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
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(97): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAA AGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	464	0.0022	104	c.204 others(119): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAGAGAGAAAGAAAGAAAGAA		GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(97): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0058 a0001c0003t0002g0058	1	464	0.0022	104	c.204 others(119): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAA		GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(97): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA AGAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	464	0.0022	104	c.204 others(119): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG AGAGAGAAAGAAAGAAAGAAAGAA		GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128879376	C C	CTCTTTCT others(97): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0031 a0001c0006t0005g0031	1	320	0.0031	104	c.217 others(121): Show c.217+3315_217+3316insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GMEB2_chr20_63582605_63632101	63607371	C C	CCCACATC others(97): Show CCCACATCCATTTCTAGAAACATGCCCCTGTGACCCCACATCCATTTCTA GAAACATGCCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTCT GACCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02717.hp2 others(2): Show HG02451.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0121 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124	5	330	0.0152	104	c.132 others(121): Show c.132-2532_132-2531insAGGTCAGAGGGGCATGTTTCTAGAAATG GAGGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCACAG GGGCATGTTTCTAGAAATGGATGTGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608289	C C	CCCCACAC others(97): Show CCCCACACATCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTC CAGAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCC TCTGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0025 a0001c0005t0008 a0001c0005t0025	a0001c0005t0008g0264 a0001c0005t0008g0266 a0001c0005t0025g0267 a0001c0005t0008g0264 a0001c0005t0008g0266 a0001c0005t0025g0267	3	330	0.0091	104	c.132 others(121): Show c.132-3450_132-3449insTCAGAGGGACATGTTTCTAGAAATGGAT GTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGGG CATGTTTCTAGAAATGGATGTGTGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609417	C C	CCACACAT others(97): Show CCACACATCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTCCA GAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCCTC TGACT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18984.hp1 NA19081.hp2 NA18983.hp2 NA18984.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0135 a0001c0003t0002g0161 a0001c0003t0002g0169 a0001c0003t0002g0135 a0001c0003t0002g0161 a0001c0003t0002g0169	3	330	0.0091	104	c.132 others(121): Show c.132-4578_132-4577insAGTCAGAGGGACATGTTTCTAGAAATGG ATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGTG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609584	A A	ACCCACAC others(97): Show ACCCACACATCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTT CTAGAAACATGTCCCTCTGACCCCACCTCCATTTCTAGAAACATGCCCCT CTGAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0041 a0001c0007t0007g0041	1	330	0.0030	104	c.132 others(121): Show c.132-4745_132-4744insGTCAGAGGGGCATGTTTCTAGAAATGGA GGTGGGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGGGGTCAGAGGGG CATGTTTCTAGAAATGGATGTGTGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMPR_chr6_16233587_16300549	16266420	G G	GTGAAAAA others(97): Show GTGAAAAAGGTGGCACGTCGGACGTGCCACCTTTAAGAGCTGTAACACTC ACTGTGAAAAAGGTGGCACGTCGGACGTGCCACCTTTAAGAGCTGTAACA CTCAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp2 HG02074.hp1 others(10): Show HG00544.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02523.hp2 NA18967.hp2 NA18970.hp1 NA18981.hp2 NA18997.hp1 NA19001.hp1 NA19074.