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(197): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	208	0.0048	204	c.200 others(221): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(197): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0251 a0008c0017t0001g0251	1	208	0.0048	204	c.200 others(221): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(197): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	208	0.0048	204	c.200 others(221): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(197): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	208	0.0048	204	c.200 others(221): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(197): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02027.hp2 HG03017.hp1 HG01952.hp2 HG02027.hp2 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0170 a0002c0002t0001g0190 a0002c0002t0009g0176 a0002c0002t0001g0170 a0002c0002t0001g0190 a0002c0002t0009g0176	3	210	0.0143	204	c.200 others(221): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(197): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19064.hp2 HG02074.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0219 a0002c0002t0001g0169 a0002c0002t0001g0219	2	209	0.0096	204	c.200 others(221): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCCTC others(197): Show CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	156	0.0064	204	c.200 others(221): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(197): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAGAGTACTCTTTTGAATACTCTTCAAAAGA GTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	9	0.1111	204	c.917 others(223): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAGAGTACTCTTTTGAATAC TCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR7_chr18_56646359_57034792	57024554	A A	AACTATGG others(197): Show AACTATGGTAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAGGATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTA TGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGAT ATGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0138 a0001c0003t0015g0138	1	100	0.0100	204	c.427 others(223): Show c.4270-2450_4270-2449insACTATGGTAGTTATGTCCCTTACAGG ATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGAT AGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATA GGGATATGTGACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCC TATTCTCAGACAGGAATAGGGATATGTG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27			chr18	TogoVar
WDR7_chr18_56646359_57034792	57024623	A A	ACTATGAT others(197): Show ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATACGTGACTATGATAGTTATGTCCCTTACAGGATTTCA CATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTA TGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGAT ACGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0004 a0001c0005t0024g0004	1	119	0.0084	204	c.427 others(223): Show c.4270-2381_4270-2380insCTATGATAGTTATGTCCCTTACAGGA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATACGTGACTATGATA GTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAG GGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCC TATTCTCAGACAGGAATAGGGATACGTG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27			chr18	TogoVar
WDR7_chr18_56646359_57034792	57024865	T T	TATCCCTA others(197): Show TATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGT CCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATG TGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTT CACAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp1 HG03195.hp1 HG01243.hp1 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0003t0002 a0001c0003t0015 a0001c0001t0015 a0001c0003t0002 a0001c0003t0015	a0001c0001t0015g0111 a0001c0003t0002g0089 a0001c0003t0015g0138 a0001c0001t0015g0111 a0001c0003t0002g0089 a0001c0003t0015g0138	3	134	0.0224	204	c.427 others(223): Show c.4270-2125_4270-2124insACAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGAAT AGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCC CTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTT ATAGAATTTCACAAATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(197): Show ATATATAATATATATATATAATATATATATATATAATATATATATATATT ATATATATATATAATATATATATATATTATATATATATATAATATATATA TTATATATATATTATATATATATAATATATATAATATATATATATTATAT ATATATAATATATATATTATATATATATAATATATATATATATTATATAT ATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	147	0.0068	204	c.38 others(215): Show c.3884_*3885insATAATATATATAATATATATATATATTATATATA TATAATATATATATTATATATATATAATATATATATATTATATATATTAT ATATATATAATATATATATAATATATATATTATATATATATATAATATAT ATATATATTATATATATATATAATATATATATATATTATATATATATATA TTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
XG_chrX_2747040_2821500	2773553	A A	AGGAAGGA others(197): Show AGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0207 a0001c0001t0011g0207	1	279	0.0036	204	c.104 others(221): Show c.104-1148_104-1147insGGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGGGAAGGAAGGAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773617	A A	AGGAAGAA others(197): Show AGGAAGAAAGGAGGGTGGGGAGGAAGGAAAGAAGAAGGGGGAAAAGGAGA GAGGGAAGGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	299	0.0033	204	c.104 others(221): Show c.104-1094_104-1093insAAAGGAGGGTGGGGAGGAAGGAAAGAAG AAGGGGGAAAAGGAGAGAGGGAAGGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XKR9_chr8_70664339_70740942	70711585	T T	TAAACACA others(197): Show TAAACACAAAGAGGGGAACAATAGACATCAGGGCTTACTTGAGGATGCAG GGTGGGAAGAGGGTGAGGATCAAAAAACTATGTATTGGGTACTAGGCTCA CTACCTGGGTGAGGAAATTATTTGTATACCTAACCCCAGTGATACACAAT TTACCCATGTAAAAAACCTGCACACGTACCCCTTGAAACTTAAAAGTTGG AAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02717.hp2 others(5): Show HG01167.hp1 HG02055.hp1 HG02717.hp2 HG02895.hp1 HG02976.hp1 HG03225.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0015 a0001c0001t0004g0081 a0001c0001t0004g0095 others(4): Show a0001c0001t0004g0015 a0001c0001t0004g0081 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0013g0087 a0001c0001t0013g0094	8	229	0.0349	204	c.493 others(221): Show c.493+4640_493+4843dupCACAAAGAGGGGAACAATAGACATCAGG GCTTACTTGAGGATGCAGGGTGGGAAGAGGGTGAGGATCAAAAAACTATG TATTGGGTACTAGGCTCACTACCTGGGTGAGGAAATTATTTGTATACCTA ACCCCAGTGATACACAATTTACCCATGTAAAAAACCTGCACACGTACCCC TTGAAACTTAAAAGTTGGAAGAAAAA	XKR9	ENSG00000221947.8	transcript	ENST00000408926.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
XKR9_chr8_70664339_70740942	70711605	A A	ATAGACAT others(197): Show ATAGACATCAGGGCTTACTTGAGGATGCAGGGTGGGAAGAGGGTGAGGAT CAAAAAACTATGTATTGGGTACTAGGCTCACTACCTGGGTGAGGAAATTA TTTGTATACCTAACCCCAGTGATACACAATTTACCCATGTAAAAAACCTG CACACGTACCCCTTGAAACTTAAAAGTTGGAAGAAAAACACAAAGAGGGG AACAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0031 a0001c0001t0017g0031	1	320	0.0031	204	c.493 others(221): Show c.493+4655_493+4656insGTAGACATCAGGGCTTACTTGAGGATGC AGGGTGGGAAGAGGGTGAGGATCAAAAAACTATGTATTGGGTACTAGGCT CACTACCTGGGTGAGGAAATTATTTGTATACCTAACCCCAGTGATACACA ATTTACCCATGTAAAAAACCTGCACACGTACCCCTTGAAACTTAAAAGTT GGAAGAAAAACACAAAGAGGGGAACA	XKR9	ENSG00000221947.8	transcript	ENST00000408926.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
XKR9_chr8_70664339_70740942	70711732	A A	AATTTACC others(197): Show AATTTACCCATGTAAAAAACCTGCACACGTACCCCTTGAAACTTAAAAGT TGGAAGAAAAACACAAAGAGGGGAACAATAGACATCAGGGCTTACTTGAG GATGCAGGGTGGGAAGAGGGTGAGGATCAAAAAACTATGTATTGGGTACT AGGCTCACTACCTGGGTGAGGAAATTATTTGTATACCTAACCCCAGTGAT ACACC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0079 a0005c0009t0004g0079	1	320	0.0031	204	c.493 others(221): Show c.493+4782_493+4783insCATTTACCCATGTAAAAAACCTGCACAC GTACCCCTTGAAACTTAAAAGTTGGAAGAAAAACACAAAGAGGGGAACAA TAGACATCAGGGCTTACTTGAGGATGCAGGGTGGGAAGAGGGTGAGGATC AAAAAACTATGTATTGGGTACTAGGCTCACTACCTGGGTGAGGAAATTAT TTGTATACCTAACCCCAGTGATACAC	XKR9	ENSG00000221947.8	transcript	ENST00000408926.