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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
HRCT1_chr9_35901202_35912136	35906578	T T	TCACCACC others(14): Show TCACCACCTCCACCACCACCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA20805.hp2 NA20805.hp2	a0073 a0073	a0073c0076 a0073c0076	a0073c0076t0001 a0073c0076t0001	a0073c0076t0001g0000 a0073c0076t0001g0000	1	430	0.0023	21	c.310 others(28): Show c.310_311insTCCACCACCTCCACCACCACC	p.His others(34): Show p.His103_His104insLeuHisHisLeuHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	397/935	311/348	104/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCA TCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp1 HG01358.hp1 HG02559.hp2 others(2): Show HG01081.hp1 HG01358.hp1 HG02559.hp2 HG03831.hp1 HG03927.hp2	a0042 a0048 a0076 others(2): Show a0042 a0048 a0076 a0079 a0084	a0042c0042 a0048c0048 a0076c0080 others(2): Show a0042c0042 a0048c0048 a0076c0080 a0079c0083 a0084c0088	a0042c0042t0001 a0048c0048t0001 a0076c0080t0001 others(2): Show a0042c0042t0001 a0048c0048t0001 a0076c0080t0001 a0079c0083t0001 a0084c0088t0001	a0042c0042t0001g0000 a0048c0048t0001g0000 a0076c0080t0001g0000 others(2): Show a0042c0042t0001g0000 a0048c0048t0001g0000 a0076c0080t0001g0000 a0079c0083t0001g0000 a0084c0088t0001g0000	5	430	0.0116	3	c.314 others(10): Show c.314_316dupACC	p.His others(6): Show p.His105dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCA TCCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp1 HG00621.hp2 HG02074.hp1 others(7): Show HG00609.hp1 HG00621.hp2 HG02074.hp1 HG02132.hp2 HG02895.hp2 HG02897.hp2 NA18612.hp2 NA18942.hp2 NA19010.hp2 NA19058.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0000 a0008c0008t0001g0000	10	430	0.0233	6	c.311 others(13): Show c.311_316dupACCACC	p.His others(13): Show p.His104_His105dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(5): Show TCCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01361.hp1 HG01516.hp1 HG02083.hp2 others(23): Show HG01361.hp1 HG01516.hp1 HG02083.hp2 HG02109.hp2 HG02165.hp1 HG02647.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03225.hp2 HG03540.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18970.hp2 NA18983.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp2 NA19030.hp1 NA19079.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1	a0004 a0016 a0026 others(1): Show a0004 a0016 a0026 a0040	a0004c0004 a0016c0016 a0026c0025 others(1): Show a0004c0004 a0016c0016 a0026c0025 a0040c0079	a0004c0004t0001 a0016c0016t0001 a0026c0025t0001 others(1): Show a0004c0004t0001 a0016c0016t0001 a0026c0025t0001 a0040c0079t0002	a0004c0004t0001g0000 a0016c0016t0001g0000 a0026c0025t0001g0000 others(1): Show a0004c0004t0001g0000 a0016c0016t0001g0000 a0026c0025t0001g0000 a0040c0079t0002g0000	26	430	0.0605	12	c.305 others(19): Show c.305_316dupACCACCACCACC	p.His others(13): Show p.His102_His105dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(8): Show TCCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02451.hp2 HG02630.hp2 HG02922.hp2 others(1): Show HG02451.hp2 HG02630.hp2 HG02922.hp2 HG03098.hp1	a0030 a0041 a0046 a0030 a0041 a0046	a0030c0029 a0041c0041 a0046c0046 a0030c0029 a0041c0041 a0046c0046	a0030c0029t0001 a0041c0041t0001 a0046c0046t0001 a0030c0029t0001 a0041c0041t0001 a0046c0046t0001	a0030c0029t0001g0000 a0041c0041t0001g0000 a0046c0046t0001g0000 a0030c0029t0001g0000 a0041c0041t0001g0000 a0046c0046t0001g0000	4	430	0.0093	15	c.302 others(22): Show c.302_316dupACCACCACCACCACC	p.His others(13): Show p.His101_His105dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(11): Show TCCACCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03130.hp1 HG03130.hp1	a0055 a0055	a0055c0056 a0055c0056	a0055c0056t0001 