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0001 a0001c0003t0003 a0002c0007t0002 a0001c0003t0001 a0001c0003t0003 a0002c0007t0002	a0001c0003t0001g0023 a0001c0003t0001g0217 a0001c0003t0001g0227 others(10): Show a0001c0003t0001g0023 a0001c0003t0001g0217 a0001c0003t0001g0227 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0219 a0001c0003t0003g0220 a0001c0003t0003g0221 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0003g0228 a0001c0003t0003g0229 a0002c0007t0002g0116	13	344	0.0378	104	c.466 others(121): Show c.466-7947_466-7946insCACTGTGAAAAAGGTGGCACGTCGGACG TGCCACCTTTAAGAGCTGTAACACTCACTGAAAAAGGTGGCACGTCGGAC GTGCCACCTTTAAGAGCTGTAACACT		GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GNG13_chr16_793041_805734	798368	G G	GGGGCTCA others(97): Show GGGGCTCACAGGATGGTGGGAGTGGGGCCGGCAGTGGGGCTCACAGGATG GTGGGAGTGGGGCCGGGCGTGGGGCTCACAGGATAGAGTGAGTGGGGCCG GGCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0034 a0001c0002t0013g0034	1	422	0.0024	104	c.35 others(113): Show c.350_*351insACGCCCGGCCCCACTCACTCTATCCTGTGAGCCCCA CGCCCGGCCCCACTCCCACCATCCTGTGAGCCCCACTGCCGGCCCCACTC CCACCATCCTGTGAGCCC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding	3/3				350		chr16	TogoVar
GNG13_chr16_793041_805734	798368	G G	GGGGCTCA others(97): Show GGGGCTCACAGGATGGTGGGAGTGGGGCCGGGAGTGGGGCTCACAGGATG GTGGGAGTGGGGCCGGGCGTGGGGCTCACAGGATAGAGTGAGTGGGGCCG GGCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG02080.hp2 others(16): Show HG00558.hp1 HG00642.hp1 HG02080.hp2 HG02602.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18950.hp2 NA18956.hp1 NA18969.hp2 NA18986.hp1 NA19006.hp1 NA19009.hp1 NA19055.hp2 NA19057.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0032 a0001c0002t0003g0005 a0001c0002t0003g0032	19	422	0.0450	104	c.35 others(113): Show c.350_*351insACGCCCGGCCCCACTCACTCTATCCTGTGAGCCCCA CGCCCGGCCCCACTCCCACCATCCTGTGAGCCCCACTCCCGGCCCCACTC CCACCATCCTGTGAGCCC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding	3/3				350		chr16	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440178	C C	CCTCCTGC others(97): Show CCTCCTGCTCCCGCATCATCTCCTCTCCTCCTGCATCTTCTTCTCCCGCT CCCGCATGCTCTCCTCCTCTCGCATCTTCTCCTGGTCCCATGTCTTCTTC TCCTG	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp1	a0000 a0000	a0000c0051 a0000c0051	a0000c0051t0001 a0000c0051t0001	a0000c0051t0001g0067 a0000c0051t0001g0067	1	396	0.0025	104	c.229 others(113): Show c.2296_2297insCAGGAGAAGAAGACATGGGACCAGGAGAAGATGCGA GAGGAGGAGAGCATGCGGGAGCGGGAGAAGAAGATGCAGGAGGAGAGGAG ATGATGCGGGAGCAGGAG	p.Gly others(5): Show p.Gly766fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2358/3499	2296/2730	766/909			chr15	TogoVar
GPC6_chr13_93221807_94413020	93510991	A A	ATATATGT others(97): Show ATATATGTGTATATATATGTATATATATGTGTATATATATGTGTATATAT ATGTATATATATGTGTATATATATGTGTATATATATATGTGTGTATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0059 a0001c0001t0010g0059	1	76	0.0132	104	c.161 others(123): Show c.161-34267_161-34266insGTGTATATATATGTATATATATGTGT ATATATATGTGTATATATATGTATATATATGTGTATATATATGTGTATAT ATATATGTGTGTATATATATGTGTATAT		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5568230	G G	GTATATAT others(97): Show GTATATATATATATATATATACTTAGTATATATATATATATATATACTTA GTATATATATATATATATATACTTAGTATATATATATATATATATACTTA GTATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0108 a0001c0001t0018g0108	1	386	0.0026	104	c.115 others(121): Show c.1150-671_1150-670insTATACTAAGTATATATATATATATATAT ACTAAGTATATATATATATATATATACTAAGTATATATATATATATATAT ACTAAGTATATATATATATATATATA		GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	12/19						chr20	TogoVar
