Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(345): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA CACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTG TACACATACATATGTATGTATGTGTACACATACATAGGTATGTGTACACA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2310_-2309insGTATGTGTACACATACCTATGTATGTGTACACAT ACATACATATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGTGT ACACATACATACGTATGTGTACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATATGTATGCATACACATAC ATATGTATGCATACACATACATATGTATGCATACACATACATATGTATGC ATACACATACATACATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(345): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATG TATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTATGTG TACACATACATACGTATGTATGTGTACACATACGTATGTATGTGTACACA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2310_-2309insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTATACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGCATACACATAC ATATGTATGCATACACATACATATGTATGCATACACATACATATGTATGC ATACACATACATACATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(345): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTA TACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATATGTATGTATGTGTACACATACGTATGTATGTG TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG00642.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	452	0.0044	352	c.-23 others(363): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGTGT ACACATACATACGTATGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ATGTATGCATACACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(345): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTG TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTATACACATACATACATATGTATGTATACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ATGTATGCATACACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(345): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTA TACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATATGTATGTATGTGTACACATACGTATGTATGTG TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGTGT ACACATACATACGTATGTATACACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGCATACACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(345): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTA CACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATATGTATGTATGTGTACACATACGTATGTATGTG TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTGTACACATACATACGTATGTATGTATACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGCATACACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(345): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATATGTATGTATGTGTACACATA CGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATATGTATGTATGTGTACACATACGTATGTATGTG TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATATGTATGTATACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGCATACACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(345): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATA CGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATATGTATGTATGTGTACACATACATATGTATGTG TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	452	0.0022	352	c.-23 others(363): Show c.-2328_-2327insGTACACATACATATGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATATGTATGTATACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGCATACACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(345): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATA CGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATATGTATGTATGTGTACACATACATATGTATGTG TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2328_-2327insGTACACATACATATGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGCATACACATACATATGTATGCATACACATACATATGTATGCAT ACACATACATATGTATGC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(345): Show GTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTAT GCATACATATGTATGTATGTGTATACATACGTATGTATGTATGTGTATAC ATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACAT ACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATACGTAT GTATGTGTATACATACATATGTATGTATGTGTATACATACGTATGTATGT GTATACATACATACGTATGTATGTGTACACATACGTATGTATGTGTACAC ATACATATGTATGTATGTGTACACATACATATGTATGTATGTGTACACAT ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2339_-2338insTGTATGTGTACACATACATACATATGTATGTGTA CACATACATACATATGTATGTGTACACATACATACGTATGTGTACACATA CATACGTATGTATGTATACACATACATACGTATGTATACACATACATACA TATGTATGTATACACATACATACGTATGTATACACATACATACATATGTA TGTATACACATACATACGTATGTATACACATACATACATACGTATGTATA CACATACATACATACGTATGTATACACATACATACATACGTATGTATACA CATACATACATATGTATGCATACACATACATATGTATGCATACACATACA TATGTATGCATACACATA		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759526	T T	TGTGTATG others(345): Show TGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCA TACATATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATA CGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATACG TATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTACACATACGTATGTATGTGTATACATACATACGTATGTATG TGTACACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACA CATACGTATGTATGTGTACACATACATATGTATGTATGTGTACACATACA TAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	352	c.-23 others(363): Show c.-2342_-2341insCTATGTATGTGTACACATACATACATATGTATGT GTACACATACATACGTATGTGTACACATACATACGTATGTATGTGTACAC ATACATACGTATGTGTACACATACATACGTATGTATGTATACACATACAT ACGTATGTGTACACATACATACGTATGTATGTATACACATACATACGTAT GTATACACATACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATATGTATGCATACACATACATATGTATGCATACACAT ACATATGTATGCATACAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2117		chr3	TogoVar
RICTOR_chr5_38932920_39079399	39022033	A A	AAAACCAT others(345): Show AAAACCATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	338	0.0030	352	c.98- others(365): Show c.98-898_98-897insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAACAATGGTTT		RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	2/37						chr5	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(345): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTAAATATATATTAATATATATATTTAAAG ATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTAA ATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATAT ATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATATT TTTAAATATATATATATATTTATATATATATTTTTAAATATATATATATA TTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0204	1	408	0.0025	352	c.182 others(369): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTAAATATATATTAATATATATAT TTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATATAT ATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAA ATATATATATTTTTAATATATATATTTTTAAATATATATATATTTATATA TATATTTTTAAATATATATATATATTTATATATATATTTTTAAATATATA TATATATTTATATATATATTTAAA		RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24881877	T T	TATAGATA others(345): Show TATAGATATATAGATACATCTATATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA TAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATA TATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	426	0.0024	352	c.21 others(363): Show c.2151_*2152insATAGATATATAGATACATCTATATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAG		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					1957		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	426	0.0024	352	c.22 others(363): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTAGATAGATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	426	0.0024	352	c.22 others(363): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTAGATAGATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGA TATATAGATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTATATAGATATATAGATACATCT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	426	0.0024	352	c.22 others(363): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTATATAGA TATATAGATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	426	0.0024	352	c.22 others(363): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03942.hp2 HG03688.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0105 a0001c0002t0001g0066 a0001c0002t0001g0105	2	426	0.0047	352	c.22 others(363): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF32_chr7_156635774_156682130	156655787	T T	TTAGTAAT others(345): Show TTAGTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAACCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	448	0.0022	352	c.417 others(369): Show c.417+1081_417+1082insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAACCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTAGTAATTTAAT		RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
RP1_chr8_54611096_54635834	54627923	C C	CAAAGAAA others(345): Show CAAAGAAAACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18993.hp1 NA18993.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0010 a0015c0018t0001g0010	1	430	0.0023	352	c.405 others(361): Show c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAACAC	p.Tyr others(6): Show p.Tyr1352fs	RP1	ENSG00000104237.11	transcript	ENST00000220676.2	protein_coding	4/4	4172/7071	4053/6471	1351/2156		INFO_REALIGN_3_PRIME	chr8	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(345): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAG GGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGA GGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAA GGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAG GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGGAGGA GAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	396	0.0025	352	c.807 others(369): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCCCCTCCCTCCTCCTCCCTCCTC		RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8						chr6	TogoVar
SCARA5_chr8_27864883_27997673	27919030	G G	GGAGGAGG others(345): Show GGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGG AGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAA GAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAG GGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGG AGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAA AGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGG AGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGA ATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0178 a0001c0005t0004g0179 a0001c0005t0004g0178 a0001c0005t0004g0179	2	314	0.0064	352	c.916 others(369): Show c.916+2540_916+2541insTATTCCCTCCTCCTCCTCTATTCTCTCC TCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTC TCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCC CTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTC CTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCC CCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCT TCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTC CTCCTCTGCCTTCTCCTCCTCCTC		SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8						chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(345): Show TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGG TGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTG GGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	290	0.0035	352	c.464 others(365): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGTGGG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288415	T T	TCCGTCCC others(345): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	290	0.0035	352	c.166 others(369): Show c.1662+385_1662+386insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289176	T T	TCTGCTCC others(345): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTG TCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	290	0.0035	352	c.166 others(371): Show c.1663-1083_1663-1082insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289793	C C	CTCTGCTC others(345): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0018	1	290	0.0035	352	c.166 others(369): Show c.1663-478_1663-477insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCCCCGTCCCCCGTG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17						chr1	TogoVar
SCTR_chr2_119434843_119529483	119444880	C C	CACATATA others(345): Show CACATATATACGTACGAATATATATACACATATATACGTACGAATATATA TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATACGTACGAATATATATACACATATATACGTACGAATA TATATACACATATATACGTACGAATATATATACACATATATTCGTACGAA TATATATACACATATATTCGTACGAATATATATACACATATATTCGTACG AATATATATACATATATTCGTACGAATATACACATATATTCGTACGAATA TATATACATATATTCGTACGAATATATATACATATATTCGTACGAATATA TAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0275	1	290	0.0035	352	c.114 others(371): Show c.1140+1878_1140+1879insATATATATTCGTACGAATATATGTAT ATATATTCGTACGAATATATGTATATATATTCGTACGAATATATGTGTAT ATTCGTACGAATATATGTATATATATTCGTACGAATATATGTGTATATAT ATTCGTACGAATATATGTGTATATATATTCGTACGAATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGT ATATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGT GTATATATATTCGTACGTATATATGT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12						chr2	TogoVar
