Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PROZ_chr13_113153648_113177386	113162033	G G	GTCCCCGT others(203): Show GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CGTCCCCCCATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0223 a0001c0006t0002g0223	1	378	0.0027	210	c.260 others(225): Show c.260-960_260-959insCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCCCATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCC TCCTCCTGCTCAGCTCCCCGTCCCTGCCAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162079	T T	TCGTCCCT others(203): Show TCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCT GCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTC CCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATC CTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCT GCTCAGGTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0200 a0001c0004t0003g0200	1	378	0.0027	210	c.260 others(225): Show c.260-914_260-913insTCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162092	C C	CTCCCCAC others(203): Show CTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19079.hp1 NA18944.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	2	378	0.0053	210	c.260 others(225): Show c.260-912_260-911insACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162182	A A	ACATCCTC others(203): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 HG02273.hp1 HG00642.hp1 HG01346.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178	3	378	0.0079	210	c.260 others(225): Show c.260-792_260-791insCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162345	T T	TCCTCACA others(203): Show TCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	378	0.0027	210	c.260 others(225): Show c.260-662_260-661insTCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCGCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162513	T T	TCCCCACA others(203): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	378	0.0027	210	c.260 others(225): Show c.260-414_260-413insCGCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162554	C C	CTCCCCCC others(203): Show CTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGCTCCCCG TCCCTGCCACG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	378	0.0027	210	c.260 others(225): Show c.260-450_260-449insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCC TGCTCAGCTCCCCGTCCCTGCCACGTCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162686	A A	ACATCCTC others(203): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACTGCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCT CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03516.hp1 HG02818.hp1 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0008 a0005c0007 a0001c0008 a0005c0007	a0001c0008t0005 a0005c0007t0002 a0001c0008t0005 a0005c0007t0002	a0001c0008t0005g0196 a0005c0007t0002g0222 a0001c0008t0005g0196 a0005c0007t0002g0222	2	378	0.0053	210	c.260 others(225): Show c.260-288_260-287insGTCCCCTCATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACTGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(203): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCC CCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCCCTCCCCCTCCC TCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	94	0.0106	210	c.191 others(231): Show c.191-103924_191-103923insCTCTCCACTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCC CCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCCCTCCCCC TCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXDN_chr2_1626887_1749515	1719975	A A	AGAGGGAG others(203): Show AGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGGGAGGGAGGGATGCAGAGAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAG AGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	322	0.0031	210	c.200 others(229): Show c.200+24280_200+24281insCCTCTCTCTCTCTCTACATCCCTCCC TCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTC CCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCC TCCCTCCCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGAGACC others(203): Show GGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCC AGGGCCCTCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0022 a0004c0007t0022	a0004c0007t0022g0067 a0004c0007t0022g0067	1	295	0.0034	210	c.126 others(229): Show c.1265+3462_1265+3463insAGACCCGAGGCCGTCCAGAGCCCTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTC CCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504258	A A	ACCCCCTC others(203): Show ACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCT CCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC CTCACCTCTTCCTGTACCCTTCACCTCCTCCTGTACCCCCTCACCTCCTC TTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTC ACCTCCTGTAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0039 a0001c0014t0039	a0001c0014t0039g0112 a0001c0014t0039g0112	1	295	0.0034	210	c.139 others(229): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCTTCCTGTACCCTTCACCTCCTCCTGTACCCCCTCACC TCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACC CCCTCACCTCCTGTACCCCCCTCACCTCCTCCTG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB7B_chr1_205971740_206008395	205973119	C C	CACATACC others(203): Show CACATACCACACTGCACACCACACACACACACCATATGCATACCCCACAT ACCACACTGCACACCACACACACACACCATATGCATACCCCACATACCAC ACTGCACACCACACACACAGCACACCATGCACACACACACCCTTCACACC ATGCACACACACACACCCTTCACACTGCACACCACACACACACACCACAC ATGCACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(213): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0004t0002 a0001c0005t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(191): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0270 a0001c0001t0002g0288 a0001c0001t0002g0295 a0001c0001t0004g0167 a0001c0001t0004g0179 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0237 a0001c0001t0004g0263 a0001c0001t0005g0001 a0001c0001t0005g0113 a0001c0001t0005g0116 a0001c0001t0010g0005 a0001c0001t0014g0029 a0001c0001t0017g0219 a0001c0001t0018g0206 a0001c0001t0022g0254 a0001c0001t0024g0301 a0001c0001t0025g0300 a0001c0004t0002g0148 a0001c0005t0005g0123	216	330	0.6546	210	c.57 others(221): Show c.5731_*5732insAGTGTGTGCATGTGTGGTGTGTGTGTGTGGTGTG CAGTGTGAAGGGTGTGTGTGTGTGCATGGTGTGAAGGGTGTGTGTGTGCA TGGTGTGCTGTGTGTGTGGTGTGCAGTGTGGTATGTGGGGTATGCATATG GTGTGTGTGTGTGGTGTGCAGTGTGGTATGTGGGGTATGCATATGGTGTG TGTGTGTGGTGTGCAGTGTGGTATGT		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding					3620		chr1	TogoVar
