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
PROZ_chr13_113153648_113177386	113161970	C C	CCACATCC others(287): Show CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	310	0.0032	294	c.260 others(311): Show c.260-1015_260-1014insCCGTCCCTGCCACCTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCC CCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCT CCTCCTGCTCAGGTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162008	C C	CTCCCCCC others(287): Show CTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	337	0.0030	294	c.260 others(309): Show c.260-998_260-997insCCCCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162009	T T	TCCCCACA others(287): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18990.hp2 NA18968.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0189 a0001c0001t0002g0190	2	372	0.0054	294	c.260 others(309): Show c.260-998_260-997insCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCGCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162054	C C	CCACATCC others(287): Show CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	334	0.0060	294	c.260 others(309): Show c.260-931_260-930insCCGTCCCTGCCACCTCCTCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCC TCCTGCTCAGGTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162177	T T	TCCTCACA others(287): Show TCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCA TCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	368	0.0027	294	c.260 others(309): Show c.260-830_260-829insTCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCAC GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCGCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162308	A A	ACATCCTC others(287): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01257.hp2 others(7): Show HG01081.hp1 HG01109.hp2 HG01257.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02293.hp2 HG04204.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0034 a0001c0001t0001g0087 a0001c0001t0001g0088 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0165 a0001c0001t0001g0167 a0002c0003t0001g0019 a0002c0003t0001g0111	10	354	0.0282	294	c.260 others(309): Show c.260-666_260-665insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTG CTCAGCTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162432	C C	CCACATCC others(287): Show CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	366	0.0027	294	c.260 others(309): Show c.260-414_260-413insCTCCCCCCATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC TCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162434	A A	ACATCCTC others(287): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	333	0.0030	294	c.260 others(309): Show c.260-368_260-367insCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162602	T T	TCATCCTC others(287): Show TCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACATCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	180	0.0056	294	c.260 others(309): Show c.260-371_260-370insGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCC CACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACATCCCCACATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGC TCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCC CCGTCCCTGCCACC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRRC2B_chr9_131389086_131505193	131420465	C C	CTTTCTCT others(287): Show CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTCTCTCTT TCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCCTCTTTCTCTCTTC TCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCC TTCCTCCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0176 a0004c0004t0012g0176	1	196	0.0051	294	c.-51 others(311): Show c.-51-9624_-51-9623insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTC TCCTCTTTCTCTCTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC TCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCC TTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTTCTTTCTTTCTTTCTTGTTTCTTTCTTTCTTTGTTTCT TTCTTTCTTTGTTTCT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
RASA3_chr13_113972783_114137623	114070656	T T	TCCACAGT others(287): Show TCCACAGTCTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCG CCACAGTCTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCTC CACAGTCTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCC ACAGTCTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCA CAGTCTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCAC AGTCTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03471.hp1 NA18973.hp1 others(1): Show HG01981.hp1 HG03471.hp1 NA18973.