Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(209): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	274	0.0037	216	c.200 others(233): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VSTM2B_chr19_29520994_29569551	29566198	T T	TTGATGGG others(209): Show TTGATGGGCACAGGGGAGGGGGCAGGTGTGATGGGCACAGGGGAGGGGGC AGGTGTGATGGGCACAGGGGAGGGGGCAGGTGTGATGGGCACAGGGGAGG GGACAGGTGTGATGGGTACAGGGGAGGGGACAGGTGTGATGGGTACAGGG GAGGGGACAGGTGTGATGGGCACAGGGGAGGGGACAGGTGTGATGGGTAC AGGGGAGGGGACAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	406	0.0025	216	c.22 others(227): Show c.2264_*2265insTGATGGGCACAGGGGAGGGGGCAGGTGTGATGGG CACAGGGGAGGGGGCAGGTGTGATGGGCACAGGGGAGGGGGCAGGTGTGA TGGGCACAGGGGAGGGGACAGGTGTGATGGGTACAGGGGAGGGGACAGGT GTGATGGGTACAGGGGAGGGGACAGGTGTGATGGGCACAGGGGAGGGGAC AGGTGTGATGGGTACAGGGGAGGGGACAGGTG	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding		1648		chr19	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(209): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	242	0.0041	216	c.917 others(235): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(209): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	242	0.0041	216	c.917 others(235): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGA GTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(209): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	242	0.0041	216	c.917 others(235): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTAC TCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGA GTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(209): Show ATATATAATATATATATATAATATATATATATATAATATATATATATATT ATATATATATAATATATATATTATATATATATTATATATATATAATATAT ATTATATATATATAATATATATATAATATATATATTATATATATATAATA TATATATTATATATATATAATATATATATATATTATATATATTATATATA TATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG03688.hp1 HG02015.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	330	0.0061	216	c.38 others(227): Show c.3884_*3885insATTATATATATATTATATATATATAATATATATA ATATATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATTATATATATATTATATATATATAATATATATTATATATATAT AATATATATATAATATATATATTATATATATATAATATATATATATATTA TATATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WFIKKN1_chr16_625985_639117	631760	T T	TCCTCTCC others(209): Show TCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCAC CCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCAC TTCTTCCATCCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCT CCTATCCACTCCTCCCATCCACTTTTTCCATCCTCTTCTCTCACCCCGTC ACTGCCTCTCCTCCCAC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0022 a0001c0002t0011g0022	1	404	0.0025	216	c.171 others(231): Show c.171+344_171+345insATCCACTCCTCCCATCCACTTCTTCCATCC TCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCACTC CTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCATCACTGCCTCTCC TTCCATCCTCTCCTATCCACTCCTCCCATCCACTTTTTCCATCCTCTTCT CTCACCCCGTCACTGCCTCTCCTCCCACCCTCTCCT	WFIKKN1	ENSG00000127578.7	transcript	ENST00000319070.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(209): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT TATATAAATATATTTTAAAATATGTATTATATATAATATATATTTTTAAA TATATATTATATATAAATATATTTTTAAATATATATTATATATAAATATA TTTTTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02293.hp2 HG02723.hp1 others(2): Show HG00642.hp2 HG02293.hp2 HG02723.hp1 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0036 a0001c0001t0024 a0001c0001t0036	a0001c0001t0024g0026 a0001c0001t0024g0303 a0001c0001t0036g0302 others(1): Show a0001c0001t0024g0026 a0001c0001t0024g0303 a0001c0001t0036g0302 a0001c0001t0036g0304	5	394	0.0127	216	c.39+ others(231): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTTATATAT AATATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATAT ATTATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAA TATATATTATATATAATATATATTTAAAAATATATTATATATAATATATA TTTAAAAATATATTATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
YJU2B_chr19_13742895_13768289	13764287	A A	ACGTGGAA others(209): Show ACGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCC GTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGT GGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGG AATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGGAA TCCGCGTCCTGGGAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	432	0.0023	216	c.12 others(227): Show c.1219_*1220insCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCC GCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGC GTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGT CCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCC TGGGAACCCGTGGAATCCGCGTCCTGGGAACC	YJU2B	ENSG00000104957.14	transcript	ENST00000221554.13	protein_coding		999		chr19	TogoVar
