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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HECW1_chr7_43107647_43571001	43315465	GTTATTAT others(2): Show GTTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(67): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02895.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18968.hp1 NA18971.hp1 NA18983.hp1 NA18992.hp1 NA19009.hp1 NA19009.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0014 a0001c0018 a0001c0024 a0001c0025 a0002c0005 a0002c0016 a0003c0008 a0003c0028 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0027 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0009 a0001c0004t0013 a0001c0004t0026 a0001c0004t0032 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0010t0002 a0001c0010t0034 a0001c0014t0001 a0001c0018t0001 a0001c0024t0015 a0001c0025t0031 a0002c0005t0001 a0002c0005t0002 a0002c0005t0008 a0002c0016t0006 a0003c0008t0001 a0003c0028t0010 a0006c0019t0005	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0114 others(67): Show a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0003g0087 a0001c0001t0003g0178 a0001c0001t0004g0010 a0001c0001t0004g0026 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0057 a0001c0001t0005g0163 a0001c0001t0005g0166 a0001c0001t0015g0012 a0001c0001t0016g0041 a0001c0001t0018g0074 a0001c0001t0022g0067 a0001c0001t0024g0070 a0001c0001t0035g0025 a0001c0002t0001g0172 a0001c0002t0003g0124 a0001c0002t0004g0040 a0001c0002t0005g0180 a0001c0002t0027g0142 a0001c0003t0001g0120 a0001c0003t0001g0140 a0001c0003t0001g0155 a0001c0003t0001g0165 a0001c0004t0001g0061 a0001c0004t0001g0108 a0001c0004t0002g0053 a0001c0004t0003g0065 a0001c0004t0003g0077 a0001c0004t0009g0121 a0001c0004t0013g0068 a0001c0004t0026g0148 a0001c0004t0032g0027 a0001c0006t0001g0125 a0001c0006t0002g0050 a0001c0006t0004g0009 a0001c0010t0002g0054 a0001c0010t0002g0055 a0001c0010t0002g0056 a0001c0010t0034g0052 a0001c0014t0001g0132 a0001c0018t0001g0129 a0001c0024t0015g0035 a0001c0025t0031g0032 a0002c0005t0001g0110 a0002c0005t0001g0153 a0002c0005t0002g0007 a0002c0005t0002g0008 a0002c0005t0002g0014 a0002c0005t0002g0033 a0002c0005t0008g0083 a0002c0005t0008g0084 a0002c0005t0008g0086 a0002c0016t0006g0143 a0003c0008t0001g0133 a0003c0028t0010g0169 a0006c0019t0005g0179	70	182	0.3846	-9	c.352 others(26): Show c.352+3398_352+3406delTATTATTAT		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	4/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43336190	CTCTCTCT others(2): Show CTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18957.hp1 NA19087.hp1 HG00673.hp2 NA18957.hp1 NA19087.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0006 a0005c0026 a0001c0002 a0001c0006 a0005c0026	a0001c0002t0004 a0001c0006t0003 a0005c0026t0025 a0001c0002t0004 a0001c0006t0003 a0005c0026t0025	a0001c0002t0004g0011 a0001c0006t0003g0150 a0005c0026t0025g0149 a0001c0002t0004g0011 a0001c0006t0003g0150 a0005c0026t0025g0149	3	182	0.0165	-9	c.460 others(28): Show c.460+15450_460+15458delCTCTCTCTT		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43392295	TGTAAATG others(2): Show TGTAAATGGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02630.hp1 HG02809.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0037 a0003c0008t0010 a0003c0008t0037	a0003c0008t0010g0081 a0003c0008t0037g0016 a0003c0008t0010g0081 a0003c0008t0037g0016	2	182	0.0110	-9	c.556 others(26): Show c.556-4516_556-4508delAAATGGAGT		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	6/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43566615	TTTATTAT others(2): Show TTTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG03491.hp2 NA18941.hp2 others(6): Show HG02165.hp2 HG03491.hp2 NA18941.hp2 NA18942.hp1 NA18983.hp1 NA19009.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0004 a0001c0001t0015 a0001c0002t0003 others(3): Show a0001c0001t0004 a0001c0001t0015 a0001c0002t0003 a0001c0002t0004 a0001c0006t0003 a0001c0006t0004	a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0046 others(6): Show a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0015g0012 a0001c0002t0003g0124 a0001c0002t0004g0040 a0001c0006t0003g0150 a0001c0006t0004g0009	9	182	0.0495	-9	c.46 others(20): Show c.4690_*4698delTTATTATTA		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding					615		chr7	TogoVar
HECW2_chr2_196189072_196598554	196235648	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02630.hp2 others(9): Show HG01884.hp1 HG02559.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0020	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0032 a0001c0003t0003 a0001c0004t0002 a0001c0005t0012 a0001c0011t0002 a0001c0020t0016	a0001c0001t0002g0065 a0001c0001t0005g0069 a0001c0001t0005g0079 others(9): Show a0001c0001t0002g0065 a0001c0001t0005g0069 a0001c0001t0005g0079 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0002g0053 a0001c0002t0032g0090 a0001c0003t0003g0067 a0001c0004t0002g0041 a0001c0005t0012g0056 a0001c0011t0002g0027 a0001c0020t0016g0037	12	112	0.1071	-9	c.376 others(28): Show c.3764+4792_3764+4800delAAAAAAAAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	21/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196460776	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp2 HG01169.hp1 others(12): Show HG00642.hp2 HG01168.hp2 HG01169.hp1 HG01891.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0004c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0010 a0001c0005t0004 a0001c0007t0004 a0004c0017t0003	a0001c0001t0001g0013 a0001c0001t0001g0089 a0001c0001t0003g0018 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0089 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0006g0019 a0001c0001t0006g0026 a0001c0001t0018g0033 a0001c0002t0003g0028 a0001c0002t0004g0006 a0001c0002t0006g0035 a0001c0003t0010g0025 a0001c0005t0004g0031 a0001c0007t0004g0105 a0004c0017t0003g0030	15	112	0.1339	-9	c.-35 others(28): Show c.-35-27327_-35-27319delAAAAAAAAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196507158	CACACACT others(2): Show CACACACTAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03239.hp1 HG03492.hp1 others(1): Show HG00642.hp2 HG03239.hp1 HG03492.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0013 a0001c0001t0003g0018 a0001c0001t0006g0019 others(1): Show a0001c0001t0001g0013 a0001c0001t0003g0018 a0001c0001t0006g0019 a0001c0001t0006g0026	4	112	0.0357	-9	c.-35 others(28): Show c.-35-73709_-35-73701delATAGTGTGT		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28						chr2	TogoVar
