Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(227): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCA CCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGC GCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGC GCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCGCCCCCACCCC GCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0225 a0001c0003t0002g0225	1	376	0.0027	234	c.-58 others(241): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCC CCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCC CCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCC GCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626646	G G	GTCATATA others(227): Show GTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGT CATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCA TATATGTGTGTCATATACATGTCATATATGTGTCATATACATGTCATATA TGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATATGTG TGTCATATACATGTCATATATGTGTGTCATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0011 a0001c0001t0043g0011	1	202	0.0050	234	c.-21 others(245): Show c.-2178_-2177insTCATATATGTGTGTCATATACATGTCATATATGT GTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATATGTGT GTCATATACATGTCATATATGTGTGTCATATACATGTCATATATGTGTCA TATACATGTCATATATGTGTCATATACATGTCATATATGTGTGTCATATA CATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1751		chr7	TogoVar
SARDH_chr9_133658560_133743352	133668588	C C	CTCTCCCC others(227): Show CTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTCACCCTCCC TCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCATCCTCCCTCTCCCTCAC CCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTT CCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02809.hp2 others(4): Show HG01891.hp1 HG02109.hp2 HG02809.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0034 others(4): Show a0001c0001 a0002c0002 a0002c0034 a0003c0003 a0003c0013 a0003c0035 a0003c0049	a0001c0001t0003 a0002c0002t0004 a0002c0034t0003 others(4): Show a0001c0001t0003 a0002c0002t0004 a0002c0034t0003 a0003c0003t0003 a0003c0013t0004 a0003c0035t0004 a0003c0049t0003	a0001c0001t0003g0047 a0002c0002t0004g0210 a0002c0034t0003g0154 others(4): Show a0001c0001t0003g0047 a0002c0002t0004g0210 a0002c0034t0003g0154 a0003c0003t0003g0048 a0003c0013t0004g0050 a0003c0035t0004g0041 a0003c0049t0003g0170	7	262	0.0267	234	c.249 others(253): Show c.2496-1719_2496-1718insTGGAGGGTGAGGGAGAGGGAAGGTGA GGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGA GAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGG AGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGGAGAGGGAGGGC GAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTA AGGGGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668588	C C	CTCTCCCC others(227): Show CTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTCACCCTCCC TCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCATCCTCCCTCTCCCTCAC CCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCATC CTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTT CCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(6): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG00738.hp1 HG01346.hp2 HG02040.hp1 HG03239.hp2 NA18971.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0011 others(3): Show a0001c0001 a0001c0006 a0001c0011 a0002c0002 a0002c0005 a0002c0020	a0001c0001t0003 a0001c0006t0003 a0001c0011t0003 others(3): Show a0001c0001t0003 a0001c0006t0003 a0001c0011t0003 a0002c0002t0003 a0002c0005t0003 a0002c0020t0004	a0001c0001t0003g0164 a0001c0006t0003g0149 a0001c0006t0003g0153 others(6): Show a0001c0001t0003g0164 a0001c0006t0003g0149 a0001c0006t0003g0153 a0001c0011t0003g0098 a0002c0002t0003g0129 a0002c0005t0003g0092 a0002c0005t0003g0094 a0002c0005t0003g0096 a0002c0020t0004g0016	9	262	0.0344	234	c.249 others(253): Show c.2496-1719_2496-1718insTGGAGGGTGAGGGAGAGGGAAGGTGA GGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGA GAGAGGGAGGATGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGG AGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGGAGAGGGAGGGC GAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTA AGGGGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669055	C C	CTCTCCCT others(227): Show CTCTCCCTCACCTTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCT CTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCT CTTCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCC TCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCTT CCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0229 a0002c0002t0004g0229	1	262	0.0038	234	c.249 others(253): Show c.2495+1528_2495+1529insTGGAGGGTGAGGGAGAGGGAAGGTGA GGGAGAGGGAAGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGTGAG GGAGAGGGAGGGTAGGGGAGAGGGAAGGTGAGGGAGAGGGAGGGGGAGGG TAAGGGAAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGA TGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAAGGT GAGGGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCFD2_chr4_52867982_53371061	52952260	C C	CCCCCATC others(227): Show CCCCCATCCCCTCTCACACCCCCATCCCCTCTCACACCCCCATCCCCTCT CACACCCCCATCCCCTCTCACACCCCCATCCCCTCTCACCTCCCCATCCC CTCTCACAGCCCCATCCCCTCTCACCTCCCCATCCCCTCTCACAGCCCCA TCCCCTCTCACACCCCCATCCCCTCTCACACCCCCATCCCCTCTCACCTC CCCATCCCCTCTCACAGCCCCATCCCCTCTCACCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	162	0.0062	234	c.156 others(255): Show c.1562-31391_1562-31390insAGGTGAGAGGGGATGGGGCTGTGA GAGGGGATGGGGAGGTGAGAGGGGATGGGGGTGTGAGAGGGGATGGGGGT GTGAGAGGGGATGGGGCTGTGAGAGGGGATGGGGAGGTGAGAGGGGATGG GGCTGTGAGAGGGGATGGGGAGGTGAGAGGGGATGGGGGTGTGAGAGGGG ATGGGGGTGTGAGAGGGGATGGGGGTGTGAGAGGGGATGGGGGTGTGAGA GGGGATGGGG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCC others(227): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	290	0.0035	234	c.166 others(253): Show c.1663-1103_1663-1102insGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCGTGTCT others(227): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	290	0.0035	234	c.166 others(251): Show c.1663-913_1663-912insGTGTCTCTGCCCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289509	C C	CCGTGTCT others(227): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0009 a0009c0014t0001g0009	1	290	0.0035	234	c.166 others(251): Show c.1663-761_1663-760insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444506	T T	TATATATA others(227): Show TATATATATACACATATATACGTACGAATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATACG TACGAATATATATACACATATATACGTACGAATATATATACACATATATA CGTACGAATATATATACACATATATACGTACGAATATATATACACATATA TACGTACGAATATATATACACATATATACGTACGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02109.hp2 HG06807.hp1 others(1): Show HG02056.hp1 HG02109.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0066 a0001c0002t0004g0067 others(1): Show a0001c0002t0004g0029 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0002t0004g0068	4	290	0.0138	234	c.114 others(253): Show c.1140+2019_1140+2252dupTCGTACGTATATATGTGTATATATAT TCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGT ATATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444506	T T	TATATATA others(227): Show TATATATATACACATATATACGTACGTATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATACG TACGAATATATATACACATATATACGTACGAATATATATACACATATATA CGTACGAATATATATACACATATATACGTACGAATATATATACACATATA TACGTACGAATATATATACACATATATACGTACGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18747.hp2 NA18961.hp1 HG02027.hp1 NA18747.hp2 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0182 a0001c0002t0004g0021 a0001c0002t0004g0047 a0001c0002t0001g0182 a0001c0002t0004g0021 a0001c0002t0004g0047	3	290	0.0103	234	c.114 others(253): Show c.1140+2252_1140+2253insTCGTACGTATATATGTGTATATATAT TCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGTGTATATATATACGTACGTATATATGTGT ATATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(227): Show AATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGATGGTTAGGGTGGTTAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0252 a0001c0003t0004g0252	1	376	0.0027	234	c.101 others(253): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG AGAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(227): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	376	0.0053	234	c.101 others(253): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(227): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0281 a0002c0002t0002g0281	1	376	0.0027	234	c.101 others(253): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431822	A A	ATAGGGTG others(227): Show ATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGTGTGGA GAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	