ZFPM2_chr8_105313438_105809539	105380794	T T	TTATAATA others(209): Show TTATAATATATATAATATATAATATATATGTTATATATATTATAATATAT ATAATATATATATTATATGTTATATATATTATAATATATATAACATATAA TATATATGTTATATATATTATAATATATATAACATATAATATATATGTTA TATATATTATAATATATATAACATATAATATATATGTTATATATATTATA ATATATATAACATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0059 a0010c0015t0001g0059	1	92	0.0109	216	c.41- others(233): Show c.41-38346_41-38345insATATATATAATATATAATATATATGTTA TATATATTATAATATATATAATATATATATTATATGTTATATATATTATA ATATATATAACATATAATATATATGTTATATATATTATAATATATATAAC ATATAATATATATGTTATATATATTATAATATATATAACATATAATATAT ATGTTATATATATTATAATATATATAACATATAATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792639	A A	AGGGGAGG others(209): Show AGGGGAGGGGAGGGGAGGGGGAGGAGAGGGGAGGAGGGGGAGAGGAGGAG AGGGGAGGGGAGGAGAGGGGAGGGGGGGAGGGAAGGAGAGGGTAGAGGAG GAGAGGTAGAGAGGAGAGGGAGGGGAGGGGAGAGGGGAGGGAGGAGAGGG GAGGGGAGGAGAGGGGAGGGGAGGAGAGGGAGGGAGGGGAGGAGGGGAGA GGAGGAGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	228	0.0044	216	c.103 others(235): Show c.103-24910_103-24909insCCCCTCCCCTCTCCTCCTCTCCCCTC CTCCCCTCCCTCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCT CCCTCCCCTCTCCCCTCCCCTCCCTCTCCTCTCTACCTCTCCTCCTCTAC CCTCTCCTTCCCTCCCCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTC TCCCCCTCCTCCCCTCTCCTCCCCCTCCCCTCCCCTCCCC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(209): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATAT CTATCTCATATATATGTCCCATATATCTATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTC CCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18968.hp1 NA19087.hp1 HG00673.hp2 NA18968.hp1 NA19087.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0005c0004t0004 a0002c0002t0001 a0005c0004t0004	a0002c0002t0001g0019 a0002c0002t0001g0064 a0005c0004t0004g0017 a0002c0002t0001g0019 a0002c0002t0001g0064 a0005c0004t0004g0017	3	350	0.0086	216	c.-46 others(227): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATATCTATCTCATATATATGTCCCATATATCTATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTCATATATATGTCCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(209): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATCT ATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTC CCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00741.hp2 others(12): Show HG00140.hp1 HG00642.hp1 HG00741.hp2 HG01169.hp2 HG01346.hp1 HG02027.hp2 HG02129.hp1 HG03239.hp1 HG03239.hp2 HG03834.hp1 NA18940.hp2 NA18965.hp1 NA18966.hp2 NA18993.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0020 a0002c0002t0001 a0001c0001t0004 a0001c0001t0020 a0002c0002t0001	a0001c0001t0004g0076 a0001c0001t0020g0078 a0002c0002t0001g0001 others(9): Show a0001c0001t0004g0076 a0001c0001t0020g0078 a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0055 a0002c0002t0001g0065 a0002c0002t0001g0074 a0002c0002t0001g0081 a0002c0002t0001g0090 a0002c0002t0001g0096 a0002c0002t0001g0160	15	350	0.0429	216	c.-46 others(227): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATCTATCTCATATATATGTCCCATATATACATATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTCATATATATGTCCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(209): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATCTATCTCATATATATGTCCCATATATACAT ATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTC CCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	216	c.-46 others(227): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATCTATCTCATATATAT GTCCCATATATACATATCTCATATATATGTCCCATATATACATATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTCATATATATGTCCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370881	T T	TATCATAT others(209): Show TATCATATATCACATATATGATATATATATCATATATCACATATATGATA TATATATCATATATCACATATATGATATATATATCATATATATCATATGA TATATATCATATATATCACATATATGATATATATCATATGTGATATATAT CATATATATCACATATATGATATATATGTGATATATATCATATATATCAC ATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	350	0.0029	216	c.-35 others(227): Show c.-3591_-3590insATCATATATCACATATATGATATATATATCATAT ATCACATATATGATATATATATCATATATCACATATATGATATATATATC ATATATATCATATGATATATATCATATATATCACATATATGATATATATC ATATGTGATATATATCATATATATCACATATATGATATATATGTGATATA TATCATATATATCACATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3487		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370987	C C	CACATATG others(209): Show CACATATGCTATATAGCATACGTGATATATATCATATATATCATATATGA TGTATAGCATGATATATATGCTATATATCACATGTGATATATAGCATATA TATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATG TGATATATATGATATATATGTGATATATATCATATGTGATATATGTGATA TATATCACATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	350	0.0029	216	c.-34 others(227): Show c.-3485_-3484insACATATGCTATATAGCATACGTGATATATATCAT ATATATCATATATGATGTATAGCATGATATATATGCTATATATCACATGT GATATATAGCATATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATGTGATATATATGATATATATGTGATATATATCATAT GTGATATATGTGATATATATCACATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3381		chr10	TogoVar
