Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
PRDM15_chr21_41793225_41884344	41835940	G G	GCCGCTCT others(293): Show GCCGCTCTCCTCCCTCCCCCACAGCCCCCGCCCACTCTCCTCCCTCCCCC ACAGGCCTCGCCCGCTCTCCTCCCTCCCCCACAGGGTTTGGCCGCTCTCC TCCCTCCCCCACAGGCCTCGCCCGCTCTCCTCCCTCCCCCACAGCCCCCG CCCACTCTCCTCCCTCCCCCACAGGCCTCGCCCACTCTCCTCCCTCCCCC ACAGGGTTTGGCCGCTCTCCTCCCTCCCCCACAGGCCTCGCCCGCTCTCC TCCCTCCCCCACAGGCCTCGCCCGCTCTCCTCCCTCCCCCACAGGCCTCG C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0135 a0002c0007t0005g0135	1	203	0.0049	300	c.127 others(317): Show c.1278+172_1278+173insGCGAGGCCTGTGGGGGAGGGAGGAGAGC GGGCGAGGCCTGTGGGGGAGGGAGGAGAGCGGGCGAGGCCTGTGGGGGAG GGAGGAGAGCGGCCAAACCCTGTGGGGGAGGGAGGAGAGTGGGCGAGGCC TGTGGGGGAGGGAGGAGAGTGGGCGGGGGCTGTGGGGGAGGGAGGAGAGC GGGCGAGGCCTGTGGGGGAGGGAGGAGAGCGGCCAAACCCTGTGGGGGAG GGAGGAGAGCGGGCGAGGCCTGTGGGGGAGGGAGGAGAGTGGGCGGGGGC TGTGGGGGAGGGAGGAGAGCGG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	10/23			chr21	TogoVar
PRKN_chr6_161342417_162732766	161646536	C C	CGTGCGTG others(293): Show CGTGCGTGGCGGAGGAGGTGGCGTGTCAGTGAGAGTGGTGACTGCGTGTG CGTGCGTGGTGGAGGAGGCGGCGTATCAGTGACAGTGGTGACTGCGTGTG CATGCGTGGTGGAGGAGGTGGCGTATGAGTGACAGTGGTGACTGCGTGTG CGTGCGTGGCGGAGGAGGTGGCGTGTCAGTGAGAGTGGTGACTGCGTGTG CGTGCGTGGTGGAGGAGGCGGCGTATCAGTGACAGTGGTGACTGCGTGTG CATGCGTGGTGGAGGAGGTGGCGTATGAGTGACAGTGGTGACTGCGTGTG T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03516.hp1 HG03041.hp1 HG03209.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0006 a0001c0003t0001 a0003c0005t0001 a0001c0001t0006 a0001c0003t0001 a0003c0005t0001	a0001c0001t0006g0010 a0001c0003t0001g0032 a0003c0005t0001g0015 a0001c0001t0006g0010 a0001c0003t0001g0032 a0003c0005t0001g0015	3	32	0.0938	300	c.872 others(319): Show c.872-77121_872-77120insACACACGCAGTCACCACTGTCACTCA TACGCCACCTCCTCCACCACGCATGCACACGCAGTCACCACTGTCACTGA TACGCCGCCTCCTCCACCACGCACGCACACGCAGTCACCACTCTCACTGA CACGCCACCTCCTCCGCCACGCACGCACACGCAGTCACCACTGTCACTCA TACGCCACCTCCTCCACCACGCATGCACACGCAGTCACCACTGTCACTGA TACGCCGCCTCCTCCACCACGCACGCACACGCAGTCACCACTCTCACTGA CACGCCACCTCCTCCGCCACGCAC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(293): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01099.hp2 HG01261.hp2 others(15): Show HG00609.hp1 HG01099.hp2 HG01261.hp2 HG01943.hp1 HG02004.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG03239.hp2 HG03927.hp2 NA18612.hp2 NA18945.hp1 NA18954.hp1 NA18969.hp2 NA19004.hp1 NA19058.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0040 others(6): Show a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0236 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0006g0260	18	318	0.0566	300	c.-44 others(311): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT GGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGT GACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA GGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PROZ_chr13_113153648_113177386	113162680	C C	CGCCCCAC others(293): Show CGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCTCCACTCTGTCCTCCTCCTGCTCTGGTCCCTGTTC CTGTCACCCCACCCTCCTCCTGCTCAGGTGCTCAGGTCCCCGTCCCTGCT GCCACCCCCCACTCCATCCTCCTCCTGCTCAGGTCCCCATTCCTGTCACC A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	340	0.0029	300	c.260 others(315): Show c.260-329_260-328insGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCC CACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCTCCACTCTGTCCTCCT CCTGCTCTGGTCCCTGTTCCTGTCACCCCACCCTCCTCCTGCTCAGGTGC TCAGGTCCCCGTCCCTGCTGCCACCCCCCACTCCATCCTCCTCCTGCTCA GGTCCCCATTCCTGTCACCA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7			chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCTTCCT others(293): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	199	0.0050	300	c.23 others(311): Show c.2337_*2338insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133878	C C	CCCCTCTC others(293): Show CCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	217	0.0046	300	c.24 others(311): Show c.2446_*2447insCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2166		chr19	TogoVar