HELLS_chr10_94540788_94607099	94575766	TGTGTTTG others(2): Show TGTGTTTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp1 HG01261.hp1 others(16): Show HG00438.hp1 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG02040.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp1 HG02647.hp2 HG03041.hp1 HG03471.hp2 NA18947.hp1 NA18978.hp2 NA18991.hp1 NA19001.hp1 NA19058.hp2 NA19065.hp1 NA19072.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0136 others(16): Show a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0136 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0109	19	358	0.0531	-9	c.889 others(24): Show c.889-895_889-887delGTGTTTGTG		HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	9/21						chr10	TogoVar
HELLS_chr10_94540788_94607099	94578070	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02071.hp1 others(28): Show HG01884.hp1 HG01891.hp2 HG02071.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG04204.hp2 NA18948.hp1 NA18950.hp1 NA18979.hp2 NA18993.hp1 NA19001.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19065.hp2 NA19076.hp2 NA19089.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(25): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043	31	358	0.0866	-9	c.103 others(28): Show c.1032+1284_1032+1292delAAAAAAAAA		HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
HELQ_chr4_83402346_83460823	83419083	CCACAGGC others(2): Show CCACAGGCCA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp2 HG03540.hp1 others(1): Show HG02486.hp1 HG03139.hp2 HG03540.hp1 NA19043.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0012	a0001c0004 a0004c0005 a0006c0008 others(1): Show a0001c0004 a0004c0005 a0006c0008 a0012c0014	a0001c0004t0001 a0004c0005t0002 a0006c0008t0001 others(1): Show a0001c0004t0001 a0004c0005t0002 a0006c0008t0001 a0012c0014t0002	a0001c0004t0001g0116 a0004c0005t0002g0230 a0006c0008t0001g0122 others(1): Show a0001c0004t0001g0116 a0004c0005t0002g0230 a0006c0008t0001g0122 a0012c0014t0002g0253	4	316	0.0127	-9	c.295 others(26): Show c.2950-886_2950-878delTGGCCTGTG		HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding	15/17						chr4	TogoVar
HELQ_chr4_83402346_83460823	83452974	TGAGGAAT others(2): Show TGAGGAATTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01243.hp2 others(51): Show HG01109.hp1 HG01167.hp2 HG01243.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0012 a0013	a0003c0003 a0003c0015 a0003c0016 others(6): Show a0003c0003 a0003c0015 a0003c0016 a0004c0005 a0004c0010 a0004c0011 a0007c0009 a0012c0014 a0013c0013	a0003c0003t0002 a0003c0015t0001 a0003c0016t0001 others(7): Show a0003c0003t0002 a0003c0015t0001 a0003c0016t0001 a0004c0005t0001 a0004c0005t0002 a0004c0010t0001 a0004c0011t0002 a0007c0009t0002 a0012c0014t0002 a0013c0013t0002	a0003c0003t0002g0011 a0003c0003t0002g0030 a0003c0003t0002g0233 others(45): Show a0003c0003t0002g0011 a0003c0003t0002g0030 a0003c0003t0002g0233 a0003c0003t0002g0234 a0003c0003t0002g0235 a0003c0003t0002g0236 a0003c0003t0002g0237 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0242 a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0246 a0003c0003t0002g0247 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0254 a0003c0003t0002g0258 a0003c0015t0001g0103 a0003c0016t0001g0105 a0004c0005t0001g0019 a0004c0005t0001g0095 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0104 a0004c0005t0002g0032 a0004c0005t0002g0230 a0004c0005t0002g0257 a0004c0010t0001g0224 a0004c0010t0001g0225 a0004c0010t0001g0226 a0004c0011t0002g0231 a0004c0011t0002g0232 a0007c0009t0002g0031 a0007c0009t0002g0256 a0012c0014t0002g0253 a0013c0013t0002g0255	54	316	0.1709	-9	c.101 others(26): Show c.1012+248_1012+256delTAATTCCTC		HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding	2/17						chr4	TogoVar
HELT_chr4_185013490_185025953	185023067	CTCTCTCT others(2): Show CTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG02723.hp2 others(5): Show HG02559.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1 NA18964.hp2 NA19007.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	8	454	0.0176	-9	c.22 others(20): Show c.2296_*2304delTCTCTCTCT		HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding					2115		chr4	TogoVar
HELZ2_chr20_63553086_63579239	63559558	AGGAGTCA others(2): Show AGGAGTCAGG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp2 HG02080.hp1 others(3): Show HG02027.hp2 HG02071.hp2 HG02080.hp1 NA19011.hp2 NA19070.hp2 NA19091.hp2	a0001 a0002 a0022 others(1): Show a0001 a0002 a0022 a0044	a0001c0001 a0002c0005 a0022c0024 others(1): Show a0001c0001 a0002c0005 a0022c0024 a0044c0109	a0001c0001t0009 a0002c0005t0006 a0002c0005t0011 others(2): Show a0001c0001t0009 a0002c0005t0006 a0002c0005t0011 a0022c0024t0004 a0044c0109t0034	a0001c0001t0009g0131 a0002c0005t0006g0276 a0002c0005t0006g0303 others(3): Show a0001c0001t0009g0131 a0002c0005t0006g0276 a0002c0005t0006g0303 a0002c0005t0011g0302 a0022c0024t0004g0200 a0044c0109t0034g0329	6	390	0.0154	-9	c.782 others(26): Show c.7826-197_7826-189delCCTGACTCC		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HELZ2_chr20_63553086_63579239	63570115	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(96): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02738.