376	0.0027	234	c.101 others(253): Show c.1014-1136_1014-1135insCAGGGTGGACAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGTTAGTGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431859	T T	TAGGGTGG others(227): Show TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGAGAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0202 a0001c0004t0003g0202	1	376	0.0027	234	c.101 others(253): Show c.1014-1091_1014-1090insTAGGGTGGTTAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGAT AGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431859	T T	TAGGGTGG others(227): Show TAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0172 a0001c0004t0003g0172	1	376	0.0027	234	c.101 others(253): Show c.1014-1092_1014-1091insTTAGGGTGGTTAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431958	T T	TAGGGTGG others(227): Show TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGAGAGGGTGGACAGGGT GGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGAGAGGGTGGATA GGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	376	0.0027	234	c.101 others(253): Show c.1014-1001_1014-1000insCAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGA GAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGG TGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAG AGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431966	A A	ATAGGGTG others(227): Show ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0314 a0001c0001t0006g0314	1	376	0.0027	234	c.101 others(251): Show c.1014-983_1014-982insCAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGATAG GGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431967	T T	TAGGGTGG others(227): Show TAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGACAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0341 a0002c0002t0001g0341	1	376	0.0027	234	c.101 others(251): Show c.1014-992_1014-991insGAGGGTGGAGAGGGTGGAGAGGGTGGTT AGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431967	T T	TAGGGTGG others(227): Show TAGGGTGGAGAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0072 a0001c0003t0002g0072	1	376	0.0027	234	c.101 others(251): Show c.1014-992_1014-991insGAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432015	G G	GGTGGAGA others(227): Show GGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGTTAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGA TGGTTAGGGTGGACAGGGTGGACAGGGTGGAGAGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0096 a0001c0003t0002g0096	1	376	0.0027	234	c.101 others(251): Show c.1014-947_1014-946insGAGGGTGGATAGGGTGGAGAGGGTGGTT AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGACAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGAGAG AGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432102	C C	CAGGGTGG others(227): Show CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0179 a0001c0004t0003g0179	1	376	0.0027	234	c.101 others(251): Show c.1014-857_1014-856insCAGGGTGGACAGGGTGGACAGGGTGGTT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGA GGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432129	T T	TAGGGTGG others(227): Show TAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATA GGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0243 a0001c0003t0004g0243	1	376	0.0027	234	c.101 others(251): Show c.1014-831_1014-830insTTAGGGTGGATAGGGTGGAGAGGGTGGA GAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCZ_chr8_14079845_15243431	15119560	A A	AATTTTCT others(227): Show AATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp1 HG02886.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0050 a0001c0001t0021 a0001c0001t0050	a0001c0001t0021g0015 a0001c0001t0050g0045 a0001c0001t0021g0015 a0001c0001t0050g0045	2	102	0.0196	234	c.39+ others(253): Show c.39+118024_39+118025insCAGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAAAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SH3TC1_chr4_8194290_8246103	8211402	T T	TCCTCTCC others(227): Show TCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTC ACCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCT CCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTCCCTCCCTC TCCCCCTCCCGGTGTCTCCCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCC TTCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0119 a0001c0008t0002g0119	