ZNF444_chr19_56136287_56165893	56154705	A A	ACCTATGT others(209): Show ACCTATGTGCTGGGGCAGGTGGAGCTTAGCCCAGATACACGAGGATGCTT CATCCTTAGGGGATCCTCAGCAGAACATCAGCAGCTTGATCCCACAGTGG GTGGACAGGCCTATGCACTGGGGCAGGTGGAGCTTAGCCCAGATACACGA GGATGCTTCATCCTTAGGGGATCCTCAGCAGAACAGCAGCAGCTTGATCC CACAGTGGGTGGACAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	416	0.0024	216	c.298 others(233): Show c.298-3633_298-3632insTCATCCTTAGGGGATCCTCAGCAGAACA GCAGCAGCTTGATCCCACAGTGGGTGGACAGGCCTATGTGCTGGGGCAGG TGGAGCTTAGCCCAGATACACGAGGATGCTTCATCCTTAGGGGATCCTCA GCAGAACATCAGCAGCTTGATCCCACAGTGGGTGGACAGGCCTATGCACT GGGGCAGGTGGAGCTTAGCCCAGATACACGAGGATGCT	ZNF444	ENSG00000167685.15	transcript	ENST00000337080.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(209): Show CATATATACATATATACACATATACATACATATATACATATATATACATA TACATACATATATATACATATATATACATATACATACATATATATACATA TATATACATATACATACATATATATACATATATATACATATACATACATA TATATACATATATACATATACATACATATATATACATATATATACATATA CATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	460	0.0022	216	c.-13 others(227): Show c.-1395_-1394insATATATACATATATACACATATACATACATATAT ACATATATATACATATACATACATATATATACATATATATACATATACAT ACATATATATACATATATATACATATACATACATATATATACATATATAT ACATATACATACATATATATACATATATACATATACATACATATATATAC ATATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(209): Show CATATATATACATATATATACACATACATACATATATATACATATATATA CACATACATATATATACATATATATACACATACATACATATATATACATA TATATACACATACATACATATATATACATATATACACATACATACATATA TATACATATATATACATATACATACATATATATACATATATATACATATA CATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19065.hp1 NA19086.hp1 NA19060.hp1 NA19065.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	3	460	0.0065	216	c.-13 others(227): Show c.-1395_-1394insATATATATACATATATATACACATACATACATAT ATATACATATATATACACATACATATATATACATATATATACACATACAT ACATATATATACATATATATACACATACATACATATATATACATATATAC ACATACATACATATATATACATATATATACATATACATACATATATATAC ATATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(209): Show CATATATATACATATATATACACATACATACATATATATACATATATATA CACATACATATATATACATATATATACACATACATACATATATATACATA TATATACACATACATACATATATATACATATATACATATACATACATATA TATACATATATATACATATACATACATATATATACATATATATACATATA CATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(56): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01516.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02083.hp2 HG02165.hp1 HG02602.hp1 HG03654.hp2 HG03688.hp2 HG04199.hp1 NA18939.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18956.hp2 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0002 a0002c0014 a0003c0003 others(2): Show a0002c0002 a0002c0014 a0003c0003 a0003c0012 a0012c0019	a0002c0002t0002 a0002c0002t0013 a0002c0002t0015 others(6): Show a0002c0002t0002 a0002c0002t0013 a0002c0002t0015 a0002c0002t0021 a0002c0002t0041 a0002c0014t0002 a0003c0003t0006 a0003c0012t0023 a0012c0019t0002	a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0014 others(17): Show a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0069 a0002c0002t0002g0073 a0002c0002t0002g0078 a0002c0002t0002g0132 a0002c0002t0013g0001 a0002c0002t0013g0011 a0002c0002t0015g0001 a0002c0002t0015g0133 a0002c0002t0021g0001 a0002c0002t0041g0001 a0002c0014t0002g0001 a0002c0014t0002g0011 a0003c0003t0006g0025 a0003c0012t0023g0071 a0003c0012t0023g0072 a0012c0019t0002g0017	59	460	0.1283	216	c.-13 others(227): Show c.-1395_-1394insATATATATACATATATATACACATACATACATAT ATATACATATATATACACATACATATATATACATATATATACACATACAT ACATATATATACATATATATACACATACATACATATATATACATATATAC ATATACATACATATATATACATATATATACATATACATACATATATATAC ATATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF611_chr19_52697813_52740044	52732292	A A	ATAACTCA others(209): Show ATAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGTTATT CTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGT TATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATT GAGTTATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAG TATTGAGTTATTCTGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 NA18946.hp2 others(4): Show HG01261.hp1 HG01358.hp1 NA18946.hp2 NA18962.hp1 NA18990.hp1 NA19077.hp1 NA19083.hp1	a0002 a0017 a0002 a0017	a0002c0002 a0017c0015 a0002c0002 a0017c0015	a0002c0002t0002 a0017c0015t0002 a0002c0002t0002 a0017c0015t0002	a0002c0002t0002g0135 a0002c0002t0002g0260 a0002c0002t0002g0288 others(4): Show a0002c0002t0002g0135 a0002c0002t0002g0260 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0017c0015t0002g0287	7	408	0.0172	216	c.-22 others(235): Show c.-221-2288_-221-2287insCTCAGAATAACTCAATACTGTGAGTT ACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATACTGTG AGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATAC TGTGAGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCA ATACTGTGAGTTACTCAGAATAACTCAATACTGTGAGTTA	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5			chr19	TogoVar