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0005 others(15): Show a0001 a0002 a0005 a0011 a0012 a0018 a0019 a0020 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0062	a0001c0001 a0002c0002 a0002c0005 others(26): Show a0001c0001 a0002c0002 a0002c0005 a0002c0015 a0002c0091 a0002c0097 a0002c0098 a0002c0099 a0002c0100 a0002c0108 a0005c0007 a0011c0028 a0011c0104 a0012c0027 a0012c0101 a0018c0030 a0019c0029 a0020c0106 a0020c0107 a0039c0092 a0040c0093 a0041c0103 a0042c0102 a0043c0096 a0044c0109 a0045c0095 a0046c0094 a0047c0105 a0062c0047	a0001c0001t0010 a0002c0002t0005 a0002c0002t0006 others(53): Show a0001c0001t0010 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0017 a0002c0002t0018 a0002c0002t0022 a0002c0002t0031 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0111 a0002c0005t0005 a0002c0005t0006 a0002c0005t0011 a0002c0005t0017 a0002c0005t0018 a0002c0005t0059 a0002c0005t0065 a0002c0005t0106 a0002c0015t0007 a0002c0015t0022 a0002c0091t0005 a0002c0097t0017 a0002c0098t0005 a0002c0099t0007 a0002c0100t0005 a0002c0108t0033 a0005c0007t0005 a0005c0007t0007 a0005c0007t0032 a0011c0028t0027 a0011c0104t0021 a0012c0027t0021 a0012c0027t0022 a0012c0101t0007 a0018c0030t0021 a0018c0030t0033 a0019c0029t0006 a0019c0029t0011 a0020c0106t0017 a0020c0107t0006 a0039c0092t0007 a0040c0093t0027 a0041c0103t0007 a0042c0102t0066 a0043c0096t0067 a0044c0109t0034 a0045c0095t0005 a0046c0094t0034 a0047c0105t0021 a0062c0047t0017	a0001c0001t0010g0047 a0002c0002t0005g0006 a0002c0002t0005g0032 others(83): Show a0001c0001t0010g0047 a0002c0002t0005g0006 a0002c0002t0005g0032 a0002c0002t0005g0270 a0002c0002t0005g0279 a0002c0002t0005g0282 a0002c0002t0005g0314 a0002c0002t0006g0031 a0002c0002t0006g0033 a0002c0002t0006g0311 a0002c0002t0006g0325 a0002c0002t0007g0007 a0002c0002t0007g0327 a0002c0002t0011g0273 a0002c0002t0011g0275 a0002c0002t0011g0312 a0002c0002t0011g0326 a0002c0002t0017g0313 a0002c0002t0018g0340 a0002c0002t0022g0306 a0002c0002t0022g0310 a0002c0002t0031g0036 a0002c0002t0057g0305 a0002c0002t0058g0307 a0002c0002t0060g0304 a0002c0002t0061g0308 a0002c0002t0062g0309 a0002c0002t0063g0037 a0002c0002t0111g0345 a0002c0005t0005g0029 a0002c0005t0005g0272 a0002c0005t0005g0346 a0002c0005t0006g0030 a0002c0005t0006g0041 a0002c0005t0006g0299 a0002c0005t0006g0303 a0002c0005t0006g0336 a0002c0005t0011g0297 a0002c0005t0011g0302 a0002c0005t0011g0324 a0002c0005t0011g0338 a0002c0005t0017g0335 a0002c0005t0018g0300 a0002c0005t0018g0301 a0002c0005t0018g0328 a0002c0005t0059g0285 a0002c0005t0065g0284 a0002c0005t0106g0277 a0002c0015t0007g0028 a0002c0015t0007g0278 a0002c0015t0022g0281 a0002c0091t0005g0290 a0002c0097t0017g0298 a0002c0098t0005g0342 a0002c0099t0007g0038 a0002c0100t0005g0283 a0002c0108t0033g0280 a0005c0007t0005g0035 a0005c0007t0005g0288 a0005c0007t0005g0289 a0005c0007t0005g0339 a0005c0007t0007g0317 a0005c0007t0007g0318 a0005c0007t0032g0034 a0011c0028t0027g0319 a0011c0028t0027g0320 a0011c0104t0021g0043 a0012c0027t0021g0291 a0012c0027t0022g0292 a0012c0101t0007g0315 a0018c0030t0021g0330 a0018c0030t0033g0331 a0019c0029t0006g0322 a0019c0029t0011g0323 a0020c0106t0017g0321 a0020c0107t0006g0274 a0039c0092t0007g0293 a0040c0093t0027g0294 a0041c0103t0007g0316 a0042c0102t0066g0104 a0043c0096t0067g0341 a0044c0109t0034g0329 a0045c0095t0005g0295 a0046c0094t0034g0296 a0047c0105t0021g0271 a0062c0047t0017g0287	99	390	0.2539	-9	c.570 others(24): Show c.570+380_570+388delAAAAAAAAA		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	4/19						chr20	TogoVar
HEPHL1_chr11_94016354_94119208	94019136	CTTTTTTT others(2): Show CTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(43): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp2 HG03704.hp1 HG03927.hp2 NA18940.hp2 NA18955.hp2 NA18968.hp2 NA18977.hp1 NA19000.hp1 NA19030.hp1 NA19089.hp1 NA20129.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0017	a0001c0001 a0001c0027 a0005c0008 others(2): Show a0001c0001 a0001c0027 a0005c0008 a0007c0009 a0017c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0027t0002 a0005c0008t0010 a0007c0009t0012 a0017c0022t0015	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 others(42): Show a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0261 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0350 a0001c0001t0002g0035 a0001c0001t0002g0043 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0296 a0001c0001t0003g0004 a0001c0001t0003g0050 a0001c0001t0003g0257 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0281 a0001c0001t0009g0285 a0001c0001t0009g0286 a0001c0001t0014g0065 a0001c0001t0014g0066 a0001c0027t0002g0258 a0005c0008t0010g0053 a0007c0009t0012g0067 a0007c0009t0012g0068 a0017c0022t0015g0048	46	368	0.1250	-9	c.-22 others(20): Show c.-2232_-2224delTTTTTTTTT		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding					2217		chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94056656	ATTATCTA others(2): Show ATTATCTATC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18974.hp2 NA18975.hp2 others(2): Show NA18957.hp2 NA18974.hp2 NA18975.hp2 NA18992.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0341 others(2): Show a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0341 a0001c0001t0001g0350 a0001c0001t0001g0351	5	368	0.0136	-9	c.416 others(26): Show c.416-6850_416-6842delTATCTATCT		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94066555	CAAAAGAA others(2): Show CAAAAGAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG03579.hp1 HG02280.hp1 HG03098.hp2 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0029 a0005c0008 a0001c0029 a0005c0008	a0001c0029t0010 a0005c0008t0010 a0001c0029t0010 a0005c0008t0010	a0001c0029t0010g0052 a0005c0008t0010g0053 a0005c0008t0010g0054 a0001c0029t0010g0052 a0005c0008t0010g0053 a0005c0008t0010g0054	3	368	0.0082	-9	c.809 others(24): Show c.809-934_809-926delAAAAAAAGA		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HERC2_chr15_28106040_28327179	28316222	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02896.hp1 others(4): Show HG02055.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG06807.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0013 a0003c0071 a0004c0012 others(1): Show a0001c0013 a0003c0071 a0004c0012 a0004c0072	a0001c0013t0002 a0003c0071t0002 a0004c0012t0002 others(1): Show a0001c0013t0002 a0003c0071t0002 a0004c0012t0002 a0004c0072t0002	a0001c0013t0002g0243 a0001c0013t0002g0244 a0001c0013t0002g0245 others(4): Show a0001c0013t0002g0243 a0001c0013t0002g0244 a0001c0013t0002g0245 a0003c0071t0002g0005 a0004c0012t0002g0004 a0004c0012t0002g0006 a0004c0072t0002g0242	7	250	0.0280	-9	c.72+ others(24): Show c.72+5131_72+5139delTTTTTTTTT		HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	2/92						chr15	TogoVar