a0055c0056t0001	a0055c0056t0001g0000 a0055c0056t0001g0000	1	430	0.0023	18	c.316 others(25): Show c.316_317insACCACCACCACCACCACC	p.His others(31): Show p.His105_Pro106insHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(53): Show TCCACCACCACCACCACCACCACCACCACCACCACCCCCACCACCTCCAC CACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03225.hp1 HG03225.hp1	a0054 a0054	a0054c0055 a0054c0055	a0054c0055t0001 a0054c0055t0001	a0054c0055t0001g0000 a0054c0055t0001g0000	1	430	0.0023	60	c.316 others(67): Show c.316_317insACCACCACCACCACCACCCCCACCACCTCCACCACCAC CACCACCACCACCACCACCACC	p.His others(73): Show p.His105_Pro106insHisHisHisHisHisHisProHisHisLeuHi sHisHisHisHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(47): Show TCCACCACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCAC CTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01123.hp1 HG01123.hp1	a0083 a0083	a0083c0087 a0083c0087	a0083c0087t0001 a0083c0087t0001	a0083c0087t0001g0000 a0083c0087t0001g0000	1	430	0.0023	54	c.316 others(61): Show c.316_317insACCACCACCACCCCCACCACACCCCTCACCACCTCCAC CACCACCACCACCACC	p.His others(67): Show p.His105_Pro106insHisHisHisHisProHisHisThrProHisHi sLeuHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(98): Show TCCACCACCACCACCACCACCACCACCACCCCCGCCACACCCCTCACCAC CTCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCA CCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03710.hp1 HG03710.hp1	a0077 a0077	a0077c0081 a0077c0081	a0077c0081t0001 a0077c0081t0001	a0077c0081t0001g0000 a0077c0081t0001g0000	1	430	0.0023	105	c.316 others(112): Show c.316_317insACCACCACCACCCCCGCCACACCCCTCACCACCTCCAC CACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCA CCACCACCACCACCACC	p.His others(118): Show p.His105_Pro106insHisHisHisHisProArgHisThrProHisHi sLeuHisHisHisHisHisProHisHisHisProHisHisThrProHisH isLeuHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(185): Show TCCACCACCACCACCACCACCACCCCCACCGCCACCATCCCCCTCACCAC CACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCA CCACCACCACCACCACCACCACCGCCACCATCCCCCTCACCACCACCACC ACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG01109.hp1	a0058 a0058	a0058c0058 a0058c0058	a0058c0058t0003 a0058c0058t0003	a0058c0058t0003g0000 a0058c0058t0003g0000	1	430	0.0023	192	c.316 others(199): Show c.316_317insACCACCCCCACCGCCACCATCCCCCTCACCACCACCAC CACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCA CCACCACCACCACCACCGCCACCATCCCCCTCACCACCACCACCACCACC ACCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCAC CACC	p.His others(205): Show p.His105_Pro106insHisHisProHisArgHisHisProProHisHi sHisHisHisHisHisHisHisHisProHisHisThrProHisHisLeuH isHisHisHisHisHisHisHisArgHisHisProProHisHisHisHis HisHisHisHisHisHisProHisHisThrProHisHisLeuHisHisHi sHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(35): Show TCCACCACCACCACCACCACCACCCCCGCCACACCCCTCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02572.hp1 HG02572.hp1	a0047 a0047	a0047c0047 a0047c0047	a0047c0047t0001 a0047c0047t0001	a0047c0047t0001g0000 a0047c0047t0001g0000	1	430	0.0023	42	c.316 others(49): Show c.316_317insACCACCCCCGCCACACCCCTCACCACCACCACCACCAC CACC	p.His others(55): Show p.His105_Pro106insHisHisProArgHisThrProHisHisHisHi sHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(44): Show TCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0050 a0050	a0050c0050 a0050c0050	a0050c0050t0001 a0050c0050t0001	a0050c0050t0001g0000 a0050c0050t0001g0000	1	430	0.0023	51	c.316 others(58): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCACCACC	p.His others(64): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(47): Show TCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp2 HG03209.hp2	a0049 a0049	a0049c0049 a0049c0049	a0049c0049t0001 a0049c0049t0001	