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0007 a0001c0011t0001 a0001c0001t0001 a0001c0001t0007 a0001c0011t0001	a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0007g0033 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0007g0033 a0001c0011t0001g0045	4	63	0.0635	294	c.173 others(311): Show c.173+3063_173+3064insCGCCGTTTAGCGTGGACGCCGGCAGCCC TGCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGGCAGCCCT GCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGGCAGCCCTG CCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGGCAGCCCTGC CCACGTGTAAGACTGTGGAGCCGTTTAGCGTGGACGCCGGCAGCCCTGCC CACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGGCAGCCCTGCCC ACGTGTAAGACTGTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114070664	C C	CTTACACG others(287): Show CTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTC TTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCTCCACAGTCT TACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTCTT ACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTCTTA CACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTCTTAC ACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18945.hp2 NA18971.hp2 others(1): Show HG01943.hp1 NA18945.hp2 NA18971.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0002g0032 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0002g0032 a0001c0002t0002g0036	4	64	0.0625	294	c.173 others(311): Show c.173+3055_173+3056insAACTGTGGCGCCGTTTAGCGTGGACGCC GGCAGCCCTGCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCG GCAGCCCTGCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGG CAGCCCTGCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGGC AGCCCTGCCCACGTGTAAGACTGTGGAGCCGTTTAGCGTGGACGCCGGCA GCCCTGCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGGCAG CCCTGCCCACGTGTAA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114070664	C C	CTTACACG others(287): Show CTTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTC TTACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCTCCACAGTCT TACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTCTT ACACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTCTTA CACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTTTTAC ACGTGGGCAGGGCTGCCGGCGTCCACGCTAAACGGCGCCACAGTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0025 a0001c0001t0001g0051	2	62	0.0323	294	c.173 others(311): Show c.173+3055_173+3056insAACTGTGGCGCCGTTTAGCGTGGACGCC GGCAGCCCTGCCCACGTGTAAAACTGTGGCGCCGTTTAGCGTGGACGCCG GCAGCCCTGCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGG CAGCCCTGCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGGC AGCCCTGCCCACGTGTAAGACTGTGGAGCCGTTTAGCGTGGACGCCGGCA GCCCTGCCCACGTGTAAGACTGTGGCGCCGTTTAGCGTGGACGCCGGCAG CCCTGCCCACGTGTAA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RCL1_chr9_4787944_4866066	4814225	T T	TGAGGTGT others(287): Show TGAGGTGTGTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	323	0.0031	294	c.137 others(311): Show c.137-9307_137-9306insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG GAGGTGTGTTCTTTCT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RHOF_chr12_121772754_121798688	121784284	T T	TGCCTGTA others(287): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGT CAGAGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTA CTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTG CAGTGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGA CTCAGTCTCAAAAAAAAAAAAAAAAAGCTGAGCGCGGTGGCTCAC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0139 a0001c0001t0014g0139	1	378	0.0026	294	c.227 others(311): Show c.227-3093_227-3092insGTGAGCCACCGCGCTCAGCTTTTTTTTT TTTTTTTTGAGACTGAGTCTCCCTCTGTCACCAGGTTGGAGTTCAGTGGC GTGATCTTGGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCC TGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGCGCGCCACCACACCC AGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTAACCGTGTTGGCCAG GATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGC	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(287): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0059 a0001c0001t0018g0059	1	29	0.0345	294	c.-76 others(303): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24882070	A A	ATAGATAC others(287): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0181 a0003c0006t0001g0181	1	419	0.0024	294	c.23 others(305): Show c.2344_*2345insTAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2150		chr13	TogoVar
RNF213_chr17_80255852_80403794	80355618	T T	TGGGAATG others(287): Show TGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACGGAGGAAGA AGCGGGGTGGACGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCGGGA ATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTATG GAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCG GGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0087 a0087	a0087c0040 a0087c0040	a0087c0040t0002 a0087c0040t0002	a0087c0040t0002g0230 a0087c0040t0002g0230	1	171	0.0058	294	c.108 others(315): Show c.10862+1057_10862+1058insTGGAGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGAAGAAGTGGGGTGACCGGGAATGGGGGCTCA CGGAGGAAGAAGCGGGGTGGACGGGAATCGGGGCTCACGGAGGAAGAGGG GTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGAATG GGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGG GGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGG TGAACGGGAATGGGGGCTTA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(287): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGG AGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGG AGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAG GAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(25): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG01358.