HERC2_chr15_28106040_28327179	28326611	ACAAAAAA others(2): Show ACAAAAAATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG01891.hp1 others(6): Show HG01081.hp2 HG01884.hp2 HG01891.hp1 HG02572.hp2 HG02622.hp1 HG02976.hp2 HG03209.hp2 NA18906.hp1 NA19030.hp2	a0001 a0004 a0021 others(1): Show a0001 a0004 a0021 a0028	a0001c0008 a0004c0030 a0021c0033 others(1): Show a0001c0008 a0004c0030 a0021c0033 a0028c0027	a0001c0008t0001 a0004c0030t0002 a0021c0033t0001 others(1): Show a0001c0008t0001 a0004c0030t0002 a0021c0033t0001 a0028c0027t0001	a0001c0008t0001g0108 a0001c0008t0001g0132 a0001c0008t0001g0133 others(6): Show a0001c0008t0001g0108 a0001c0008t0001g0132 a0001c0008t0001g0133 a0001c0008t0001g0134 a0001c0008t0001g0148 a0001c0008t0001g0149 a0004c0030t0002g0109 a0021c0033t0001g0167 a0028c0027t0001g0138	9	250	0.0360	-9	c.-45 others(20): Show c.-4577_-4569delAATTTTTTG		HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding					4433		chr15	TogoVar
HERC3_chr4_88587480_88713539	88627904	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(50): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02559.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03942.hp2 NA18612.hp1 NA18940.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19058.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19079.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0004t0001 a0001c0004t0004 a0001c0004t0017 a0002c0003t0002	a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0200 others(48): Show a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0006g0052 a0001c0001t0006g0195 a0001c0001t0010g0210 a0001c0001t0019g0192 a0001c0004t0001g0188 a0001c0004t0004g0189 a0001c0004t0004g0279 a0001c0004t0004g0280 a0001c0004t0004g0281 a0001c0004t0017g0187 a0002c0003t0002g0123	53	296	0.1791	-9	c.226 others(28): Show c.226+21868_226+21876delAAAAAAAAA		HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC4_chr10_67916905_68080283	68059648	ATTATATA others(2): Show ATTATATATC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02055.hp1 others(7): Show HG00642.hp1 HG01433.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0003t0004 a0001c0005t0003 a0001c0003t0003 a0001c0003t0004 a0001c0005t0003	a0001c0003t0003g0342 a0001c0003t0003g0343 a0001c0003t0003g0344 others(7): Show a0001c0003t0003g0342 a0001c0003t0003g0343 a0001c0003t0003g0344 a0001c0003t0003g0345 a0001c0003t0003g0346 a0001c0003t0003g0352 a0001c0003t0003g0354 a0001c0003t0003g0357 a0001c0003t0004g0355 a0001c0005t0003g0353	10	360	0.0278	-9	c.226 others(28): Show c.226+13226_226+13234delGATATATAA		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24						chr10	TogoVar
HERC5_chr4_88452119_88511163	88454898	GGGCACTG others(2): Show GGGCACTGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG01243.hp2 HG02896.hp2 HG02897.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0018 a0001c0001t0001g0238 a0004c0005t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0238 a0004c0005t0001g0003	4	330	0.0121	-9	c.-23 others(20): Show c.-2371_-2363delGGCACTGAA		HERC5	ENSG00000138646.9	transcript	ENST00000264350.8	protein_coding					2220		chr4	TogoVar
HERC6_chr4_88373852_88448097	88439395	AAAGGGAA others(2): Show AAAGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 NA18906.hp2 HG02559.hp2 HG03195.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0006 a0008c0010t0002g0099 a0008c0010t0002g0100 a0008c0010t0002g0006 a0008c0010t0002g0099 a0008c0010t0002g0100	3	174	0.0172	-9	c.255 others(26): Show c.2556-478_2556-470delAAGGGAAGG		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	20/22						chr4	TogoVar
HERPUD2_chr7_35627659_35700135	35668069	GCTAGAAA others(2): Show GCTAGAAATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(162): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0021 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0012 a0002c0002t0020	a0001c0001t0002g0257 a0001c0001t0002g0283 a0001c0001t0004g0229 others(162): Show a0001c0001t0002g0257 a0001c0001t0002g0283 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0370 a0001c0001t0013g0226 a0001c0001t0013g0227 a0001c0001t0021g0391 a0002c0002t0002g0228 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0002g0348 a0002c0002t0002g0349 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0354 a0002c0002t0002g0355 a0002c0002t0002g0356 a0002c0002t0002g0359 a0002c0002t0002g0360 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0366 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0002g0369 a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0002g0373 a0002c0002t0002g0374 a0002c0002t0002g0375 a0002c0002t0002g0376 a0002c0002t0002g0377 a0002c0002t0002g0378 a0002c0002t0002g0379 a0002c0002t0002g0380 a0002c0002t0002g0381 a0002c0002t0002g0382 a0002c0002t0002g0383 a0002c0002t0002g0384 a0002c0002t0002g0385 a0002c0002t0002g0386 a0002c0002t0002g0387 a0002c0002t0002g0388 a0002c0002t0002g0389 a0002c0002t0004g0331 a0002c0002t0009g0315 a0002c0002t0009g0357 a0002c0002t0009g0358 a0002c0002t0009g0361 a0002c0002t0012g0294 a0002c0002t0012g0302 a0002c0002t0012g0322 a0002c0002t0020g0390	165	392	0.4209	-9	c.340 others(24): Show c.340-490_340-482delGATTTCTAG		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	4/8						chr7	TogoVar