a0049c0049t0001g0000 a0049c0049t0001g0000	1	430	0.0023	54	c.316 others(61): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCACCACCACC	p.His others(67): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(50): Show TCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03098.hp2 HG06807.hp2 HG03098.hp2 HG06807.hp2	a0060 a0080 a0060 a0080	a0060c0060 a0080c0084 a0060c0060 a0080c0084	a0060c0060t0001 a0080c0084t0001 a0060c0060t0001 a0080c0084t0001	a0060c0060t0001g0000 a0080c0084t0001g0000 a0060c0060t0001g0000 a0080c0084t0001g0000	2	430	0.0047	57	c.316 others(64): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCACCACCACCACC	p.His others(70): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(62): Show TCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03516.hp2 HG03516.hp2	a0059 a0059	a0059c0059 a0059c0059	a0059c0059t0001 a0059c0059t0001	a0059c0059t0001g0000 a0059c0059t0001g0000	1	430	0.0023	69	c.316 others(76): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCACCACCACCACCACCACCACCACC	p.His others(82): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisHisHisHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(134): Show TCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCA CCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18522.hp2 NA18522.hp2	a0051 a0051	a0051c0051 a0051c0051	a0051c0051t0001 a0051c0051t0001	a0051c0051t0001g0000 a0051c0051t0001g0000	1	430	0.0023	141	c.316 others(148): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCC CCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACC ACC	p.His others(154): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH isHisProArgHisThrProHisHisLeuHisHisHisHisHisHisHis HisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(176): Show TCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCA CCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCC GCCACACCCCTCACCACCTCCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp1 HG03453.hp1 HG01255.hp1 HG03453.hp1	a0027 a0027	a0027c0026 a0027c0026	a0027c0026t0001 a0027c0026t0001	a0027c0026t0001g0000 a0027c0026t0001g0000	2	430	0.0047	183	c.316 others(190): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCC CCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCACA CCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCACC	p.His others(196): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH isHisProArgHisThrProHisHisLeuHisHisHisHisHisHisPro ArgHisThrProHisHisLeuHisHisHisHisHisHisHisHisHisHi s	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(83): Show TCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCAC CACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02965.hp1 HG02965.hp1	a0091 a0091	a0091c0095 a0091c0095	a0091c0095t0001 a0091c0095t0001	a0091c0095t0001g0000 a0091c0095t0001g0000	1	430	0.0023	90	c.310 others(97): Show c.310_311insCCCACCACACCCCTCACCACCTCCACCACCACCACCAC CACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCACCA CC	p.His others(103): Show p.His103_His104insProHisHisThrProHisHisLeuHisHisHi sHisHisHisProArgHisThrProHisHisLeuHisHisHisHisHisH isHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	397/935	311/348	104/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCTC others(8): Show TCCACCTCCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp1 HG02818.hp1	a0075 a0075	a0075c0078 a0075c0078	a0075c0078t0001 a0075c0078t0001	a0075c0078t0001g0000 a0075c0078t0001g0000	1	430	0.0023	15	c.304 others(22): Show c.304_305insTCCACCACCACCACC	p.His others(28): Show p.His101_His102insLeuHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	391/935	305/348	102/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCACCACCACCACCACACCCCTCACCACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp2 HG02486.hp2	a0057 a0057	a0057c0054 a0057c0054	a0057c0054t0001 a0057c0054t0001	a0057c0054t0001g0000 a0057c0054t0001g0000	1	430	0.0023	39	c.316 others(46): Show c.316_317insACCACCACCACACCCCTCACCACCTCCACCACCACCAC C	p.His others(52): Show p.His105_Pro106insHisHisHisHisThrProHisHisLeuHisHi sHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCACCACCCCCGCCACACCCCTCACCACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG01496.hp2 HG02015.hp1 others(24): Show HG00408.hp1 HG01496.