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02273.hp1 NA18942.hp1 NA18946.hp1 NA18952.hp1 NA18954.hp1 NA18966.hp2 NA18971.hp1 NA18983.hp2 NA18988.hp2 NA18998.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0011 a0001c0002t0004 a0001c0003t0011	a0001c0002t0004g0001 a0001c0002t0004g0016 a0001c0002t0004g0017 others(18): Show a0001c0002t0004g0001 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0277 a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0004g0284 a0001c0002t0004g0285 a0001c0002t0004g0287 a0001c0002t0004g0288 a0001c0002t0004g0289 a0001c0002t0004g0294 a0001c0002t0004g0297 a0001c0002t0004g0298 a0001c0002t0004g0300 a0001c0002t0004g0302 a0001c0002t0004g0304 a0001c0003t0011g0299 a0001c0003t0011g0303	28	29	0.9655	294	c.807 others(311): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCC CTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1288370	T T	TGTCTCTG others(287): Show TGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	285	0.0035	294	c.166 others(311): Show c.1662+336_1662+337insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288374	C C	CCTGCTCC others(287): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	134	0.0075	294	c.166 others(311): Show c.1662+354_1662+355insTCTGCTCCGTCCCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	C C	CCGTGTCT others(287): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCTGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCATGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	269	0.0037	294	c.166 others(311): Show c.1662+665_1662+666insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCTGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCATGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCGTGTCT others(287): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0171 a0003c0004t0003g0171	1	260	0.0038	294	c.166 others(311): Show c.1663-913_1663-912insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(287): Show CATATATATATATTCCCTATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATTCCATATATATATATTCCA TATATATATATTTCATATATATATATTCCATATATATATTCCATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATATATATATTCCATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	39	0.0256	294	c.115 others(311): Show c.115-2706_115-2705insATATATATATATATATGGAATATATATA TATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TATGAAATATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATAGGGAATATAT ATATATGGAATATATATATAGGGAATATATATATATGGAATATATATATA GGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(287): Show CATATATATATATTCCCTATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCCTATATATA TATTCCATATATATATATTCCATATATATATTCCATATATATATATTCCA TATATATATATTTCATATATATATATTCCATATATATATTCCATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATATATATATTCCATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	39	0.0256	294	c.115 others(311): Show c.115-2706_115-2705insATATATATATATATATGGAATATATATA TATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TATGAAATATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATAGGGAATATATATATAGGGAATATAT ATATATGGAATATATATATAGGGAATATATATATATGGAATATATATATA GGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SH3BP2_chr4_2788085_2846096	2809176	A A	AGGGCTCA others(287): Show AGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTA GGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAG GGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGG GCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCCGGG CTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGC TCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00735.hp1 others(26): Show HG00323.hp1 HG00642.hp1 HG00735.hp1 HG02145.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18984.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(9): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0009 a0001c0003t0012 a0001c0003t0015 a0001c0003t0019 a0001c0003t0023 a0001c0003t0033 a0001c0003t0034 a0001c0003t0075 a0001c0003t0092	a0001c0003t0001g0011 a0001c0003t0001g0019 a0001c0003t0002g0011 others(21): Show a0001c0003t0001g0011 a0001c0003t0001g0019 a0001c0003t0002g0011 a0001c0003t0002g0047 a0001c0003t0002g0087 a0001c0003t0002g0114 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0252 a0001c0003t0006g0002 a0001c0003t0006g0115 a0001c0003t0006g0116 a0001c0003t0009g0119 a0001c0003t0012g0011 a0001c0003t0012g0024 a0001c0003t0015g0103 a0001c0003t0019g0050 a0001c0003t0019g0051 a0001c0003t0019g0052 a0001c0003t0023g0019 a0001c0003t0033g0002 a0001c0003t0034g0120 a0001c0003t0075g0118 a0001c0003t0092g0086	29	296	0.0980	294	c.-4- others(311): Show c.