATATATATAAA TA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35			chr14	TogoVar
HELLS_chr10_94540788_94607099	94580117	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	358	0.0028	-30	c.103 others(49): Show c.1033-1192_1033-1163delTATATATATATATATATATATATATA TATA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELZ_chr17_67065444_67250196	67125286	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp2 NA18954.hp2 HG02486.hp1 HG03225.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0044 a0001c0003t0002 a0002c0002t0026 a0001c0001t0044 a0001c0003t0002 a0002c0002t0026	a0001c0001t0044g0272 a0001c0003t0002g0125 a0002c0002t0026g0020 a0001c0001t0044g0272 a0001c0003t0002g0125 a0002c0002t0026g0020	3	274	0.0110	-30	c.338 others(49): Show c.3388-1302_3388-1273delTATATATATATATATATATATATATA TATA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	24/32			chr17	TogoVar
HENMT1_chr1_108643295_108666093	108658069	GTACACAC others(23): Show GTACACACACACACACACACACACACATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01243.hp2 others(8): Show HG00735.hp1 HG01081.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01515.hp1 HG03239.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0089 a0001c0001t0001g0090 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112	11	442	0.0249	-30	c.22- others(43): Show c.22-520_22-491delTATATGTGTGTGTGTGTGTGTGTGTGTGTA	HENMT1	ENSG00000162639.16	transcript	ENST00000651461.1	protein_coding	2/7			chr1	TogoVar
HEPHL1_chr11_94016354_94119208	94060092	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(72): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18952.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19060.hp1 NA19089.hp1 NA20129.hp2	a0001 a0003 a0008 others(4): Show a0001 a0003 a0008 a0012 a0015 a0018 a0019	a0001c0001 a0001c0006 a0003c0003 others(5): Show a0001c0001 a0001c0006 a0003c0003 a0008c0011 a0012c0017 a0015c0019 a0018c0021 a0019c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0006t0006 a0003c0003t0003 a0008c0011t0001 a0012c0017t0001 a0015c0019t0001 a0018c0021t0002 a0019c0020t0002	a0001c0001t0001g0002 a0001c0001t0001g0168 a0001c0001t0001g0169 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0325 a0001c0001t0001g0342 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0296 a0001c0001t0003g0164 a0001c0001t0003g0203 a0001c0001t0003g0277 a0001c0001t0005g0045 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0241 a0001c0001t0005g0244 a0001c0001t0006g0032 a0001c0001t0008g0174 a0001c0001t0008g0229 a0001c0001t0011g0184 a0001c0001t0011g0192 a0001c0001t0013g0246 a0001c0001t0013g0247 a0001c0006t0006g0030 a0001c0006t0006g0033 a0001c0006t0006g0038 a0003c0003t0003g0089 a0008c0011t0001g0182 a0012c0017t0001g0141 a0015c0019t0001g0233 a0018c0021t0002g0179 a0019c0020t0002g0232	75	368	0.2038	-30	c.416 others(47): Show c.416-3387_416-3358delTATATATATATATATATATATATATATA TA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01243.hp1 others(19): Show HG00423.hp1 HG00597.hp2 HG01243.hp1 HG02109.hp1 HG02165.hp1 HG02258.hp2 HG02922.hp1 HG02970.hp2 HG03486.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18947.hp2 NA18960.hp2 NA18968.hp1 NA18980.hp1 NA18984.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0002c0002t0001 a0004c0004t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 others(19): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0210 a0001c0001t0002g0228 a0001c0001t0002g0263 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0004c0004t0001g0357	22	368	0.0598	-30	c.243 others(47): Show c.2434+345_2434+374delTATATATATATATATATATATATATATA TA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01261.hp2 others(26): Show HG00544.hp2 HG00609.hp2 HG01261.hp2 HG02027.hp1 HG02155.hp1 HG02523.hp1 HG02559.hp2 HG02683.hp2 HG02886.hp2 HG03017.hp2 HG03491.hp1 HG03831.hp2 HG04204.hp2 NA18747.hp2 NA18944.hp1 NA18952.