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	113162428	C C	CGCCCCAC others(413): Show CGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCCCATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19002.hp2 NA18994.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0190 a0001c0001t0002g0191	2	378	0.0053	420	c.260 others(435): Show c.260-581_260-580insGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGCTCCCCGTCCCTGC CACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCC CTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGC TCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCC CCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCT GCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTC CCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7						chr13	TogoVar
PROZ_chr13_113153648_113177386	113162723	T T	TCCCCACA others(413): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCTCATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	378	0.0027	420	c.260 others(435): Show c.260-240_260-239insACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162723	T T	TCCCCACA others(413): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTC AGGTCCCCATCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	378	0.0027	420	c.260 others(435): Show c.260-240_260-239insACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCATCCCTGCCACCGCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCCACC others(413): Show TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	227	0.0044	420	c.23 others(431): Show c.2346_*2347insCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2066		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392594	G G	GTGGTGAT others(413): Show GTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGAT GGTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGG TGGTAATGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATG GTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGG TGGTGATGATGGTGATGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	374	0.0027	420	c.-46 others(431): Show c.-4633_-4632insTGGTGATAATGGTGATGGTGATGGTGGTGGTAAT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGGTGATAACGGTGA TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTAAT GGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGG TGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTG GTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGT GATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGG TGATGATGGTGATGGTGGTGATGATGGTGATGGTGA		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4605		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51696849	A A	ACACACAC others(413): Show ACACACACAGGTCCACACACATACACACAGGTCCACACACATACACAGGC CCACACACATACACACACAGGTCCACGCACATCCACACACACCGGTCCAC GCACATCCACACACAGGTCCACACACATACACACACACAGGTCCACACAC ATCCCCACACACACACACACACACACACACAGGTCCACACACATCCACAC ACAGGCCCACACACATCCACACACACAGGTCCACACACATCCACACACAC AGGTCCACACACATCCACATACACAGTTCCACACACAACCACACACAGGT CCACACACATCCACACACAGGTCCATGCACATACACACACAGGTCCACAC ACATACACATACACAGTTCCACACACATCCACACACAAGTCCACACACAT CCACACGCACGTCCACGCATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02559.hp1 others(10): Show HG01884.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA19043.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0009 a0018 a0022	a0001c0001 a0002c0002 a0004c0004 others(5): Show a0001c0001 a0002c0002 a0004c0004 a0006c0006 a0009c0012 a0009c0045 a0018c0049 a0022c0042	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0006c0006t0001 a0009c0012t0001 a0009c0045t0001 a0018c0049t0003 a0022c0042t0001	a0001c0001t0001g0047 a0002c0002t0001g0039 a0002c0002t0001g0040 others(10): Show a0001c0001t0001g0047 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0053 a0004c0004t0001g0037 a0006c0006t0001g0042 a0006c0006t0001g0043 a0006c0006t0001g0045 a0006c0006t0001g0046 a0009c0012t0001g0038 a0009c0045t0001g0052 a0018c0049t0003g0014 a0022c0042t0001g0044	13	122	0.1066	420	c.165 others(439): Show c.165-42090_165-42089insGATGCGTGGACGTGCGTGTGGATGTG TGTGGACTTGTGTGTGGATGTGTGTGGAACTGTGTATGTGTATGTGTGTG GACCTGTGTGTGTATGTGCATGGACCTGTGTGTGGATGTGTGTGGACCTG TGTGTGGTTGTGTGTGGAACTGTGTATGTGGATGTGTGTGGACCTGTGTG TGTGGATGTGTGTGGACCTGTGTGTGTGGATGTGTGTGGGCCTGTGTGTG GATGTGTGTGGACCTGTGTGTGTGTGTGTGTGTGTGTGTGGGGATGTGTG TGGACCTGTGTGTGTGTATGTGTGTGGACCTGTGTGTGGATGTGCGTGGA CCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGTATGTGTGTGGGCCTG TGTATGTGTGTGGACCTGTGTGTATGTGTGTGGACCTGTGTGTG		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(413): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0001 a0001c0055t0001	a0001c0055t0001g0172 a0001c0055t0001g0172	1	412	0.0024	420	c.205 others(435): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCAC CGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCT CACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCAC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0152 a0004c0006t0001g0152	1	412	0.0024	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCTCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGGTCGGCGTGG GTAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGG GTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGAGT GAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0155 a0005c0016t0001g0155	1	412	0.0024	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCCTCCTCACTCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCACCG CCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCA CTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTACCCACGCCGA CCCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(105): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG03491.