1	374	0.0027	234	c.248 others(251): Show c.248-1286_248-1285insCAGTTTCTCCCCTCTCCCTCCCTCTCCA CCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTC TCCCCTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTC CCTCCCTCTCCCCCTCCCGGTGTCTCCCCTCTCCCCCTCCTGGTTTCTCC CCTCTTCCTTCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCC CCCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIGIRR_chr11_400716_419999	401443	C C	CGGCCCCG others(227): Show CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCCGCTCACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	242	0.0041	234	c.44 others(245): Show c.4452_*4453insCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTG AGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGG GGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4272		chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704278	A A	ATATATGT others(227): Show ATATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTAC ATATGTTTTCTATGTATATATACATAGAAAATATATATACATGTTTTATA TGTATATATACATAGAAAATATATATACATGTTTTATATGTATATATATA GAAAATATATACATATGTTTTATATGTATATATACATAGAAACTGTATAT ACATAGGTTTTATATGTATATATACATAGAAACTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	300	0.0033	234	c.626 others(251): Show c.626+5744_626+5745insGTACATATGTTTTCTATGTATATATACA TAGAAAATATATGTACATATGTTTTCTATGTATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATACATAGAAAATATATATACATGTTT TATATGTATATATATAGAAAATATATACATATGTTTTATATGTATATATA CATAGAAACTGTATATACATAGGTTTTATATGTATATATACATAGAAACT GTATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC37A3_chr7_140328752_140403530	140387743	T T	TTATATAA others(227): Show TTATATAAATATATATTATATATTATATATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATATTATATATA AATATAAATATATTATATATATTATATATAATATATAAATATATTATATA TATTATATATAAATATAAATATATTATATATATTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02717.hp1 HG02970.hp1 HG01952.hp2 HG02717.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0080 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0002g0080 a0001c0001t0005g0078 a0001c0001t0005g0079	3	346	0.0087	234	c.-70 others(251): Show c.-70-5148_-70-5147insTAATATATATAATATATTTATATTTATA TATAATATATATAATATATTTATATATTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTTATATATAATATATATAATATATTTATATTATA TATAATATATATAATATATTTATATTTATATATAATATATAATATATATT TATATA	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGGGAGA others(227): Show GAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG AGAGAGGGGAGAGAGAGGAGAGAGAGGGGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0151 a0002c0001t0001g0151	1	188	0.0053	234	c.80 others(245): Show c.8049_*8050insTCTCCCTCTCCCCTCTCTCCCTCTCTCCCTCTCT CCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCT CTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCT CCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCTCCTCTCTCTCCCCTCTC TCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SLC9A3_chr5_465456_529449	507665	T T	TCCCCACC others(227): Show TCCCCACCCCACAGACACCTGAATCCTCACCCCACAGACGCCCGAATCTC CACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACC CCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCAC AGACGCCGAATCCCCACCCCACAGACACCCGAATCCTCACCCCACAGACG CCCGAATCCCCACCCCACAGACGCCCGAATCCCCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0004 a0001c0031t0004	a0001c0031t0004g0159 a0001c0031t0004g0159	1	218	0.0046	234	c.212 others(253): Show c.212-15595_212-15594insTGGGGATTCGGGCGTCTGTGGGGTGG GGATTCGGGCGTCTGTGGGGTGAGGATTCGGGTGTCTGTGGGGTGGGGAT TCGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCGGG CGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTC TGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGAGGATTCAGGTGTCTGTG GGGTGGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNED1_chr2_240993618_241100568	241011076	G G	GGGTCTCC others(227): Show GGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTC TCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG GGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCT CCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAG GTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTGCA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG02273.hp2 others(15): Show HG02015.hp1 HG02080.hp2 HG02273.hp2 HG02615.hp2 HG03139.hp2 HG03927.hp2 NA18951.hp2 NA18964.hp2 NA18970.hp2 NA18978.hp1 NA18983.hp1 NA18990.hp2 NA18999.hp1 NA19004.