ZNF611_chr19_52697813_52740044	52732319	A A	ATAACTCA others(209): Show ATAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGTTATT CTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGT TATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATT GAGTTATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAG TATTGAGTTATTCTGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp1 others(104): Show HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0012c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0041 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0016 a0002c0002t0032 a0002c0002t0033 a0002c0002t0040 a0002c0004t0011 a0012c0017t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 others(101): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0003g0349 a0001c0001t0003g0361 a0001c0001t0009g0380 a0001c0001t0013g0265 a0001c0001t0013g0266 a0001c0001t0013g0273 a0001c0001t0013g0340 a0001c0001t0013g0363 a0001c0001t0014g0332 a0001c0001t0018g0360 a0001c0001t0022g0303 a0001c0001t0024g0296 a0001c0001t0025g0385 a0001c0001t0025g0386 a0001c0001t0041g0358 a0002c0002t0002g0013 a0002c0002t0002g0137 a0002c0002t0002g0263 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0292 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0341 a0002c0002t0002g0347 a0002c0002t0002g0348 a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0357 a0002c0002t0002g0366 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0002g0371 a0002c0002t0002g0373 a0002c0002t0002g0383 a0002c0002t0006g0011 a0002c0002t0006g0012 a0002c0002t0006g0293 a0002c0002t0006g0294 a0002c0002t0006g0295 a0002c0002t0006g0297 a0002c0002t0006g0298 a0002c0002t0006g0355 a0002c0002t0006g0356 a0002c0002t0006g0364 a0002c0002t0006g0365 a0002c0002t0006g0370 a0002c0002t0007g0302 a0002c0002t0007g0315 a0002c0002t0007g0337 a0002c0002t0007g0342 a0002c0002t0007g0343 a0002c0002t0007g0344 a0002c0002t0007g0345 a0002c0002t0007g0346 a0002c0002t0007g0350 a0002c0002t0007g0351 a0002c0002t0007g0362 a0002c0002t0007g0381 a0002c0002t0016g0372 a0002c0002t0032g0359 a0002c0002t0033g0354 a0002c0002t0040g0369 a0002c0004t0011g0312 a0012c0017t0002g0382	107	408	0.2623	216	c.-22 others(235): Show c.-221-2315_-221-2314insCTCAGAATAACTCAATACTGTGAGTT ACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATACTGTG AGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATAC TGTGAGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCA ATACTGTGAGTTACTCAGAATAACTCAATACTGTGAGTTA	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5			chr19	TogoVar
ZNF732_chr4_265675_310474	299366	T T	TATGTGTA others(209): Show TATGTGTATATATATACACATATATACACATATGTGTATATATATACACA TATATACACATATGTGTATATATATACACATATATACACATATGTGTATA TATATATACACATATATACACATATGTGTATATATATATACACATATATA CACATATGTGTATATATATATACACATATATACACATATGTGTATATATA TATACACATATATACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA21309.hp1 HG02818.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0059 a0002c0002t0001g0060	2	326	0.0061	216	c.4-3 others(229): Show c.4-3212_4-3211insGTGTATATATGTGTATATATATATACACATAT GTGTATATATGTGTATATATATATACACATATGTGTATATATGTGTATAT ATATATACACATATGTGTATATATGTGTATATATATATACACATATGTGT ATATATGTGTATATATATACACATATGTGTATATATGTGTATATATATAC ACATATGTGTATATATGTGTATATATATACACAT	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237966	G G	GACACACG others(209): Show GACACACGGACACACACACACGGACACACACATGAACACATGGACACACA CATAAACACATGGACACACACGAACACACACCTACACACACGTGGACACA CACGGACACATGGACACACACGAACACATGGACACACACACGGGGACACA CACGGACACACACAGAGACACACACGGACACATGGAAACACACGAACACA CACCCACACCCACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	362	0.0028	216	c.-12 others(237): Show c.-127-12794_-127-12793insGTGTGTGGGTGTGGGTGTGTGTTC GTGTGTTTCCATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGTGTGTGTCC CCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGTGTGTGTCC ACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTATGTGTGTGT CCATGTGTTCATGTGTGTGTCCGTGTGTGTGTGTCCGTGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237966	G G	GACACACG others(209): Show GACACACGGACACACACACACGGACACATGGACACACACATGAACACACA CATAAACACATGGACACACACGAACACACACCTACACACACGTGGACACA CACGGACACATGGACACACACGAACACATGGACACACACACGGGGACACA CACGGACACACACAGAGACACACACGGACACATGGAAACACACGAACACA CACCCACACCCACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG02615.hp2 others(2): Show HG01243.hp2 HG02280.hp1 HG02615.hp2 HG02895.