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZDHHC20_chr13_21367571_21464303	21377196	G G	GGCCCGAC others(197): Show GGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGAC GTGACCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGACGTGACCTCCA CCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGT GCCTGTGATCTGACTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATC TGACT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG03209.hp2 others(1): Show HG01074.hp1 HG01109.hp1 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0012g0188 others(1): Show a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0012g0188 a0001c0001t0012g0189	4	300	0.0133	204	c.41 others(219): Show c.41-542_*41-541insAGTCAGATCGCAGGCACTAGGGGTGGAGGT CACGTCGGGCAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGGC AGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGTCAGAT CACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCA CTAGGGGTGGAGGTCACGTCGGGC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(197): Show AATATATAAATATATATAAAAATATATATAAATATATAAATATATATAAA AATATATATAAATATATAAATATATATAAATATATATAAATATATAAATA TATATATATAAATATATATAAATATATATAAATATATAAATATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATAAA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 NA20129.hp1 HG02615.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	115	0.0174	204	c.-11 others(215): Show c.-1140_-1139insATATATAAATATATATAAAAATATATATAAATAT ATAAATATATATAAAAATATATATAAATATATAAATATATATAAATATAT ATAAATATATAAATATATATATATAAATATATATAAATATATATAAATAT ATAAATATATATATATAAATATATATAAATATATAAATATATATATAAAT ATATATAAATATAAATATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(197): Show AATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA AATATATATAAATATATAAATATATATAAATATATATAAATATATAAATA TATATATATAAATATATATAAATATATATAAATATATAAATATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATAAA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	114	0.0088	204	c.-11 others(215): Show c.-1140_-1139insATATATAAATATATATATAAATATATATAAATAT ATAAATATATATAAAAATATATATAAATATATAAATATATATAAATATAT ATAAATATATAAATATATATATATAAATATATATAAATATATATAAATAT ATAAATATATATATATAAATATATATAAATATATAAATATATATATAAAT ATATATAAATATAAATATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ZNF732_chr4_265675_310474	299343	G G	GTATATAT others(197): Show GTATATATATATACACATATATACACATATGTGTATATATATATACACAT ATGTGTATATATATATACACATATGTGTATATATATACACATATATACAC ATATGTGTATATATATATACACATATATACACATATGTGTATATATATAT ACACATATATACACATATGTGTATATATATACACATATATACACATATGT GTATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0236 a0004c0004t0001g0236	1	314	0.0032	204	c.4-3 others(217): Show c.4-3189_4-3188insTATACACATATGTGTATATATGTGTATATATA TACACATATGTGTATATATGTGTATATATATATACACATATGTGTATATA TGTGTATATATATATACACATATGTGTATATATGTGTATATATATACACA TATGTGTATATATATATACACATATGTGTATATATATATACACATATGTG TATATATGTGTATATATATATA	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ZNF787_chr19_56082366_56126295	56105981	T T	TTCCCCCC others(197): Show TTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCC CACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCG CATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCG CCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCG CGCAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0024 a0001c0010t0024	a0001c0010t0024g0086 a0001c0010t0024g0086	1	386	0.0026	204	c.-10 others(221): Show c.-10-2755_-10-2754insTTGCGCGGTGACTGCCGTGGGCGCGGAG GGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG AGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGG TGACTGCCGTGGGCGCGGAGGGGGGA	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNG1A_chr9_115837_184056	129766	T T	TATTTTTT others(197): Show TATTTTTTTTGTTTTATATTGATAATTGTTGTGATGAAATTGATGGCCCC TAAGATAGAGGAGACACCTGCTAGGTGTAAGGAGAAGATGGTTAGGTCTA CGGAGGCTCCAGGGTGGGAGTAGTTCCCTGCTAAGGGAGGGTAGACTGTT CAACCTGTTCCTGCTCCGGCCTCCACTATAGCAGATGCGAGCAGGAGTAG GAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(87): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01256.