GPHN_chr14_66503147_67186803	66683371	T T	TATGTTCA others(97): Show TATGTTCATATATATATGTTCATATATATATGTTCATATATATGTATATG TTCATATATATGTACATATATATGTTCATATATATATGTTCATATATATA TGTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03195.hp1 HG03471.hp2 HG01071.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024	3	234	0.0128	104	c.143 others(121): Show c.143+2188_143+2189insGTTCATATATATATGTTCATATATATAT GTTCATATATATGTATATGTTCATATATATGTACATATATATGTTCATAT ATATATGTTCATATATATATGTTCAT		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218186	C C	CCCCAACA others(97): Show CCCCAACACCACCCCCACACCCACCCCCCACACCACCCCCAACACCACCC CCCACACCGACCCCCAACACCACCCCCAACACCACCCCCCAACACCACCC CCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0002 a0001c0003t0012g0002	1	106	0.0094	104	c.26 others(115): Show c.2668_*2669insCCCAACACCACCCCCACACCCACCCCCCACACCA CCCCCAACACCACCCCCCACACCGACCCCCAACACCACCCCCAACACCAC CCCCCAACACCACCCCCCAA		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1017		chr8	TogoVar
GPR137B_chr1_236137539_236213907	236186277	A A	ATCTATAA others(97): Show ATCTATAATATATAATATAAATAATATATAATATATATTATATATTATAT ATAATATATATAATATATAATATATATTATATATTATATATAATATATAT AATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19078.hp1 NA18986.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0112 a0001c0001t0011g0368 a0001c0001t0008g0112 a0001c0001t0011g0368	2	386	0.0052	104	c.966 others(121): Show c.966+2371_966+2372insTCTATAATATATAATATAAATAATATAT AATATATATTATATATTATATATAATATATATAATATATAATATATATTA TATATTATATATAATATATATAATAT		GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6						chr1	TogoVar
GPR139_chr16_20023239_20078890	20041250	G G	GGAGAGGA others(97): Show GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG01516.hp1 others(8): Show HG01099.hp2 HG01433.hp1 HG01516.hp1 HG02074.hp2 HG02165.hp2 HG02615.hp1 HG02809.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0038 a0001c0002t0001 a0001c0002t0004	a0001c0001t0002g0078 a0001c0001t0002g0098 a0001c0001t0011g0336 others(8): Show a0001c0001t0002g0078 a0001c0001t0002g0098 a0001c0001t0011g0336 a0001c0001t0011g0352 a0001c0001t0014g0181 a0001c0001t0038g0235 a0001c0002t0001g0008 a0001c0002t0001g0129 a0001c0002t0004g0257 a0001c0002t0004g0258 a0001c0002t0004g0305	11	364	0.0302	104	c.128 others(121): Show c.128-8582_128-8581insTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTC		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GPR15LG_chr10_84168801_84190294	84181050	T T	TGGCTCAG others(97): Show TGGCTCAGCATCAGAGGGAGACCGTGCAAAGAGGAGGGAGAGGGAGAGGC CTGGGCTCAGCATCAGAGGGAGACCGTGCAAAGAGGAGGGAGAGGGAGAG GCCTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	458	0.0022	104	c.161 others(121): Show c.161-3531_161-3530insCCTGGGCTCAGCATCAGAGGGAGACCGT GCAAAGAGGAGGGAGAGGGAGAGGCCTGGGCTCAGCATCAGAGGGAGACC GTGCAAAGAGGAGGGAGAGGGAGAGG		GPR15LG	ENSG00000188373.5	transcript	ENST00000372126.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRAMD1A_chr19_34995323_35031469	35022695	A A	AGGATGGA others(97): Show AGGATGGAGCCTGCAGGAGCTGGGGGGCAGGACGCTGGGAGGAAACAGAA GCGGGATGGAGCCTGCAGGAGCTGGCGGGCAGGACGCTGGGAGGAAACAG AAGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	362	0.0028	104	c.184 others(121): Show c.1842-201_1842-200insGGAGCCTGCAGGAGCTGGGGGGCAGGAC GCTGGGAGGAAACAGAAGCGGGATGGAGCCTGCAGGAGCTGGCGGGCAGG ACGCTGGGAGGAAACAGAAGCGGGAT		GRAMD1A	ENSG00000089351.15	transcript	ENST00000317991.10	protein_coding	16/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
GRHL1_chr2_9946693_10007277	9998525	T T	TATATACG others(97): Show TATATACGTATATATATACGTATATATACGTATATATATACGTATATATA TACGTATATATATACGTATATACGTATATATACATATATATACGTATATA TATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	418	0.0024	104	c.167 others(121): Show c.1678-435_1678-434insCGTATATATATACGTATATATACGTATA TATATACGTATATATATACGTATATATATACGTATATACGTATATATACA TATATATACGTATATATATACATATA		GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998867	T T	TATATGTA others(97): Show TATATGTACACATATATATGTACACATATATGTATACATATATATGTACA CATATATATGTACACATATATGTACACATATATATGTACACATATATATG TACAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	418	0.0024	104	c.167 others(119): Show