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0316 a0002c0002t0001g0144 a0002c0002t0001g0245 others(2): Show a0001c0001t0001g0316 a0002c0002t0001g0144 a0002c0002t0001g0245 a0002c0002t0001g0343 a0002c0002t0002g0036	5	362	0.0138	216	c.-12 others(237): Show c.-127-12794_-127-12793insGTGTGTGGGTGTGGGTGTGTGTTC GTGTGTTTCCATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGTGTGTGTCC CCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGTGTGTGTCC ACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTATGTGTGTGT TCATGTGTGTGTCCATGTGTCCGTGTGTGTGTGTCCGTGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237982	C C	CACACGGA others(209): Show CACACGGACACATGGACACACACATGAACACATGGACACACACATAAACA CATGGACACACACGAACACACACCTACACACACGTGGACACACACGGACA CATGGACACACACGAACACATGGACACACACACGGGGACACACACGGACA CACACAGAGACACACACGGACACATAGAAACACACGAACACACACCCACA CCCACACACACACACGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00621.hp2 others(44): Show HG00099.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01981.hp1 HG02040.hp1 HG02132.hp1 HG02148.hp2 HG02602.hp2 HG02717.hp1 HG04199.hp1 HG04228.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA18999.hp1 NA19007.hp1 NA19007.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19082.hp1 NA19085.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0066 others(44): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0266 a0001c0001t0001g0286 a0001c0001t0001g0302 a0001c0001t0001g0322 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0104 a0002c0002t0001g0114 a0002c0002t0001g0178 a0002c0002t0001g0187 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0219 a0002c0002t0001g0222 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0279 a0002c0002t0001g0292 a0002c0002t0001g0295 a0002c0002t0001g0319 a0002c0002t0001g0348 a0002c0002t0001g0351 a0002c0002t0002g0012 a0002c0002t0005g0006	47	362	0.1298	216	c.-12 others(237): Show c.-127-12810_-127-12809insCCGTGTGTGTGTGTGGGTGTGGGT GTGTGTTCGTGTGTTTCTATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGT GTGTGTCCCCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGT GTGTGTCCACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTAT GTGTGTGTCCATGTGTTCATGTGTGTGTCCATGTGTCCGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237982	C C	CACACGGA others(209): Show CACACGGACACATGGACACACACATGAACACATGGACACACACATAAACA CATGGACACACACGAACACACACCTACACACACGTGGACACACACGGACA CATGGACACACACGAACACATGGACACACACACGGGGACACACACGGACA CACACAGAGACACACACGGACACATGGAAACACACGAACACACACCCACA CCCACACACACACACGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02451.hp1 others(6): Show HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG03041.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0240 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0282 a0001c0001t0001g0320 a0001c0003t0001g0191 a0001c0003t0001g0329 a0001c0007t0001g0094	9	362	0.0249	216	c.-12 others(237): Show c.-127-12810_-127-12809insCCGTGTGTGTGTGTGGGTGTGGGT GTGTGTTCGTGTGTTTCCATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGT GTGTGTCCCCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGT GTGTGTCCACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTAT GTGTGTGTCCATGTGTTCATGTGTGTGTCCATGTGTCCGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237982	C C	CACACGGA others(209): Show CACACGGACACATGGACACACACATGAACACATGGACACACACATAAACA CATGGACACACACGAACACACACCTACACACACGTGGACACACACGGACA CATGGACACACACGAACACATGGACACACACACGGGGACACACATGGACA CACACAGAGACACACACGGACACATGGAAACACACGAACACACACCCACA CCCACACACACACACGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	362	0.0028	216	c.-12 others(237): Show c.-127-12810_-127-12809insCCGTGTGTGTGTGTGGGTGTGGGT GTGTGTTCGTGTGTTTCCATGTGTCCGTGTGTGTCTCTGTGTGTGTCCAT GTGTGTCCCCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGT GTGTGTCCACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTAT GTGTGTGTCCATGTGTTCATGTGTGTGTCCATGTGTCCGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ABCA13_chr7_48166458_48652497	48443861	T T	TCCTCTTT others(210): Show TCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTA CAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTT TCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGG AAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCC TGTTACAGGAGGAAACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01516.hp2 HG01952.hp1 others(4): Show