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02293.hp1 HG02572.hp2 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0003c0004 a0009c0013	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0006t0001 a0003c0004t0001 a0009c0013t0001	a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0194 others(79): Show a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0003t0001g0003 a0001c0003t0001g0081 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0002c0002t0001g0008 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0232 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0334 a0002c0002t0001g0338 a0002c0002t0002g0317 a0002c0002t0003g0243 a0002c0006t0001g0346 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0075 a0003c0004t0001g0110 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0118 a0003c0004t0001g0119 a0009c0013t0001g0237	90	392	0.2296	204	c.816 others(221): Show c.816+5212_816+5213insCTCTCCTACTCCTGCTCGCATCTGCTAT AGTGGAGGCCGGAGCAGGAACAGGTTGAACAGTCTACCCTCCCTTAGCAG GGAACTACTCCCACCCTGGAGCCTCCGTAGACCTAACCATCTTCTCCTTA CACCTAGCAGGTGTCTCCTCTATCTTAGGGGCCATCAATTTCATCACAAC AATTATCAATATAAAACAAAAAAAAT	ZNG1A	ENSG00000172785.19	transcript	ENST00000356521.9	protein_coding	11/14			chr9	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(197): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATTTATATATATATATATATTTATATATATAGAAATATATAT ATATTTATATATATATAAAATATATATTTATATATATATAAAATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	59	0.0169	204	c.532 others(219): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATATAAATAGAAATATATATATATTTATATATATAGAAATA TATATATATTTATATATATAGAAATATATATATATTTATATATATAGAAA TATATATATTTATATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABR_chr17_998519_1184981	1032536	G G	GGCAGAGG others(198): Show GGCAGAGGACGCCACGGGCAACCACCCGCGTCCGTGCTGGGCGCAGAGGA CACCACGGGCAACCACCCGCGTCCGTGCTGGGCGCAGAGGACGCCACGGG CAACCACCCGCGTCCGTGCTGGGCGCAGAGGACGCCACGGGCAACCACCC GCGTCCGTGCTGGGCGCAGAGGACGCCACGGGCAACCACCCGCGTCCGTG CTGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03098.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0123 a0001c0001t0023g0034 a0001c0001t0001g0123 a0001c0001t0023g0034	2	308	0.0065	205	c.179 others(226): Show c.1791+17513_1791+17514insGCCCAGCACGGACGCGGGTGGTTG CCCGTGGCGTCCTCTGCGCCCAGCACGGACGCGGGTGGTTGCCCGTGGCG TCCTCTGCGCCCAGCACGGACGCGGGTGGTTGCCCGTGGCGTCCTCTGCG CCCAGCACGGACGCGGGTGGTTGCCCGTGGTGTCCTCTGCGCCCAGCACG GACGCGGGTGGTTGCCCGTGGCGTCCTCTGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1032536	G G	GGCAGAGG others(198): Show GGCAGAGGACGCCACGGGCAACCACCCGCGTCCGTGCTGGGCGCAGAGGA CGCCACGGGCAACCACCCGCGTCCGTGCTGGGCGCAGAGGACGCCACGGG CAACCACCCGCGTCCGTGCTGGGCGCAGAGGACGCCACGGGCAACCACCC GCGTCCGTGCTGGGCGCAGAGGACGCCACGGGCAACCACCCGCGTCCGTG CTGGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04184.hp1 HG01433.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0082 a0001c0001t0006g0141 a0001c0001t0001g0082 a0001c0001t0006g0141	2	308	0.0065	205	c.179 others(226): Show c.1791+17513_1791+17514insGCCCAGCACGGACGCGGGTGGTTG CCCGTGGCGTCCTCTGCGCCCAGCACGGACGCGGGTGGTTGCCCGTGGCG TCCTCTGCGCCCAGCACGGACGCGGGTGGTTGCCCGTGGCGTCCTCTGCG CCCAGCACGGACGCGGGTGGTTGCCCGTGGCGTCCTCTGCGCCCAGCACG GACGCGGGTGGTTGCCCGTGGCGTCCTCTGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118420	G G	GTTCCTCC others(198): Show GTTCCTCCCAGTGTTATCCCTGAGCCTGAGTTCTCCCCAGCTTTATCCCT GAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCCAGC GTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTC CTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGC CTGAGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	235	0.0043	205	c.246 others(222): Show c.246+6762_246+6763insACTCAGGCTCAGGGATAACGCTGGGGAG GACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACG CTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCA GGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAAAGCTGGGGAGAACT CAGGCTCAGGGATAACACTGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118768	T T	TTCCTCCC others(198): Show TTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCT GAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCG TTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCT CCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCC TGAGTC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0207	1	249	0.0040	205	c.246 others(222): Show c.246+6414_246+6415insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118854	T T	TCCTCCCA others(198): Show TCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTG AGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTC CCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCT GAGTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02109.hp1 HG02622.hp2 others(6): Show HG00408.hp2 HG02109.hp1 HG02622.hp2 HG02647.hp1 HG02895.hp1 NA18967.hp1 NA18999.hp2 NA19002.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0038 a0001c0013t0018	a0001c0001t0001g0123 a0001c0001t0001g0200 a0001c0001t0003g0076 others(6): Show a0001c0001t0001g0123 a0001c0001t0001g0200 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0005g0292 a0001c0001t0006g0146 a0001c0001t0012g0092 a0001c0002t0038g0012 a0001c0013t0018g0107	9	202	0.0446	205	c.246 others(222): Show c.246+6328_246+6329insGGACTCAGGCTCAGGCAATAACGCTGGG AGGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAA CGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTC AGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAA CTCGGGCTCAGGGATAACGCTGGGAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173176	C C	CCCCCACA others(198): Show CCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCC CCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAAC ACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCA CCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAG TCCACT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0218 a0001c0001t0006g0218	1	310	0.0032	205	c.61+ others(220): Show c.61+6490_61+6491insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTG ATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTGGGGGGGTGGGCTGAGGTGATGTCGGGG GGGTGGACTGAGGTGACGTGTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAP1_chr7_892900_959680	906704	G G	GGGAAAGG others(198): Show GGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGG GGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGG GAAAGGGGAAAGGGGAAAGGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGA AAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAG GAGAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	11	0.0909	205	c.389 others(222): Show c.389-1533_389-1532insTTTCTCCTTTCTCCTTTCTCCTTTCCCT TTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCCCTTTCTCCTTTC TCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCC CCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCCC CTTTCCCCTTTCCCCTTTCCCCTTTCC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1397269	C C	CCTCTCCC others(198): Show CCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCCC TCCCGAGTGCAGGCTTCCTGGGTCACCATCAGTCTCTCCCCTCCCGAGTG GAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGCAGGCTTCC TGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACC GTCCGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0056 a0002c0002t0046g0056	1	13	0.0769	205	c.101 others(224): Show c.101-18110_101-18109insACGGACGGTGACCCAGGAAGCCTCCA CTCGGGAGGGGAGAGGCTGATGGTGACCCAGGAAGCCTGCGCTCGGGAGG GGAGAGACGGACGGTGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGACT GATGGTGACCCAGGAAGCCTGCACTCGGGAGGGGAGAGACGGACGGTGAC CCAGGAAGCCTCCACTCGGGAGGGGAGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541238	C C	CCCAGACC others(198): Show CCCAGACCCCACTCAGACTCAGTTCAGACCCTGGATCCGTCCAGACCCCA CTCAGACGCAGTTCGGACCCTGGATCACAGCCGTCCAGACCCCACTCAGA CTCAGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGACGCAGTTCAGA CCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGG ATCCGT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	62	0.0161	205	c.101 others(226): Show c.101-162079_101-162078insACGGATCCAGGGTCTGAACTGCGT CTGAGTGGGGTCTGGACGGCTGTGATCCAGGGTCTGAACTGCGTCTGAGT GGGGTCTGGACGGATCCAGGGTCTGAACTGAGTCTGAGTGGGGTCTGGAC GGCTGTGATCCAGGGTCCGAACTGCGTCTGAGTGGGGTCTGGACGGATCC AGGGTCTGAACTGAGTCTGAGTGGGGTCTGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRL3_chr4_61195326_62083335	61847896	T T	TTATATAT others(198): Show TTATATATATAATATAAAATATATTATATATATAATATAAAATATATTAT ATATATAATATAAAATATATTATATATATAATATAAAATATATTATATAT AATATAAAATATATTATATATAATATAAAATATATTATATATATAATATA AAATATATTATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	10	0.1000	205	c.148 others(226): Show c.1480+34015_1480+34016insTAATATAAAATATATTATATATAT AATATAAAATATATTATATATATAATATAAAATATATTATATATATAATA TAAAATATATTATATATAATATAAAATATATTATATATAATATAAAATAT ATTATATATATAATATAAAATATATTATATATATAATATAAAATATATTA TATATATAATATAAAATATATTATATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGPAT2_chr9_136668143_136692457	136675317	C C	CAGGGGGC others(198): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAG GGAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0002g0203 a0001c0001t0001g0148 a0001c0001t0002g0203	2	229	0.0087	205	c.589 others(220): Show c.589-511_589-510insCCCTCCCTGCTGCCAGTCCCCAGCCTACCT GCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCC CTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCC TGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAG TCCCCAGCCTACCTGCTGGCCCCCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675347	C C	CAGCAGGG others(198): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG01069.hp1 others(24): Show HG00323.hp2 HG00558.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01258.hp2 HG01884.hp1 HG02071.hp2 HG02129.hp2 HG02273.hp2 HG02293.hp2 HG02630.hp2 HG02735.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp2 NA19000.hp2 NA19010.hp2 NA19078.hp2 NA19082.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0013t0002	a0001c0001t0001g0009 a0001c0001t0001g0210 a0001c0001t0002g0004 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0210 a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0096 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0008g0046 a0001c0001t0008g0112 a0001c0001t0012g0098 a0001c0013t0002g0145	27	324	0.0833	205	c.589 others(220): Show c.589-541_589-540insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(198): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20905.hp2 HG02922.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0099 a0001c0001t0002g0013 a0001c0001t0002g0099	2	157	0.0127	205	c.589 others(220): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(198): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	156	0.0064	205	c.589 others(220): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT4_chr6_161124967_161279061	161265121	T T	TGCTGGAC others(198): Show TGCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACTGGGTGCTGATT AGTACCCACCGCTGGACTGGGTGCTGATTAGTACCCACCGCTGGACTGGG TGCTGATTAGTACCCACCGCTGGACTGGGTGCTGGATTAGTACCCACCGC TGGACTGGGTGCTGATTAGTACCCACCGCTGGACTGGGTGCTGACTAGTA CCCACC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01099.hp2 others(24): Show HG00621.hp1 HG00735.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02083.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG03486.hp1 HG03516.hp2 HG03834.hp2 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18977.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0001c0001t0042 a0001c0001t0054 a0001c0001t0061 a0001c0001t0066 a0001c0001t0070 a0001c0002t0004 a0001c0002t0016 a0001c0002t0023 a0001c0002t0039 a0001c0002t0072 a0001c0003t0032 a0001c0003t0079	a0001c0001t0002g0200 a0001c0001t0003g0180 a0001c0001t0005g0179 others(24): Show a0001c0001t0002g0200 a0001c0001t0003g0180 a0001c0001t0005g0179 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0010g0251 a0001c0001t0027g0177 a0001c0001t0042g0161 a0001c0001t0054g0252 a0001c0001t0061g0174 a0001c0001t0066g0178 a0001c0001t0070g0175 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0151 a0001c0002t0004g0176 a0001c0002t0016g0145 a0001c0002t0016g0149 a0001c0002t0016g0152 a0001c0002t0016g0190 a0001c0002t0016g0191 a0001c0002t0023g0150 a0001c0002t0039g0119 a0001c0002t0072g0162 a0001c0003t0032g0250 a0001c0003t0079g0006	27	227	0.1189	205	c.