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02155.hp2 HG02280.hp2 HG02293.hp1 HG02647.hp1 HG03486.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp2 NA18995.hp1 NA19009.hp1 NA19058.hp2 NA19068.hp2 NA19070.hp1 NA19081.hp2 NA19086.hp1	a0007 a0010 a0022 others(3): Show a0007 a0010 a0022 a0028 a0033 a0086	a0007c0007 a0010c0010 a0022c0022 others(3): Show a0007c0007 a0010c0010 a0022c0022 a0028c0027 a0033c0032 a0086c0090	a0007c0007t0001 a0010c0010t0001 a0022c0022t0001 others(3): Show a0007c0007t0001 a0010c0010t0001 a0022c0022t0001 a0028c0027t0001 a0033c0032t0001 a0086c0090t0001	a0007c0007t0001g0000 a0010c0010t0001g0000 a0022c0022t0001g0000 others(3): Show a0007c0007t0001g0000 a0010c0010t0001g0000 a0022c0022t0001g0000 a0028c0027t0001g0000 a0033c0032t0001g0000 a0086c0090t0001g0000	27	430	0.0628	39	c.316 others(46): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC C	p.His others(52): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(8): Show ACCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp1 HG02451.hp1 HG02109.hp1 HG02451.hp1	a0035 a0035	a0035c0034 a0035c0034	a0035c0034t0001 a0035c0034t0001	a0035c0034t0001g0000 a0035c0034t0001g0000	2	430	0.0047	15	c.308 others(22): Show c.308_322dupACCACCACCCCCACC	p.His others(13): Show p.His103_His107dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(41): Show ACCACCACCACCACCCCCACCGCCACCCCCACCACACCCCTCACCACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01169.hp2 HG01169.hp2	a0069 a0069	a0069c0072 a0069c0072	a0069c0072t0001 a0069c0072t0001	a0069c0072t0001g0000 a0069c0072t0001g0000	1	430	0.0023	48	c.328 others(55): Show c.328_329insCCCACCACACCCCTCACCACCTCCACCACCACCACCCC CACCGCCACC	p.His others(61): Show p.His109_His110insProHisHisThrProHisHisLeuHisHisHi sHisProHisArgHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	415/935	329/348	110/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCCCCACCCCCGCCACACCCCTCACCACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02071.hp2 HG02071.hp2	a0072 a0072	a0072c0075 a0072c0075	a0072c0075t0001 a0072c0075t0001	a0072c0075t0001g0000 a0072c0075t0001g0000	1	430	0.0023	39	c.313 others(46): Show c.313_314insCCCACCCCCGCCACACCCCTCACCACCTCCACCACCAC C	p.His others(52): Show p.His104_His105insProHisProArgHisThrProHisHisLeuHi sHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	400/935	314/348	105/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906595	A A	ACCACCAC others(17): Show ACCACCACCACCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03579.hp1 HG03579.hp1	a0082 a0082	a0082c0086 a0082c0086	a0082c0086t0001 a0082c0086t0001	a0082c0086t0001g0000 a0082c0086t0001g0000	1	430	0.0023	24	c.316 others(31): Show c.316_317insACCACCACCACCACCCCCACCACC	p.His others(37): Show p.His105_Pro106insHisHisHisHisHisProHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906595	A A	ACCACCAC others(17): Show ACCACCACCACCCCCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03041.hp2 HG03041.hp2	a0085 a0085	a0085c0089 a0085c0089	a0085c0089t0001 a0085c0089t0001	a0085c0089t0001g0000 a0085c0089t0001g0000	1	430	0.0023	24	c.316 others(31): Show c.316_317insACCCCCACCACCACCCCCACCACC	p.His others(37): Show p.His105_Pro106insHisProHisHisHisProHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906595	A A	