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18994.hp2 NA18999.hp2 NA19057.hp2 NA19067.hp2 NA19077.hp2	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0001 a0003c0003 a0021c0015 a0001c0001 a0003c0003 a0021c0015	a0001c0001t0003 a0001c0001t0018 a0003c0003t0003 others(1): Show a0001c0001t0003 a0001c0001t0018 a0003c0003t0003 a0021c0015t0003	a0001c0001t0003g0001 a0001c0001t0003g0071 a0001c0001t0003g0072 others(25): Show a0001c0001t0003g0001 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0326 a0001c0001t0018g0101 a0003c0003t0003g0081 a0003c0003t0003g0086 a0003c0003t0003g0087 a0003c0003t0003g0088 a0003c0003t0003g0089 a0003c0003t0003g0090 a0003c0003t0003g0091 a0003c0003t0003g0092 a0003c0003t0003g0094 a0003c0003t0003g0183 a0003c0003t0003g0323 a0003c0003t0003g0346 a0021c0015t0003g0093	29	368	0.0788	-30	c.36 others(41): Show c.3679_*3708delATATATATATATATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HEPH_chrX_66159247_66272389	66208631	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	218	0.0046	-30	c.256 others(47): Show c.2563+402_2563+431delATATATATATATATATATATATATATAT AT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HERC4_chr10_67916905_68080283	67927404	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0293 a0001c0001t0009g0293	1	360	0.0028	-30	c.283 others(49): Show c.2839-2247_2839-2218delAAAATATATATATATATATATATATA TATA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059721	TATATTAT others(23): Show TATATTATATATCATAATATTATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18946.hp2 NA18948.hp1 others(3): Show HG01243.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0228 a0001c0002t0001g0229 others(3): Show a0001c0002t0001g0219 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0266 a0001c0002t0001g0278 a0001c0002t0001g0284	6	360	0.0167	-30	c.226 others(49): Show c.226+13132_226+13161delTATAATATATAATATTATGATATATA ATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERPUD2_chr7_35627659_35700135	35631695	AAAATATA others(23): Show AAAATATATAAATTATATATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG03225.hp1 others(2): Show HG02451.hp1 HG02976.hp2 HG03225.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0186 a0001c0001t0003g0219 others(2): Show a0001c0001t0003g0143 a0001c0001t0003g0186 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221	5	392	0.0128	-30	c.19 others(41): Show c.1965_*1994delATATAATTTATATATATAATTTATATATTT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		963		chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35682296	TGTGTATA others(23): Show TGTGTATATATAGATATATACACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0218 a0001c0001t0018g0218	1	392	0.0026	-30	c.148 others(47): Show c.148-9048_148-9019delGTGTGTATGTGTATATATCTATATATAC AC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HEXB_chr5_74680233_74726288	74690649	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	396	0.0025	-30	c.445 others(47): Show c.445+1197_445+1226delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
HEY1_chr8_79759010_79772767	79768291	ACGGCGAC others(23): Show ACGGCGACGGCGGCGGCCGCGCTGGCGGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	460	0.0022	-30	c.-65 others(39): Show c.-658_-629delCCGCCGCCAGCGCGGCCGCCGCCGTCGCCG	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		525		chr8	TogoVar
HFE_chr6_26082429_26103343	26103288	GGGAAAAC others(23): Show GGGAAAACATATTATCCAGACTTAAGTTTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	402	0.0025	-30	c.90 others(41): Show c.9063_*9092delGGAAAACATATTATCCAGACTTAAGTTTAT	HFE	ENSG00000010704.19	transcript	ENST00000357618.10	protein_coding		4946		chr6	TogoVar
HHAT_chr1_210323902_210681290	210428286	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG01109.hp1 others(10): Show HG00408.hp1 HG00642.hp2 HG01109.hp1 HG02109.hp2 HG02135.hp2 HG02572.hp1 HG02622.hp1 HG03098.hp1 HG04184.hp1 HG06807.hp2 NA18965.hp2 NA18989.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0012 a0001c0015t0003	a0001c0001t0002g0072 a0001c0001t0004g0092 a0001c0002t0001g0024 others(10): Show a0001c0001t0002g0072 a0001c0001t0004g0092 a0001c0002t0001g0024 a0001c0002t0001g0056 a0001c0002t0002g0011 a0001c0002t0002g0055 a0001c0002t0002g0081 a0001c0002t0003g0032 a0001c0002t0004g0127 a0001c0002t0004g0199 a0001c0002t0008g0141 a0001c0002t0012g0068 a0001c0015t0003g0020	13	268	0.0485	-30	c.856 others(48): Show c.856+9992_856+10021delTATATATATATATATATATATATATAT ATA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210636768	GAAACATC others(23): Show GAAACATCTAAGGTATGACAATATGCTTCAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG03209.hp1 others(1): Show HG02486.hp2 HG02818.hp2 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0104 a0001c0001t0003g0159 a0001c0001t0003g0198 others(1): Show a0001c0001t0002g0104 a0001c0001t0003g0159 a0001c0001t0003g0198 a0001c0002t0002g0080	4	268	0.0149	-30	c.139 others(51): Show c.1390+13100_1390+13129delAACATCTAAGGTATGACAATATGC TTCAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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