Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RIMBP2_chr12_130391133_130721299	130641292	CATGGTGA others(87): Show CATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02622.hp1 others(5): Show HG01884.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02970.hp2 HG06807.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0019	a0001c0002 a0001c0022 a0001c0043 others(5): Show a0001c0002 a0001c0022 a0001c0043 a0002c0009 a0002c0010 a0002c0014 a0006c0018 a0019c0038	a0001c0002t0002 a0001c0022t0001 a0001c0043t0001 others(5): Show a0001c0002t0002 a0001c0022t0001 a0001c0043t0001 a0002c0009t0001 a0002c0010t0001 a0002c0014t0004 a0006c0018t0001 a0019c0038t0001	a0001c0002t0002g0060 a0001c0022t0001g0101 a0001c0043t0001g0108 others(5): Show a0001c0002t0002g0060 a0001c0022t0001g0101 a0001c0043t0001g0108 a0002c0009t0001g0147 a0002c0010t0001g0027 a0002c0014t0004g0144 a0006c0018t0001g0059 a0019c0038t0001g0090	8	180	0.0444	-94	c.-35 others(115): Show c.-351-12930_-351-12837delCCTAAATCCAGCCCGTGAAGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCC GAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF126_chr19_642526_668214	667306	CGGACCAC others(87): Show CGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGCGG ACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA18966.hp1 HG03209.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0278 a0001c0001t0001g0106 a0001c0001t0003g0278	2	434	0.0046	-94	c.-42 others(105): Show c.-4279_-4186delACCTGGGCTTGGTCCGCCTGGGACGTGGTCCGCC TGGGACGTGGTCCGCCTGGGCTTGGTCCGCCTGGGACGTGGTCCGCCTGG GACGTGGTCC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4093		chr19	TogoVar
RNFT2_chr12_116733315_116858631	116841828	TATATAAA others(87): Show TATATAAATATATATATAAATATATATAAAAATATATATATAAATATATA TATAAATATATATAAAAATATATATATATAAATATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	268	0.0037	-94	c.120 others(113): Show c.1200+5552_1200+5645delAATATATATATAAATATATATAAAAA TATATATATAAATATATATATAAATATATATAAAAATATATATATATAAA TATATATATAAAAATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RUBCN_chr3_197663867_197741904	197679488	AACTGGCT others(87): Show AACTGGCTCCAGACTGTCCTACGCTCTAACTGACAACTGGCTCCAGACTG TCCTACGCTCTGACAACTGGCTCCAGACTGTCCTATGCTCTGACC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	186	0.0054	-94	c.243 others(113): Show c.2430+1547_2430+1640delGGTCAGAGCATAGGACAGTCTGGAGC CAGTTGTCAGAGCGTAGGACAGTCTGGAGCCAGTTGTCAGTTAGAGCGTA GGACAGTCTGGAGCCAGT	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19			chr3	TogoVar
RWDD2B_chr21_28999384_29024349	29011645	TCAGCCCC others(87): Show TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	438	0.0023	-94	c.68- others(109): Show c.68-3118_68-3025delGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(87): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA19011.hp2 HG03471.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0003g0003 a0001c0001t0001g0015 a0001c0001t0003g0003	2	370	0.0054	-94	c.-47 others(105): Show c.-4725_-4632delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288261	GTCTCTGC others(87): Show GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG02015.hp2 others(1): Show HG00738.hp1 HG01496.hp1 HG02015.hp2 NA19067.hp1	a0006 a0010 a0006 a0010	a0006c0010 a0010c0019 a0006c0010 a0010c0019	a0006c0010t0007 a0010c0019t0003 a0006c0010t0007 a0010c0019t0003	a0006c0010t0007g0270 a0006c0010t0007g0274 a0006c0010t0007g0275 others(1): Show a0006c0010t0007g0270 a0006c0010t0007g0274 a0006c0010t0007g0275 a0010c0019t0003g0098	4	290	0.0138	-94	c.166 others(111): Show c.1662+228_1662+321delCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288724	TGTCTCTG others(87): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03225.hp1 HG01346.