-4-11425_-4-11424insGCCTTCCCCCAGGCTCTGTGCCCACCCA CCCTCCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCAC CCTCCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACC CTCCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCC TCCCCGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCT CCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTC CCCGGGCTCAGTGCCC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP2_chr4_2788085_2846096	2809176	A A	AGGGCTCA others(287): Show AGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTA GGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAG GGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGT GCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCCGGG CTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGC TCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0069 a0001c0003t0069	a0001c0003t0069g0117 a0001c0003t0069g0117	1	268	0.0037	294	c.-4- others(311): Show c.-4-11425_-4-11424insGCCTTCCCCCAGGCTCTGTGCCCACCCA CCCTCCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCAC CCTCCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACC CTCCTAGTGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCC TCCCCGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCT CCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTC CCCGGGCTCAGTGCCC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP2_chr4_2788085_2846096	2809176	A A	AGGGCTCA others(287): Show AGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTA GGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAG GGCTCAGTGCCTGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGG GCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCCGGG CTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGC TCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	268	0.0037	294	c.-4- others(311): Show c.-4-11425_-4-11424insGCCTTCCCCCAGGCTCTGTGCCCACCCA CCCTCCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCAC CCTCCTAGGGCTCAGTGCCTGCCTTCCCCCAGGCTCTGTGCCCACCCACC CTCCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCC TCCCCGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCT CCTAGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTC CCCGGGCTCAGTGCCC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCT others(287): Show CTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG02602.hp2 others(2): Show HG00735.hp2 HG01243.hp1 HG02602.hp2 HG03831.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0002c0002 a0006c0021 a0001c0004 a0002c0002 a0006c0021	a0001c0004t0003 a0002c0002t0003 a0006c0021t0003 a0001c0004t0003 a0002c0002t0003 a0006c0021t0003	a0001c0004t0003g0115 a0002c0002t0003g0030 a0002c0002t0003g0048 others(2): Show a0001c0004t0003g0115 a0002c0002t0003g0030 a0002c0002t0003g0048 a0002c0002t0003g0106 a0006c0021t0003g0044	5	93	0.0538	294	c.688 others(311): Show c.688-2426_688-2425insCCTCCTCCACTTCCTCCTCCACCTCCTC CTCTACCTCCTGCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCC ACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(287): Show CAGTCAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	70	0.0143	294	c.100 others(313): Show c.1003-9033_1003-9032insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTAGTCAAAGAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCAACC others(287): Show CCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02145.hp2 HG02165.hp2 others(10): Show HG01168.hp1 HG02145.hp2 HG02165.hp2 HG02683.hp2 HG03130.hp2 NA18522.hp2 NA18971.hp2 NA18984.hp2 NA19004.hp2 NA19009.hp1 NA19068.hp1 NA19084.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0002t0001 a0002c0003t0002	a0002c0002t0001g0196 a0002c0003t0002g0005 a0002c0003t0002g0193 others(9): Show a0002c0002t0001g0196 a0002c0003t0002g0005 a0002c0003t0002g0193 a0002c0003t0002g0194 a0002c0003t0002g0195 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0206	13	206	0.0631	294	c.113 others(311): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCGTC CGGGAGGGAGGTTGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(287): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	300	0.0033	294	c.148 others(313): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1422486	A A	ACGGTGCT others(287): Show ACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCC ACCGCTGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAC GGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGC TGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCAC CGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	371	0.0027	294	c.654 others(309): Show c.654-473_654-472insGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGC GGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGC ACCTTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGC ACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGG TGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAC CTTGGGCAGCACCG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(287): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(37): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp1 HG01256.hp2 HG01358.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02109.hp2 HG02293.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03239.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 NA18939.hp2 NA18952.hp2 NA18971.hp2 NA18977.hp1 NA18993.