HG00408.hp1 HG01516.hp2 HG01952.hp1 HG02622.hp1 HG02922.hp2 NA18971.hp1 NA19030.hp2	a0002 a0008 a0031 others(3): Show a0002 a0008 a0031 a0037 a0050 a0061	a0002c0002 a0008c0013 a0008c0032 others(4): Show a0002c0002 a0008c0013 a0008c0032 a0031c0061 a0037c0042 a0050c0080 a0061c0098	a0002c0002t0004 a0008c0013t0001 a0008c0032t0001 others(4): Show a0002c0002t0004 a0008c0013t0001 a0008c0032t0001 a0031c0061t0004 a0037c0042t0004 a0050c0080t0013 a0061c0098t0001	a0002c0002t0004g0106 a0008c0013t0001g0111 a0008c0032t0001g0079 others(4): Show a0002c0002t0004g0106 a0008c0013t0001g0111 a0008c0032t0001g0079 a0031c0061t0004g0013 a0037c0042t0004g0073 a0050c0080t0013g0158 a0061c0098t0001g0069	7	178	0.0393	217	c.125 others(240): Show c.12566-11022_12566-11021insCCCTCTTTCCTTCCTGTTACAG GAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCC TTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAA CACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGT TACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	42/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA8_chr17_68862289_68960392	68958576	T T	TAATATAA others(210): Show TAATATAATTATATATAATATATAATATATAATATAATTATATATAATAT ATAATATATAATATAATTATATATAATATATAATATATAATATAATTATA TATAATATATAATATATAATATAATTATATATAATATATAATATATAATA TAATTATATATAATATATAATATATAATATAATTATATATAATATATAAT ATATAATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0106 a0005c0009t0001g0106	1	274	0.0037	217	c.-35 others(228): Show c.-3525_-3524insTTTATATATATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TTATATATAATTATATTATATATTATATATTATATATAATTATATTATAT ATTATATATTATATATAATTATATTATATATTATATATTATATATAATTA TATTATATATTATATATTATATATAATTATATT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3185		chr17	TogoVar
ACSM2B_chr16_20531226_20581367	20566700	A A	ATATATAG others(210): Show ATATATAGTATATACTATATATACTATATGTAGTATATATACTATATATA GTATATATAGTATATATACTATATATACTATATATAGTATATACTATATA TAGTATATATAGTATATATACTATATATAGTATATATAGTATATATACTA TATATACTATATATAGTATATACTATATATAGTATATATAGTATATATAC TATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0026 a0005c0011t0026	a0005c0011t0026g0327 a0005c0011t0026g0327	1	388	0.0026	217	c.-8- others(232): Show c.-8-1848_-8-1847insCTATATATAGTATATATAGTATATATACTA TATATACTATATATAGTATATACTATATATAGTATATATAGTATATATAC TATATATACTATATATAGTATATATACTATATATACTATATATAGTATAT ACTATATATAGTATATATAGTATATATACTATATATACTATATATAGTAT ATATACTACATATAGTATATATAGTATATACTATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169771124	T T	TTTATATT others(210): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	418	0.0024	217	c.-16 others(228): Show c.-1605_-1604insTTTTTTATATATTTATGATATATAAATATAAATT TTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGATATA TAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATAT ATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATAT AAATTTTTATATATTTATGATATATAAATATAA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1564		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771186	A A	TTTATATT others(210): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03942.hp1 HG02615.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	2	418	0.0048	217	c.-16 others(228): Show c.-1666_-1665insTTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAAATTTTTATATATTTATGATATAT AAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1625		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100162448	T T	TTATATAT others(210): Show TTATATATATGCACATATACACATTATATGTGTATATATATGCACATATA CACATTATATGTGTATATATATGCACATATACACATTATATGTGTATATA TATGCACATATACACATTATATGTGTATATATATGCACATATACACATTA TATGTGTATATATATGCACATATACACATTATATGTGTATATATATGCAC ATATACACATTATATGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0201 a0006c0016t0012g0201	1	228	0.0044	217	c.118 others(236): Show c.1182-7345_1182-7129dupCACATATAATGTGTATATGTGCATAT ATATACACATATAATGTGTATATGTGCATATATATACACATATAATGTGT ATATGTGCATATATATACACATATAATGTGTATATGTGCATATATATACA CATATAATGTGTATATGTGCATATATATACACATATAATGTGTATATGTG CATATATATACACATATAATGTGTATATGTGCATATATATA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADGRB1_chr8_142444649_142550007	142500274	C C	CTCCTCCC others(210): Show CTCCTCCCCCGCCCCCCCACGCCGCTCCTCCCCCGCCCCCCGCGCCGCTC CTCCCCCCGCCCCCCCCGCGCCGCTCCTCCCCTGCCCCCCACGCCTTTCC TCCCCCCGCCCCCCGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCC CCCGCCCCCCACGCCCGCTCCTCCCCCGCCCCGCCCCCGCGCCGCTCCTC CCCTGCCCCCCACGCCTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0002 a0013c0037t0002	a0013c0037t0002g0271 a0013c0037t0002g0271	1	310	0.0032	217	c.267 others(236): Show c.2675+9465_2675+9466insCCCGCCCCCCCACGCCGCTCCTCCCC CGCCCCCCGCGCCGCTCCTCCCCCCGCCCCCCCCGCGCCGCTCCTCCCCT GCCCCCCACGCCTTTCCTCCCCCCGCCCCCCGCGCCGCTCCTCCACCTCC CCACGCGCCGCTCCTCCCCCGCCCCCCACGCCCGCTCCTCCCCCGCCCCG CCCCCGCGCCGCTCCTCCCCTGCCCCCCACGCCTTTCCTCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(210): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19060.hp2 NA18994.