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18955.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18991.hp1 NA18997.hp1 NA19002.hp2 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0008 a0010 a0013 a0015 a0016 a0024 a0025 a0026 a0028 a0029 a0043	a0001c0001 a0002c0002 a0002c0005 others(17): Show a0001c0001 a0002c0002 a0002c0005 a0002c0020 a0002c0046 a0002c0067 a0004c0008 a0005c0007 a0005c0016 a0008c0013 a0010c0012 a0013c0019 a0015c0027 a0016c0026 a0024c0057 a0025c0058 a0026c0047 a0028c0061 a0029c0056 a0043c0065	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(18): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0002c0020t0001 a0002c0046t0001 a0002c0067t0001 a0004c0008t0001 a0005c0007t0001 a0005c0007t0002 a0005c0016t0001 a0008c0013t0001 a0010c0012t0001 a0013c0019t0001 a0015c0027t0001 a0016c0026t0001 a0024c0057t0001 a0025c0058t0001 a0026c0047t0001 a0028c0061t0001 a0029c0056t0001 a0043c0065t0001	a0001c0001t0001g0122 a0002c0002t0001g0001 a0002c0002t0001g0002 others(42): Show a0001c0001t0001g0122 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0213 a0002c0005t0001g0037 a0002c0005t0001g0140 a0002c0005t0001g0142 a0002c0020t0001g0135 a0002c0020t0001g0189 a0002c0020t0001g0190 a0002c0046t0001g0137 a0002c0067t0001g0240 a0004c0008t0001g0017 a0004c0008t0001g0025 a0004c0008t0001g0198 a0005c0007t0001g0048 a0005c0007t0001g0218 a0005c0007t0001g0222 a0005c0007t0002g0054 a0005c0016t0001g0157 a0005c0016t0001g0158 a0008c0013t0001g0018 a0008c0013t0001g0216 a0010c0012t0001g0044 a0010c0012t0001g0199 a0010c0012t0001g0200 a0013c0019t0001g0042 a0013c0019t0001g0193 a0015c0027t0001g0214 a0015c0027t0001g0215 a0016c0026t0001g0211 a0024c0057t0001g0191 a0025c0058t0001g0194 a0026c0047t0001g0138 a0028c0061t0001g0201 a0029c0056t0001g0188 a0043c0065t0001g0234	108	412	0.2621	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp1 HG03209.hp2 HG02258.hp2 HG03041.hp1 HG03209.hp2	a0004 a0004	a0004c0006 a0004c0050 a0004c0006 a0004c0050	a0004c0006t0001 a0004c0050t0001 a0004c0006t0001 a0004c0050t0001	a0004c0006t0001g0038 a0004c0050t0001g0151 a0004c0006t0001g0038 a0004c0050t0001g0151	3	412	0.0073	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCTCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0220 a0005c0007t0001g0220	1	412	0.0024	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0212 a0016c0026t0001g0212	1	412	0.0024	420	c.205 others(435): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCTCTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(413): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0023 a0023	a0023c0051 a0023c0051	a0023c0051t0001 a0023c0051t0001	a0023c0051t0001g0148 a0023c0051t0001g0148	1	412	0.0024	420	c.205 others(435): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCT CCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCAC GCCGACCCCTCCTCACTCCCCACTGCCCACGCTGACCCCT		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(413): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA20805.hp1 HG04228.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0094 a0001c0004t0001g0167 a0001c0001t0001g0094 a0001c0004t0001g0167	2	412	0.0049	420	c.205 others(432): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0152 a0001c0001t0005g0152	1	318	0.0031	420	c.36 others(431): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGAGGAGGGGA GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	318	0.0031	420	c.36 others(431): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGA GGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	318	0.0031	420	c.36 others(431): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGA GGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	318	0.0031	420	c.36 others(431): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGA GGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGGGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	420	c.36 others(431): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGAGGGAGGAGGGG AGGGGGGAGGGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGA GGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(413): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGGAGGGGAAGGGGAGGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGG GGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	318	0.0031	420	c.36 others(431): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGAAGGG GAGGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(413): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	276	0.0036	420	c.132 others(437): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAGGAA others(413): Show AAAAGGAAAAGAAAAGGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	276	0.0036	420	c.132 others(437): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTCCTTTTCTTTTCCTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RIMBP2_chr12_130391133_130721299	130646173	G G	GCCTCTCC others(413): Show GCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGC CTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTGCCT CTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCT CCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACC ACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCTCCAC CTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCT CCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCC CTCACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCT CACCACCTCCCTCTCCACCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	180	0.0056	420	c.