PRRC2B_chr9_131389086_131505193	131420477	C C	CTCTCTTT others(293): Show CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCTCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTTCTTTCTTTCTTTCT TTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTT G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0023 a0002c0006t0023	a0002c0006t0023g0154 a0002c0006t0023g0154	1	203	0.0049	300	c.-51 others(317): Show c.-51-9616_-51-9615insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTT CTTTGTTTCTTTCTTTCTTTGT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSMB10_chr16_67929506_67941850	67938322	G G	GTTGCCCA others(293): Show GTTGCCCAGGCTGGAGTGCAATAGTGTGATCTCGGCTCACCGCAACGTCC ACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAG ACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAG TGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCC ACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0007 a0001c0004t0002g0007	2	302	0.0066	300	c.-15 others(311): Show c.-1574_-1573insTATAGTGAGACCTCATCTCTACAAAAATTTTAAA AATTAGCCTGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGG CCGAGGTGGGCGGATCACTTGAGGTCAGAAGTTTGAGACCACCCTGACCA ACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGG TGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATT GTTTGAACCTGGGAGGTGGACGTTGCGGTGAGCCGAGATCACACTATTGC ACTCCAGCCTGGGCAA	PSMB10	ENSG00000205220.12	transcript	ENST00000358514.9	protein_coding		1473		chr16	TogoVar
PTPRT_chr20_42067756_43194906	43175719	G G	ACCTGGCA others(293): Show ACCTGGCAACAGAGCGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCA GCCTGGCAACAGAGCGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCA GCCTGGCAACAGAGCGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCA GCCTGGCAACAGAGCGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCA GCCTGGCAACAGAGCGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCA GCCTGGCAACAGAGAGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCA G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0051 a0004c0006t0009g0051	1	16	0.0625	300	c.88+ others(317): Show c.88+13927_88+13928insTGGAGTGCAGTGGCACAGTCAGAGCCCA GGGTCTCTCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCAGAGCCCA GGGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCAGAGCCCA GGGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCAGAGCCCA GGGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCAGAGCCCA GGGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCAGAGCCCA GGGTCTCGCTCTGTTGCCAGGT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(293): Show TATATATAATACATAATATATATTATATAATATATATAATACATAATATA TATTATATAATAATATATAATACATTATATATATTATATAATATATATAA TACATTATATATTATTATATAATATATATAATACATTATATATATTATAT AATATATATAATACATTATATATTATTATATAATATATATAATACATTAT ATATATTATATAATATATATAATACATTATATATATTATATAATATATAA TACATTATATTTTATATAATATAGATAATACATTATATATATTATATAAT A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0100 a0001c0001t0043g0100	1	61	0.0164	300	c.24+ others(317): Show c.24+13898_24+13899insTTATATAATATATATAATACATAATATA TATTATATAATAATATATAATACATTATATATATTATATAATATATATAA TACATTATATATTATTATATAATATATATAATACATTATATATATTATAT AATATATATAATACATTATATATTATTATATAATATATATAATACATTAT ATATATTATATAATATATATAATACATTATATATATTATATAATATATAA TACATTATATTTTATATAATATAGATAATACATTATATATATTATATAAT AATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TATGCATA others(293): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TGCATATATATGTATACATATATATGCATATATATATGCATACATATATA TGCATATATATATGCATACATATATATGCATACATATATGCATACATATA TATGCATACATATATGCATGCATATATATATGCATACATATATGCATGCA TATATATATGCATACATATATGCATGCATATATATATGCATACATATATG C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	308	0.0032	300	c.351 others(317): Show c.351+2947_351+2948insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATGCATATATATGTATACATATATATGCATATATATATGCAT ACATATATATGCATATATATATGCATACATATATATGCATACATATATGC ATACATATATATGCATACATATATGCATGCATATATATATGCATACATAT ATGCATGCATATATATATGCATACATATATGCATGCATATATATATGCAT ACATATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(293): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 NA18522.hp2 HG02451.hp1 HG02572.hp1 NA18522.hp2	a0011 a0011	a0011c0021 a0011c0066 a0011c0021 a0011c0066	a0011c0021t0001 a0011c0066t0001 a0011c0021t0001 a0011c0066t0001	a0011c0021t0001g0051 a0011c0066t0001g0239 a0011c0021t0001g0051 a0011c0066t0001g0239	3	335	0.0090	300	c.205 others(315): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCT CACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(293): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03139.hp2 HG03492.hp2 others(6): Show HG02738.hp1 HG03139.hp2 HG03492.hp2 HG03516.hp1 HG03831.hp2 NA18612.hp2 NA18989.hp2 NA19043.hp1 NA19043.hp2	a0001 a0034 a0038 a0001 a0034 a0038	a0001c0001 a0034c0036 a0038c0040 a0001c0001 a0034c0036 a0038c0040	a0001c0001t0001 a0001c0001t0003 a0034c0036t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0034c0036t0001 a0038c0040t0001	a0001c0001t0001g0011 a0001c0001t0003g0052 a0001c0001t0003g0242 others(2): Show a0001c0001t0001g0011 a0001c0001t0003g0052 a0001c0001t0003g0242 a0034c0036t0001g0124 a0038c0040t0001g0059	9	341	0.0264	300	c.205 others(315): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01884.hp1 others(26): Show HG00733.hp1 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG02004.