ACCACCAC others(41): Show ACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18950.hp1 NA18950.hp1	a0064 a0064	a0064c0064 a0064c0064	a0064c0064t0001 a0064c0064t0001	a0064c0064t0001g0000 a0064c0064t0001g0000	1	430	0.0023	48	c.316 others(55): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CCCCACCACC	p.His others(61): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisProHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906595	A A	ACCACCAC others(71): Show ACCACCACCCCCACCACCACCACCCCCGCCACACCCCTCACCACCTCCAC CACCACCACCCCCACCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19240.hp1 NA19240.hp1	a0087 a0087	a0087c0091 a0087c0091	a0087c0091t0001 a0087c0091t0001	a0087c0091t0001g0000 a0087c0091t0001g0000	1	430	0.0023	78	c.322 others(85): Show c.322_323insACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCCCCACCACCACCACCACCCCCACCACCCCCACC	p.His others(91): Show p.His107_Arg108insHisHisHisProArgHisThrProHisHisLe uHisHisHisHisProHisHisHisHisHisProHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906595	A A	ACCACCAC others(8): Show ACCACCACCCCCACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03139.hp1 HG03139.hp1	a0024 a0024	a0024c0068 a0024c0068	a0024c0068t0001 a0024c0068t0001	a0024c0068t0001g0000 a0024c0068t0001g0000	1	430	0.0023	15	c.315 others(22): Show c.315_329dupCCCCCACCGCCACCA	p.His others(28): Show p.His110_Pro111insProHisArgHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	416/935	330/348	110/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906595	A A	ACCACCCC others(5): Show ACCACCCCCACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19074.hp2 NA19074.hp2	a0045 a0045	a0045c0045 a0045c0045	a0045c0045t0001 a0045c0045t0001	a0045c0045t0001g0000 a0045c0045t0001g0000	1	430	0.0023	12	c.313 others(19): Show c.313_314insCCCACCGCCACC	p.His others(25): Show p.His104_His105insProHisArgHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	400/935	314/348	105/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(11): Show ACCACCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp2 HG00673.hp1 HG01109.hp2 others(17): Show HG00280.hp2 HG00673.hp1 HG01109.hp2 HG01256.hp2 HG01346.hp1 HG01884.hp1 HG02129.hp1 HG02280.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp2 NA18969.hp1 NA18997.hp1 NA19009.hp2 NA19087.hp2	a0006 a0039 a0006 a0039	a0006c0006 a0039c0039 a0006c0006 a0039c0039	a0006c0006t0001 a0006c0006t0005 a0039c0039t0001 a0006c0006t0001 a0006c0006t0005 a0039c0039t0001	a0006c0006t0001g0000 a0006c0006t0005g0000 a0039c0039t0001g0000 a0006c0006t0001g0000 a0006c0006t0005g0000 a0039c0039t0001g0000	20	430	0.0465	18	c.316 others(25): Show c.316_317insACCACCACCACCCCCACC	p.His others(31): Show p.His105_Pro106insHisHisHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(17): Show ACCACCACCACCACCACCCCCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02080.hp1 HG02080.hp1	a0056 a0056	a0056c0057 a0056c0057	a0056c0057t0001 a0056c0057t0001	a0056c0057t0001g0000 a0056c0057t0001g0000	1	430	0.0023	24	c.316 others(31): Show c.316_317insACCACCACCACCCCCACCCCCACC	p.His others(37): Show p.His105_Pro106insHisHisHisHisProHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(5): Show ACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00642.hp1 NA18991.hp1 NA19055.hp1 others(1): Show HG00642.hp1 NA18991.hp1 NA19055.hp1 NA21309.hp2	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0001 a0018c0018t0001	a0018c0018t0001g0000 a0018c0018t0001g0000	4	430	0.0093	12	c.316 others(19): Show c.316_317insACCACCCCCACC	p.His others(25): Show p.His105_Pro106insHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(53): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02895.hp1 NA18522.hp1 HG02895.hp1 NA18522.hp1	a0031 a0031	a0031c0030 a0031c0030	