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0243 a0001c0002t0003g0234 a0001c0002t0003g0243	2	292	0.0069	217	c.364 others(236): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK5_chr1_77277019_77564966	77367853	T T	TTATATGT others(210): Show TTATATGTTATGTATATTATATATAATATATGTTATATATATTATATATT ATATGTTATATATATTATATATAATATGTTATATATATTATATATAACAT GTTATATATAATATATATGTTATATATAATATATGTTATATATATTATAT ATAATATATGTTATATATAATATATATAACATATGTTATATATAATATAT AACATATGTTATATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02451.hp1 HG02622.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0002 a0003c0005t0009 a0002c0002t0002 a0003c0005t0009	a0002c0002t0002g0129 a0003c0005t0009g0005 a0002c0002t0002g0129 a0003c0005t0009g0005	2	284	0.0070	217	c.891 others(236): Show c.891+27285_891+27286insTATATGTTATGTATATTATATATAAT ATATGTTATATATATTATATATTATATGTTATATATATTATATATAATAT GTTATATATATTATATATAACATGTTATATATAATATATATGTTATATAT AATATATGTTATATATATTATATATAATATATGTTATATATAATATATAT AACATATGTTATATATAATATATAACATATGTTATATATAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AKAP17A_chrX_1586604_1607520	1596695	C C	CTGTGCCC others(210): Show CTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCC TGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCT CCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCC ATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCT CCATCCCTCCTGCCGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0065 a0001c0004t0012g0065	1	151	0.0066	217	c.911 others(234): Show c.911+1163_911+1164insTGTGCCCTCCTAGTGAGGCGGATTCGTC CTCTTCCTCCTCCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCC TCCTCCTCCTTCTCCGTCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCC TCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGCCCTCCTAGTGAGG CGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGTGT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4			chrX	TogoVar
ANKRD33B_chr5_10559070_10662816	10638986	C C	CGGAGTTG others(210): Show CGGAGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTT GCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGC GATGTTAGGCGGTGACGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0040 a0001c0004t0040	a0001c0004t0040g0267 a0001c0004t0040g0267	1	324	0.0031	217	c.637 others(233): Show c.637+840_637+1056dupGCGGTGACGCGGAGTTGCGCGGCGATGTT AGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTG CGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGT GACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCG ATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAG	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANO7_chr2_241183677_241230976	241187727	C C	CAGGAGGA others(210): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGA GGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGG GGGAGGGGGAGAAACGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0102 a0001c0003t0011g0102	1	396	0.0025	217	c.-10 others(228): Show c.-1047_-1046insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAG AGGGAGAAGTGGGGGGGGAGGGGGAGAAACGAT	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding		949		chr2	TogoVar
ANO7_chr2_241183677_241230976	241218055	C C	CGCGCAGG others(210): Show CGCGCAGGGGCGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGCCG GGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGTA GGGACGGGGCGGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGG CAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCGCGCAGGGGCGGGGCGGGG GGCAGCGGGGGCGCGCAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0261 a0006c0006t0001g0261	1	396	0.0025	217	c.217 others(234): Show c.2178+165_2178+166insCGCAGGGGCGGGGCGGGGGGGGCAGCGG GGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCG GGGGGCAGCGGGGGCGCGTAGGGACGGGGCGGGGGGGGGCAGCGGGGGCG CGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGG CGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARFGAP1_chr20_63267813_63294790	63294097	C C	CTCGCCAA others(210): Show CTCGCCAAACTGAGTCACAGGAGGCACGAGTGGGCAGCCGGGAGTGCGGG GGGAGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGAGGGGGAGTGCGGG GGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGGAGTGTGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	342	0.0029	217	c.62 others(228): Show c.6224_*6225insTCGCCAAACTGAGTCACAGGAGGCACGAGTGGGC AGCCGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGG GAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGA GGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAA GGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGG	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4308		chr20	TogoVar