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0011 a0003c0004t0003 a0001c0001t0011 a0003c0004t0003	a0001c0001t0011g0268 a0003c0004t0003g0006 a0001c0001t0011g0268 a0003c0004t0003g0006	2	290	0.0069	-94	c.166 others(111): Show c.1662+727_1662+820delCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288941	TCCCCCGA others(87): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0270 a0006c0010t0007g0270	1	290	0.0035	-94	c.166 others(112): Show c.1662+908_1662+1001delCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288984	TGTCTCTG others(87): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0156 a0005c0011t0001g0156	1	290	0.0035	-94	c.166 others(112): Show c.1662+964_1662+1057delGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG AGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289017	CCGTGTCC others(87): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19002.hp1 HG02258.hp1 NA19002.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0001 a0004c0008t0001 a0002c0002t0001 a0004c0008t0001	a0002c0002t0001g0011 a0004c0008t0001g0239 a0002c0002t0001g0011 a0004c0008t0001g0239	2	290	0.0069	-94	c.166 others(112): Show c.1662+982_1662+1075delGTGTCCCTGCTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289243	TCCCGTGT others(87): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	290	0.0035	-94	c.166 others(111): Show c.1663-999_1663-906delCCTGCTCCGTCCCGTGTCCCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	CCCCGTGT others(87): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0016 a0016	a0016c0031 a0016c0031	a0016c0031t0001 a0016c0031t0001	a0016c0031t0001g0092 a0016c0031t0001g0092	1	290	0.0035	-94	c.166 others(111): Show c.1663-854_1663-761delGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289458	TCTCTGCC others(87): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0268 a0001c0001t0011g0268	1	290	0.0035	-94	c.166 others(111): Show c.1663-810_1663-717delCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444880	CACATATA others(87): Show CACATATATTCGTACGAATATATATACATATATTCGTACGAATATACACA TATATTCGTACGAATATATATACATATATTCGTACGAATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02559.hp2 others(4): Show HG02109.hp1 HG02486.hp1 HG02559.hp2 HG03225.hp2 HG03453.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0105 a0001c0001t0001g0148 a0001c0001t0001g0149 others(4): Show a0001c0001t0001g0105 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0235 a0001c0001t0001g0273 a0001c0001t0004g0006	7	290	0.0241	-94	c.114 others(113): Show c.1140+1785_1140+1878delATATATATTCGTACGAATATATGTAT ATATATTCGTACGAATATATGTGTATATTCGTACGAATATATGTATATAT ATTCGTACGAATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43281203	CCCTCCTG others(87): Show CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0005 a0002c0009t0005	a0002c0009t0005g0137 a0002c0009t0005g0137	1	280	0.0036	-94	c.484 others(111): Show c.484+9749_484+9842delATGGCTGAGGGAGGTGACAGGGTAGCTG AGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGG AGGAGGTGACAGGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDHA_chr5_213320_262082	258385	GCCCCCTG others(87): Show GCCCCCTGCCAGAGCATTACCGTTTGAGCTCCGCCTCCTGTCAGAGCATT ACTGTGAGCTCCATCTCTTGTCAGAGCATTACCGTGTGAGCTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0146 a0003c0004t0001g0146	1	266	0.0038	-94	c.19 others(105): Show c.1966_*2059delCCCCCTGCCAGAGCATTACCGTTTGAGCTCCGCC TCCTGTCAGAGCATTACTGTGAGCTCCATCTCTTGTCAGAGCATTACCGT GTGAGCTCCA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1304		chr5	TogoVar