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0011 a0016	a0001c0001 a0001c0068 a0002c0003 others(7): Show a0001c0001 a0001c0068 a0002c0003 a0002c0008 a0002c0084 a0003c0004 a0003c0023 a0004c0026 a0011c0054 a0016c0053	a0001c0001t0001 a0001c0001t0002 a0001c0068t0018 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0068t0018 a0002c0003t0008 a0002c0008t0008 a0002c0084t0037 a0003c0004t0006 a0003c0004t0007 a0003c0004t0032 a0003c0023t0006 a0003c0023t0007 a0004c0026t0013 a0011c0054t0030 a0016c0053t0017	a0001c0001t0001g0117 a0001c0001t0001g0238 a0001c0001t0002g0129 others(15): Show a0001c0001t0001g0117 a0001c0001t0001g0238 a0001c0001t0002g0129 a0001c0068t0018g0320 a0002c0003t0008g0235 a0002c0008t0008g0255 a0002c0084t0037g0318 a0003c0004t0006g0118 a0003c0004t0006g0119 a0003c0004t0006g0120 a0003c0004t0006g0122 a0003c0004t0007g0121 a0003c0004t0032g0123 a0003c0023t0006g0237 a0003c0023t0007g0236 a0004c0026t0013g0048 a0011c0054t0030g0319 a0016c0053t0017g0239	18	344	0.0523	234	c.213 others(253): Show c.213+12073_213+12074insTCTCCTGGGGGTGGCAGGTCTCCTGG GTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTG GCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGG TCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCC TGGGGGTTGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGT CTCCTGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241011238	A A	AGGTCTCC others(227): Show AGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTGCAGGTCTCCTGGGTC TCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG GGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCT CCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTGCAG GTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01070.hp1 others(13): Show HG00099.hp2 HG00140.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01255.hp2 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG02300.hp2 HG02738.hp1 HG03669.hp2 HG04228.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0002c0008 a0002c0009 a0003c0004 a0003c0056 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0020 a0001c0006t0001 a0002c0008t0033 a0002c0009t0012 a0003c0004t0006 a0003c0056t0007 a0006c0012t0001 a0006c0012t0005	a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0002g0301 others(12): Show a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0002t0003g0302 a0001c0002t0009g0310 a0001c0002t0020g0308 a0001c0006t0001g0116 a0002c0008t0033g0287 a0002c0009t0012g0312 a0003c0004t0006g0135 a0003c0056t0007g0009 a0006c0012t0001g0001 a0006c0012t0001g0311 a0006c0012t0005g0309	16	344	0.0465	234	c.213 others(253): Show c.213+12208_213+12209insTCTCCTGGGGGTTGCAGGTCTCCTGG GTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTC CTGGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGG TCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGTCTCCTGGGGGTTG CAGGTCTCCTGGGTCTCCTGGGGGTGGCAGGTCTCCTGGGTCTCCTGGGT CTCCTGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965358	C C	CTTGGACC others(227): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	190	0.0053	234	c.72+ others(251): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1362143	G G	GGTCACCG others(227): Show GGTCACCGACGCTGAGCATTTCAGCAGAACTTCCATGAGAGTCACCAATG CTGAGCATTTCAGTAGAACTTCCATGAAAGTCACCGACGCTGAGCATTTC AGTAGAACTTCCATGAAAGTCACCGACGCTGAGCATTTCAGTAGAACTTC CATGAAGGTCACCGATGCTGAGCATTTCAGTAGAACTTCCATGAAGGTCA CCGATGCTGAGCATTTCAGTAGAACTTCCATGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG02965.hp2 HG02145.hp2 HG02922.hp2 HG02965.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0028 a0001c0001 a0001c0002 a0006c0028	a0001c0001t0001 a0001c0002t0001 a0006c0028t0001 a0001c0001t0001 a0001c0002t0001 a0006c0028t0001	a0001c0001t0001g0102 a0001c0002t0001g0109 a0006c0028t0001g0117 a0001c0001t0001g0102 a0001c0002t0001g0109 a0006c0028t0001g0117	3	190	0.0158	234	c.148 others(253): Show c.1489-5191_1489-5190insGCTGAGCATTTCAGCAGAACTTCCAT GAGAGTCACCAATGCTGAGCATTTCAGTAGAACTTCCATGAAAGTCACCG ACGCTGAGCATTTCAGTAGAACTTCCATGAAAGTCACCGACGCTGAGCAT TTCAGTAGAACTTCCATGAAGGTCACCGATGCTGAGCATTTCAGTAGAAC TTCCATGAAGGTCACCGATGCTGAGCATTTCAGTAGAACTTCCATGAGAG TCACCGAC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(227): Show