ARFIP1_chr4_152774954_152917357	152804093	A A	ATATATAT others(210): Show ATATATATTATATATAATATAACATGTATTATATATAATATAACATGTAT TATATATTATATATAATATAACATGTATTATATATTATATATAATATAAC ATGTATTATATATTATATATAATATAACATGTATTATATATTATATATAA CATAACATGTATTATATATTATATATAATATAAGATGTATTATATATTAT ATATAATATAACATGTAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	342	0.0029	217	c.-10 others(236): Show c.-10+23902_-10+23903insAATATAACATGTATTATATATTATAT ATAATATAACATGTATTATATATTATATATAATATAACATGTATTATATA TTATATATAATATAACATGTATTATATATTATATATAACATAACATGTAT TATATATTATATATAATATAAGATGTATTATATATTATATATAATATAAC ATGTATTATATATTATATATAATATAACATGTATTATATAT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP39_chr8_144524179_144690846	144602715	C C	CGCTCGTG others(210): Show CGCTCGTGTACCTGTGTGTGTGCATGGAGGCGTGTGTGTGAGCTCGTGTA CCTGTGTGCATGTGCATGGAGGCGTGTGTGTGCATGTGCATGGAGGCGTG TGTGCTCGTGTACCTGTGTGCATGGAGGCGTGCGTGTGAGCTCGTGTACC TGTGTGCATGTGCGTGGTGTGTGTGAGAGCTCATGTACCTGTGTGTGTGT GCGTGGAGGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02622.hp2 others(7): Show HG02109.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(7): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0018t0001g0230	10	246	0.0407	217	c.80+ others(232): Show c.80+2819_80+2820insACACACACGCCTCCACGCACACACACACAG GTACATGAGCTCTCACACACACCACGCACATGCACACAGGTACACGAGCT CACACGCACGCCTCCATGCACACAGGTACACGAGCACACACGCCTCCATG CACATGCACACACACGCCTCCATGCACATGCACACAGGTACACGAGCTCA CACACACGCCTCCATGCACACACACAGGTACACGAGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11			chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(210): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCC CTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	264	0.0038	217	c.102 others(234): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(210): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCCT CCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	264	0.0038	217	c.102 others(234): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCACTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(210): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGG AGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGG ACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTG AGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	216	0.0046	217	c.311 others(234): Show c.311-1311_311-1310insCTCCCCCTCCCCTCCCCTCACCCTCCCC TCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCCCTCCCCG TCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCAT CCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCGTCCCCCCTCCCGT CTGCCCTCCCCCATCTCCTTCCCCCTCCCCTCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198308	A A	AGGGGAGG others(210): Show AGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGA GGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGGGGAGG GGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGG GGAGGGGAGATGGGAGGGGAGGGGAGGGTGAGGGGAGGGGAGGGGGAGGG GAGGAGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	216	0.0046	217	c.311 others(234): Show c.311-1320_311-1319insCTCCCCTCCCCTCTCCTCCCCTCCCCCT CCCCTCCCCTCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCGTC CCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTCCCCCTC CCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCGTCCC CCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASMT_chrX_1610059_1648081	1624775	G G	GGGCTGAC others(210): Show GGGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGAT GCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGC ACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCGAGGCAGATGCTGGGA GGTGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGG CAGATGCTGGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	223	0.0045	217	c.374 others(232): Show c.374+445_374+446insCCCCAGGCAGATGCTGGGAGGTGGTGGCTG CACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCGAGGCAGATGCTGGG AGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAG GCAGATGCTGGGAGGTGGTGGCTGACCCCAGGCAGATGCTGGGAGGTGGG GGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
B4GALNT4_chr11_364499_387117	374689	A A	AGGGAGGA others(210): Show AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGG AGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0055 a0008c0015t0001g0055	1	184	0.0054	217	c.784 others(232): Show c.784-766_784-765insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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