SENP1_chr12_48037897_48111079	48056577	TATATTAC others(87): Show TATATTACATATATAAATATATTATTTAATATATTACATATATAAATATA TTATTTAATATATTACATATATAAATATATTATTTAATATATTAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03654.hp1 HG00741.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0285 a0001c0002t0002g0283 a0001c0001t0005g0285 a0001c0002t0002g0283	2	394	0.0051	-94	c.140 others(113): Show c.1407+7039_1407+7132delGTAATATATTAAATAATATATTTATA TATGTAATATATTAAATAATATATTTATATATGTAATATATTAAATAATA TATTTATATATGTAATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SFT2D1_chr6_166314728_166347545	166339330	TGCTTTCC others(87): Show TGCTTTCCAAGTCACTCCTCAATAGCCCCCTAGCAACAATTCCCTCTTGC CTGCACCATAATTTTCCCCTTTCCTGGACCATTCCCAATGCACAG	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0175 a0001c0002t0002g0175	1	388	0.0026	-94	c.63+ others(109): Show c.63+2995_63+3088delCTGTGCATTGGGAATGGTCCAGGAAAGGGG AAAATTATGGTGCAGGCAAGAGGGAATTGTTGCTAGGGGGCTATTGAGGA GTGACTTGGAAAGC	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding	1/7			chr6	TogoVar
SGCZ_chr8_14079845_15243431	14551537	TATATAAT others(87): Show TATATAATATATATAATATATATTATATATATAATATATATATAATATAT ATAATATATATTATATATATTATATATATACATAAAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0045 a0001c0001t0050g0045	1	102	0.0098	-94	c.234 others(111): Show c.234+3101_234+3194delTATATATATTTTATGTATATATATAATA TATATAATATATATTATATATATTATATATATATTATATATATAATATAT ATTATATATATTATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SH2D1A_chrX_124341563_124378160	124350756	ATATAATA others(87): Show ATATAATATATTATATATTGTATATAAGATATAATATATTATATATTGTA TATAAGATATAATATATTATATATTGTATATAAGATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03490.hp1 NA18947.hp1 others(2): Show HG01109.hp1 HG03490.hp1 NA18947.hp1 NA18997.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0002g0132 a0001c0001t0002g0134 others(2): Show a0001c0001t0001g0133 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0245	5	318	0.0157	-94	c.137 others(111): Show c.137+3982_137+4075delATATATTATATATTGTATATAAGATATA ATATATTATATATTGTATATAAGATATAATATATTATATATTGTATATAA GATATAATATATTATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3BP4_chr2_234947017_235060714	235038272	TAATATAT others(87): Show TAATATATATTATATATAATATATATATTATATATATATATTATATATTA TATATATATTATATATAGTATATATATTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02257.hp1 others(4): Show HG01884.hp1 HG02145.hp2 HG02257.hp1 HG02970.hp2 HG03041.hp2 HG03453.hp1 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0005 a0002c0001t0001 a0002c0001t0005	a0002c0001t0001g0033 a0002c0001t0001g0089 a0002c0001t0005g0003 others(3): Show a0002c0001t0001g0033 a0002c0001t0001g0089 a0002c0001t0005g0003 a0002c0001t0005g0034 a0002c0001t0005g0121 a0002c0001t0005g0259	7	348	0.0201	-94	c.119 others(111): Show c.119-2614_119-2521delATATATATTATATATAATATATATATTA TATATATATATTATATATTATATATATATTATATATAGTATATATATTTT ATATATATATATATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHTN1_chr10_116876477_117010187	116946585	ATATATAA others(87): Show ATATATAAATATATAAAATGATTTATATATAAATATATAAAATGATTTAT ATATAAATATATAAAATGATTTATATATAAATATATAAAATGATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 NA19030.hp1 HG02258.hp1 HG02451.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0012 a0001c0001t0019g0013 a0001c0001t0019g0014 a0001c0001t0019g0012 a0001c0001t0019g0013 a0001c0001t0019g0014	3	292	0.0103	-94	c.617 others(111): Show c.617-1661_617-1568delAATCATTTTATATATTTATATATAAATC ATTTTATATATTTATATATAAATCATTTTATATATTTATATATAAATCAT TTTATATATTTATATA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	7/16			chr10	TogoVar