SDHA_chr5_213320_262082	260716	C C	CGTCACAG others(345): Show CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTC ACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 NA18612.hp2 NA18747.hp2 others(1): Show HG03710.hp2 NA18612.hp2 NA18747.hp2 NA19078.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0008 a0001c0002 a0006c0008	a0001c0002t0001 a0006c0008t0001 a0001c0002t0001 a0006c0008t0001	a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0145 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0145 a0006c0008t0001g0180	4	266	0.0150	352	c.42 others(363): Show c.4296_*4297insGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCA CAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCC TCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCCCCT		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					3635		chr5	TogoVar
SDHA_chr5_213320_262082	260716	C C	CGTCACAG others(345): Show CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTC ACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	266	0.0038	352	c.42 others(363): Show c.4296_*4297insGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCA CAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCC TCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCCCCT		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					3635		chr5	TogoVar
SGMS1_chr10_50300600_50628956	50479037	A A	AACCCTTC others(345): Show AACCCTTCTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	312	0.0032	352	c.-49 others(373): Show c.-497-12106_-497-12105insGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTT GCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCAAAGAAGGGT		SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	3/10						chr10	TogoVar
SHKBP1_chr19_40571873_40596397	40583170	T T	TAAAAAGT others(345): Show TAAAAAGTACAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	392	0.0026	352	c.961 others(367): Show c.961-215_961-214insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGTACAGAG		SHKBP1	ENSG00000160410.15	transcript	ENST00000291842.10	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(345): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATACAATTAGAAATAGAAATAGAAATAGAATAGAATAGAAT AGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	256	0.0039	352	c.165 others(369): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATACAATTAGAAATAGAAATA GAAATAGAATAGAATAGAATAGAA		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SIK3_chr11_116838402_117103428	116978998	T T	TAATTAAA others(345): Show TAATTAAAATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0276 a0001c0001t0024g0276	1	366	0.0027	352	c.274 others(371): Show c.274-21935_274-21934insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAATATTTTAATT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIK3_chr11_116838402_117103428	116982671	T T	TAAAAATG others(345): Show TAAAAATGTTCCAGCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0036 a0001c0001t0011g0036	1	366	0.0027	352	c.274 others(371): Show c.274-25608_274-25607insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCAGCTGGAACATTTTT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SLC17A5_chr6_73588379_73658992	73615791	T T	TCTCACTC others(345): Show TCTCACTCATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0106 a0001c0002t0002g0106	1	324	0.0031	352	c.979 others(367): Show c.979-345_979-344insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATAAATGAGTGAG		SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	7/10						chr6	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(345): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGT GGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG04199.hp2 HG01884.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0020 a0001c0007t0021 a0001c0007t0020 a0001c0007t0021	a0001c0007t0020g0160 a0001c0007t0021g0259 a0001c0007t0020g0160 a0001c0007t0021g0259	2	318	0.0063	352	c.949 others(367): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCC		SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5						chr21	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(345): Show CGGGGGGGGAGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGGGGGGCGGGAGGGGAAG GAGGCGGGGGGGCGGGGGGGGCGGGGGGGCGGGAGGGGGAGGACGCGGGG GGGGCGGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGTGGGTGGAGGCGGG AGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0213 a0001c0001t0013g0213	1	222	0.0045	352	c.914 others(371): Show c.914-32089_914-32088insCCTCCCGCCTCCACCCACCCCCGCCT CCTCCCCCTCCCGCCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCC CCCCCGCCCCCCCCGCCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCC CCCGCCTCCTCCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCG CCCCCACGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCTCCCGCCC CCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTGCCGCCCCCCC CGCCTCCTCCCCCTCCCTCCCCCCCC		SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9						chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(345): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGAGGGGCGGGAGGGGG AGGAGGCGGGGGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGG GGGGCGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGG AGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	222	0.0045	352	c.914 others(371): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCGCCCCCCCCGCCCCCCCGCCTCCTTCCC CTCCCGCCCCCCCGCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCC CCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCG CCCCCACGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCTCCCGCCC CCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTGCCGCCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCC		SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9						chr6	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(345): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTAT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGC CCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	410	0.0024	352	c.-26 others(371): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACC ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTATCCTTGCTTTTAT		SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(345): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGC CCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	410	0.0024	352	c.-26 others(371): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACC ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTATCCTTGCTTTTAT		SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(345): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGC CCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02451.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	410	0.0049	352	c.