HES5_chr1_2523745_2535263	2529579	TGGCGGGC others(2): Show TGGCGGGCGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18944.hp2 NA18955.hp1 NA18960.hp2 others(2): Show NA18944.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	5	427	0.0117	-9	c.382 others(16): Show c.382_390delGCGCCCGCC	p.Ala others(13): Show p.Ala128_Ala130del	HES5	ENSG00000197921.6	transcript	ENST00000378453.4	protein_coding	3/3	489/1324	382/501	128/166			chr1	TogoVar
HEY2_chr6_125744632_125766269	125758153	GTGCCCTA others(2): Show GTGCCCTACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004 a0004c0008 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0003 a0001c0002t0008 a0001c0002t0015 a0001c0007t0002 a0002c0004t0002 a0004c0008t0002 a0005c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0013 others(65): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0003g0022 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0048 a0001c0001t0005g0010 a0001c0001t0005g0067 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0077 a0001c0001t0010g0001 a0001c0001t0010g0046 a0001c0001t0011g0001 a0001c0001t0012g0033 a0001c0001t0013g0013 a0001c0001t0014g0076 a0001c0001t0016g0081 a0001c0001t0017g0010 a0001c0001t0018g0016 a0001c0002t0003g0008 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0084 a0001c0002t0008g0008 a0001c0002t0008g0083 a0001c0002t0015g0008 a0001c0007t0002g0001 a0002c0004t0002g0001 a0002c0004t0002g0014 a0004c0008t0002g0038 a0005c0005t0002g0004	211	400	0.5275	-9	c.329 others(24): Show c.329-952_329-944delCCCTACATG		HEY2	ENSG00000135547.9	transcript	ENST00000368364.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HGSNAT_chr8_43135464_43207855	43195518	AGAAGAGG others(2): Show AGAAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0114 a0001c0001t0001g0115	2	234	0.0086	-9	c.146 others(28): Show c.1465-1418_1465-1410delAGAGGAGGA		HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210370163	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01070.hp1 others(38): Show HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01981.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02300.hp2 HG02572.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03492.hp2 HG03688.hp2 HG04184.hp2 NA18951.hp2 NA18965.hp1 NA18969.hp1 NA18977.hp2 NA18982.hp2 NA18989.hp2 NA18998.hp1 NA19005.hp2 NA19011.hp1 NA19065.hp1 NA19080.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0002t0003 a0003c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0090 others(38): Show a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0248 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0205 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0244 a0001c0001t0003g0254 a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0004g0115 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0210 a0001c0001t0005g0013 a0001c0001t0005g0208 a0001c0001t0006g0102 a0001c0001t0006g0114 a0001c0001t0006g0211 a0001c0001t0014g0209 a0001c0001t0022g0113 a0001c0002t0003g0101 a0003c0004t0001g0110	41	268	0.1530	-9	c.159 others(26): Show c.159+7262_159+7270delTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210410523	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(32): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG01074.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG02080.hp1 HG02148.hp2 HG03669.hp1 HG04199.hp2 HG04204.hp1 NA18939.hp2 NA18944.hp2 NA18952.hp1 NA18961.hp1 NA18973.hp1 NA18982.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19065.hp2 NA19080.hp2 NA19091.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0002c0009 a0005c0008 a0002c0003 a0002c0009 a0005c0008	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(7): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0013 a0002c0003t0020 a0002c0003t0024 a0002c0009t0001 a0005c0008t0003	a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0230 others(32): Show a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0230 a0002c0003t0001g0249 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0260 a0002c0003t0001g0267 a0002c0003t0002g0109 a0002c0003t0002g0247 a0002c0003t0002g0259 a0002c0003t0002g0261 a0002c0003t0002g0264 a0002c0003t0002g0265 a0002c0003t0003g0234 a0002c0003t0003g0236 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0240 a0002c0003t0003g0241 a0002c0003t0003g0251 a0002c0003t0003g0252 a0002c0003t0003g0262 a0002c0003t0004g0119 a0002c0003t0004g0122 a0002c0003t0004g0235 a0002c0003t0004g0242 a0002c0003t0004g0243 a0002c0003t0005g0258 a0002c0003t0013g0250 a0002c0003t0020g0263 a0002c0003t0024g0246 a0002c0009t0001g0266 a0005c0008t0003g0253	35	268	0.1306	-9	c.684 others(26): Show c.684+5858_684+5866delTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210494542	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp1 HG01517.hp1 others(3): Show HG01169.hp2 HG01515.hp1 HG01517.hp1 NA18939.hp2 NA19005.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002	a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0002t0002g0021 others(3): Show a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0002t0002g0021 a0001c0002t0002g0033 a0001c0002t0003g0048 a0002c0003t0002g0109	6	268	0.0224	-9	c.100 others(30): Show c.1008-18592_1008-18584delTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210569373	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02622.hp2 others(6): Show HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG03098.hp1 HG03540.hp1 HG06807.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0076 a0001c0001t0002g0069 a0001c0001t0002g0071 others(6): Show a0001c0001t0001g0076 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0005g0073 a0001c0001t0006g0084 a0001c0001t0007g0070 a0001c0001t0018g0164 a0001c0002t0002g0080 a0001c0002t0008g0141	9	268	0.0336	-9	c.104 others(30): Show c.1044-18507_1044-18499delAAAAAAAAA		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210614018	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01074.hp2 others(20): Show HG00642.