SLC12A7_chr5_1045384_1117063	1046868	TATGTGAA others(87): Show TATGTGAACGAGTGGGTTAGTGTGTAAATGAGTGGGTGTGTGAATGAGTG GGTGTTTGTGTGAATGAATGGGAGAGTTAGTGTGTGAATGGGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	118	0.0085	-94	c.53 others(105): Show c.5398_*5491delTCACCCATTCACACACTAACTCTCCCATTCATTC ACACAAACACCCACTCATTCACACACCCACTCATTTACACACTAACCCAC TCGTTCACAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3515		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072296	GGGCATCA others(87): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CACTGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03491.hp1 NA19079.hp1 HG02055.hp2 HG03491.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0021 a0001c0001t0001 a0001c0006t0021	a0001c0001t0001g0011 a0001c0001t0001g0108 a0001c0006t0021g0104 a0001c0001t0001g0011 a0001c0001t0001g0108 a0001c0006t0021g0104	3	118	0.0254	-94	c.224 others(113): Show c.2241+1243_2241+1336delGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATGCCAGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGG CTGCATAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC26A3_chr7_107760469_107808223	107770149	CTTTCTTT others(87): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	436	0.0023	-94	c.206 others(113): Show c.2062+1811_2062+1904delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(87): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	436	0.0023	-94	c.206 others(113): Show c.2062+1807_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAA AAAAAAAAAAAAAAAAAA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SLC39A14_chr8_22362278_22427736	22396445	AGAGGGGG others(87): Show AGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18956.hp2 NA21309.hp2 HG02886.hp1 NA18956.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0006 a0001c0003 a0001c0007 a0002c0006	a0001c0003t0004 a0001c0007t0006 a0002c0006t0007 a0001c0003t0004 a0001c0007t0006 a0002c0006t0007	a0001c0003t0004g0321 a0001c0007t0006g0052 a0002c0006t0007g0286 a0001c0003t0004g0321 a0001c0007t0006g0052 a0002c0006t0007g0286	3	324	0.0093	-94	c.-15 others(111): Show c.-15-8247_-15-8154delGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGGGGGGAG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC3A1_chr2_44270480_44326494	44286536	GTGAGCTG others(87): Show GTGAGCTGTGCGGTGCCTGTGACGGTGAGCTGTGCGGTGCCTGTGACGGT GAGCTGTGCGGTGTCTGTGACGGTGAGCTGTGCGGTGTCTGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0056 a0002c0001t0001g0056	1	354	0.0028	-94	c.891 others(109): Show c.891+390_891+483delGGTGCCTGTGACGGTGAGCTGTGCGGTGCC TGTGACGGTGAGCTGTGCGGTGTCTGTGACGGTGAGCTGTGCGGTGTCTG TGACTGAGCTGTGC	SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A7_chr3_27367723_27489384	27388838	ACATAAGT others(87): Show ACATAAGTACCCACATAATACTCTCGTGACCTATAAAGCCTAAAATGTTT ACTATCTGGCCCTTTACAGAAAAAGTTTATTGACCTCTGCTCTAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(12): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG01070.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0130 a0001c0006t0001g0005 a0001c0006t0001g0193 others(11): Show a0001c0001t0001g0130 a0001c0006t0001g0005 a0001c0006t0001g0193 a0001c0006t0001g0207 a0001c0006t0001g0209 a0001c0006t0001g0213 a0001c0006t0001g0214 a0001c0006t0001g0219 a0001c0006t0001g0220 a0001c0006t0001g0223 a0001c0006t0001g0225 a0001c0006t0001g0230 a0001c0006t0001g0234 a0001c0006t0001g0249	15	302	0.0497	-94	c.336 others(112): Show c.3360+999_3360+1092delCTAGAGCAGAGGTCAATAAACTTTTTC TGTAAAGGGCCAGATAGTAAACATTTTAGGCTTTATAGGTCACGAGAGTA TTATGTGGGTACTTATG	SLC4A7	ENSG00000033867.18	transcript	ENST00000454389.6	protein_coding	22/25			chr3	TogoVar
