Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

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	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STX5_chr11_62801860_62837051	62819220	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	380	0.0026	-10	c.908 others(27): Show c.908+4936_908+4945delTTTTTTTTTT	STX5	ENSG00000162236.13	transcript	ENST00000294179.8	protein_coding	10/10			chr11	TogoVar
STX5_chr11_62801860_62837051	62830064	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02809.hp1 others(5): Show HG01243.hp1 HG02486.hp2 HG02809.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0090	8	380	0.0211	-10	c.225 others(25): Show c.225+945_225+954delTTTTTTTTTT	STX5	ENSG00000162236.13	transcript	ENST00000294179.8	protein_coding	2/10			chr11	TogoVar
STX6_chr1_180967725_181027870	181023104	CCTCTCTC others(3): Show CCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02698.hp1 HG02976.hp2 others(5): Show HG02647.hp2 HG02698.hp1 HG02976.hp2 HG03490.hp2 HG03942.hp2 NA19063.hp2 NA19072.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0018 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0018 a0001c0002t0021	a0001c0001t0001g0248 a0001c0002t0002g0215 a0001c0002t0002g0232 others(5): Show a0001c0001t0001g0248 a0001c0002t0002g0215 a0001c0002t0002g0232 a0001c0002t0002g0250 a0001c0002t0002g0254 a0001c0002t0002g0269 a0001c0002t0018g0251 a0001c0002t0021g0212	8	350	0.0229	-10	c.-44 others(19): Show c.-441_-432delAGAGAGAGAG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		235		chr1	TogoVar
STX6_chr1_180967725_181027870	181023144	TCCCCCCC others(3): Show TCCCCCCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0226 a0001c0002t0002g0226	1	350	0.0029	-10	c.-48 others(19): Show c.-481_-472delGGGGGGGGGG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		275		chr1	TogoVar
STX7_chr6_132440867_132518116	132490965	GCAGCACA others(3): Show GCAGCACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02723.hp2 HG02886.hp1 others(5): Show HG01346.hp1 HG02723.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0097 a0001c0001t0098 others(3): Show a0001c0001t0014 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0115 a0001c0001t0116	a0001c0001t0014g0041 a0001c0001t0014g0126 a0001c0001t0014g0176 others(5): Show a0001c0001t0014g0041 a0001c0001t0014g0126 a0001c0001t0014g0176 a0001c0001t0097g0287 a0001c0001t0098g0288 a0001c0001t0100g0202 a0001c0001t0115g0040 a0001c0001t0116g0046	8	380	0.0211	-10	c.85+ others(27): Show c.85+12471_85+12480delTGCTGTGCTG	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	2/9			chr6	TogoVar
STX7_chr6_132440867_132518116	132509448	TCAAAATA others(3): Show TCAAAATAACA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0006 a0001c0001t0044g0006	2	380	0.0053	-10	c.-59 others(27): Show c.-59+3549_-59+3558delTGTTATTTTG	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX7_chr6_132440867_132518116	132509452	AATAACAT others(3): Show AATAACATAAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp1 HG01517.hp1 others(33): Show HG01123.hp1 HG01175.hp1 HG01517.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18972.hp2 NA18974.hp2 NA19043.hp2 NA19058.hp2 NA19075.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0045 a0001c0001t0047 a0001c0001t0075 a0001c0001t0090 a0001c0001t0097 a0001c0001t0110 a0001c0001t0119 a0001c0001t0120	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0206 others(31): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0002g0136 a0001c0001t0005g0138 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0008g0214 a0001c0001t0009g0130 a0001c0001t0010g0208 a0001c0001t0015g0131 a0001c0001t0015g0133 a0001c0001t0015g0135 a0001c0001t0018g0137 a0001c0001t0023g0139 a0001c0001t0027g0140 a0001c0001t0033g0127 a0001c0001t0033g0128 a0001c0001t0035g0310 a0001c0001t0036g0306 a0001c0001t0037g0309 a0001c0001t0045g0345 a0001c0001t0047g0132 a0001c0001t0075g0211 a0001c0001t0090g0141 a0001c0001t0097g0287 a0001c0001t0110g0195 a0001c0001t0119g0129 a0001c0001t0120g0134	36	380	0.0947	-10	c.-59 others(27): Show c.-59+3545_-59+3554delGTTATGTTAT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX7_chr6_132440867_132518116	132509507	CATAACAT others(3): Show CATAACATAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp2 HG02109.hp2 HG00544.hp1 HG02040.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0056 a0001c0001t0095 a0001c0001t0021 a0001c0001t0056 a0001c0001t0095	a0001c0001t0021g0113 a0001c0001t0056g0111 a0001c0001t0095g0112 a0001c0001t0021g0113 a0001c0001t0056g0111 a0001c0001t0095g0112	3	380	0.0079	-10	c.-59 others(27): Show c.-59+3490_-59+3499delTTTATGTTAT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX7_chr6_132440867_132518116	132517035	CATATATA others(3): Show CATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02145.hp2 HG02273.hp1 HG00544.hp2 HG02145.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0052 a0001c0001t0002 a0001c0001t0003 a0001c0001t0052	a0001c0001t0002g0086 a0001c0001t0003g0093 a0001c0001t0052g0290 a0001c0001t0002g0086 a0001c0001t0003g0093 a0001c0001t0052g0290	3	380	0.0079	-10	c.-40 others(21): Show c.-4097_-4088delATATATATAT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding		3920		chr6	TogoVar