a0031c0030t0001 a0031c0030t0001	a0031c0030t0001g0000 a0031c0030t0001g0000	2	430	0.0047	60	c.316 others(67): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCACCACCACCCCCACC	p.His others(73): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisHisHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(95): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCACCACCA CCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01993.hp2 HG02273.hp1 HG01993.hp2 HG02273.hp1	a0032 a0032	a0032c0031 a0032c0031	a0032c0031t0001 a0032c0031t0001	a0032c0031t0001g0000 a0032c0031t0001g0000	2	430	0.0047	102	c.316 others(109): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCA CCACCACCCCCACC	p.His others(115): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH isHisHisHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(89): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01978.hp2 HG01978.hp2	a0061 a0061	a0061c0061 a0061c0061	a0061c0061t0001 a0061c0061t0001	a0061c0061t0001g0000 a0061c0061t0001g0000	1	430	0.0023	96	c.316 others(103): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCA CCCCCACC	p.His others(109): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH isHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(221): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCA CACCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCACACCCCTC ACCACCTCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTC CACCACCACCACCACCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02148.hp1 HG02148.hp1	a0062 a0062	a0062c0062 a0062c0062	a0062c0062t0001 a0062c0062t0001	a0062c0062t0001g0000 a0062c0062t0001g0000	1	430	0.0023	228	c.316 others(235): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCC CCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCACA CCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCACACCCCTCAC CACCTCCACCACCACCACCACCACCACCACCACCCCCACC	p.His others(241): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH isHisProArgHisThrProHisHisLeuHisHisHisHisHisHisPro ArgHisThrProHisHisLeuHisHisHisHisHisHisProArgHisTh rProHisHisLeuHisHisHisHisHisHisHisHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(35): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18974.hp1 NA19059.hp2 NA18974.hp1 NA19059.hp2	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0001 a0034c0033t0001	a0034c0033t0001g0000 a0034c0033t0001g0000	2	430	0.0047	42	c.316 others(49): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCCC CACC	p.His others(55): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(32): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18956.hp2 NA18966.hp2 NA18980.hp2 others(1): Show NA18956.hp2 NA18966.hp2 NA18980.hp2 NA18982.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0000 a0019c0019t0001g0000	4	430	0.0093	39	c.316 others(46): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCCCCAC C	p.His others(52): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCC ACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG01175.hp2 HG01978.hp1 others(5): Show HG00408.hp2 HG01175.hp2 HG01978.hp1 HG02145.hp2 HG02155.hp1 HG02602.hp1 NA18947.hp2 NA19082.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0000 a0011c0011t0001g0000	8	430	0.0186	6	c.317 others(13): Show c.317_322dupCCCACC	p.Pro others(13): Show p.Pro106_His107dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCCC others(11): Show ACCACCCCCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01256.hp1 HG01258.hp1 HG03471.hp1 others(1): Show HG01256.hp1 HG01258.hp1 HG03471.hp1 NA18954.hp1	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0001 a0020c0020t0001	a0020c0020t0001g0000 a0020c0020t0001g0000	4	430	0.0093	18	c.322 others(25): Show c.322_323insACCACCCCCACCCCCACC	