SMOC1_chr14_69874416_70037366	69924990	GGAGGTAG others(87): Show GGAGGTAGGGGAGGTAGGGGAGGTAGGGGAGCTGGGGGGAGAGGAGCTAG AGAAGGAGGGGAGGTAGGGGAGGAGTGAGAGTAGGGGAGCTAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp2 others(58): Show HG00140.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01433.hp2 HG01496.hp1 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp2 NA18949.hp1 NA18956.hp1 NA18969.hp2 NA18970.hp2 NA18981.hp1 NA18984.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19068.hp1 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0002t0002 a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 a0001c0007t0003 a0006c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(58): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0249 a0001c0001t0002g0135 a0001c0001t0002g0157 a0001c0001t0002g0181 a0001c0001t0002g0207 a0001c0001t0003g0198 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0250 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0004g0261 a0001c0001t0006g0080 a0001c0001t0007g0032 a0001c0001t0007g0034 a0001c0001t0014g0173 a0001c0001t0015g0054 a0001c0001t0015g0153 a0001c0001t0016g0078 a0001c0001t0017g0176 a0001c0001t0019g0064 a0001c0001t0029g0021 a0001c0001t0030g0093 a0001c0001t0033g0043 a0001c0002t0002g0136 a0001c0003t0002g0145 a0001c0006t0001g0220 a0001c0006t0001g0233 a0001c0007t0001g0124 a0001c0007t0003g0008 a0006c0010t0001g0035	61	270	0.2259	-94	c.100 others(113): Show c.100-27126_100-27033delGTAGGGGAGCTGGGGGGAGAGGAGCT AGAGAAGGAGGGGAGGTAGGGGAGGAGTGAGAGTAGGGGAGCTAGGAGAG GTAGGGGAGGTAGGGGAG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMYD3_chr1_245744347_246512279	245992713	CCCACTTC others(87): Show CCCACTTCTAGAATGGCGGTCATGGGGCCTGGAGTGGTCATGGATCGGCC ACTTCTAGAATGGCGGTCATGGGGCCTGGAGTGGTCATGGATCGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00741.hp1 others(26): Show HG00408.hp1 HG00544.hp2 HG00741.hp1 HG01081.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01975.hp2 HG02071.hp1 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1 HG03831.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp2 NA19000.hp1 NA19088.hp1 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0004c0013t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0054 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0092 a0001c0002t0001g0016 a0001c0002t0001g0079 a0001c0006t0003g0001 a0002c0003t0001g0099 a0002c0003t0001g0101 a0002c0003t0001g0103 a0002c0003t0001g0144 a0002c0003t0001g0148 a0002c0003t0002g0102 a0002c0003t0002g0116 a0002c0003t0002g0143 a0002c0004t0001g0117 a0002c0004t0001g0121 a0002c0004t0001g0127 a0002c0005t0001g0146 a0002c0005t0002g0115 a0002c0005t0002g0118 a0004c0013t0002g0072	29	150	0.1933	-94	c.532 others(113): Show c.532-62870_532-62777delCCGATCCATGACCACTCCAGGCCCCA TGACCGCCATTCTAGAAGTGGCCGATCCATGACCACTCCAGGCCCCATGA CCGCCATTCTAGAAGTGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478546	CCTGTCCT others(87): Show CCTGTCCTCTGTCCTGGAGCTGGTACATAAGTGCTCATATATGCACACCT GTCCTCTGTCCTGGAGCTGGTACGTAAGTGCTCATATATGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp1 others(29): Show HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00733.hp2 HG00741.hp2 HG01243.hp1 HG01934.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18962.hp1 NA18984.hp2 NA19000.hp1 NA19057.hp2 NA19090.