ATATATATATAAATATATATATTTATATATATAAATATATATATATAAAT ATATATATTTATATATATAAATATATATATATAAATATATATATTTATAT ATAAATATATATATATAAATATATATATTTATATATATATTTATATATAA ATATATATATTTATATATATATATTTATATATATAAATATATATATTTAT ATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0349 a0001c0005t0007g0349	1	382	0.0026	234	c.159 others(251): Show c.1597-364_1597-363insAATATATATATTTATATATATAAATATA TATATATAAATATATATATTTATATATATAAATATATATATATAAATATA TATATTTATATATAAATATATATATATAAATATATATATTTATATATATA TTTATATATAAATATATATATTTATATATATATATTTATATATATAAATA TATATATTTATATATATATATTTATATATATAAATATATATATATTTATA TATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(227): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19070.hp1 NA19087.hp1 NA18995.hp1 NA19070.hp1 NA19087.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0032 a0001c0004t0079 a0001c0006t0009 a0001c0004t0032 a0001c0004t0079 a0001c0006t0009	a0001c0004t0032g0328 a0001c0004t0079g0096 a0001c0006t0009g0312 a0001c0004t0032g0328 a0001c0004t0079g0096 a0001c0006t0009g0312	3	356	0.0084	234	c.-11 others(255): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(227): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	234	c.54 others(245): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPIRE2_chr16_89823475_89876319	89852384	C C	CCCATGGC others(227): Show CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCT CCCCCCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCT GGCCCATCTTCCATCCTCCCCCCACCCCCCATATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02630.hp2 others(2): Show HG02280.hp2 HG02615.hp1 HG02630.hp2 HG03098.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0330 a0001c0001t0003g0341 others(2): Show a0001c0001t0003g0320 a0001c0001t0003g0330 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0344	5	356	0.0140	234	c.645 others(251): Show c.645+1746_645+1747insTCCCCACCCACCAGATCCCATGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTC CCCCCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCC CGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTG GCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTCC ATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852384	C C	CCCATGGC others(227): Show CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCT CCCCCCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCGGATCCCATGGCCCGTCTTCCATCCTCCCCCCACCCCCCAGATCCCCT GGCCCATCTTCCATCCTCCCCCCACCCCCCATATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0340 a0001c0001t0003g0340	1	356	0.0028	234	c.645 others(251): Show c.645+1746_645+1747insTCCCCACCCACCAGATCCCATGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTC CCCCCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCC CGGATCCCATGGCCCGTCTTCCATCCTCCCCCCACCCCCCAGATCCCCTG GCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTCC ATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852462	C C	CCCATGGC others(227): Show CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCA TCTTCCATCCTCTCCCCACCCCCCAGATTCCATGGCCCATCTTCCATCCT CCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCAT GGCCCATCTTCCATCCTCCCCCCACCCCCCATATT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0333 a0001c0001t0003g0333	1	356	0.0028	234	c.646 others(251): Show c.646-1802_646-1801insTCCCCACCCACCAGATCCCATGGCCCAT CTTCCATCCTCTCCCCACCCCCCAGATTCCATGGCCCATCTTCCATCCTC CCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCC CAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCATG GCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTCC ATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852528	C C	CACCCCCC others(227): Show CACCCCCCAGATCCCACGGCCCATCTTCCATCCTCCCCCCACCCCCCAGA TCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATTCCATGGCCC ATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCC TCCCCCCACCCCCCAGATCCCACGGCCCATCTTCCATCCTCCCCCCACCC CCCATATTCCATGGCCCGTCTTCCATCCTCCCCCA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	356	0.0028	234	c.646 others(251): Show c.646-1751_646-1750insAGATCCCACGGCCCATCTTCCATCCTCC CCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCC AGATTCCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCACGGCCCATCTTCCA TCCTCCCCCCACCCCCCATATTCCATGGCCCGTCTTCCATCCTCCCCCAA CCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(227): Show TATAAAAATATATATAAATATTATATATTTATATAAAAATATATATAAAT ATTATATATTTATATAAAAATATATATAAATATATATTTATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAATATATATTTATATAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG02280.