-35 others(441): Show c.-351-17718_-351-17717insGAGGTGGAGAGGGAGGTGGTGAGG GAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGA GGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGG TGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTG GAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGT GAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGA GGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGG CAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGCA GGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646202	T T	TCCACCTC others(413): Show TCCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCAC CACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACC TCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTC CCTCTCCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCC TCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTC ACCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCACCACCTCCCTCAC CACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCA CCTCCCTCTCCACCTCCCTCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0140 a0001c0020t0001g0140	1	180	0.0056	420	c.-35 others(441): Show c.-351-17747_-351-17746insTGAGGGAGGTGGAGAGGGAGGTGG AGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAG GGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGG AGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAG GTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGT GGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGCGAGGGAGGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(413): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATATATATATTTT TAAATATGTATATTTAAATTATATAATTTAAATATATATTAATATACATA TTTTAATATATATAATTTAATATATATCTTTAAATATATATATATTTAAA GATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTA AATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATA TATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATAT TTTTATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0160 a0001c0002t0003g0160	1	408	0.0025	420	c.182 others(437): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTT AAATATATATTAATATACATATTTTAATATATATAATTTAATATATATCT TTAAATATATATATATTTAAAGATATATATTAAATTATATATATTAAAAT ATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAA AAATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATA TATATATATTTATATATATATTTTTATATATATATTTATATATATATTTT TATATATATATATTTATATATATATTTTTAAATATATATATA		RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1						chr8	TogoVar
RNF213_chr17_80255852_80403794	80274638	T T	TGAGTGGG others(413): Show TGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGG GGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGTCTGGGGGGTG AGTGGGGTGAGTGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0096 a0096	a0096c0107 a0096c0107	a0096c0107t0039 a0096c0107t0039	a0096c0107t0039g0081 a0096c0107t0039g0081	1	292	0.0034	420	c.261 others(437): Show c.261+1235_261+1236insAGTGGGGTGAGTGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAA TGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGG GGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTG AGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1077811	G G	GGGGAGGC others(413): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 NA19074.hp1 HG01346.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	324	0.0062	420	c.-38 others(431): Show c.-3806_-3805insGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3506		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078349	G G	GCCGGGAG others(413): Show GCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGT GGCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGTGGCTATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGT GCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0009	1	324	0.0031	420	c.-43 others(431): Show c.-4344_-4343insAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCC TCCCGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCAT AGCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCAT AGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACG GAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC TCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4044		chr1	TogoVar