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0002 a0002c0007t0001 a0002c0008t0001 a0002c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0087 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0002g0010 a0001c0002t0002g0088 a0001c0006t0001g0035 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0002g0114 a0002c0003t0002g0131 a0002c0004t0001g0107 a0002c0004t0001g0121 a0002c0005t0002g0106 a0002c0007t0001g0120 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0008t0001g0128 a0002c0016t0001g0097	32	150	0.2133	-94	c.164 others(113): Show c.164+28414_164+28507delATGTACATATATGAGCACTTACGTAC CAGCTCCAGGACAGAGGACAGGTGTGCATATATGAGCACTTATGTACCAG CTCCAGGACAGAGGACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403229	CGGGGAGA others(87): Show CGGGGAGAAAGGTAAGGGGTTCCAGGGAGAAAGGGACAGAATTCTGGGGG GAGAAACAGAAGGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0019 a0019	a0019c0036 a0019c0036	a0019c0036t0002 a0019c0036t0002	a0019c0036t0002g0175 a0019c0036t0002g0175	1	380	0.0026	-94	c.-31 others(105): Show c.-3199_-3106delCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCC TTCTGTTTCTCCCCCCAGAATTCTGTCCCTTTCTCCCTGGAACCCCTTAC CTTTCTCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3060		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403299	GGGAGCAA others(87): Show GGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTTCCAGG GAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0018 a0018	a0018c0037 a0018c0037	a0018c0037t0002 a0018c0037t0002	a0018c0037t0002g0257 a0018c0037t0002g0257	1	380	0.0026	-94	c.-32 others(105): Show c.-3269_-3176delTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCC ACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCCGGCAAACCCCAC CCCTTGCTCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3130		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403327	GAGAAAGG others(87): Show GAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	380	0.0026	-94	c.-32 others(105): Show c.-3297_-3204delTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGAC CCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCT GTCCCTTTCT	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3158		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403346	AGGGAGCA others(87): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGG GAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00741.hp2 others(54): Show HG00099.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp2 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp2 HG02698.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18945.hp2 NA18954.hp1 NA18959.hp1 NA18966.hp1 NA18971.hp1 NA18975.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA19005.hp1 NA19066.hp1 NA19077.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0016 a0017	a0001c0001 a0002c0002 a0002c0016 others(5): Show a0001c0001 a0002c0002 a0002c0016 a0002c0040 a0002c0041 a0009c0015 a0016c0038 a0017c0039	a0001c0001t0001 a0002c0002t0002 a0002c0016t0002 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0016t0002 a0002c0040t0006 a0002c0041t0002 a0009c0015t0002 a0016c0038t0002 a0017c0039t0002	a0001c0001t0001g0005 a0002c0002t0002g0011 a0002c0002t0002g0022 others(41): Show a0001c0001t0001g0005 a0002c0002t0002g0011 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0016t0002g0235 a0002c0016t0002g0239 a0002c0040t0006g0254 a0002c0041t0002g0252 a0009c0015t0002g0052 a0016c0038t0002g0262 a0017c0039t0002g0057	57	380	0.1500	-94	c.-33 others(105): Show c.-3316_-3223delAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCC ACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACC CCTTGCTCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3177		chr9	TogoVar