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0003 a0001c0002t0012 others(1): Show a0001c0001t0012 a0001c0002t0003 a0001c0002t0012 a0001c0002t0015	a0001c0001t0012g0123 a0001c0002t0003g0001 a0001c0002t0003g0017 others(26): Show a0001c0001t0012g0123 a0001c0002t0003g0001 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0045 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0149 a0001c0002t0012g0103 a0001c0002t0015g0104	40	168	0.2381	294	c.-13 others(311): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTC CCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(287): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0146 a0004c0004t0001g0146	1	6	0.1667	294	c.138 others(313): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(287): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0004 a0003c0003t0002g0004	2	7	0.2857	294	c.138 others(313): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137190011	C C	CTATAATT others(287): Show CTATAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAACCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	137	0.0073	294	c.233 others(313): Show c.233-49318_233-49317insCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGTTAAAACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAATTATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
STK32C_chr10_132202492_132312950	132284843	A A	AACACATT others(287): Show AACACATTCCCACATCTGCCCAAAGACCAGGCATGAACCCAGAACACATT CCCACATCTGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTC TGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTCTGCCCAAA GACCAGGCATGAACCCAGAACATATTCCCACATCTGCCCAAAGACCAGGC ATGAACCCAGAACACATTCTCACACGTGCCCAAAGACCAGGCATGAACCC AGAACACATTCCCACACCTGCCCAAAGACCAGGCATGAACCCAGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03098.hp2 HG03225.hp1 others(1): Show HG01257.hp1 HG03098.hp2 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0002t0003 a0001c0010t0018 a0001c0001t0002 a0001c0002t0003 a0001c0010t0018	a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0002t0003g0195 others(1): Show a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0002t0003g0195 a0001c0010t0018g0196	4	297	0.0135	294	c.262 others(313): Show c.262+22728_262+22729insCCTGGGTTCATGCCTGGTCTTTGGGC AGGTGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCACGTGTGA GAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCAGATGTGGGAATATGT TCTGGGTTCATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTT CATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTG GTCTTTGGGCAGATGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGG GCAGATGTGGGAATGTGT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132284843	A A	AACACATT others(287): Show AACACATTCCCACATCTGCCCAAAGACCAGGCATGAACCCAGAACACATT CCCACGTCTGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTC TGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTCTGCCCAAA GACCAGGCATGAACCCAGAACATATTCCCACATCTGCCCAAAGACCAGGC ATGAACCCAGAACACATTCTCACACGTGCCCAAAGACCAGGCATGAACCC AGAACACATTCCCACACCTGCCCAAAGACCAGGCATGAACCCAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp2 HG02280.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0003 a0001c0001t0002 a0002c0004t0003	a0001c0001t0002g0014 a0002c0004t0003g0057 a0001c0001t0002g0014 a0002c0004t0003g0057	2	295	0.0068	294	c.262 others(313): Show c.262+22728_262+22729insCCTGGGTTCATGCCTGGTCTTTGGGC AGGTGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCACGTGTGA GAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCAGATGTGGGAATATGT TCTGGGTTCATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTT CATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTG GTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGG GCAGATGTGGGAATGTGT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132284843	A A	AACACATT others(287): Show AACACATTCCCACATCTGCCCAAAGACCAGGCATGAACCCAGAACACATT CCCACGTCTGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTC TGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTCTGCCCAAA GACCAGGCATGAACCCAGAACATATTCCCACATCTGCCCAAAGACCAGGC ATGAACCCAGAACACATTCTCACACGTGCCCAAAGACCAGGCATGAACCC AGAGCACATTCCCACACCTGCCCAAAGACCAGGCATGAACCCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(59): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01192.hp1 HG01943.hp2 HG01993.hp2 HG02071.hp1 HG02129.hp2 HG02258.hp1 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18961.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0017 a0001c0005t0001 a0001c0005t0003 a0001c0011t0006 a0003c0006t0005 a0003c0006t0008	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(59): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0189 a0001c0001t0001g0264 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0336 a0001c0001t0001g0341 a0001c0001t0001g0349 a0001c0001t0002g0024 a0001c0001t0002g0050 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0112 a0001c0001t0002g0177 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0285 a0001c0001t0016g0074 a0001c0002t0002g0186 a0001c0002t0003g0015 a0001c0002t0003g0048 a0001c0002t0003g0083 a0001c0002t0003g0343 a0001c0003t0001g0113 a0001c0003t0017g0191 a0001c0005t0001g0022 a0001c0005t0003g0176 a0001c0011t0006g0005 a0001c0011t0006g0006 a0001c0011t0006g0007 a0003c0006t0005g0360 a0003c0006t0005g0361 a0003c0006t0008g0363	62	