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01515.hp2 HG01981.hp1 HG02056.hp1 HG02135.hp2 HG02148.hp2 HG02300.hp1 HG03017.hp2 HG03669.hp1 HG03669.hp2 NA18955.hp1 NA19002.hp2 NA19074.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0020	a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0185 others(20): Show a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0002g0086 a0001c0001t0002g0105 a0001c0001t0003g0154 a0001c0001t0003g0254 a0001c0001t0004g0220 a0001c0001t0006g0108 a0001c0001t0016g0222 a0001c0002t0001g0028 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0003g0215 a0001c0002t0003g0227 a0001c0002t0004g0018 a0001c0002t0004g0030 a0002c0003t0002g0261 a0002c0003t0003g0251 a0002c0003t0004g0242 a0002c0003t0004g0243 a0002c0003t0020g0263	23	268	0.0858	-9	c.124 others(28): Show c.1246-9491_1246-9483delAAAAAAAAA		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210673777	ATTTATTT others(2): Show ATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp1 NA19240.hp1 HG03098.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0008 a0001c0001t0008 a0001c0002t0008	a0001c0001t0008g0004 a0001c0002t0008g0126 a0001c0002t0008g0141 a0001c0001t0008g0004 a0001c0002t0008g0126 a0001c0002t0008g0141	3	268	0.0112	-9	c.139 others(26): Show c.1391-508_1391-500delTATTTATTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99680575	ATAATATA others(2): Show ATAATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(83): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01943.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18940.hp2 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18984.hp1 NA18994.hp2 NA18999.hp2 NA19007.hp1 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0007 others(3): Show a0001c0002 a0001c0003 a0001c0007 a0002c0001 a0002c0004 a0005c0013	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(6): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0003 a0001c0007t0003 a0002c0001t0005 a0002c0001t0021 a0002c0004t0005 a0005c0013t0003	a0001c0002t0002g0187 a0001c0002t0003g0008 a0001c0002t0003g0009 others(80): Show a0001c0002t0002g0187 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0033 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0206 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0254 a0001c0002t0003g0266 a0001c0002t0003g0272 a0001c0002t0003g0313 a0001c0002t0007g0039 a0001c0002t0007g0179 a0001c0002t0007g0191 a0001c0002t0007g0194 a0001c0002t0007g0297 a0001c0003t0003g0124 a0001c0003t0003g0134 a0001c0003t0003g0137 a0001c0007t0003g0277 a0002c0001t0005g0007 a0002c0001t0005g0157 a0002c0001t0005g0164 a0002c0001t0005g0165 a0002c0001t0005g0168 a0002c0001t0005g0169 a0002c0001t0005g0170 a0002c0001t0005g0171 a0002c0001t0005g0172 a0002c0001t0005g0174 a0002c0001t0005g0230 a0002c0001t0021g0076 a0002c0004t0005g0102 a0002c0004t0005g0103 a0002c0004t0005g0109 a0005c0013t0003g0312	86	374	0.2300	-9	c.49 others(20): Show c.4950_*4958delTAATATATT		HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding					7		chr14	TogoVar
HHIPL2_chr1_222517264_222553104	222552222	TAAAAAAA others(2): Show TAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG02027.hp2 others(15): Show HG01109.hp2 HG01261.hp1 HG02027.hp2 HG02055.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02896.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA19030.hp2 NA19067.hp1 NA19077.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0003 a0002c0005 a0003c0007 others(2): Show a0001c0003 a0002c0005 a0003c0007 a0004c0006 a0005c0008	a0001c0003t0001 a0002c0005t0001 a0003c0007t0001 others(2): Show a0001c0003t0001 a0002c0005t0001 a0003c0007t0001 a0004c0006t0001 a0005c0008t0001	a0001c0003t0001g0018 a0001c0003t0001g0033 a0001c0003t0001g0293 others(13): Show a0001c0003t0001g0018 a0001c0003t0001g0033 a0001c0003t0001g0293 a0002c0005t0001g0283 a0002c0005t0001g0287 a0002c0005t0001g0291 a0002c0005t0001g0292 a0003c0007t0001g0223 a0004c0006t0001g0190 a0004c0006t0001g0289 a0005c0008t0001g0042 a0005c0008t0001g0188 a0005c0008t0001g0189 a0005c0008t0001g0280 a0005c0008t0001g0282 a0005c0008t0001g0290	18	418	0.0431	-9	c.-41 others(20): Show c.-4187_-4179delTTTTTTTTT		HHIPL2	ENSG00000143512.13	transcript	ENST00000343410.7	protein_coding					4119		chr1	TogoVar
HIBADH_chr7_27520442_27667883	27613148	TTTATATA others(2): Show TTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp2 NA18747.hp1 others(6): Show HG01255.hp2 HG01346.hp2 NA18747.hp1 NA18941.hp1 NA18945.hp1 NA18949.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0258 a0001c0002t0001g0259 others(6): Show a0001c0002t0001g0246 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0314	9	326	0.0276	-9	c.484 others(28): Show c.484+16214_484+16222delTTTATATAA		HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	4/7						chr7	TogoVar
HIBCH_chr2_190198920_190324826	190265122	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00673.hp1 others(77): Show HG00323.hp2 HG00544.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01169.hp1 HG01257.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02572.hp1 HG02622.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18946.hp1 NA18949.hp1 NA18953.hp1 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0086 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 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 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0006g0232 a0001c0001t0006g0297 a0001c0001t0007g0106 a0001c0001t0010g0088 a0001c0001t0010g0125	80	368	0.2174	-9	c.439 others(26): Show c.439-3897_439-3889delTTTTTTTTT		HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	6/13						chr2	TogoVar