-26 others(371): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACC ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTATCCTTGCTTTTAT		SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC5A9_chr1_48217716_48253638	48244736	A A	ATATATAT others(345): Show ATATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTA TAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18959.hp2 NA19056.hp2 HG02129.hp2 NA18959.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0209 a0002c0002t0003g0223 a0002c0002t0003g0239 a0002c0002t0003g0209 a0002c0002t0003g0223 a0002c0002t0003g0239	3	420	0.0071	352	c.183 others(371): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATA		SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A12_chr12_185081_219157	197078	C C	CATCCATC others(345): Show CATCCATCCATCCACCATCCATCACCATCCATCCATTCCATCCATCCATC TATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCA TCCATCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC ATCCATCCATCTACCCATCCATCCATCCAACCATCCATCCACCCATCCAT CCATCCATCCATCCACTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0263 a0005c0023t0001g0263	1	420	0.0024	352	c.107 others(369): Show c.1076-197_1076-196insAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGTGGATGGATGGATGGATGGATGGGTGGATGGATGGTTGGA TGGATGGATGGGTAGATGGATGGATGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATTGATGGATGGATGGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATAGATGGATGGATGGAATGGATGGATG GTGATGGATGGTGGATGGATGGAT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15						chr12	TogoVar
SLC8A2_chr19_47423017_47476893	47451314	T T	TTTGTTTT others(345): Show TTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCGCCACCGCGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0109 a0001c0009t0003g0109	1	316	0.0032	352	c.134 others(371): Show c.1341-3084_1341-3083insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATGC AAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCTGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAACAA		SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	3/9						chr19	TogoVar
SMIM35_chr11_117998634_118091963	118003568	T T	TAAGAATA others(345): Show TAAGAATATGGCTCTATCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0058 a0001c0001t0016g0058	1	408	0.0025	352	c.28 others(363): Show c.2841_*2842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCT GGATAGAGCCATATTCTT		SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding					65		chr11	TogoVar
SMYD3_chr1_245744347_246512279	246024608	C C	CAAGTGGA others(345): Show CAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGTGGACAGCATCTAG GAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGCAAG TGGACAGCATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGGAAG GGAGATACAGGAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGTGGA CAGCATCTAGGAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGACAG ATACAGCAAGTGGACAGCATCTAGGAAGGAAGATACAGGAAGTGGACAGC ATCTAGGAAGAGAGATACAGGAAGTGGACAGCATCTAGGAAGGGAGATAC AGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(4): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG03130.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0017 a0002c0007 a0002c0008 a0002c0017	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(2): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 others(4): Show a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122	7	150	0.0467	352	c.532 others(371): Show c.532-94672_532-94671insCCTGTATCTCCCTTCCTAGATGCTGT CCACTTCCTGTATCTCTCTTCCTAGATGCTGTCCACTTCCTGTATCTTCC TTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGATGCTGTCCAC TTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTTTTCC TAGATGCTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTCC TGTATCTTCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGA TGCTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTGCTGTA TCTGTTTTCCTAGATGCTGTCCACTT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024767	G G	GAAGTGGA others(345): Show GAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGGGGACAGCATCTAG GAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGCAAG TGGACAGCATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGGAAG AGAGATACAGGAAGTGGACAGCATCTAGGAAGGGAGATACAGGAAGTGGA CAGCATCTAGGAAGACAGATACAGCAAGTGGACAGCATCTAGGAAGGAAG ATACAGGAAATGGACAGCATCTAGGAAGAGAGATACAGGAAGTGGACAGC ATCTAGGAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGAGAGATAT AGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03098.hp1 HG03195.hp2 HG00735.hp2 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0018 a0001c0002t0001g0013 a0001c0006t0001g0048 a0001c0001t0001g0018 a0001c0002t0001g0013 a0001c0006t0001g0048	3	150	0.0200	352	c.532 others(371): Show c.532-94831_532-94830insGCTATATCTCTCTTCCTAGATGCTGT CCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTCCTGTATCTCTC TTCCTAGATGCTGTCCATTTCCTGTATCTTCCTTCCTAGATGCTGTCCAC TTGCTGTATCTGTCTTCCTAGATGCTGTCCACTTCCTGTATCTCCCTTCC TAGATGCTGTCCACTTCCTGTATCTCTCTTCCTAGATGCTGTCCACTTCC TGTATCTTCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGA TGCTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCCCTTGCTGTA TCTGTTTTCCTAGATGCTGTCCACTT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SND1_chr7_127647194_128097593	127876242	T T	TAAGAATG others(345): Show TAAGAATGAGGATTACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0007 a0001c0001t0001g0008	2	262	0.0076	352	c.134 others(373): Show c.1344-11645_1344-11644insAGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAATGAGGATTAC		SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	241052694	G G	GTCAAGCA others(345): Show GTCAAGCAGGGTACATGGGACACCAGTGCCAGGCAGGTGAGAGGGCCGGG GGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGAGGGTCA GGGGGGTCAAGCAGGGTACATGGGACACCAGTGCCAGGCAGGTGAGATGG CCGGGGGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAG GGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGA TGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAG AGGGCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTG AGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0033 a0002c0008t0033	a0002c0008t0033g0287 a0002c0008t0033g0287	1	344	0.0029	352	c.208 others(369): Show c.2083+226_2083+227insTCAAGCAGGGTACATGGGACACCAGTGC CAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGACACCGGT GTCAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACATGGGACACC AGTGCCAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATGGGATA CCAGTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGAT ACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGA TACCAGTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGG GACACCGGTGTCAGGCAGGTGAGA		SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31						chr2	TogoVar

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