355	0.1746	294	c.262 others(313): Show c.262+22728_262+22729insCCTGGGTTCATGCCTGGTCTTTGGGC AGGTGTGGGAATGTGCTCTGGGTTCATGCCTGGTCTTTGGGCACGTGTGA GAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCAGATGTGGGAATATGT TCTGGGTTCATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTT CATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTG GTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGG GCAGATGTGGGAATGTGT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132284843	A A	AACACATT others(287): Show AACACATTCCCACATCTGCCCAAAGACCAGGCATGAACCCAGAACACATT CCCACGTCTGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTC TGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTCTGCCCAAA GACCAGGCATGAACCCAGAACATATTCCCACATCTGCCCAAAGACCAGGC ATGAACCCAGAACACATTCTCACACGTGCCCAAAGACCAGGCATGAACCC AGAGCACATTCCTACACCTGCCCAAAGACCAGGCATGAACCCAGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	294	0.0034	294	c.262 others(313): Show c.262+22728_262+22729insCCTGGGTTCATGCCTGGTCTTTGGGC AGGTGTAGGAATGTGCTCTGGGTTCATGCCTGGTCTTTGGGCACGTGTGA GAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCAGATGTGGGAATATGT TCTGGGTTCATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTT CATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTG GTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGG GCAGATGTGGGAATGTGT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132284843	A A	AACACATT others(287): Show AACACATTCCCACATCTGCCCAAAGACCAGGCATGAACCCAGAACACATT CCCACGTCTGCCCAAAGACCAGGCATGAACCTAGAACACATTCCCACGTC TGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTCTGCCCAAA GACCAGGCATGAACCCAGAACATATTCCCACATCTGCCCAAAGACCAGGC ATGAACCCAGAACACATTCTCACACGTGCCCAAAGACCAGGCATGAACCC AGAACACATTCCCACACCTGCCCAAAGACCAGGCATGAACCCAGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG03195.hp2 HG02257.hp2 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0028 a0001c0001t0004g0027 a0001c0001t0010g0029 a0001c0001t0001g0028 a0001c0001t0004g0027 a0001c0001t0010g0029	3	296	0.0101	294	c.262 others(313): Show c.262+22728_262+22729insCCTGGGTTCATGCCTGGTCTTTGGGC AGGTGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCACGTGTGA GAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCAGATGTGGGAATATGT TCTGGGTTCATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTT CATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTAGGTTCATGCCTG GTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTGG GCAGATGTGGGAATGTGT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STOML3_chr13_38960925_38995831	38988194	T T	TGATATTT others(287): Show TGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA TATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAAA ATATATGATATTTTATATCATATATTTTATATAAAATATATGATATTTTA TATCATATATTTTATATAAAATATATGATATTTTATATCATATATTTTAT ATAAAATATATGATATTTTATATCATATATTTTATATAAAATATATGATA TTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	285	0.0035	294	c.52+ others(309): Show c.52+2475_52+2476insTGATATAAAATATCATATATTTTATATAAA ATATATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAA TATCATATATTTTATATAAAATATATGATATAAAATATCATATATTTTAT ATAAAATATATGATATAAAATATCATATATTTTATATAAAATATATGATA TAAAATATCATATATTTTATATAAAATATATGATATAAAATATCATATAT TTTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATA TGATATAAAATATC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SUSD1_chr9_112035783_112180297	112178402	C C	CAAGAGAG others(287): Show CAAGAGAGCATGGTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAG TCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0073 a0001c0005t0005g0073	1	331	0.0030	294	c.-31 others(305): Show c.-3168_-3167insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAACC ATGCTCTCTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding		3106		chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(287): Show TATATACATATATACATATATACACATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CATATATACATATTCACATATGTGTATATATAACACATATATACACATAT GTGTATATATACATATATACATATACACATATGTGTATATATAAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	30	0.0333	294	c.158 others(313): Show c.1582-2860_1582-2859insCATATATACATATATACACATATGTG TACATATGTGTATATATACATATATATACACATATATATGTATATATACA CATATGTGAATATGTATATATGTGTTATATATACACATATGTGTATATGT ATATATACATATATACACATATGTGTATATATACATATATACATATACAC ATATGTGTATATATAACACATATATACATATTCACATATGTGTATATATA ACACATATATACACATATGTGTATATATACATATATACATATACACATAT GTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT3_chr19_50616977_50644881	50629722	G G	GGGAGTCC others(287): Show GGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCC CCCAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCCCAGCCCCTCCT CCCTCAGACCCGGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCGG GAGTCCAGGCCCCCAGCCCCTCCTCCTTCAGACCCGGGAGTCCAGGACAA GCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGAAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0227 a0001c0012t0005g0227	1	155	0.0065	294	c.106 others(309): Show c.1062+61_1062+62insTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT GGACTTCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTTGTCCTGGACTCCCGGGTCTGAAGGAGGAGGGGC TGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCCCGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCCGGGTCTGAG GGAGGAGGGGCTGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTG GGGGCCTGGACTCC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