HID1_chr17_74945742_74977759	74976742	ATATATAT others(2): Show ATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01257.hp1 HG02055.hp2 others(8): Show HG01099.hp1 HG01257.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02572.hp1 HG03471.hp2 HG03486.hp1 NA18969.hp2 NA18994.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010 a0001c0019 a0006c0016	a0001c0001t0001 a0001c0003t0003 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0003t0003 a0001c0008t0001 a0001c0010t0001 a0001c0019t0002 a0006c0016t0003	a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0103 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0003t0003g0003 a0001c0008t0001g0017 a0001c0010t0001g0180 a0001c0010t0001g0183 a0001c0019t0002g0188 a0006c0016t0003g0110	11	364	0.0302	-9	c.-40 others(20): Show c.-4095_-4087delATATATATA		HID1	ENSG00000167861.16	transcript	ENST00000425042.7	protein_coding					3984		chr17	TogoVar
HIF1A_chr14_61690513_61753258	61708957	GTGTAATC others(2): Show GTGTAATCTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(53): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01496.hp2 HG02027.hp1 HG02280.hp2 HG03453.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18951.hp2 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0075 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 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 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0002g0273 a0001c0001t0009g0229	56	322	0.1739	-9	c.36- others(26): Show c.36-11424_36-11416delTGTAATCTC		HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	1/14						chr14	TogoVar
HIKESHI_chr11_86297240_86350943	86316771	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp1 HG01975.hp2 others(19): Show HG00408.hp1 HG01496.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02523.hp2 HG02886.hp2 HG02970.hp2 HG03209.hp2 HG04184.hp1 NA18953.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18999.hp1 NA19000.hp1 NA19011.hp2 NA19058.hp1 NA19066.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(18): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0003g0014 a0001c0001t0003g0205 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0002t0001g0230 a0001c0002t0001g0231	22	398	0.0553	-9	c.268 others(28): Show c.268+10321_268+10329delTTTTTTTTT		HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1R_chr12_122830457_122867961	122864109	GCCCCCCC others(2): Show GCCCCCCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01099.hp1 HG01109.hp1 others(19): Show HG00438.hp1 HG01099.hp1 HG01109.hp1 HG02027.hp2 HG02055.hp1 HG02486.hp1 HG02559.hp1 HG02976.hp1 NA18612.hp2 NA18943.hp1 NA18957.hp2 NA18959.hp1 NA18966.hp2 NA18982.hp2 NA18990.hp1 NA18997.hp2 NA19003.hp2 NA19011.hp1 NA19067.hp2 NA19068.hp1 NA19086.hp1 NA20905.hp1	a0002 a0003 a0013 others(1): Show a0002 a0003 a0013 a0014	a0002c0002 a0003c0003 a0013c0020 others(1): Show a0002c0002 a0003c0003 a0013c0020 a0014c0024	a0002c0002t0001 a0002c0002t0004 a0003c0003t0002 others(2): Show a0002c0002t0001 a0002c0002t0004 a0003c0003t0002 a0013c0020t0004 a0014c0024t0002	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0039 others(16): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0039 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0004g0002 a0002c0002t0004g0022 a0002c0002t0004g0063 a0003c0003t0002g0023 a0003c0003t0002g0082 a0003c0003t0002g0083 a0013c0020t0004g0002 a0014c0024t0002g0085	22	348	0.0632	-9	c.23 others(20): Show c.2357_*2365delCCCCCCCCC		HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding					1149		chr12	TogoVar
HIP1_chr7_75528298_75743941	75589564	TTCTAGCT others(2): Show TTCTAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0016 a0001c0001t0002 a0001c0003t0016	a0001c0001t0002g0029 a0001c0003t0016g0137 a0001c0001t0002g0029 a0001c0003t0016g0137	2	254	0.0079	-9	c.384 others(26): Show c.384+2483_384+2491delGTAGCTAGA		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	4/30						chr7	TogoVar
HIP1_chr7_75528298_75743941	75598772	ACCTGTAG others(2): Show ACCTGTAGTC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02809.hp1 others(5): Show HG02145.hp1 HG02622.hp1 HG02809.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023	a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0028 others(5): Show a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0049 a0001c0001t0004g0044 a0001c0001t0013g0231 a0001c0001t0022g0251 a0001c0001t0023g0249	8	254	0.0315	-9	c.184 others(24): Show c.184+403_184+411delGACTACAGG		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30						chr7	TogoVar
HIP1_chr7_75528298_75743941	75602303	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00738.hp2 others(24): Show HG00099.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01261.hp1 HG02040.hp2 HG02129.hp2 HG02486.hp1 HG02647.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA19005.hp1 NA19043.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0027 a0001c0001t0032 a0001c0001t0035 a0001c0003t0002 a0001c0003t0007 a0001c0003t0016 a0001c0003t0024 a0001c0003t0036 a0001c0015t0001 a0001c0023t0014	a0001c0001t0001g0064 a0001c0001t0001g0107 a0001c0001t0001g0108 others(24): Show a0001c0001t0001g0064 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0243 a0001c0001t0002g0056 a0001c0001t0002g0096 a0001c0001t0002g0174 a0001c0001t0002g0235 a0001c0001t0004g0021 a0001c0001t0004g0100 a0001c0001t0004g0178 a0001c0001t0005g0041 a0001c0001t0027g0138 a0001c0001t0032g0141 a0001c0001t0035g0040 a0001c0003t0002g0078 a0001c0003t0007g0066 a0001c0003t0007g0181 a0001c0003t0007g0185 a0001c0003t0016g0024 a0001c0003t0024g0248 a0001c0003t0036g0210 a0001c0015t0001g0055 a0001c0023t0014g0219	27	254	0.1063	-9	c.121 others(26): Show c.121-3065_121-3057delAAAAAAAAA		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30						chr7	TogoVar
