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
PXDN_chr2_1626887_1749515	1720186	G G	GGAGGGAT others(417): Show GGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAG AGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGAT GCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGAGGGATGCAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG02809.hp1 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0004 a0001c0006t0013 a0001c0004t0004 a0001c0006t0013	a0001c0004t0004g0311 a0001c0006t0013g0309 a0001c0004t0004g0311 a0001c0006t0013g0309	2	322	0.0062	424	c.200 others(443): Show c.200+24069_200+24070insTCTGCATCCCTCCCTCCCTCTCTCTC TCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTC TCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCA TCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTC TCTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTC TCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTC TCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(417): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAG GGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCT GGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCTGGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp1 others(4): Show HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023	a0001c0001t0010g0032 a0001c0001t0010g0046 a0001c0001t0011g0110 others(4): Show a0001c0001t0010g0032 a0001c0001t0010g0046 a0001c0001t0011g0110 a0001c0001t0012g0030 a0001c0001t0012g0031 a0001c0001t0012g0104 a0001c0001t0023g0103	7	295	0.0237	424	c.809 others(441): Show c.809-2991_809-2990insTGCAGGGGCGTCAGGGAGGAGGTGCAGG GGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTC AGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAG GAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468286	A A	AGGGGCGT others(417): Show AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAG GTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGATGCCG GGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAG GGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00609.hp2 others(24): Show HG00544.hp1 HG00558.hp1 HG00609.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02083.hp1 HG02135.hp2 HG02273.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp2 NA18954.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18984.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0001t0048 a0001c0001t0051 a0001c0001t0055 a0001c0004t0003	a0001c0001t0003g0060 a0001c0001t0003g0180 a0001c0001t0003g0213 others(24): Show a0001c0001t0003g0060 a0001c0001t0003g0180 a0001c0001t0003g0213 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0059 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0178 a0001c0001t0004g0201 a0001c0001t0005g0066 a0001c0001t0007g0053 a0001c0001t0008g0063 a0001c0001t0008g0065 a0001c0001t0008g0068 a0001c0001t0011g0179 a0001c0001t0017g0049 a0001c0001t0017g0057 a0001c0001t0017g0061 a0001c0001t0017g0087 a0001c0001t0028g0091 a0001c0001t0048g0050 a0001c0001t0051g0064 a0001c0001t0055g0058 a0001c0004t0003g0052	27	295	0.0915	424	c.809 others(441): Show c.809-2991_809-2990insTGCAGGGGCGTCAGGGAGGAGGTGCAGG GGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTC AGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAG GAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGATG CCGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468286	A A	AGGGGTGT others(417): Show AGGGGTGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAG GTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGATGCCG GGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAG GGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01109.hp2 others(4): Show HG00323.hp2 HG01106.hp1 HG01109.hp2 HG02145.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0006c0010	a0001c0001t0007 a0001c0001t0042 a0001c0002t0009 others(3): Show a0001c0001t0007 a0001c0001t0042 a0001c0002t0009 a0001c0002t0019 a0001c0014t0052 a0006c0010t0005	a0001c0001t0007g0082 a0001c0001t0042g0085 a0001c0002t0009g0081 others(4): Show a0001c0001t0007g0082 a0001c0001t0042g0085 a0001c0002t0009g0081 a0001c0002t0009g0269 a0001c0002t0019g0285 a0001c0014t0052g0069 a0006c0010t0005g0080	7	295	0.0237	424	c.809 others(441): Show c.809-3005_809-3004insTGTCAGGGAGGAGGTGCAGGGGCGTCAG GGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCT GGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGATGCCGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG AGGTCCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGG TCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468286	A A	AGGGGTGT others(417): Show AGGGGTGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGATGCCGGGGCCTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAG GGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0037 a0001c0002t0019g0037	1	295	0.0034	424	c.809 others(441): Show c.809-3005_809-3004insTGTCAGGGAGGAGGTGCAGGGGCGTCAG GGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCT TGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGATGCCGGGGCC TCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG AGGTCCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGG TCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504502	T T	TTCCTGTA others(417): Show TTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCT TGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACC CCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTATACC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCCTCACCTCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0002 a0008c0019t0002	a0008c0019t0002g0114 a0008c0019t0002g0114	1	295	0.0034	424	c.139 others(443): Show c.1396-1013_1396-1012insACCTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTCCTATACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTG CACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114043890	G G	GCCCCCCC others(417): Show GCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGCC TCACTCGCTGAGCCGCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCC GCCTCACTCGCTGAGCACCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCC CCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCC CCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGCCTCACTCG CTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGCC TCACTCGCTGAGCTCCCCCCGCCGCCTCACTCGCTGAGCCCCCCCCCCGC CCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCC CCCCCCGCCTCACTCGCTGAGCCCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	67	0.0149	424	c.278 others(441): Show c.278-2797_278-2796insGGGGCTCAGCGAGTGAGGCGGGGGGGGG GGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGAGCTCAGCGAGTGAGGC GGGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGA GTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGC TCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGG GGCTCAGCGAGTGAGGCGGGGCGGGGGGGGTGCTCAGCGAGTGAGGCGGG GGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGCGGCTCAGCGAGTGAGGC GGGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099833	C C	CCCCCCAC others(417): Show CCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCCC ACAGCCCCCCACAGCCCCCCCAGCAGCCCCCACACAGCCCCCCACAGCAG CCCCCCCACAGCCCCCCGCAGCCCCCCCAGCAGCCCCCACACAGCAGCCC CCCCACAGCCCCCCACAGCAGCCCCCCACAGCAGCCCCCCCACAGCCCCC CGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCAC AGCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCCA CAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCC CCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCACACAGCCCCCACA GCAGCCCCCCCACAGCCCCCCGCAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	67	0.0149	424	c.56- others(441): Show c.56-25997_56-25996insCTGCGGGGGGCTGTGGGGGGGCTGCTGT GGGGGCTGTGTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGG CTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGG GGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTG GGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGCGGGG GGCTGTGGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGGCTGTGGGGGGG CTGCTGTGTGGGGGCTGCTGGGGGGGCTGCGGGGGGCTGTGGGGGGGCTG CTGTGGGGGGCTGTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGCTGTGGG GGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(417): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTATGTA TGTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTGTA CACATACATATGTATGTATGTGTACACATACATATGTATGTGTACACATA CATATGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	452	0.0022	424	c.-23 others(435): Show c.-2310_-2309insGTATGTGTACACATACATACATATGTATGTGTAC ACATACATATGTATGTGTACACATACATACATATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGT ATGTATACACATACATACGTATGTATGTATACACATACATACGTATGTAT ACACATACATACGTATGTATGTATACACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGTATACACATACATACATACGTATGTATACACATACAT ACATATGTATGCATACACATACATATGTATGCATACACATACATATGTAT GCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(417): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTACACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTA CACATACGTATGTATGTGTACACATACATATGTATGTATGTGTACACATA CATATGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	424	c.-23 others(435): Show c.-2310_-2309insGTATGTGTACACATACATACATATGTATGTGTAC ACATACATACATATGTATGTGTACACATACATACGTATGTGTACACATAC ATACATATGTATGTGTACACATACATACGTATGTGTACACATACATACGT ATGTATGTATACACATACATACGTATGTGTACACATACATACGTATGTAT GTATACACATACATACGTATGTATACACATACATACATATGTATGTATAC ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGTATACACATACATACATACGTATGTATACACATACAT ACATACGTATGCATACACATACATATGTATGCATACACATACATATGTAT GCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RTP3_chr3_46492976_46505950	46494996	C C	CGGGAGGG others(417): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCACCCCCCCCGCCCGGCCAGCTGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCATC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02965.hp1 HG02486.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	426	0.0047	424	c.-30 others(435): Show c.-3067_-3066insGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCACCCCCCCCGCCCGG CCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCG GCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCT	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		2979		chr3	TogoVar