c.1678-94_1678-93insGTACACATATATATGTACACATATATGTAT ACATATATATGTACACATATATATGTACACATATATGTACACATATATAT GTACACATATATATGTACACATAT		GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIA2_chr4_157215728_157371075	157256238	A A	ATATTACA others(97): Show ATATTACATATATATGTTATATATTATATATAATATATAACATATATTAC ATATATATGTTATATATTATATATAATATATAATATTATATATAATATAT AATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	216	0.0046	104	c.229 others(123): Show c.229+34434_229+34435insTACATATATATGTTATATATTATATA TAATATATAACATATATTACATATATATGTTATATATTATATATAATATA TAATATTATATATAATATATAATATTAT		GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIA3_chrX_123179278_123495915	123260418	C C	CAGAAAGA others(97): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	207	0.0048	104	c.508 others(121): Show c.508+6879_508+6880insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAAGA		GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
GRID2_chr4_92298966_93779566	92460045	T T	TACATATA others(97): Show TACATATATATATATATATATATATATATATATATATACGTATATATATA TATATATATATATATACACATATATATATATATATATATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	34	0.0294	104	c.89- others(123): Show c.89-130085_89-130084insCATATATATATATATATATATATATA TATATATATACGTATATATATATATATATATATATATACACATATATATA TATATATATATATATATATATATATACA		GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRP_chr18_59215158_59235771	59234059	G G	GTATATAT others(97): Show GTATATATATTATATATATAGTATATATATTATATATACTATATAGTATA TTATATATATATTATATATATAGTATATATATTATATATACTATATAGTA TATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18955.hp1 NA18991.hp1 others(1): Show NA18939.hp2 NA18955.hp1 NA18991.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0108	4	408	0.0098	104	c.35 others(115): Show c.3591_*3592insTATATATATTATATATATAGTATATATATTATAT ATACTATATAGTATATTATATATATATTATATATATAGTATATATATTAT ATATACTATATAGTATATTA		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3289		chr18	TogoVar
GTF2H5_chr6_158163350_158204344	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATATAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01192.hp1 others(15): Show HG00140.hp1 HG00323.hp1 HG01192.hp1 HG01243.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG03486.hp1 HG03516.hp2 HG03834.hp1 NA19056.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0036 others(8): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0092 a0001c0001t0095 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0124	a0001c0001t0017g0015 a0001c0001t0017g0284 a0001c0001t0017g0295 others(14): Show a0001c0001t0017g0015 a0001c0001t0017g0284 a0001c0001t0017g0295 a0001c0001t0018g0015 a0001c0001t0018g0016 a0001c0001t0018g0293 a0001c0001t0036g0290 a0001c0001t0037g0042 a0001c0001t0037g0288 a0001c0001t0041g0016 a0001c0001t0041g0294 a0001c0001t0092g0291 a0001c0001t0095g0042 a0001c0001t0098g0289 a0001c0001t0101g0292 a0001c0001t0102g0286 a0001c0001t0124g0016	18	384	0.0469	104	c.-34 others(119): Show c.-34-757_-34-756insGTATAATATATTGTATATTGTATAATATAT TGTATATTGTATATTATATAATATATTGTATATTATATGTAATATATTGT ATATTATATATTATATAATATATT		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATATAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TGTAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02818.hp2 HG02572.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0096 a0001c0001t0097 a0001c0001t0090 a0001c0001t0096 a0001c0001t0097	a0001c0001t0090g0281 a0001c0001t0096g0282 a0001c0001t0097g0283 a0001c0001t0090g0281 a0001c0001t0096g0282 a0001c0001t0097g0283	3	384	0.0078	104	c.-34 others(119): Show c.-34-757_-34-756insGTATAATATATTGTATATTGTATAATATAT TGTATATTGTATATTATATAATATATTGTATATTATATGTAATATATTGT ATATTATATATTATGTAATATATT		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATGTAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TATAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp1 HG01256.