RASA3_chr13_113972783_114137623	114099906	C C	CCCCCACA others(203): Show CCCCCACAGCCCCCCACAGCCCCCCCAGCAGCCCCCACAGCAGCCCCCCC ACAGCCCCCCCAGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAG CCCCCCACAGCAGCCCCCCGTAGCCCCCCACAGCAGCCCCCCACAGCAGC CCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCC CCCCACAGCAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	67	0.0149	210	c.56- others(227): Show c.56-26070_56-26069insCTGCTGTGGGGGGCTGTGGGGGGGCTGC TGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGCTGTGGGGGGCTG CTGTGGGGGGCTACGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGG GGGGGCTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGGCTGCTGTGGG GGCTGCTGGGGGGGCTGTGGGGGGCTGTGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(203): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	304	0.0033	210	c.66+ others(225): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(203): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG01993.hp2 others(4): Show HG00438.hp1 HG01934.hp1 HG01993.hp2 HG02148.hp2 NA18747.hp2 NA18990.hp2 NA19082.hp1	a0003 a0006 a0040 a0003 a0006 a0040	a0003c0003 a0006c0009 a0040c0041 a0003c0003 a0006c0009 a0040c0041	a0003c0003t0001 a0006c0009t0001 a0040c0041t0001 a0003c0003t0001 a0006c0009t0001 a0040c0041t0001	a0003c0003t0001g0028 a0003c0003t0001g0071 a0006c0009t0001g0026 others(1): Show a0003c0003t0001g0028 a0003c0003t0001g0071 a0006c0009t0001g0026 a0040c0041t0001g0129	7	412	0.0170	210	c.205 others(225): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCAC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(203): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0027 a0027	a0027c0063 a0027c0063	a0027c0063t0001 a0027c0063t0001	a0027c0063t0001g0229 a0027c0063t0001g0229	1	412	0.0024	210	c.205 others(225): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(203): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0228 a0004c0017t0001g0228	1	412	0.0024	210	c.205 others(225): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(203): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG00280.hp2 HG01175.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0113 a0006c0009t0001g0236 a0001c0001t0001g0113 a0006c0009t0001g0236	2	412	0.0049	210	c.205 others(222): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RFX3_chr9_3213297_3531001	3505419	A A	AAAATATA others(203): Show AAAATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACT TTATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAA ATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTTATTTTATA TAAATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACT TTATTTTATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	196	0.0051	210	c.-9+ others(227): Show c.-9+20327_-9+20328insATATAAAATAAAGTATTTTATTTTATAT TTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTT TATTTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAA TAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTATTTTATAT TTATATAAAATAAAGTATTTTATTTTATATTT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(203): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0031 a0001c0001t0028g0031	1	396	0.0025	210	c.-76 others(219): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(203): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG03239.hp2 others(4): Show HG00738.hp1 HG01099.hp1 HG03239.hp2 NA18941.hp1 NA18955.hp2 NA19064.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0020 a0001c0007t0021 others(1): Show a0001c0001t0001 a0001c0001t0020 a0001c0007t0021 a0002c0002t0032	a0001c0001t0001g0002 a0001c0001t0001g0193 a0001c0001t0020g0038 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0193 a0001c0001t0020g0038 a0001c0001t0020g0190 a0001c0007t0021g0168 a0002c0002t0032g0121	7	396	0.0177	210	c.-76 others(219): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF213_chr17_80255852_80403794	80315417	A A	ATGGTGGT others(203): Show ATGGTGGTCGTGGAGGTGATGGTGGTGGTGGTAATGGAGGTGATGGTGGT GGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTAGAGGTAATGGAAG TGATGGTGGAGGTACTGGAGGTGACGGTGGTGGTGGTGGAGGTGACAGTG GTGATGCTGGTGGTGGAGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGT GGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0259 a0001c0003t0001g0259	1	292	0.0034	210	c.281 others(229): Show c.2812-1765_2812-1764insTCGTGGAGGTGATGGTGGTGGTGGTA ATGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAGGTGAT GGTAGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGACGGTGGTGG TGGTGGAGGTGACAGTGGTGATGCTGGTGGTGGAGGTGGTGGAGGTACTG GAGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076577	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	210	c.-25 others(221): Show c.-2572_-2571insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2272		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076607	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA CGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	210	c.-26 others(221): Show c.-2602_-2601insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCGTAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2302		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076607	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01943.hp1 others(3): Show HG00438.hp2 HG00621.hp1 HG01943.hp1 NA18947.hp1 NA18967.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	324	0.0185	210	c.-26 others(221): Show c.-2602_-2601insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2302		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076607	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGTCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	210	c.-26 others(221): Show c.-2602_-2601insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2302		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076637	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA19088.hp2 NA18944.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	324	0.0062	210	c.