HIP1_chr7_75528298_75743941	75640752	CAATAATA others(2): Show CAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00639.hp1 others(56): Show HG00099.hp1 HG00558.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp2 HG03927.hp2 HG04184.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18994.hp1 NA19002.hp1 NA19012.hp1 NA19056.hp1 NA19070.hp1 NA19070.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0018 a0002c0004 a0003c0006 a0006c0012 a0007c0016 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0004 a0001c0002t0008 a0001c0003t0016 a0001c0007t0005 a0001c0018t0001 a0002c0004t0001 a0003c0006t0004 a0006c0012t0001 a0007c0016t0003 a0008c0017t0008	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(56): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0198 a0001c0001t0002g0096 a0001c0001t0002g0122 a0001c0001t0002g0163 a0001c0001t0002g0187 a0001c0001t0002g0235 a0001c0001t0003g0022 a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0003g0128 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0005g0086 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0008g0135 a0001c0001t0012g0063 a0001c0001t0013g0018 a0001c0001t0021g0233 a0001c0001t0027g0138 a0001c0001t0028g0092 a0001c0001t0029g0080 a0001c0001t0030g0234 a0001c0002t0004g0103 a0001c0002t0008g0073 a0001c0003t0016g0137 a0001c0007t0005g0123 a0001c0018t0001g0110 a0002c0004t0001g0003 a0002c0004t0001g0004 a0002c0004t0001g0005 a0002c0004t0001g0006 a0003c0006t0004g0017 a0006c0012t0001g0112 a0007c0016t0003g0136 a0008c0017t0008g0098	59	254	0.2323	-9	c.121 others(28): Show c.121-41514_121-41506delATTATTATT		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30						chr7	TogoVar
HIP1_chr7_75528298_75743941	75651460	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp1 HG02258.hp2 others(21): Show HG01361.hp1 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0014 a0001c0015 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0032 a0001c0002t0001 a0001c0007t0004 a0001c0009t0005 a0001c0014t0026 a0001c0015t0001 a0001c0020t0013	a0001c0001t0001g0023 a0001c0001t0002g0029 a0001c0001t0002g0056 others(21): Show a0001c0001t0001g0023 a0001c0001t0002g0029 a0001c0001t0002g0056 a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0097 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0162 a0001c0001t0004g0013 a0001c0001t0004g0178 a0001c0001t0005g0236 a0001c0001t0006g0025 a0001c0001t0008g0212 a0001c0001t0011g0012 a0001c0001t0013g0231 a0001c0001t0032g0141 a0001c0002t0001g0052 a0001c0007t0004g0011 a0001c0009t0005g0143 a0001c0014t0026g0015 a0001c0015t0001g0055 a0001c0020t0013g0145	24	254	0.0945	-9	c.121 others(28): Show c.121-52222_121-52214delTTTTTTTTT		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30						chr7	TogoVar
HIP1_chr7_75528298_75743941	75739988	TTTTTGTT others(2): Show TTTTTGTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03139.hp1 others(4): Show HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03516.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0016	a0001c0001t0002g0029 a0001c0001t0003g0026 a0001c0001t0003g0028 others(4): Show a0001c0001t0002g0029 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0003t0016g0024	7	254	0.0276	-9	c.-10 others(20): Show c.-1077_-1069delCAAACAAAA		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding					1048		chr7	TogoVar
HIPK2_chr7_139556570_139782998	139670750	TCTTTCTT others(2): Show TCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp2 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0074 a0001c0006t0015 a0001c0003t0074 a0001c0006t0015	a0001c0003t0074g0036 a0001c0006t0015g0116 a0001c0003t0074g0036 a0001c0006t0015g0116	2	154	0.0130	-9	c.110 others(30): Show c.1104-39034_1104-39026delGAAAGAAAG		HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	2/14						chr7	TogoVar
HIPK2_chr7_139556570_139782998	139670751	CTTTCTTT others(2): Show CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(24): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG01109.hp1 HG01257.hp2 HG01496.hp2 HG01515.hp2 HG01943.hp1 HG01952.hp2 HG02056.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02896.hp1 HG03209.hp1 HG03704.hp2 HG03834.hp1 HG04199.hp2 NA18962.hp2 NA18970.hp2 NA18984.hp1 NA19030.hp1 NA19043.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0020 a0001c0001t0021 others(17): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 a0001c0002t0018 a0001c0002t0080 a0001c0002t0084 a0001c0002t0088 a0001c0002t0105 a0001c0003t0007 a0001c0003t0026 a0001c0005t0006 a0001c0005t0061 a0001c0005t0063 a0001c0006t0066	a0001c0001t0001g0104 a0001c0001t0001g0138 a0001c0001t0020g0002 others(24): Show a0001c0001t0001g0104 a0001c0001t0001g0138 a0001c0001t0020g0002 a0001c0001t0021g0004 a0001c0001t0023g0005 a0001c0001t0024g0001 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0091 a0001c0002t0001g0146 a0001c0002t0002g0062 a0001c0002t0002g0087 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0013g0076 a0001c0002t0018g0061 a0001c0002t0018g0068 a0001c0002t0080g0066 a0001c0002t0084g0069 a0001c0002t0088g0147 a0001c0002t0105g0081 a0001c0003t0007g0041 a0001c0003t0026g0007 a0001c0005t0006g0064 a0001c0005t0061g0016 a0001c0005t0063g0078 a0001c0006t0066g0149	27	154	0.1753	-9	c.110 others(30): Show c.1104-39035_1104-39027delAGAAAGAAA		HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	2/14						chr7	TogoVar
HIPK2_chr7_139556570_139782998	139673885	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG02897.hp2 others(2): Show HG02572.hp2 HG02896.hp2 HG02897.hp2 HG03471.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0009 a0001c0002t0002 a0001c0003t0108 others(1): Show a0001c0001t0009 a0001c0002t0002 a0001c0003t0108 a0001c0006t0015	a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0002t0002g0045 others(2): Show a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0002t0002g0045 a0001c0003t0108g0046 a0001c0006t0015g0116	5	154	0.0325	-9	c.110 others(30): Show c.1103+42038_1103+42046delTTTTTTTTT		HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	2/14						chr7	TogoVar

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