-90 others(222): Show c.-90+8816_-90+8817insGGTGGGTACTAGTCAGCACCCAGTCCAG CGGTGGGTACTAATCAGCACCCAGTCCAGCGGTGGGTACTAATCCAGCAC CCAGTCCAGCGGTGGGTACTAATCAGCACCCAGTCCAGCGGTGGGTACTA ATCAGCACCCAGTCCAGCGGTGGGTACTAATCAGCACCCAGTCCAGCGGT GGGTACTAATCCAGCACCCAGTCCAGC	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AHRR_chr5_316714_443285	391308	T T	TGGGGCCA others(198): Show TGGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGTGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGC GAGGCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0106 a0001c0001t0018g0106	1	99	0.0101	205	c.351 others(224): Show c.351+14595_351+14596insGCCAGAGCGTGCACGGGCGCAGGGCG AGGCGGGTGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGA TGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAT GAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCA GGGCGAGGCAGGCGCAGGGCGAGGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(198): Show GGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGAGAGGG GGAGAGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAG GGGGGAGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGG GGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGGAGAG GGGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0099 a0001c0001t0024g0099	1	36	0.0278	205	c.667 others(220): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCCTCCCCCCTCTCT CCCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTC TCCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCTCTCCCCTCTCCCC CCTCTCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406096	A A	AGGGGGAG others(198): Show AGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGAG GGGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGA GGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGA GAGAGGGGGAGGGGGGGAGAGGGGAGAGGAGAGAGAGGAGGGGGAGGGGG GGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0215 a0001c0001t0009g0215	1	108	0.0093	205	c.667 others(220): Show c.667-853_667-852insCTCTCCCCCCCTCCCCCTCCTCTCTCTCCT CTCCCCTCTCCCCCCCTCCCCCTCTCTCCCTTCTCTCTCCCCTCTCCCCT CCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCCCCTCCCCTCCCCCCTTC CCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANXA2R_chr5_43034371_43045319	43043837	T T	TAATATAT others(198): Show TAATATATAATATATATAATATATTATATAATATATAATATATATAATAT ATTATATAATATATAATATATATAATATATTATATAATATATAATATATA TAATATATTATATAATATATAATATATATAATATATTATATAATATATAA TATATATAATATATTATATAATATATAATATATATAATATATTATATTAT ATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	277	0.0036	205	c.-37 others(216): Show c.-3792_-3791insTTATATATAATATAATATATTATATATATTATAT ATTATATAATATATTATATATATTATATATTATATAATATATTATATATA TTATATATTATATAATATATTATATATATTATATATTATATAATATATTA TATATATTATATATTATATAATATATTATATATATTATATATTATATAAT ATATTATATATATTATATATT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3519		chr5	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(198): Show AATATATAATATATATTATATATATAATTGTATATAATATATATTATATA TAATTGTATATATAATATATATTATATATATAATGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATATAATTGTATATATAATATATATTATATATAT AATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01169.hp1 others(9): Show HG01069.hp1 HG01168.hp1 HG01169.hp1 HG02257.hp2 HG02486.hp1 HG02717.hp2 HG03041.hp1 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065	12	45	0.2667	205	c.