p.His others(31): Show p.His107_Arg108insHisHisProHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCCC others(47): Show ACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCGC CACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA20905.hp2 NA20905.hp2	a0071 a0071	a0071c0073 a0071c0073	a0071c0073t0001 a0071c0073t0001	a0071c0073t0001g0000 a0071c0073t0001g0000	1	430	0.0023	54	c.319 others(61): Show c.319_320insGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CGCCACCCCCACCCCC	p.Pro others(67): Show p.Pro106_His107insArgHisThrProHisHisLeuHisHisHisHi sHisHisArgHisProHisPro	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	406/935	320/348	107/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906602	C C	CCCCCACC others(8): Show CCCCCACCGCCACCAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02622.hp1 HG02818.hp2 HG02622.hp1 HG02818.hp2	a0024 a0024	a0024c0035 a0024c0035	a0024c0035t0001 a0024c0035t0001	a0024c0035t0001g0000 a0024c0035t0001g0000	2	430	0.0047	15	c.320 others(22): Show c.320_334dupACCGCCACCATCCCC	p.His others(13): Show p.His107_Pro111dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	421/935	335/348	112/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906604	C C	CCCACCAC others(86): Show CCCACCACACCCCTCACCACACCCCTCACCACCACCACCACCACCACCAC CCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02300.hp2 NA20752.hp1 HG02300.hp2 NA20752.hp1	a0038 a0038	a0038c0038 a0038c0038	a0038c0038t0001 a0038c0038t0001	a0038c0038t0001g0000 a0038c0038t0001g0000	2	430	0.0047	93	c.322 others(100): Show c.322_323insACACCCCTCACCACACCCCTCACCACCACCACCACCAC CACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA CCACC	p.His others(106): Show p.His107_Arg108insHisThrProHisHisThrProHisHisHisHi sHisHisHisHisProHisHisThrProHisHisLeuHisHisHisHisH isHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906604	C C	CCCACCAC others(47): Show CCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCAC CACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp1 HG01070.hp1 others(2): Show HG00099.hp2 HG00280.hp1 HG01070.hp1 HG03834.hp2 NA20805.hp1	a0021 a0088 a0021 a0088	a0021c0021 a0088c0092 a0021c0021 a0088c0092	a0021c0021t0001 a0088c0092t0001 a0021c0021t0001 a0088c0092t0001	a0021c0021t0001g0000 a0088c0092t0001g0000 a0021c0021t0001g0000 a0088c0092t0001g0000	5	430	0.0116	54	c.322 others(61): Show c.322_323insACCACCCCCACCACACCCCTCACCACCTCCACCACCAC CACCACCACCACCACC	p.His others(67): Show p.His107_Arg108insHisHisProHisHisThrProHisHisLeuHi sHisHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906604	C C	CCCACCAC others(149): Show CCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCAC CCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCA CCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACC ACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA20752.hp2 NA20752.hp2	a0089 a0089	a0089c0093 a0089c0093	a0089c0093t0001 a0089c0093t0001	a0089c0093t0001g0000 a0089c0093t0001g0000	1	430	0.0023	156	c.322 others(163): Show c.322_323insACCACCCCCACCACACCCCTCACCACCTCCACCACCAC CACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCA CCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACC ACCACCACCACCACCACC	p.His others(169): Show p.His107_Arg108insHisHisProHisHisThrProHisHisLeuHi sHisHisHisHisProHisHisHisProHisHisThrProHisHisLeuH isHisHisHisHisProHisHisHisProHisHisThrProHisHisLeu HisHisHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906604	C C	CCCACCAC others(143): Show CCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCCC CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCCCCA CCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACC A	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02738.hp1 HG02738.hp1	a0066 a0066	a0066c0066 