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0043 a0001c0001t0035g0043	2	384	0.0052	104	c.-34 others(119): Show c.-34-757_-34-756insGTATAATATATTGTATATTGTATAATATAT TGTATATTGTATATTATGTAATATATTGTATATTATATGTAATATATTGT ATATTATATATTATATAATATATT		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP4_chr10_983434_1024932	1011138	C C	CCTCTTCA others(97): Show CCTCTTCATTCTCCTGCACCCCTCCATCCTGACTGTGCCTCCTGCACCAC CTTCCCCCCCACCCTGTGTCTCCGCCAGGCCCTGGATGGGCTCTGCTGTG CTGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00639.hp1 others(3): Show HG00323.hp1 HG00597.hp2 HG00639.hp1 HG02015.hp2 NA19067.hp1 NA19083.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0009c0011	a0001c0001t0002 a0001c0002t0002 a0001c0002t0050 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0050 a0002c0003t0006 a0009c0011t0014	a0001c0001t0002g0278 a0001c0002t0002g0143 a0001c0002t0002g0171 others(3): Show a0001c0001t0002g0278 a0001c0002t0002g0143 a0001c0002t0002g0171 a0001c0002t0050g0064 a0002c0003t0006g0096 a0009c0011t0014g0118	6	370	0.0162	104	c.134 others(121): Show c.1344+619_1344+620insTCTTCATTCTCCTGCACCCCTCCATCCT GACTGTGCCTCCTGCACCACCTTCCCCCCCACCCTGTGTCTCCGCCAGGC CCTGGATGGGCTCTGCTGTGCTGGGC		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
GUCA2A_chr1_42157690_42169745	42166942	T T	TGTGTGTG others(97): Show TGTGTGTGTATACACTGAGGTGCGTGTGTGTGCTGAGGTGTGTGTGTGCT GACATGTGTGTATACACTGAGGTGCGTGTATGTGCTGAGGTGTGTGAGTG CTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0022 a0001c0007t0001g0022	1	436	0.0023	104	c.-22 others(115): Show c.-2231_-2230insGTCAGCACTCACACACCTCAGCACATACACGCAC CTCAGTGTATACACACATGTCAGCACACACACACCTCAGCACACACACGC ACCTCAGTGTATACACACAC		GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding					2198		chr1	TogoVar
GZMM_chr19_539053_554922	550457	T T	TGTCACCC others(97): Show TGTCACCCCAGCACCCCGAAACAGGCCCGTCCCCAGTCACCCCAGCACCC CGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGT CCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	398	0.0025	104	c.66 others(113): Show c.666_*667insGTCACCCCAGCACCCCGAAACAGGCCCGTCCCCAGT CACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCG AAAACAGGCCCGTCCCCA		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					536		chr19	TogoVar
GZMM_chr19_539053_554922	550462	C C	CCCCAGCA others(97): Show CCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAA AACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCC AGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01516.hp1 HG00099.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	398	0.0050	104	c.67 others(113): Show c.671_*672insCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACC CCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAA CAGGCCCGTCCCCAGTCA		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					541		chr19	TogoVar
GZMM_chr19_539053_554922	550627	T T	TCACCCCA others(97): Show TCACCCCAGCACCCCAAAAACAGCCCTGTCCCCACTGTCACCCCAGCACC CCGAAAACAGGCCTGTCCCCACTGTCACCCCAGCACCCCGAAAACAGGCC CGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA19000.hp2 NA18993.hp1 NA19000.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0238 a0001c0007t0002g0240 a0001c0007t0002g0238 a0001c0007t0002g0240	2	398	0.0050	104	c.83 others(113): Show c.836_*837insCACCCCAGCACCCCAAAAACAGCCCTGTCCCCACTG TCACCCCAGCACCCCGAAAACAGGCCTGTCCCCACTGTCACCCCAGCACC CCGAAAACAGGCCCGTCC		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					706		chr19	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(97): Show CATATATATATATATATATATATATATATATATATATATATATACGTATA TATATGTGTATATATATATGTATATATATATATATATACACATATATATA CGTAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	428	0.0023	104	c.771 others(121): Show c.771+2337_771+2338insTATATATATATACGTATATATATGTGTA TATATATATGTATATATATATATATATACACATATATATACGTATATATA TATATATATATATATATATATATATA		HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(97): Show CATATATATATATATATATATATATATATATATATATATATATATATATA CGTATATATATGTGTATATATATATGTATATATATATATATATACACATA TATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	428	0.0023	104	c.771 others(121): Show c.771+2337_771+2338insTATATATATATATATATACGTATATATA TGTGTATATATATATGTATATATATATATATATACACATATATATATATA TATATATATATATATATATATATATA		HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