TAF4_chr20_61969798_62070881	62057603	C C	CCAGCAAG others(287): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACA GGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18956.hp2 NA19084.hp1 others(1): Show NA18941.hp1 NA18956.hp2 NA19084.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 others(1): Show a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263	4	223	0.0179	294	c.136 others(313): Show c.1360+6847_1360+6848insAGGTTGGCCCCCGAGCCCCATTGTCT GTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGG TTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCG TCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTG GCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTG GCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTC CTTCCTGAGGTCTTGCTG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62058768	C C	CGGGGGCC others(287): Show CGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAA GGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp1 HG01517.hp2 others(1): Show HG01123.hp2 HG01515.hp1 HG01517.hp2 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0031 a0001c0005 a0001c0031	a0001c0005t0002 a0001c0031t0001 a0001c0005t0002 a0001c0031t0001	a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0005t0002g0205 others(1): Show a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0005t0002g0205 a0001c0031t0001g0286	4	240	0.0167	294	c.136 others(313): Show c.1360+5682_1360+5683insCGAGCCCCATTGTCTGTGGCCTGGTG TGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCG AGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGA GGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGT AGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCC CCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTC TTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48678997	C C	CCGTCCAT others(287): Show CCGTCCATCCCTCTCCTGGTTCCCCAGCTCCCCCTCCATCCCTCTCCCAT CTCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATCCCTCTCCTGTCTCC CCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCATCCC TCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTC CGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCGGCTCCCCA GCTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTCCCAGCTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00735.hp2 others(47): Show HG00323.hp2 HG00558.hp2 HG00735.hp2 HG01069.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02300.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02735.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18947.hp1 NA18952.hp2 NA18971.hp1 NA18972.hp2 NA18980.hp1 NA18995.hp1 NA19010.hp2 NA19012.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 a0001c0001t0031 a0001c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0146 others(47): Show a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0204 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0257 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0120 a0001c0001t0002g0139 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0209 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0221 a0001c0001t0003g0239 a0001c0001t0004g0020 a0001c0001t0005g0119 a0001c0001t0005g0143 a0001c0001t0006g0079 a0001c0001t0012g0192 a0001c0001t0015g0005 a0001c0001t0024g0202 a0001c0001t0031g0141 a0001c0002t0001g0203	50	249	0.2008	294	c.263 others(313): Show c.263-28705_263-28704insTGGTTCCCCAGCTCCCCCTCCATCCC TCTCCCATCTCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATCCCTCTC CTGTCTCCCCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCG TCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCA TCCCTCTCCGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCG GCTCCCCAGCTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTCCCAGCT CTGCGTCCATCCCTCTCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48678997	C C	CCGTCCAT others(287): Show CCGTCCATCCCTCTCCTGGTTCCCCAGCTCCCCCTCCATCCCTCTCCCAT CTCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATCCCTCTCCTGTCTCC CCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCATCCC TCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTC CGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCGGCTCCCCA GCTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTTCCAGCTCTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	200	0.0050	294	c.263 others(313): Show c.263-28705_263-28704insTGGTTCCCCAGCTCCCCCTCCATCCC TCTCCCATCTCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATCCCTCTC CTGTCTCCCCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCG TCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCA TCCCTCTCCGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCG GCTCCCCAGCTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTTCCAGCT CTGCGTCCATCCCTCTCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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