SARDH_chr9_133658560_133743352	133668436	T T	TCTCCATC others(417): Show TCTCCATCTTACCACTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCT CCTTCTCCCTCACCCCCCCTCTCCCCTCGCCCTCCTCTCCCCTTCTCCCT CCTCTCCCTCACCCTCACCCTCCCTCTCCTCACCCTCACCCTCCCTCTCC CTCACCCACCCCCTCCCCTCACCCTCTCTCACCCTCACCCTCCCTCTCCC CTCGCCCCTCCTCTCCCCTCGCCCCCGCTCTCGCCCTCACCCTCACCCTC CCTCTCCCTCACCCTCACCCTCCCTCTCCCCCCCCACCCTCCCTCTCCCC TCGCCCTCCCCTCTCCCTCACCCTCATCCTCCCTCTCCCTCACCCTCCCC TCCCCACCCTCGCCTCTCCCTCACCCCCCTCTCCCCTCATCCCCTCTCCC TCACCCTCCCCTCCCCTTACCTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0224 a0002c0004t0004g0224	1	262	0.0038	424	c.249 others(443): Show c.2496-1567_2496-1566insGGGAGGTAAGGGGAGGGGAGGGTGAG GGAGAGGGGATGAGGGGAGAGGGGGGTGAGGGAGAGGCGAGGGTGGGGAG GGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGAGAGGGGAGGGCGAG GGGAGAGGGAGGGTGGGGGGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGG AGGGTGAGGGTGAGGGCGAGAGCGGGGGCGAGGGGAGAGGAGGGGCGAGG GGAGAGGGAGGGTGAGGGTGAGAGAGGGTGAGGGGAGGGGGTGGGTGAGG GAGAGGGAGGGTGAGGGTGAGGAGAGGGAGGGTGAGGGTGAGGGAGAGGA GGGAGAAGGGGAGAGGAGGGCGAGGGGAGAGGGGGGGTGAGGGAGAAGGA GAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGTGGTAAGATGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(417): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACGTACATATTTATACATATATGTAT AAATACGTACATATTTATACATATATGTATAAATACATATACATATTTAT ACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0007	1	232	0.0043	424	c.43 others(435): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATA TGTATAAATATGTACGTATTTATACATATATGTATAAATATGTACGTATT TATACATATATATGTATAAATATGTACGTATTTATACATATATATGTATA AATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATA CATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATA TGTATGTATTTATACATATATATGTATAAATATGTATGTATACATATATG TATAAATATGTATGTATTTATACATATATGTATTAATACGTATTTATACA TATATGTATTAATACGTATTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SBNO2_chr19_1102638_1179268	1166040	C C	CCAAGATC others(417): Show CCAAGATCCCAGACCCCAGATCCTAGATCCCAGACCTCAGACCCCAGATC TCAGACCCCAGATCCCAGACCCCAGATCTCAGACCCCAGATCCCAGACCC CAGATCCTAGATCTCAGACCCCAGATCTCAGACCCCAGACCCCAGATCCC AGACCCCAGATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCA GATCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCA GACCCCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCCAGACCCCAG ATCACCGGATCTCAGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTA GACCTCAGACCCCAGACCCCAGACCCCAAACCTCAGACCCCAGATCCCAG ACCTCAGACCCCAGACCCCAGACTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0202 a0001c0040t0001g0202	1	203	0.0049	424	c.-12 others(443): Show c.-127+8131_-127+8132insAAGTCTGGGGTCTGGGGTCTGAGGTC TGGGATCTGGGGTCTGAGGTTTGGGGTCTGGGGTCTGGGGTCTGAGGTCT AGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCCGGTGATC TGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTCT GGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATCT GGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCTAGGATCTGGGGTCTG GGATCTGGGGTCTGGGGTCTGAGATCTGGGGTCTGAGATCTAGGATCTGG GGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGGGATCTGGGGTCTGAG ATCTGGGGTCTGAGGTCTGGGATCTAGGATCTGGGGTCTGGGATCTTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1290018	T T	TCCCCCGT others(417): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0083	1	290	0.0035	424	c.166 others(441): Show c.1663-250_1663-249insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290173	C C	CCTGCTCC others(417): Show CCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0042 a0042	a0042c0064 a0042c0064	a0042c0064t0001 a0042c0064t0001	a0042c0064t0001g0109 a0042c0064t0001g0109	1	290	0.0035	424	c.166 others(439): Show c.1663-86_1663-85insCCGTGTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCTACT others(417): Show CCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCC CAACTCTCCTCATTCTACCCCCCCCCAAGCATAGCTCCAACCCTCCCCCA CTCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTC TCCTCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCC TCACTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATT CTACCCCCCCAACAAGCATAGCTCCAACCCTCCCCTACTCTCCTCATTCT ACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACC CCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCC CCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0081 a0003c0001t0001g0081	1	280	0.0036	424	c.89- others(437): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGTAGA ATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGAA TGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGA GGAGAGTAGGGGAGGGTTGGAGCTATGCTTGTTGGGGGGGTAGAATGAGG AGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGT AGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGG GGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGA GGGTTGGAGCTATGCTTGGGGGGGGGTAGAATGAGGAGAGTTGGGGGAGG GTTGGAGCTATGCTTGGGGGGGGTAGAATGAGGAGAGTAGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3977001	C C	CCCTCCAG others(417): Show CCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGG GGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTA CCACACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCGAGGCTGCCACGCAGAGGGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0002 a0002c0055t0002	a0002c0055t0002g0101 a0002c0055t0002g0101	1	116	0.0086	424	c.199 others(443): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATGTATG others(417): Show TATGTATGTGATATGTGATATATATATCACATATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATCACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	244	0.0041	424	c.104 others(443): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATATGTGATATATATATCACATATCACATACAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(417): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0283 a0003c0006t0006g0283	1	316	0.0032	424	c.257 others(443): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC ATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(417): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0041 a0041	a0041c0073 a0041c0073	a0041c0073t0002 a0041c0073t0002	a0041c0073t0002g0293 a0041c0073t0002g0293	1	316	0.0032	424	c.257 others(443): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC ATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC2_chr19_411589_466033	433945	A A	AGATCATG others(417): Show AGATCATGAGATCATGAATAAGTGAGATTGTGAGTGAGATCGTGAGATCG TCAGCCTGTGAGTGAGTGAAATCGTGAGTGAGATCGTGAGTCTGTGAGTG AGATCATGAGTGAGCAAAATCGTGAGTGAGATCGTGAGTCTGTGAGTGAG TCTGTGAGTGAGATTGTGAGAGATCGTAAGATCGTGAGTAAAATCGTGAG TCTATGAGATCGTGAGTGAGATCACGAGTGAGATCGTGAGTGAGTCTGTG AGTGAGATCGTAAGTGGAATCGTGAGATCGTGAGTCTGTGAGATCGTGAG TGAAATCGTGAGTTATATCGTGAGTGAGTGAAATCGTGAGTGATATGAGT GAGATCATGAGTGAGATCATGAGTCAGTGAGATCATGAGATCATGAGTCA GTGAGATCATGAGATCATGAATGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02922.hp2 others(2): Show HG02572.hp1 HG02818.hp1 HG02922.hp2 HG03540.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0008 a0001c0001 a0001c0005 a0003c0008	a0001c0001t0006 a0001c0005t0006 a0003c0008t0006 a0001c0001t0006 a0001c0005t0006 a0003c0008t0006	a0001c0001t0006g0043 a0001c0001t0006g0049 a0001c0001t0006g0054 others(2): Show a0001c0001t0006g0043 a0001c0001t0006g0049 a0001c0001t0006g0054 a0001c0005t0006g0009 a0003c0008t0006g0185	5	212	0.0236	424	c.111 others(441): Show c.1110+763_1110+764insCTCATTCATGATCTCATGATCTCACTGA CTCATGATCTCATGATCTCACTGACTCATGATCTCACTCATGATCTCACT CATATCACTCACGATTTCACTCACTCACGATATAACTCACGATTTCACTC ACGATCTCACAGACTCACGATCTCACGATTCCACTTACGATCTCACTCAC AGACTCACTCACGATCTCACTCGTGATCTCACTCACGATCTCATAGACTC ACGATTTTACTCACGATCTTACGATCTCTCACAATCTCACTCACAGACTC ACTCACAGACTCACGATCTCACTCACGATTTTGCTCACTCATGATCTCAC TCACAGACTCACGATCTCACTCACGATTTCACTCACTCACAGGCTGACGA TCTCACGATCTCACTCACAATCTCACTTATTCATGATCTCATGATC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC10A7_chr4_146248981_146526940	146286297	A A	AGTTTGGA others(417): Show AGTTTGGAGTGGTGAGAAGGACTGTGTTTGGAGTGGTGAGAAGGACTGAG TTTGGAGTGGTGAGAAGGACTGTGTTTGGAGTGGTGAGAAGGACTGTGTT TGCAGTGGTGAGAAGGACTCTGGAGTGGTGAGAAGGACTGAGTTTGGAGT GGTGAGAAGGACTGAGTTTGGAGTGGTGAGAAGGACTGAGTTTGGAGTGG TGAGAAGGACTGAGTTTGGAGTGGTGAGAAGGACTGTGTCTGGAGTGGTG AGAAGGACTGTGTCTGGAGTGGTGAGAAGGACTGAGTTTGGAGTGGTGAG AAGGACTGTGTTTGGAGTGGTGAGAAGGACTGTGTTTGGAGTGGTGAGAG TTTGTGTTTGGAGTGGTGAGAAGGACCGTGTTTGCAGTGGTGAGAAGGAC TGTTTGGAGTGATGAGAAGGACTGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	244	0.0041	424	c.774 others(441): Show c.774-3033_774-3032insACAGTCCTTCTCATCACTCCAAACAGTC CTTCTCACCACTGCAAACACGGTCCTTCTCACCACTCCAAACACAAACTC TCACCACTCCAAACACAGTCCTTCTCACCACTCCAAACACAGTCCTTCTC ACCACTCCAAACTCAGTCCTTCTCACCACTCCAGACACAGTCCTTCTCAC CACTCCAGACACAGTCCTTCTCACCACTCCAAACTCAGTCCTTCTCACCA CTCCAAACTCAGTCCTTCTCACCACTCCAAACTCAGTCCTTCTCACCACT CCAAACTCAGTCCTTCTCACCACTCCAGAGTCCTTCTCACCACTGCAAAC ACAGTCCTTCTCACCACTCCAAACACAGTCCTTCTCACCACTCCAAACTC AGTCCTTCTCACCACTCCAAACACAGTCCTTCTCACCACTCCAAAC	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	9/11			chr4	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(417): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGC CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02132.hp2 HG02559.hp2 others(18): Show HG00738.hp2 HG02132.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03579.hp2 NA18747.hp1 NA18961.hp1 NA18963.hp1 NA18983.hp2 NA19007.hp2 NA19009.hp2 NA19074.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0155 others(18): Show a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0008g0004	21	314	0.0669	424	c.209 others(441): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCG GCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(417): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTTGGGGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGC CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	314	0.0032	424	c.209 others(441): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCAACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCG GCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(417): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGC CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01517.hp1 HG01168.