HAP1_chr17_41717640_41739643	41730127	A A	AAGAGAAA others(97): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0241 a0008c0007t0002g0241	1	374	0.0027	104	c.106 others(123): Show c.1069+1365_1069+1366insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCT		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10						chr17	TogoVar
HBM_chr16_160978_171764	164711	G G	GGCGGGGC others(97): Show GGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCCGCGGGGCGGGGCGGG GTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCG GGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	104	c.-12 others(115): Show c.-1287_-1286insGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCC GCGGGGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGG CGGGGTCGCGGGGCGGGGTC		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1266		chr16	TogoVar
HBQ1_chr16_175459_186179	186115	C C	CGGGAGGA others(97): Show CGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCGAC ACGGGGAACAGCGACACGGGAGGAACAGCGACACGGGAGGAACAGCGACA CGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	384	0.0026	104	c.50 others(115): Show c.5007_*5008insGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGAGGAACAGCGACACGGGGAACAGCGACACGGGAGGAACAGCGACACG GGAGGAACAGCGACACGGGA		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding					4937		chr16	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(97): Show TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0071 a0001c0014t0003g0071	1	408	0.0025	104	c.633 others(121): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTC		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605592	T T	TGGGGACC others(97): Show TGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACAGA GGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACA GAGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0357 a0002c0038t0001g0357	1	408	0.0025	104	c.121 others(121): Show c.1218+421_1218+422insCGGGGACCCAGGCGCCCCCTTATGGAGG GGAGGACTCGGGCCCTTACAGAGGCGGGGACCCAGGCGCCCCCTTATGGA GGGGAGGACTCGGGCCCTTACAGAGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HERC6_chr4_88373852_88448097	88379812	T T	TATATATA others(97): Show TATATATAATATATAAATATATATATAACATATAAATATATATAACATAT AAATATATATATAACATATAAATATATATAATATATAAATATATATAACA TATAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	174	0.0058	104	c.199 others(119): Show c.199+699_199+700insATATATAAATATATATATAACATATAAATA TATATAACATATAAATATATATATAACATATAAATATATATAATATATAA ATATATATAACATATAAATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379812	T T	TATATATA others(97): Show TATATATAATATATAAATATATATATAACATATAAATATATATAATATAT AAATATATATATAACATATAAATATATATAATATATAAATATATATAACA TATAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03927.hp1 NA18971.hp1 HG02523.hp2 HG03927.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0153 a0002c0002t0001g0150 a0002c0002t0001g0168 a0001c0001t0001g0153 a0002c0002t0001g0150 a0002c0002t0001g0168	3	174	0.0172	104	c.199 others(119): Show c.199+699_199+700insATATATAAATATATATATAACATATAAATA TATATAATATATAAATATATATATAACATATAAATATATATAATATATAA ATATATATAACATATAAATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379937	T T	TATATATA others(97): Show TATATATAATATATAAATATATATAATATATAAATATATATATAATATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATAATA TATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02647.hp2 HG02809.