RPH3AL_chr17_207389_357807	272932	A A	ATCAGGGA others(413): Show ATCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAG GGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCAGGGTGA GACCCCGGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCGACGTCA GGGAGAGACCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCG ACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACC CCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCAGGGT GAGACCCCGGCGAGGGTGACT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0125 a0002c0005t0023g0125	1	133	0.0075	420	c.438 others(437): Show c.438+8835_438+8836insAGTCACCCTCGCCGGGGTCTCACCCTGA AGTCACTCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCT CCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGG GTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTC GCTGGGGTCTCACCCTGACGTAGCCCTTGCTGGGGTCTCTCCCTGACGTC GCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCT GAAGTCACTCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCT CTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTG GGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	272967	T T	TGAGACCC others(413): Show TGAGACCCCAGCGAGGGTGACATCAGGAAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGG GTGACTTCAGGGTGAGACCCCGGCGAGGGCGACGTCAGGGAGAGACCCCA GCAAGGGCTACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCGAGGGCGACTTCAGGGAGAGACCCCAGCGAGGGCGACGTCAG GGAGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGTGA CGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCGA GGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGCGACGTCAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	133	0.0075	420	c.438 others(437): Show c.438+8800_438+8801insTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGACGTCACCCT CGCTGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGAAGTCGCCCTCGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTAGCCCTTGCTGGGGTC TCTCCCTGACGTCGCCCTCGCCGGGGTCTCACCCTGAAGTCACCCGCGCT GGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCC CTCGCTGGGGTCTCTTCCTGATGTCACCCTCGCTGGGGTCTC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	273611	A A	AGAGACCC others(413): Show AGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACT TCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCA GCGAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAG GGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGA CGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAA GGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCAAGGGTGACTTCAGGGT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	133	0.0075	420	c.438 others(437): Show c.438+8156_438+8157insACCCTGAAGTCACCCTTGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGG GGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGT CACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCACCCTCGCTGGGGTCTCTCCCTGACATCACCCTCGCTGGGGTC TCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACC CTCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGGTCTC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(413): Show ATGATGGTGATGGTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGT CGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTAGAGATGATGGTGATGGTGATGATGGAGGTGATGGTGGTGATGGTG ATGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATGGT GATGATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGG TGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATAGTGATAGTG GTGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGAT GGTAGAGATGGTGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAG AGATGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(31): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG01070.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01258.hp1 HG01361.hp2 HG01934.hp2 HG02015.hp2 HG02129.hp2 HG02258.hp1 HG02486.hp1 HG02683.hp1 HG02895.hp1 HG02976.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 NA18906.hp1 NA18944.hp1 NA18963.hp1 NA18980.hp1 NA19009.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19082.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0026 a0001c0027 a0001c0033 a0001c0039 a0001c0044 a0001c0049 a0001c0055 a0001c0060 a0001c0076 a0001c0078 a0001c0080 a0003c0069	a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 others(30): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0003t0014 a0001c0003t0038 a0001c0004t0014 a0001c0006t0022 a0001c0008t0021 a0001c0010t0056 a0001c0010t0071 a0001c0013t0021 a0001c0015t0046 a0001c0017t0015 a0001c0019t0042 a0001c0020t0048 a0001c0021t0018 a0001c0021t0079 a0001c0022t0022 a0001c0024t0037 a0001c0026t0043 a0001c0027t0016 a0001c0027t0096 a0001c0033t0023 a0001c0039t0061 a0001c0044t0045 a0001c0049t0011 a0001c0055t0049 a0001c0060t0001 a0001c0076t0011 a0001c0078t0041 a0001c0080t0011 a0003c0069t0044	a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 others(31): Show a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0006t0022g0090 a0001c0008t0021g0091 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0013t0021g0093 a0001c0015t0046g0079 a0001c0017t0015g0082 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0022t0022g0095 a0001c0024t0037g0092 a0001c0026t0043g0096 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0033t0023g0075 a0001c0039t0061g0177 a0001c0044t0045g0080 a0001c0049t0011g0078 a0001c0055t0049g0083 a0001c0060t0001g0130 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0080t0011g0077 a0003c0069t0044g0099	34	196	