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0032 a0001c0001t0001g0033	2	314	0.0064	424	c.209 others(441): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCGG CCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGC CAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(417): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA AGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGA AAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAG GGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGG ACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACA GGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGG TTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCC CAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	380	0.0026	424	c.-31 others(435): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCC TTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTT CTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTC CCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCC CCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCG GCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCGGCA AACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCGGCAAAC CCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(417): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGAGGGGGA AGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGAGG GGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAG GGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGG GGAGGGGGGGGGAGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0002 a0015c0024t0002	a0015c0024t0002g0135 a0015c0024t0002g0135	1	251	0.0040	424	c.34 others(433): Show c.349_*350insCCCCGCTTCCCCTCCCCCCCCCTCCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCC CCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCC CATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCT CCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCC TTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCT CCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCT CCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(417): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	251	0.0040	424	c.34 others(433): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCA TCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCC TTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCT CCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCT CCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(417): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG GAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0032 a0001c0022t0032	a0001c0022t0032g0127 a0001c0022t0032g0127	1	251	0.0040	424	c.34 others(433): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCCTCCCCC TTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCT CCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCT CCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(417): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGG GAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0002 a0017c0021t0002	a0017c0021t0002g0125 a0017c0021t0002g0125	1	251	0.0040	424	c.34 others(433): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCT CCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCT CCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(417): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGG GAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	251	0.0040	424	c.34 others(433): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCCTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCCTCCCCCT CCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(417): Show AAGGGGAAGGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGG GGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGG GAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	251	0.0040	424	c.34 others(433): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTC CCCCTCCCCCTTCCCCCTCCCCCTTCCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161031	G G	GGGGAAGG others(417): Show GGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGA GGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGA AGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAG GGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAA GCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGA GGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGAGGGGGAAGCGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	251	0.0040	424	c.34 others(433): Show c.347_*348insTCTCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCC CATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTC CCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCC CTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCC CTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		128		chr21	TogoVar