a0066c0066	a0066c0066t0001 a0066c0066t0001	a0066c0066t0001g0000 a0066c0066t0001g0000	1	430	0.0023	150	c.322 others(157): Show c.322_323insACCACCCCCACCACACCCCTCACCACCTCCACCACCAC CACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA CCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACC ACCACCACCACC	p.His others(163): Show p.His107_Arg108insHisHisProHisHisThrProHisHisLeuHi sHisHisHisProHisHisHisProHisHisThrProHisHisLeuHisH isHisHisProHisHisHisProHisHisThrProHisHisLeuHisHis HisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906604	C C	CCCACCAC others(110): Show CCCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCAC CCCCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCA CCACCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01981.hp1 HG01981.hp1	a0090 a0090	a0090c0094 a0090c0094	a0090c0094t0001 a0090c0094t0001	a0090c0094t0001g0000 a0090c0094t0001g0000	1	430	0.0023	117	c.322 others(124): Show c.322_323insACCACCCCCGCCACACCCCTCACCACCTCCACCACCAC CACCACCCCCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCA CCTCCACCACCACCACCACCACCACCACC	p.His others(130): Show p.His107_Arg108insHisHisProArgHisThrProHisHisLeuHi sHisHisHisHisProHisHisHisProHisHisHisProHisHisThrP roHisHisLeuHisHisHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	409/935	323/348	108/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906604	C C	CCCACCGC others(83): Show CCCACCGCCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCCC CACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01361.hp2 HG01361.hp2	a0081 a0081	a0081c0085 a0081c0085	a0081c0085t0001 a0081c0085t0001	a0081c0085t0001g0000 a0081c0085t0001g0000	1	430	0.0023	90	c.328 others(97): Show c.328_329insCCCACCACACCCCTCACCACCTCCACCACCACCACCCC CACCACACCCCTCACCACCTCCACCACCACCACCACCACCACCACCGCCA CC	p.His others(103): Show p.His109_His110insProHisHisThrProHisHisLeuHisHisHi sHisProHisHisThrProHisHisLeuHisHisHisHisHisHisHisH isArgHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	415/935	329/348	110/115	INFO_REALIGN_3_PRIME	chr9	TogoVar
HRC_chr19_49146198_49160396	49154632	T T	TTCC TTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(106): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02135.hp1 HG02148.hp2 HG02300.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18967.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0011 a0012 others(8): Show a0002 a0011 a0012 a0013 a0014 a0025 a0030 a0031 a0032 a0033 a0041	a0002c0002 a0002c0017 a0002c0046 others(12): Show a0002c0002 a0002c0017 a0002c0046 a0011c0011 a0012c0014 a0012c0036 a0013c0013 a0014c0019 a0014c0051 a0025c0015 a0030c0047 a0031c0045 a0032c0048 a0033c0030 a0041c0043	a0002c0002t0001 a0002c0017t0001 a0002c0046t0001 others(12): Show a0002c0002t0001 a0002c0017t0001 a0002c0046t0001 a0011c0011t0001 a0012c0014t0001 a0012c0036t0001 a0013c0013t0001 a0014c0019t0001 a0014c0051t0001 a0025c0015t0001 a0030c0047t0001 a0031c0045t0001 a0032c0048t0001 a0033c0030t0001 a0041c0043t0001	a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0015 others(24): Show a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0033 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0017t0001g0022 a0002c0046t0001g0068 a0011c0011t0001g0031 a0011c0011t0001g0032 a0012c0014t0001g0035 a0012c0014t0001g0074 a0012c0036t0001g0048 a0013c0013t0001g0020 a0014c0019t0001g0024 a0014c0051t0001g0073 a0025c0015t0001g0041 a0025c0015t0001g0042 a0030c0047t0001g0069 a0031c0045t0001g0065 a0032c0048t0001g0070 a0033c0030t0001g0044 a0041c0043t0001g0061	109	406	0.2685	3	c.603 others(10): Show c.603_605dupGGA	p.Glu others(6): Show p.Glu202dup	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding	1/6	764/2357	605/2100	202/699		chr19	TogoVar

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