0.1735	420	c.349 others(437): Show c.349-7103_349-7102insATGGTGATGGTAGAGATGGTGATGGTGG TGATGATGATGGTCGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGATGATGGAGGTGAT GGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGG TAGAGATGATGGTGATGATGGAGGTGGTGGTGATGGTGATGGTGGTGGTG ATGGTGATGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGAT GATAGTGATAGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGA TGGTGATGGTGATGGTAGAGATGGTGGTGGTGGTGGTGGTGATGATGGTG ACGGTGATGGTAGAGATGATGGTGGTGGTGGTGGTGATGGTG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(413): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01993.hp2 HG01993.hp2	a0064 a0064	a0064c0102 a0064c0102	a0064c0102t0001 a0064c0102t0001	a0064c0102t0001g0100 a0064c0102t0001g0100	1	350	0.0029	420	c.129 others(429): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(433): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(413): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0223 a0001c0001t0024g0223	1	276	0.0036	420	c.494 others(439): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(413): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG03041.hp2 others(2): Show HG02109.hp2 HG02257.hp1 HG03041.hp2 NA19004.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0001 a0001c0001t0007 a0001c0001t0015	a0001c0001t0001g0084 a0001c0001t0001g0167 a0001c0001t0007g0179 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0167 a0001c0001t0007g0179 a0001c0001t0015g0062 a0001c0001t0015g0063	5	276	0.0181	420	c.494 others(439): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(413): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTACAATATATAATATATCTATAATATATATATTATA TCTATAATATATAATATATCTATAATATATAATATATCTATAATATATAA TATATCTATAATATATATATTATAGATATAATATATAATATATTATATAT AATATATAATATATTATATCTATAATATATAATATATTATATCTATAATA TATTATATGTAATATATATATGTTATATCTATAATATATATTATATCTAT AATATATAATATATTATATCTATAATATATAATATATTATATCTATAAAT ATAATATATTATATCTATAATATATAATATATTATATCTATAATATATAA TATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0171 a0007c0009t0001g0171	1	172	0.0058	420	c.242 others(437): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATTATATTTATA GATATAATATATTATATATTATAGATATAATATATTATATATTATAGATA TAATATATATTATAGATATAACATATATATATTACATATAATATATTATA GATATAATATATTATATATTATAGATATAATATATTATATATTATATATA ATATATTATATATTATATCTATAATATATATATTATAGATATATTATATA TTATAGATATATTATATATTATAGATATATTATATATTATAGATATAATA TATATATTATAGATATATTATATATTGTAGATATAATATATATATTATAG ATATATTATATATTATAGATATAATATATATATTATAGATAT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(413): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATATCTATAATAGATATATTATA TCTATAATATATAATATATCTATAATAGATATATTATATCTATAATATAT AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATATATTATATCTATAATATATAATATATAATATATAATATATCTA TAATATATAATATATCTATAATATATAATATATTATATATAATATATAAT ATATTATATCTATAATATATAATATATTATATCTATAATATATTATATGT AATATATATATGTTATATCTATAATATATATTATATCTATAATATATAAT ATATTATATCTATAATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0107 a0005c0006t0001g0107	1	172	0.0058	420	c.242 others(437): Show c.242-4111_242-4110insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATATTATAGATATAACATATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATTATAT ATTATATATAATATATTATATATTATAGATATATTATATATTATAGATAT ATTATATATTATATATTATATATTATAGATATAATATATATATTATAGAT ATATTATATATTATAGATATAATATATATATTATAGATATATTATATATT ATAGATATAATATATCTATTATAGATATATTATATATTATAGATATAATA TATCTATTATAGATATATTATATATTATAGATATAATATATATATTATAG ATATATTATATATTATAGATATAATATATATATTATAGATAT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
SAMD11_chr1_918923_949574	934209	A A	AGGCGGCT others(413): Show AGGCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	434	0.0023	420	c.843 others(437): Show c.843-1556_843-1555insGCGTTACTGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCT		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934749	G G	GCGTTACA others(413): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCTGCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0213 a0003c0006t0003g0213	1	434	0.0023	420	c.843 others(437): Show c.843-1009_843-1008insGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCG TTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGG GGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTC CGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGC		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934797	A A	AGGCGGCT others(413): Show AGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGG CGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCC GTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	434	0.0023	420	c.843 others(435): Show c.843-968_843-967insCCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGC TGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTG GGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCT		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934904	G G	GGGGGGGG others(413): Show GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGTGCAGGGGAGGCG GCTGCGTTACAGGTGTGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGTGCAGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGTGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTC CGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGTGCAGGGGAGG CGGCTGCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	434	0.0023	420	c.843 others(435): Show c.843-864_843-863insGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGTGCAGGGGAGGCGGCTGCGTTACAGGTGTGCAGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGTGCAGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGTGCAGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACA GGTGTGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(413): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTTCTCCCTTC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTC TTTACTTCCTACCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTA CTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCTT CCCTCCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCT CCCTCCCTCCTTTACTTGCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18906.hp1 NA19043.hp2 HG02630.hp2 NA18906.hp1 NA19043.hp2	a0002 a0028 a0032 a0002 a0028 a0032	a0002c0013 a0028c0052 a0032c0075 a0002c0013 a0028c0052 a0032c0075	a0002c0013t0015 a0028c0052t0032 a0032c0075t0008 a0002c0013t0015 a0028c0052t0032 a0032c0075t0008	a0002c0013t0015g0025 a0028c0052t0032g0107 a0032c0075t0008g0016 a0002c0013t0015g0025 a0028c0052t0032g0107 a0032c0075t0008g0016	3	116	0.0259	420	c.332 others(439): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTTCTCCCTTCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTT TACTTCCTACCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCTTCC CTCCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTGCTCCCTCCCTCCCTTCTTTACTTCCTCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(413): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATTC CCTATATATATATTCCCTATATATATATTCCCTATATATATATTCCCTAT ATATATATTCCCTATATATATATTCCATATATATATATTCCATATATATA TTCCATATATATATATTCCATATATATATATTTCATATATATATATTCCA TATATATATTCCATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATATATATATTCCA TATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	324	0.0031	420	c.115 others(437): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATAGGGAATATATATATAGGGAATATATATATAGGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(413): Show ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATGTACATATGT ATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCAT ATATGTACATATGTACATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	182	0.0055	420	c.173 others(439): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(413): Show ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT GTACATATGTATATATGCATATATGTACATATGTACATATGTACATATGT ATATATGCATATATGTACATATGTACATATGTACATATGTATATATACAT ATATGTACATATGTACATATG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0124 a0001c0001t0038g0124	1	182	0.0055	420	c.173 others(439): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATACATATATGTACATATGTACATATGTA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(413): Show ATATGTACATATGTACATATATACATATGTATATATACGTATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT GTACATATGTATATATACATATATGTACATATGTACATATGTACATATGT ATATATACATATATGTACATATGTACATATGTACATATGTATATATACAT ATATGTACATATGTACATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	182	0.0055	420	c.173 others(439): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACGTATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATACATATATGTACA TATGTACATATGTACATATGTATATATACATATATGTACATATGTACATA TGTACATATGTATATATACATATATGTACATATGTACATATGTA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(413): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT GTACATATGTATATATGCATATATGTACATATGTACATATGTACATATGT ATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCAT ATATGTACATATGTACATATG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	182	0.0055	420	c.173 others(439): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(413): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCAT ATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACAT ATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATAT GTACATATGTATATATGCATATATGTACATATGTACATATGTACATATGT ATATATGCATATATGTACATATGTACATATGTACATATGTATATATACAT ATATGTACATATGTACATATG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0144 a0001c0001t0036g0144	1	182	0.0055	420	c.173 others(439): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATACATATATGTACATATGTACATATGTA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(413): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01934.hp1 HG02074.hp2 others(8): Show HG00609.hp2 HG01934.hp1 HG02074.hp2 HG02735.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 NA18972.hp2 NA18980.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0049 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0064 a0001c0001t0065	a0001c0001t0003g0103 a0001c0001t0004g0081 a0001c0001t0004g0095 others(8): Show a0001c0001t0003g0103 a0001c0001t0004g0081 a0001c0001t0004g0095 a0001c0001t0007g0090 a0001c0001t0011g0086 a0001c0001t0049g0062 a0001c0001t0056g0079 a0001c0001t0057g0080 a0001c0001t0060g0070 a0001c0001t0064g0060 a0001c0001t0065g0061	11	182	0.0604	420	c.173 others(439): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)