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0004 a0005c0007t0001g0003 a0001c0001t0001g0004 a0005c0007t0001g0003	2	174	0.0115	104	c.199 others(119): Show c.199+824_199+825insATATATAAATATATATAATATATAAATATA TATATAATATATAAATATATATAATATATAAATATATATATAATATATAA ATATATATAATATATAAATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380376	T T	TATAAATA others(97): Show TATAAATATATATATAATATATAAATATATATAATATATATATAATATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATATAA TATAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02165.hp1 HG03209.hp1 others(6): Show HG01257.hp1 HG02165.hp1 HG03209.hp1 NA18939.hp2 NA18959.hp2 NA18979.hp2 NA18983.hp2 NA19000.hp1 NA20905.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0013 a0001c0001 a0002c0002 a0010c0013	a0001c0001t0001 a0002c0002t0001 a0010c0013t0001 a0001c0001t0001 a0002c0002t0001 a0010c0013t0001	a0001c0001t0001g0070 a0001c0001t0001g0154 a0001c0001t0001g0155 others(6): Show a0001c0001t0001g0070 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0167 a0010c0013t0001g0151	9	174	0.0517	104	c.199 others(121): Show c.199+1259_199+1260insAATATATATATAATATATAAATATATAT AATATATATATAATATATAAATATATATAATATATAAATATATATATAAT ATATAAATATATATATAATATAAATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HGS_chr17_81679011_81707121	81686754	G G	GCTGCTGT others(97): Show GCTGCTGTCCCACCGGGTTCCCCACCGGCCACTGACGGGCCTGTCGAAGG GCTCTGCTGTCCCACCGGGTTCCCCACCGGCCACTGACGGGCCTGTCGAA GGGCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18954.hp2 HG02015.hp1 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0095 a0002c0002t0002g0083 a0002c0002t0002g0095	2	414	0.0048	104	c.199 others(119): Show c.199-175_199-174insACCGGCCACTGACGGGCCTGTCGAAGGGCT CTGCTGTCCCACCGGGTTCCCCACCGGCCACTGACGGGCCTGTCGAAGGG CTCTGCTGTCCCACCGGGTTCCCC		HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
HIGD1C_chr12_50947544_50975607	50948917	G G	GGGGGGAG others(97): Show GGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGACGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0010	1	380	0.0026	104	c.-38 others(115): Show c.-3862_-3861insGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGACGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3626		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948917	G G	GGGGGGAG others(97): Show GGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA18962.hp1 NA18986.hp1 others(2): Show HG04199.hp2 NA18962.hp1 NA18986.hp1 NA18998.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0176	5	380	0.0132	104	c.-38 others(115): Show c.-3862_-3861insGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3626		chr12	TogoVar
HIPK4_chr19_40374271_40395181	40377299	C C	CACAGGCA others(97): Show CACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGCAGAGGGGT CAGGGCTGGGATGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAG GAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0013 a0014 a0015	a0001c0001 a0001c0014 a0005c0008 others(4): Show a0001c0001 a0001c0014 a0005c0008 a0006c0007 a0013c0018 a0014c0015 a0015c0016	a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 a0005c0008t0001 a0006c0007t0001 a0013c0018t0001 a0014c0015t0001 a0015c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0077 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0003g0056 a0001c0014t0001g0141 a0005c0008t0001g0049 a0005c0008t0001g0151 a0006c0007t0001g0136 a0006c0007t0001g0142 a0006c0007t0001g0145 a0013c0018t0001g0144 a0014c0015t0001g0161 a0015c0016t0001g0143	147	382	0.3848	104	c.22 others(115): Show c.2287_*2288insACCTCCTCCATCCCAGCCCTGACCCCTCTGCCTG TGCCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTACCTCCTCCATCCCA GCCCTGACCCCTCTGCCTGT		HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding					1971		chr19	TogoVar
HMOX1_chr22_35376096_35399207	35389395	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	384	0.0026	104	c.637 others(119): Show c.637-466_637-465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTT		HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr22	TogoVar

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