SPOCK3_chr4_166728384_167239494	167109141	A A	AAAAATAT others(417): Show AAAAATATATATAAATATTATATATTTATATAAAATATATATAAATATTA TATATTTATATAAAATATATATAAATATTATATATTTATATAAAATATAT ATAAATATTATATATTTATATAAAATATATATAAATATTATATATTTATA TAAAAATATATATAAATATTATATATTTATATAAAAATATATATAAATAT TATATATTTATATAAAAATATATATAAATATTATATATTTATATAAAAAT ATATATAAATATTATATATTTATATAAAATATATATAAATATTATATATT TATATAAAATATATATAAATATTATATATTTATATAAAATATATATAAAT ATTATATATTTATATAAAATATATATAAATATTATATATTTATATAAAAT ATATATAAATATTATATATTTATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	144	0.0069	424	c.190 others(443): Show c.190-46605_190-46604insATATAAATATATAATATTTATATATA TTTTATATAAATATATAATATTTATATATATTTTATATAAATATATAATA TTTATATATATTTTATATAAATATATAATATTTATATATATTTTATATAA ATATATAATATTTATATATATTTTATATAAATATATAATATTTATATATA TTTTTATATAAATATATAATATTTATATATATTTTTATATAAATATATAA TATTTATATATATTTTTATATAAATATATAATATTTATATATATTTTTAT ATAAATATATAATATTTATATATATTTTATATAAATATATAATATTTATA TATATTTTATATAAATATATAATATTTATATATATTTTATATAAATATAT AATATTTATATATATTTTATATAAATATATAATATTTATATATATTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(417): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATACACGCATATATGTGTGTATA TGTGCATATACACGCATATATGTGTGTATATGTGCATATACACGCATATA TGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	188	0.0053	424	c.152 others(443): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATACACGCATATATGTGTGTATATGTGCATATACACGCATATATGTGTGT ATATGTGCATATACACGCATATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(417): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp1 HG02615.hp2 others(2): Show HG02027.hp1 HG02083.hp1 HG02615.hp2 NA18747.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0185	5	188	0.0266	424	c.152 others(443): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(417): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	188	0.0053	424	c.152 others(443): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STMN3_chr20_63634712_63658424	63641853	C C	CGCCCAGT others(417): Show CGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGC CCCTGCCCGCTCCGAGCTCCGCCCTAGCCCCGCCCCCGCCCAGTGCCCCG CCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCG AGCTCCGCCCTGGCCCCGCCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCT GCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTAG CCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCC CGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCC CTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCAGTGCCCCGCC CCCTGCTAGCCCTGTCCCCGCCCCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	388	0.0026	424	c.483 others(439): Show c.483+254_483+255insCGGGGCGGGGACAGGGCTAGCAGGGGGCGG GGCACTGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCC GGGGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGC AGGGCTAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCTAGG GCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAG GCAGGGGGCGGGGCACTGGGCGGGGGGCGGGGCCAGGGCGGAGCTCGGAG CGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGG CACTGGGCGGGGGCGGGGCTAGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCACTGGGC	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGA GAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0166 a0001c0003t0026g0166	1	276	0.0036	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCT CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0035 a0001c0004t0014 a0001c0002t0035 a0001c0004t0014	a0001c0002t0035g0055 a0001c0004t0014g0069 a0001c0002t0035g0055 a0001c0004t0014g0069	2	276	0.0073	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20805.hp2 HG03139.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0065 a0001c0002t0062 a0001c0002t0065	a0001c0002t0062g0052 a0001c0002t0065g0259 a0001c0002t0062g0052 a0001c0002t0065g0259	2	276	0.0073	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGGAGGGAGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0216 a0001c0003t0022g0216	1	276	0.0036	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0148 a0001c0002t0020g0148	1	276	0.0036	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0179 a0001c0003t0008g0179	1	276	0.0036	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0163 a0001c0002t0017g0163	1	276	0.0036	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	276	0.0036	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG AGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0274 a0001c0001t0123g0274	1	276	0.0036	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(417): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0057 a0001c0002t0019g0057	1	276	0.0036	424	c.-18 others(443): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(417): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGG AGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGG AGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0040 a0001c0001t0111g0040	1	276	0.0036	424	c.-18 others(443): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCC TCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCCCTCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTC CCTCCCCCTCTCTCTCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCC TCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTT CTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar

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