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp1 HG02698.hp1 HG02818.hp1 HG02922.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18963.hp2 NA18970.hp2 NA18973.hp1 NA18984.hp2 NA19030.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA19090.hp1 NA20129.hp2	a0001 a0003 a0030 others(1): Show a0001 a0003 a0030 a0037	a0001c0001 a0001c0004 a0001c0035 others(4): Show a0001c0001 a0001c0004 a0001c0035 a0001c0053 a0003c0003 a0030c0052 a0037c0038	a0001c0001t0001 a0001c0004t0001 a0001c0035t0004 others(4): Show a0001c0001t0001 a0001c0004t0001 a0001c0035t0004 a0001c0053t0001 a0003c0003t0001 a0030c0052t0001 a0037c0038t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0004t0001g0039 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0004t0001g0039 a0001c0004t0001g0159 a0001c0004t0001g0162 a0001c0004t0001g0171 a0001c0035t0004g0057 a0001c0053t0001g0161 a0003c0003t0001g0003 a0003c0003t0001g0006 a0030c0052t0001g0154 a0037c0038t0001g0073	29	381	0.0761	300	c.205 others(315): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCT	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGCGAGGAGGGGTCGGCGTGGGCGGT GGGGAGCGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0068 a0003c0003t0001g0068	1	199	0.0050	300	c.205 others(312): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCGCTCCCCACCGCCCACGCCGACCCCTCCTCGCTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02280.hp2 HG02683.hp1 others(4): Show HG01106.hp2 HG02280.hp2 HG02683.hp1 HG03491.hp1 HG03540.hp1 NA18952.hp1 NA19003.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0001c0001t0001 a0001c0004t0001 a0003c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0004t0001g0169 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0004t0001g0169 a0001c0004t0001g0174 a0003c0003t0001g0027	7	205	0.0341	300	c.205 others(312): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02148.hp1 HG02965.hp1 others(14): Show HG00323.hp1 HG02148.hp1 HG02965.hp1 HG03098.hp1 HG03239.hp2 HG03471.hp2 NA18944.hp1 NA18947.hp2 NA18971.hp2 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19070.hp1 NA19077.hp1 NA19087.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0054 others(1): Show a0001c0001 a0001c0004 a0001c0054 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0001c0054t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0054t0001 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0004t0001g0039 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0004t0001g0039 a0001c0054t0001g0163 a0003c0003t0001g0003 a0003c0003t0001g0006	17	215	0.0791	300	c.205 others(312): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REM1_chr20_31470288_31489895	31470735	T T	TGGCTGGC others(293): Show TGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGTGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA GCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAAGCGCCCCTCACTTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCTCACCTCCCTCCCGGACGGGG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18957.hp2 NA18973.hp2 others(3): Show HG02040.hp1 NA18957.hp2 NA18973.hp2 NA19009.hp2 NA19056.hp2 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0002 a0002c0003t0002g0004	6	342	0.0175	300	c.-48 others(311): Show c.-4851_-4850insGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGTGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGAGCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC CGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAAGCGCC CCTCACTTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCTCACCT CCCTCCCGGACGGGGC	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4552		chr20	TogoVar
RER1_chr1_2386841_2410436	2401346	C C	CTCCTCCC others(293): Show CTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTC CTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTC CCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTC CTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG01243.hp2 others(16): Show HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0024 a0002c0002t0004	a0001c0001t0001g0106 a0001c0001t0004g0010 a0001c0001t0004g0018 others(10): Show a0001c0001t0001g0106 a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0039 a0001c0001t0004g0116 a0001c0001t0004g0132 a0001c0001t0004g0153 a0001c0001t0004g0164 a0001c0001t0004g0178 a0001c0001t0013g0010 a0001c0001t0013g0144 