SNTG2_chr2_945849_1372613	1114523	CACCCTTA others(87): Show CACCCTTACAGTCCTTTGAGAAGGATCTTCTCTACTAAGTGAGGTTTAAC CCTTAGAGTCCTTTGAGGAGGATCGTGTGTAGTAAGTGAGGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02922.hp2 others(4): Show HG01891.hp2 HG02559.hp2 HG02922.hp2 HG03710.hp1 NA19030.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0033 a0003c0007 others(3): Show a0001c0001 a0002c0033 a0003c0007 a0003c0008 a0005c0015 a0007c0016	a0001c0001t0001 a0002c0033t0001 a0003c0007t0001 others(3): Show a0001c0001t0001 a0002c0033t0001 a0003c0007t0001 a0003c0008t0001 a0005c0015t0001 a0007c0016t0001	a0001c0001t0001g0102 a0002c0033t0001g0119 a0003c0007t0001g0080 others(4): Show a0001c0001t0001g0102 a0002c0033t0001g0119 a0003c0007t0001g0080 a0003c0008t0001g0100 a0005c0015t0001g0103 a0007c0016t0001g0005 a0007c0016t0001g0135	7	190	0.0368	-94	c.325 others(113): Show c.325+16144_325+16237delCTACTAAGTGAGGTTTAACCCTTAGA GTCCTTTGAGGAGGATCGTGTGTAGTAAGTGAGGTTTAACCCTTACAGTC CTTTGAGAAGGATCTTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221327	CTGTCTCT others(87): Show CTGTCTCTCTGTTGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCT CTCTGCCCCTCCCTCTGTCTCTGTCCCTCTCAGTCTCTGGTTTTG	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	190	0.0053	-94	c.719 others(113): Show c.719+12099_719+12192delGTCTCTCTGTTGCTGTCTCTGCCTCT GTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTGTCCCT CTCAGTCTCTGGTTTTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(87): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	282	0.0036	-94	c.687 others(111): Show c.687+4171_687+4264delGTGTGTGTGTGTGTGTGTGTGTGTTTTC CCTCCTTGGTGATTCTAGATGTGAGTGAAGTGCAGCCAGTGTGTGTGTGT GTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SORCS2_chr4_7187538_7747827	7455228	CGTGTTGG others(87): Show CGTGTTGGGGTCAGGCGCTGTGTTGGGGTCAGGCACTGTGTGTTGGGGTC AGGTGCTGTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGCTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0037 a0004c0043t0037	a0004c0043t0037g0058 a0004c0043t0037g0058	1	168	0.0060	-94	c.548 others(113): Show c.548+58889_548+58982delGCTGTGTTGGGGTCAGGCACTGTGTG TTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGC TCTGTGTTGGGGTCAGGC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7577616	CATATAGC others(87): Show CATATAGCATACAGGCGAAGTCAGCTAGTGCCATGGTTTGGAGAAGTCAT ATAGCATACAGGTGAGGTCAGCTAGTGCCATGGTTTGGAGAAGTT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0036 a0001c0001t0012g0036	1	168	0.0060	-94	c.648 others(113): Show c.648+46052_648+46145delGGTCAGCTAGTGCCATGGTTTGGAGA AGTTATATAGCATACAGGCGAAGTCAGCTAGTGCCATGGTTTGGAGAAGT CATATAGCATACAGGTGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2347500	TATTCGCC others(87): Show TATTCGCCTGATTCCGTTCTCTCCCTCCACACACACACTCACGCGCTCTC ATTCGCTTGATGCCGTTCTCTCTCCACACACACTCACGCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	414	0.0024	-94	c.135 others(113): Show c.1354+2285_1354+2378delTCCCTCCACACACACACTCACGCGCT CTCATTCGCTTGATGCCGTTCTCTCTCCACACACACTCACGCACTCTCAT TCGCCTGATTCCGTTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRBD1_chr2_45383680_45616267	45414931	ACAGTGTT others(87): Show ACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATATAGTA TGTATATACACACATATAGTGTGTATATAGTATGTATATACACAC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	358	0.0028	-94	c.233 others(113): Show c.2334-1732_2334-1639delGTGTGTATATACATACTATATACACA