-26 others(221): Show c.-2632_-2631insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2332		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076747	C C	CGGGGACT others(203): Show CGGGGACTCCGTGGGGGGAGGCTCAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0009	1	324	0.0031	210	c.-27 others(221): Show c.-2742_-2741insATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCGTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGA GTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTC CCCCAACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAG CCTGAGCCTCCCCCCACGGAGTCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2442		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077180	C C	CCGGGAGG others(203): Show CCGGGAGGCTGAGGCTATGGGGACTCCGTGCAGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGG GGACTCCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	210	c.-31 others(221): Show c.-3175_-3174insCCACGGAGTCCCCATAGCCTCAGCCACCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCTGCAC GGAGTCCCCATAGCCTCAGCCTCCCG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2875		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078175	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	210	c.-41 others(221): Show c.-4170_-4169insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3870		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078410	G G	GGGGGAGG others(203): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGG GGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGAGGCT GAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGG GGACTCCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	210	c.-44 others(221): Show c.-4405_-4404insGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAAC GGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGC CTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCA TAGCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCAC GGAGTCCCCATAGCCTCAGCCTCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4105		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078505	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CTGTGCCGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	210	c.-45 others(221): Show c.-4500_-4499insTCCCGGCACAGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4200		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078681	C C	CGGGAGGC others(203): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0051 a0001c0001t0022g0051	1	324	0.0031	210	c.-46 others(221): Show c.-4676_-4675insCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4376		chr1	TogoVar
ROBO2_chr3_77035099_77654964	77292548	C C	CCAGACAT others(203): Show CCAGACATAAAGTAGAATTGATGTTTAAATGGGTAAGCTGAGGCTAGAGC ACTAAAGACATAAAGTAAAATTGACGGGTAAACGGGTAAGCTGAGGCTAG ATCACCCCAGACACAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGC TAGATCACCCAGACATAAAGTAAAATTGATGGTTAAATGGGAAGTTGAGG CTAGAACAGTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19043.hp1 HG01106.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0037 a0001c0001t0011 a0001c0001t0037	a0001c0001t0011g0053 a0001c0001t0037g0011 a0001c0001t0011g0053 a0001c0001t0037g0011	2	160	0.0125	210	c.389 others(231): Show c.389-184866_389-184865insCAGACATAAAGTAGAATTGATGTT TAAATGGGTAAGCTGAGGCTAGAGCACTAAAGACATAAAGTAAAATTGAC GGGTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACACAAAGTAAAATT GACGGTTAAACGGGTAAGCTGAGGCTAGATCACCCAGACATAAAGTAAAA TTGATGGTTAAATGGGAAGTTGAGGCTAGAACAGTA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27						chr3	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(203): Show TACATGTTTATATATTTAGTTTATAGATAATATATATTTATATATTTAGT TTATAGATAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 NA18522.hp1 others(1): Show HG02572.hp1 HG02717.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0102 others(1): Show a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0012g0101	4	308	0.0130	210	c.-75 others(229): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTATCTATAAACTAAATATATAAAT ATATATTATCTATAAACTAAATATATAAACATGT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3AL_chr17_207389_357807	288219	T T	TCTCTCCA others(203): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCA GACCTCGCACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	133	0.0075	210	c.352 others(227): Show c.352-6366_352-6365insGGTGCGAGGTCTGACGGTGGAGAGAGAG GGAGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(203): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0071 a0003c0003t0071	a0003c0003t0071g0075 a0003c0003t0071g0075	1	366	0.0027	210	c.-15 others(221): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1081		chr19	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(203): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0087 a0087	a0087c0053 a0087c0053	a0087c0053t0002 a0087c0053t0002	a0087c0053t0002g0166 a0087c0053t0002g0166	1	350	0.0029	210	c.129 others(219): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(223): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RSRC1_chr3_158105089_158550730	158229108	G G	GTGTATAT others(203): Show GTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGT GTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACAC ATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAA ACACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAAACACAT ACGTGTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	276	0.0036	210	c.494 others(229): Show c.494+25875_494+25876insCACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACGTGTATATGTGTATATAAACACGTGTATATGTGTA TATAAACACATACGTGTATATATGTATATAAACA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RTEL1_chr20_63653312_63701245	63693522	A A	ACCTCCAC others(203): Show ACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCTCCACCACCAC CTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCACCA CCTCCACCACCTCCACCACCACCTCCACCTCCACCACCTCCACCACCACC ACCTCCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCAC CTCCACCACCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	60	0.0167	210	c.299 others(227): Show c.2992+241_2992+242insTCCACCACCTCCACCACCACCTCCACCA CCTCCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCTCCACC TCCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACCTC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCTCCACCT CCACCACCTCCACCTCCACCTCCACCACCTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693534	A A	ACCTCTAC others(203): Show ACCTCTACCACCACCTCCACCACCACCTCCACCACCTCTACCACCACCAC CACCTCCACCACCACCTCCACCACCTCCACCTCCACCACCACCTCCACCA CCACCTCCACCACCACCTCCACCACCTCCACCTCCACCACCACCTCCACC ACCACCACCTCCACCACCTCCACCTCCACCACCACCTCCACCACCTCCAC CTCCACCACGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	60	0.0167	210	c.299 others(227): Show c.2992+253_2992+254insTCTACCACCACCTCCACCACCACCTCCA CCACCTCTACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACC TCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCTCCAC CTCCACCACCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCA CCACCTCCACCACCTCCACCTCCACCACGTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693585	A A	ACCTCCAC others(203): Show ACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCAC CACCACCTCCACCACCTCCACCACCTCCACCACCACCACCACCACCACCT CCACCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACC TCCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCTC CACCTCCACCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	60	0.0167	210	c.299 others(227): Show c.2992+304_2992+305insTCCACCACCACCTCCACCACCACCACCT CCACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACC ACCACCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCAC CTCCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCACCTCCA CCTCCACCTCCACCACCTCCACCTCCACCTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693732	T T	TCCACCAC others(203): Show TCCACCACCACCACCTCCACCTCCACCTCCACCACCACCACCTCCACCAC CTCCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCA CCACCTCCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCTCC ACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTC CTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	60	0.0167	210	c.299 others(227): Show c.2992+454_2992+455insACCACCACCTCCACCTCCACCTCCACCA CCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCTCCACC ACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCACCACCACCTC CACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCTCCTCCACCTCCACCACC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGCCCAA others(203): Show GGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGCC TCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGG TCTCAGGGGCCGAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCC AGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAA TCCAGGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0009 a0006c0006t0007g0009	1	365	0.0027	210	c.18 others(221): Show c.1825_*1826insGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAA CCCCAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAG AAACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCCAG GAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCC CAGGAGAAACCCCAATCCAGGTCTCA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					1277		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGGCCAA others(203): Show GGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTC TCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGG GCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCC AGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAA TCCAGGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	365	0.0027	210	c.18 others(221): Show c.1825_*1826insGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAA ACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGG AAACCCCAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAG GAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCC CAGGAGAAACCCCAATCCAGGTCTCA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					1277		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTGTCA others(203): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	202	0.0050	210	c.-20 others(221): Show c.-2076_-2075insTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCATATATATGTGTCATATATATG		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					1649		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34849432	A A	ACTATATA others(203): Show ACTATATATAATATAGTATATATACTATATATAATATATAGTATATATAA TATATTATATATAGTATATATTATATATAGTATAATATATAATATATATT ATATATAGTATATATAATATATTATATATAGTATAATATATAATATATAG TATATATATAATATATTATATATAGTATAATATATAATATATATTATATA TATAATATATT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0057 a0001c0002t0007g0057	1	170	0.0059	210	c.613 others(229): Show c.613+10041_613+10042insAATATATTATATATATAATATATATT ATATATTATACTATATATAATATATTATATATATACTATATATTATATAT TATACTATATATAATATATTATATATACTATATATAATATATATTATATA TTATACTATATATAATATATACTATATATAATATATTATATATACTATAT ATTATATATAGTATATATACTATATTATATATAG		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8						chr21	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(203): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTATATATACGTATATATATACACATATATATGTGTATATATA CGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(35): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG01346.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG03942.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18970.hp1 NA18977.hp1 NA18986.hp1 NA19002.hp1 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	38	330	0.1152	210	c.-32 others(221): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTATATATACGTATATATATACACATAT ATATGTGTATATATACGTATATATAT		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					3050		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(203): Show CACACATATATATGTGTATATATATACGTATATATATACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTATATATACGTATATATATACACATATATATGTGTATATATA CGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	330	0.0030	210	c.-32 others(221): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ATACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTATATATACGTATATATATACACATAT ATATGTGTATATATACGTATATATAT		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					3050		chrX	TogoVar

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