a0001c0001t0024g0179 a0002c0002t0004g0161	19	338	0.0562	300	c.365 others(315): Show c.365+415_365+416insCCCTCCTCCTCCCTTCTTCCTCCCTCCTCC CTCCCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCC CTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCT TCTTCCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCT CCCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCT CCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTC CCTCCTCCTCCCTCCTTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(293): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTACACATACGTACGTATGTGTATACATACATACGTATGTATGTG TACACATACGTACGTATGTGTATACATACATACGTATGTATGTGTACACA TACGTACGTATGTGTACACATACATACGTATGTATGTGTACACATACGTA TGTATGTGTACACATACATATGTATGTGTACACATACGTATGTATGTGTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	377	0.0027	300	c.-23 others(311): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAT GTATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGT GTACACATACGTACGTATGTGTACACATACATACGTATGTATGTATACAC ATACGTACGTATGTGTACACATACATACGTATGTATGTATACACATACGT ACGTATGTGTACACATACATACATACGTATGTATACACATACATACATAC GTATGCATACACATACATATGTATGCATACACATACATATGTATGCATAC ACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759522	T T	TGTATGTG others(293): Show TGTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTA TGCATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACGTACGTATGTGTATACATACA TACGTATGTATGTGTACACATACGTACGTATGTGTACACATACATACGTA TGTATGTGTACACATACGTACGTATGTGTACACATACATACGTATGTATG TGTACACATACGTATGTATGTGTACACATACGTATGTATGTGTACACATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	389	0.0026	300	c.-23 others(311): Show c.-2338_-2337insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTGTACACATACATACGTATGTATGTGTACACATACGTAC GTATGTGTACACATACATACGTATGTATGTGTACACATACGTACGTATGT GTACACATACATACGTATGTATGTATACACATACGTACGTATGTATACAC ATACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGCATACACATACATATGTATGCATACACATACATAT GTATGCATACACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2113		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759538	C C	CATATGTA others(293): Show CATATGTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATG TGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTATG TATGTGTACACATACATACGTATGTATGTGTATACATACGTATGTATGTG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	423	0.0024	300	c.-23 others(311): Show c.-2354_-2353insACACATACATACGTATGTATACACATACATACGT ATGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGTAT GTGTACACATACATACGTATGTATACACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGTATACACATACATACATACGTATGTATACACATACAT ACATACGTATGCATACACATACATATGTATGCATACACATACATATGTAT GCATACACATACATAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2129		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(293): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTATACATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTATG TATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTATGTG T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	300	c.-24 others(311): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATACACATACATACGTATGTAT ACACATACATACATATGTATGTATACACATACATACATATGTATGTATAC ACATACATACGTATGTATACACATACATACGTATGTATACACATACATAC GTATGTATGTATACACATACATACGTATGTATGTATACACATACATACGT ATGTATACACATACATACGTATGTATACACATACATACGTATGTATACAC ATACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(293): Show CATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTATG TATGTGTATACATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACA TACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATACATA CGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTATGTG T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18964.hp1 NA18960.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	414	0.0048	300	c.-24 others(311): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACGTAT GTATACACATACATACGTATGTATACACATACATACATATGTATGTATAC ACATACATACATATGTATGTATACACATACATACGTATGTATACACATAC ATACGTATGTATACACATACATACGTATGTATGTATACACATACATACGT ATGTATGTATACACATACATACGTATGTATACACATACATACGTATGTAT ACACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RHOD_chr11_67051847_67077017	67064105	C C	CAAAAAAA others(293): Show CAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGGTTGCAGTGAGCC AGATCACGCCATTGCACTGCAGCCTGGGTGACAGAGTGAGACTCCGTCTC A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	283	0.0035	300	c.133 others(317): Show c.133-1497_133-1496insGTCTCAAAAAAAAAAAAAAAAAAAAGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAA CCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACGCCATTGCACTGCAGC CTGGGTGACAGAGTGAGACTCC	RHOD	ENSG00000173156.7	transcript	ENST00000308831.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