CTATATGTGTGTATATACATACTATATACACACTATATGTGTGTGTATGT ACATACTATATAACACTG	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRGAP3_chr3_8975591_9254646	9212489	AGGCAGGC others(87): Show AGGCAGGCGGATCACGAGGTCAGGAGATCGATACCATCCTGGCCAACATG GTGAAACCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01109.hp1 others(34): Show HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0021 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0034 a0001c0001t0036 a0001c0001t0049 a0001c0002t0004 a0001c0002t0007 a0001c0003t0007 a0001c0003t0018 a0001c0004t0002 a0001c0004t0009 a0001c0004t0011 a0001c0004t0038 a0001c0007t0020 a0001c0007t0026 a0001c0009t0012 a0001c0011t0022 a0001c0021t0012 a0006c0019t0017	a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0162 others(34): Show a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0162 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0004g0077 a0001c0001t0004g0120 a0001c0001t0004g0215 a0001c0001t0005g0015 a0001c0001t0005g0033 a0001c0001t0005g0076 a0001c0001t0005g0080 a0001c0001t0007g0066 a0001c0001t0009g0087 a0001c0001t0014g0177 a0001c0001t0023g0071 a0001c0001t0025g0088 a0001c0001t0034g0065 a0001c0001t0036g0204 a0001c0001t0049g0084 a0001c0002t0004g0092 a0001c0002t0007g0075 a0001c0003t0007g0227 a0001c0003t0018g0079 a0001c0004t0002g0070 a0001c0004t0009g0103 a0001c0004t0009g0163 a0001c0004t0011g0226 a0001c0004t0038g0091 a0001c0007t0020g0074 a0001c0007t0026g0005 a0001c0009t0012g0068 a0001c0011t0022g0010 a0001c0011t0022g0181 a0001c0021t0012g0014 a0006c0019t0017g0089	37	228	0.1623	-94	c.67+ others(111): Show c.67+36302_67+36395delGCCACCACACCCAGCTAATTTTTGTATT TTTAGTAGAGGTTTCACCATGTTGGCCAGGATGGTATCGATCTCCTGACC TCGTGATCCGCCTGCC	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
STIM1_chr11_3850664_4098208	3895665	TCTTTCTT others(87): Show TCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	300	0.0033	-94	c.139 others(113): Show c.139+39260_139+39353delTCTTTCCTTCCTTCCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895673	TCCTTCCT others(87): Show TCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	300	0.0033	-94	c.139 others(113): Show c.139+39266_139+39359delCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTT CCTTCCTTCCTTCCTTCC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK26_chrX_132018302_132080943	132044702	GAGAGAGA others(87): Show GAGAGAGATCTATATATATATTTATATATATATAGAGAGATCTATATATA TATTTATATATATATAGAGAGATCTATATATATATTTATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	244	0.0041	-94	c.43- others(109): Show c.43-9921_43-9828delTCTATATATATATTTATATATATATAGAGA GATCTATATATATATTTATATATATATAGAGAGATCTATATATATATTTA TATATATAGAGAGA	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STK26_chrX_132018302_132080943	132044725	ATATATAT others(87): Show ATATATATATAGAGAGATCTATATATATATTTATATATATATAGAGAGAT CTATATATATATTTATATATATAGAGAGAGATCTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp1 NA19240.hp2 HG02970.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0001g0188 a0001c0001t0002g0211 a0001c0001t0001g0086 a0001c0001t0001g0188 a0001c0001t0002g0211	3	244	0.0123	-94	c.43- others(109): Show c.43-9889_43-9796delTCTATATATATATTTATATATATATAGAGA GATCTATATATATATTTATATATATAGAGAGAGATCTATATATATATTTA TATATATAGAGAGA	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STON1_chr2_48525154_48603513	48564405	GTCTTCTT others(87): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0293 a0001c0003t0001g0293	1	376	0.0027	-94	c.-47 others(113): Show c.-47-16112_-47-16019delTCTTCTTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)