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0015 a0001c0001t0001g0046	2	144	0.0139	234	c.190 others(253): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATAAATATATATTTATATATATTTTTATATAA ATATATAATATTTATATATATTTTTATATAAATATATAATATTTATATAT ATTTTTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SRXN1_chr20_641615_658200	641907	G G	GCGGGGGG others(227): Show GCGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	422	0.0024	234	c.68 others(245): Show c.6806_*6807insAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4707		chr20	TogoVar
SUFU_chr10_102498972_102638535	102637300	A A	ATATATAA others(227): Show ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATTATATATAATATGTATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG03098.hp2 others(2): Show HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0159	5	268	0.0187	234	c.71 others(245): Show c.7145_*7146insTATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATGTATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3766		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637340	A A	ATATATAA others(227): Show ATATATAATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATGTATATTATATATTATATAAC TATATATTATATATAATATGTATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02074.hp1 HG02155.hp2 others(11): Show HG02027.hp2 HG02074.hp1 HG02155.hp2 HG03130.hp2 HG03239.hp1 NA18954.hp1 NA18957.hp2 NA18981.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0005t0004	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0004g0114 others(11): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0125 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0020g0122 a0001c0005t0004g0165	14	268	0.0522	234	c.71 others(245): Show c.7185_*7186insTATATAATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATGTATAT TATATATTATATAACTATATATTATATATAATATGTATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3806		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637340	A A	ATATATAA others(227): Show ATATATAATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATGTATATTATAT ATTATATAACTATATATTATATATAATATGTATATTATATATTATATAAC TATATATTATATATAATATGTATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19012.hp2 NA18975.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0126 a0001c0001t0004g0108 a0001c0001t0004g0126	2	268	0.0075	234	c.71 others(245): Show c.7185_*7186insTATATAATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATGTATATTATATATTATATAACTATATATTATATATAATATGTATAT TATATATTATATAACTATATATTATATATAATATGTATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3806		chr10	TogoVar
SV2C_chr5_76078383_76338956	76172288	T T	TGGGGGGG others(227): Show TGGGGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0201 a0001c0001t0024g0201	1	234	0.0043	234	c.581 others(253): Show c.581-22620_581-22619insGGTCGGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390336	C C	CTTATATA others(227): Show CTTATATAAGTATATATATACGTATATATATACTTATATAAGTATATATA TACATATATATACGTATATATATACTTATATAAGTATATATATACTTATA TAAGTATATATATACTTATATAAGTATATATATACGTATATATACGTATA TATATACTTATATAAGTATATATATACTTATATAAGTATATATATATACT TATATATATACGTATATATATACTTATATATACGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0026 a0026	a0026c0113 a0026c0113	a0026c0113t0004 a0026c0113t0004	a0026c0113t0004g0105 a0026c0113t0004g0105	1	362	0.0028	234	c.982 others(251): Show c.9823-750_9823-749insACGTATATATAAGTATATATATACGTAT ATATATAAGTATATATATATACTTATATAAGTATATATATACTTATATAA GTATATATATACGTATATATACGTATATATATACTTATATAAGTATATAT ATACTTATATAAGTATATATATACTTATATAAGTATATATATACGTATAT ATATGTATATATATACTTATATAAGTATATATATACGTATATATATACTT ATATAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(227): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATCCATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	246	0.0041	234	c.84+ others(251): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT ATCCATATATATATATATCCATATATATATATATCCATATATATATATAT CCATATATATATATATCCATATATATATATCCATATATATATATATCCAT ATATATATATATCCATATATATATATCCATATATATATATATCCATATAT ATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results