RIMBP2_chr12_130391133_130721299	130646382	A A	ACCACTTC others(293): Show ACCACTTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCAC CACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACC TCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTC CCTCGCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCC TCACCACCTCCCTCACCACCTCCCTCGCCACCTCCCTCACCACTTCCCTC T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	132	0.0076	300	c.-35 others(321): Show c.-351-17927_-351-17926insAGAGGGAAGTGGTGAGGGAGGTGG CGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAGGTGGCGAGGGAGGTGGTGAGGGAGGTGGAGAG GGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAA GTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGT GGAGAGGGAGGTGGTGAGGGAAGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS1_chr6_71881550_72408145	72152722	A A	ATATATAT others(293): Show ATATATATATATGGAATATATGTATATATATGTGAATATATATATATATG GAATATATGTATATATATGTATATATATGGAATATATGTATATATATGTA TATATATGGAATATATGTATATATATGTATATATATGGAATATATGTATA TATATGTATATATATGGAATATATGTATATATATGTATATATATGGAATA TATGTATATATATGTATATATATGGAATATATGTATATATATGTATATAT ATGGAATATATGTATATATATGTATATATATGGAATATATGTATATATAT G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	138	0.0072	300	c.472 others(319): Show c.472-26844_472-26843insATGGAATATATGTATATATATGTGAA TATATATATATATGGAATATATGTATATATATGTATATATATGGAATATA TGTATATATATGTATATATATGGAATATATGTATATATATGTATATATAT GGAATATATGTATATATATGTATATATATGGAATATATGTATATATATGT ATATATATGGAATATATGTATATATATGTATATATATGGAATATATGTAT ATATATGTATATATATGGAATATATGTATATATATGTATATATATGGAAT ATATGTATATATATGTATATATAT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50666191	T T	TCTTTTCT others(293): Show TCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	277	0.0036	300	c.3+2 others(315): Show c.3+24934_3+24935insGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAAAGAAAAGAAAAGAAA AGAAAAGAAGAAAAGAAAAG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF213_chr17_80255852_80403794	80314856	G G	GAGGTACT others(293): Show GAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGT GATGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGA TGGTGGAGGTACTAGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTA ATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGA GGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGG TGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTG A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 HG03209.hp1 HG02451.hp2 HG03041.hp1 HG03209.hp1	a0058 a0075 a0078 a0058 a0075 a0078	a0058c0049 a0075c0048 a0078c0107 a0058c0049 a0075c0048 a0078c0107	a0058c0049t0014 a0075c0048t0051 a0078c0107t0023 a0058c0049t0014 a0075c0048t0051 a0078c0107t0023	a0058c0049t0014g0243 a0075c0048t0051g0245 a0078c0107t0023g0081 a0058c0049t0014g0243 a0075c0048t0051g0245 a0078c0107t0023g0081	3	160	0.0188	300	c.281 others(319): Show c.2811+1689_2811+1690insAGGTACTGGAGGTGATGGTGGTGGAC GTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTAAT GGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACTAGAGGTGATGGCGG TCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTG GAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGT GGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGG TGGTGGTGGAGGTACTGGAGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF223_chr1_1065967_1079306	1076342	C C	CCGGGAGG others(293): Show CCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGTGGCTGAGTCTATGG GGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCT GAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTC G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	197	0.0051	300	c.-23 others(311): Show c.-2337_-2336insCGACGGAGTCCCCATAGCCTCAGCCTCCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGAGTCCCCA TAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCAC GGAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGC CTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCG TAGACTCAGCCTCCCG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2037		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076609	G G	GCCGGGAG others(293): Show GCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTATG GGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGC TGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	285	0.0035	300	c.-26 others(311): Show c.