-12 others(216): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT AATATATATTATATATAATTGTATATATAATATATATTATATATATAATG TATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATATAATTGTATATATAATATATATTATATATATAATTGTATATATAAT ATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1840030	C C	CTGGTGTG others(198): Show CTGGTGTGGGGACAGTCTGGTGTGGAAGCTGTCAGGTGTGGAAGCTGTCT GGTGGGGACAGTCCGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTG TGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTG GAAGCTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGA AGCTGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0130 a0012c0130	a0012c0130t0061 a0012c0130t0061	a0012c0130t0061g0342 a0012c0130t0061g0342	1	337	0.0030	205	c.-47 others(222): Show c.-47-3323_-47-3322insTGGTGTGGGGACAGTCTGGTGTGGAAGC TGTCAGGTGTGGAAGCTGTCTGGTGGGGACAGTCCGGTGTGGGGACTGTC CGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGT GTGGAAGCTGTCTGGTGTGGAAGCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049643	G G	GGGCAGAG others(198): Show GGGCAGAGGGGAACACATGGAGGGCAGAGGAGAACACATGGGGGCAGAGG AGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACAT GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACA CATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	235	0.0043	205	c.50 others(216): Show c.5087_*5088insTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCC CCATGTATTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTT CTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCC CTCCATGTGTTCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2460		chr8	TogoVar
ASZ1_chr7_117358222_117432493	117373257	T T	TTTAAGAT others(198): Show TTTAAGATACATCCCAGTAATGTATCTTAGAAGTTTGCTATTATTTTCAT TGGAGGCTGACATTGCTTGCTTTTTATAACCTTTCCTTCTAGAAATAGTG TAAGAAACTTTGTATAGTATGTAGTCAAAACTTCTACAAGTAAGAATTTC TGTATGGGCTTAGAAGTATCCTTTGGGGGCTAGGATGGTGGCTCACGCCT ATAATG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19082.hp1 NA19070.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	304	0.0066	205	c.105 others(224): Show c.1056-4541_1056-4540insCATTATAGGCGTGAGCCACCATCCTA GCCCCCAAAGGATACTTCTAAGCCCATACAGAAATTCTTACTTGTAGAAG TTTTGACTACATACTATACAAAGTTTCTTACACTATTTCTAGAAGGAAAG GTTATAAAAAGCAAGCAATGTCAGCCTCCAATGAAAATAATAGCAAACTT CTAAGATACATTACTGGGATGTATCTTAA	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(198): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATATAGATTATATATATAATCTATGTTATATATAATATAGATTATAT ATATAATATAGATTATATAATCTATATTATATATAATCTATATTATATAT AATATAGATTATATAATCTATATTATATATATAATCTATATTATATATAA TATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	143	0.0070	205	c.37 others(216): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATATAGATTATATATATAATCTATGTTATATA TAATATAGATTATATATATAATATAGATTATATAATCTATATTATATATA ATCTATATTATATATAATATAGATTATATAATCTATATTATATATATAAT CTATATTATATATAATATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
ATP13A3_chr3_194397677_194492002	194421153	A A	AGTTTATA others(198): Show AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03834.hp1 HG01192.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0018 a0001c0001t0011g0281 a0001c0001t0004g0018 a0001c0001t0011g0281	2	279	0.0072	205	c.331 others(224): Show c.3314-1187_3314-1186insAACTATATATATAGTATATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA AACTATATATATAGTATATATATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79326064	G G	GGTGTTAG others(198): Show GGTGTTAGGGTGTCACCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGG GTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCT CTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCT CCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCCCGT CATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0058 a0001c0024t0004g0058	1	294	0.0034	205	c.177 others(224): Show c.1774-3022_1774-3021insTCTCTGTACCCTCCCTCCCCTCACAT GGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGG GTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCC CTGCACACTCCCTCCCGTCATATAGTGTTAGGGTGTCACCTCTGTACCCT CCCTCCCCTCACATGGTGTTAGGGTGTCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

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