-2604_-2603insGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC TCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCAT AGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCACG GAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCC ACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGAGTCCCCGT AGACTCAGCCTCCCGG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2304		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076609	G G	GCCGGGAG others(293): Show GCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGTGGCTGAGTCTATG GGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 NA18971.hp1 HG01123.hp2 NA18971.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0001 a0006c0012t0001g0048 a0001c0001t0001g0001 a0006c0012t0001g0048	2	286	0.0070	300	c.-26 others(311): Show c.-2604_-2603insGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGAGTCCCCAT AGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCC TCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCGT AGACTCAGCCTCCCGG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2304		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076821	G G	GGGGAGGC others(293): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGAGGGGTGGCTG AGTCTATGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTG AGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	298	0.0034	300	c.-28 others(311): Show c.-2816_-2815insCCCACGGAGTCCCCGTAGCCTCAGCCTCCCGGCA CGGAGTCCCCGTAGCCTCAGCCTCCCGGCACGGAGTCCCCGTAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCACCCCTCA CGGAGTCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCGTAGCCTCAG CCTCCCCGCACGGAGTCCCCGTAGCCTCAGCCTCCCGGCACGGAGTCCCC GTAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2516		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076970	G G	GGGGGAGG others(293): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGG GGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCT GAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	175	0.0057	300	c.-29 others(311): Show c.-2965_-2964insGCACGGAGTCCCCGTAGCCTCAGCCTCCCCCAAC GGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGC CTCCCCCAACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCA TAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCAC GGAGTCCCCATAGACTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCA TAGCCTCAGCCTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2665		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077335	A A	AGGCTGAG others(293): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGGAGGCTGAGGCTATGGGGAC TCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGG CTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	285	0.0035	300	c.-33 others(311): Show c.-3330_-3329insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCATAGCCTCAGCCTCCCC CCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCT CAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCCACGGAGT CCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3030		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077455	A A	AGGCTGAG others(293): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGAGGGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	291	0.0034	300	c.-34 others(311): Show c.-3450_-3449insACCCCTCACGGAGTCCCCGTAGCCTCAGCCTCCC CCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCC TCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGT CCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCC CCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCC TCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGT CCCCGTAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3150		chr1	TogoVar
RPH3AL_chr17_207389_357807	233937	A A	AGGGAGCG others(293): Show AGGGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGCGGGGAGCGGCT ACTTCCCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACC AACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGC AGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTAC TTCCCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAA CTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGC G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02055.hp2 others(5): Show HG01243.hp1 HG01884.hp1 HG02055.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG03516.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0002c0011t0001	a0001c0001t0001g0089 a0001c0001t0006g0095 a0001c0001t0006g0105 others(5): Show a0001c0001t0001g0089 a0001c0001t0006g0095 a0001c0001t0006g0105 a0001c0002t0001g0073 a0001c0002t0001g0123 a0001c0002t0006g0060 a0001c0003t0001g0075 a0002c0011t0001g0016	8	102	0.0784	300	c.613 others(319): Show c.613+13173_613+13174insCGCTTGGGGGAAAGTTGGTCAGGGTA AGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCC TGCTCGGGGAAGTTGGTCAGGGGAAGTAGCCGCTCCCTGCTCGGGGAAGT TGGTCAGGGTAAGTAGCCGCTCCCTGCTCGGGGAAGTTGGTCAGGGTAAG TAGCCGCTCCCTGCTCGGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTG CTCGGGGAAGTTGGTCAGGGGAAGTAGCCGCTCCCCGCTTGGGGGAAAGT TGGTCAGGGTAAGTAGCCGCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235685	C C	CTAACAAG others(293): Show CTAACAAGATGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA CTAACAAGATGGATCCTGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCA GTAACAAGAGGGATCCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTCCGCA CTAACAAGACAGATCCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCTGCA G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0003 a0004c0013t0003	a0004c0013t0003g0036 a0004c0013t0003g0036	1	123	0.0081	300	c.613 others(319): Show c.613+11425_613+11426insCTGCAGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCTGGATCTGTCTTGTTAGTGCGGAGCCTCGGCCGACCCCAGCT TTGAACCCTGGATCCCTCTTGTTACTGCAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCAGGATCCATCTTGTTAGTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGATCCATCTTGTTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235985	C C	CTAACAAG others(293): Show CTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCCAAGGCTCCACA CTAACGAGACGGGTCCATGGGTCAAAGCTGGGGTCGGCCAAGGCTCTGCA G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01515.hp2 HG00323.hp2 HG01515.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0016 a0004c0013t0003 a0001c0001t0016 a0004c0013t0003	a0001c0001t0016g0081 a0004c0013t0003g0036 a0001c0001t0016g0081 a0004c0013t0003g0036	2	113	0.0177	300	c.613 others(319): Show c.613+11125_613+11126insCTGCAGAGCCTTGGCCGACCCCAGCT TTGACCCATGGACCCGTCTCGTTAGTGTGGAGCCTTGGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGATCCGTCTTGTTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(293): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0251 a0001c0003t0002g0251	1	219	0.0046	300	c.-58 others(307): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RXRA_chr9_134321455_134445585	134444407	C C	CTTCCCCC others(293): Show CTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTC CTTCCCTCTCCCTCCTTCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCC CCTCCCTCCTTCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCT CTCCCTCCTTCCCCCTCCCTCCTTCCCCTCCCTCCTCCCTTCCCCCTCCC TCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCCCTCCC TCCTTCCTTCCCCCTCCCTCCTCCTTCCTCCCTCCTTCCCTCCTTCCTCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0004 a0001c0001t0043g0004	1	216	0.0046	300	c.77 others(311): Show c.7793_*7794insTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCTCCCTCCTTCCTTC CCTCTCCCTCCTTCCCCTCCCTCCTTCTTCCCTCTCCCTCCTTCCCCCTC CCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCTCCCTCC TCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTC CTCCCTTCCCCTCCCTCCTTCCTTCCCCCTCCCTCCTCCTTCCTCCCTCC TTCCCTCCTTCCTCCT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3823		chr9	TogoVar
SBNO2_chr19_1102638_1179268	1156927	C C	CAGGACCC others(293): Show CAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACC CGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGA ACGCCCACCCTCTGCAATCCCCAGGACCCGCCACTCCTGAGAACGCCCAC CCTCTGCAATCCCCCAGGACCCGCCACTCCTGAGAACGCCCACCCTCTGC AATCCCTCAGGACCCGCCACTCCTGAGAACGCCCACCCTCTGCAATCCCT T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0021	1	148	0.0068	300	c.-12 others(319): Show c.-126-2526_-126-2525insAAGGGATTGCAGAGGGTGGGCGTTCT CAGGAGTGGCGGGTCCTGAGGGATTGCAGAGGGTGGGCGTTCTCAGGAGT GGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGAGTGGCGGGT CCTGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGG ATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAG AGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGG GCGTTCTCAGGGGTGGCGGGTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(293): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02080.hp1 NA18965.hp2 others(1): Show HG02074.hp2 HG02080.hp1 NA18965.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0038 a0001c0001t0042 a0001c0001t0003 a0001c0001t0038 a0001c0001t0042	a0001c0001t0003g0262 a0001c0001t0003g0310 a0001c0001t0038g0289 others(1): Show a0001c0001t0003g0262 a0001c0001t0003g0310 a0001c0001t0038g0289 a0001c0001t0042g0297	4	271	0.0148	300	c.632 others(317): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(293): Show GGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGGTTG GGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGTTGGGTG A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0008 a0006c0015t0008	a0006c0015t0008g0273 a0006c0015t0008g0273	1	164	0.0061	300	c.464 others(313): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTG GGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGG GGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTG TTGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288755	T T	TCCCCCGT others(293): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	244	0.0041	300	c.166 others(317): Show c.1662+721_1662+722insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480607	G G	GATGGATG others(293): Show GATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGATGG ATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATGGGT GGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGA TGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGATGG GTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGG ATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGG T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	188	0.0053	300	c.198 others(319): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGTATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC16B_chr1_177923788_177975058	177955137	T T	TAAAAAAT others(293): Show TAAAAAATATTCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18906.hp1 HG02258.hp2 NA18906.hp1	a0001 a0016 a0001 a0016	a0001c0017 a0016c0024 a0001c0017 a0016c0024	a0001c0017t0001 a0016c0024t0010 a0001c0017t0001 a0016c0024t0010	a0001c0017t0001g0064 a0016c0024t0010g0065 a0001c0017t0001g0064 a0016c0024t0010g0065	2	404	0.0050	300	c.136 others(317): Show c.1366-762_1366-761insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGAATATTTTTT	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	10/25			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(293): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02572.hp2 others(2): Show HG02257.hp1 HG02486.hp1 HG02572.hp2 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0029 a0001c0001t0002 a0001c0001t0013 a0001c0001t0029	a0001c0001t0002g0046 a0001c0001t0013g0045 a0001c0001t0013g0047 others(2): Show a0001c0001t0002g0046 a0001c0001t0013g0045 a0001c0001t0013g0047 a0001c0001t0013g0054 a0001c0001t0029g0048	5	22	0.2273	300	c.137 others(317): Show c.1372+944_1372+945insTTTTTTTTTTTGAGACGGAGTGTCGCTC TGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCACGCTCC ACCTCCCGGGTTCACGCCATTCTCCTGCCTCATTCCCGAGTAGCTGGGAC TGCAGGCGCCCGCCACCACGCCCAGCTATTTTTTTTGTATTTTTAGTAGA GACGAGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGT GATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCA CCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1073260	C C	CCCCAGTG others(293): Show CCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG TGAGCCCCCAGCACACGGCATCACACTTAACGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0044 a0001c0005t0002g0044	1	115	0.0087	300	c.224 others(317): Show c.2241+372_2241+373insCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCAC TGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGC ATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCGTTAAGTG TGATGCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAG TGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098278	C C	CTAACCCT others(293): Show CTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCA GGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACA CCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACC CTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTC T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp2 HG03579.hp2 others(3): Show HG02486.hp2 HG03453.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0010 a0001c0003 a0001c0007 a0001c0010	a0001c0003t0003 a0001c0003t0017 a0001c0007t0005 others(1): Show a0001c0003t0003 a0001c0003t0017 a0001c0007t0005 a0001c0010t0005	a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0007t0005g0022 others(3): Show a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0007t0005g0022 a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0026	6	41	0.1463	300	c.125 others(317): Show c.125-4031_125-4030insAGAGGGGGGCCTGGGTGTGCAGAGGGTT AGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAG GGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGC AGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGG TGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGC TGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGG GGGCTTGGTGAGCAGAGGGTTA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar

Search by Variant

Search

Search Results