STX8_chr17_9245471_9580820	9253207	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG03486.hp2 others(1): Show HG02257.hp1 HG03098.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0037 a0001c0002t0001g0049 a0001c0003t0001g0033 others(1): Show a0001c0002t0001g0037 a0001c0002t0001g0049 a0001c0003t0001g0033 a0001c0003t0001g0072	4	188	0.0213	-10	c.644 others(27): Show c.644-2572_644-2563delACACACACAC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9274708	TAATAATA others(3): Show TAATAATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	188	0.0053	-10	c.644 others(29): Show c.644-24073_644-24064delGTTTATTATT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9281114	GCTCCTCC others(3): Show GCTCCTCCTGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	188	0.0053	-10	c.644 others(29): Show c.644-30479_644-30470delTCAGGAGGAG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9327173	AGAAGAAG others(3): Show AGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0071 a0001c0003t0001g0071	1	188	0.0053	-10	c.643 others(29): Show c.643+51369_643+51378delCTTCTTCTTC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9327198	AAGGAAGA others(3): Show AAGGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	188	0.0053	-10	c.643 others(29): Show c.643+51344_643+51353delCCTTCTTCCT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9369886	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp2 NA20129.hp2 HG02258.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0010 a0001c0003t0001g0004 a0001c0003t0001g0041 a0001c0002t0001g0010 a0001c0003t0001g0004 a0001c0003t0001g0041	3	188	0.0160	-10	c.643 others(27): Show c.643+8656_643+8665delTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9384639	CAAACAAA others(3): Show CAAACAAAACA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 NA18522.hp2 HG02109.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002	a0001c0002t0001g0070 a0001c0004t0001g0125 a0001c0004t0002g0111 a0001c0002t0001g0070 a0001c0004t0001g0125 a0001c0004t0002g0111	3	188	0.0160	-10	c.542 others(27): Show c.542-5996_542-5987delTGTTTTGTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9418922	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02738.hp1 HG03239.hp1 others(1): Show HG00741.hp1 HG02738.hp1 HG03239.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0148 a0001c0001t0002g0163	4	188	0.0213	-10	c.542 others(29): Show c.542-40279_542-40270delAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9428235	CTTTTGTT others(3): Show CTTTTGTTTTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG03471.hp2 others(2): Show HG02109.hp2 HG02970.hp1 HG03471.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002	a0001c0002t0001g0070 a0001c0002t0002g0062 a0001c0004t0001g0125 others(2): Show a0001c0002t0001g0070 a0001c0002t0002g0062 a0001c0004t0001g0125 a0001c0004t0001g0144 a0001c0004t0002g0111	5	188	0.0266	-10	c.542 others(29): Show c.542-49592_542-49583delCAAAACAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9460684	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02258.hp1 others(10): Show HG01243.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0126 a0001c0002t0001g0010 a0001c0002t0001g0029 others(10): Show a0001c0001t0001g0126 a0001c0002t0001g0010 a0001c0002t0001g0029 a0001c0002t0001g0051 a0001c0002t0001g0070 a0001c0002t0002g0003 a0001c0003t0001g0004 a0001c0003t0001g0032 a0001c0003t0001g0039 a0001c0003t0001g0041 a0001c0003t0001g0050 a0001c0003t0002g0005 a0001c0003t0002g0069	13	188	0.0692	-10	c.541 others(29): Show c.541+31135_541+31144delGTTTTGTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9515508	CTCTCATT others(3): Show CTCTCATTCAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	188	0.0053	-10	c.324 others(29): Show c.324-10356_324-10347delATGAATGAGA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	GGTTTTTT others(3): Show GGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	188	0.0053	-10	c.213 others(27): Show c.213-1318_213-1309delAAAAAAAAAC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546591	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	188	0.0053	-10	c.213 others(27): Show c.213-1319_213-1310delAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9556750	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp2 HG01243.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0009 a0001c0003 a0002c0009	a0001c0003t0001 a0002c0009t0001 a0001c0003t0001 a0002c0009t0001	a0001c0003t0001g0050 a0002c0009t0001g0028 a0001c0003t0001g0050 a0002c0009t0001g0028	2	188	0.0106	-10	c.212 others(25): Show c.212+674_212+683delATATATATAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9556786	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19090.hp1 HG03195.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0036 a0001c0004t0001g0089 a0001c0002t0002g0036 a0001c0004t0001g0089	2	188	0.0106	-10	c.212 others(25): Show c.212+638_212+647delGTATATATAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STXBP1_chr9_127607277_127697699	127611230	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01099.hp2 others(15): Show HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01167.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp2 HG03834.hp2 NA18959.hp1 NA18964.hp1 NA18973.hp1 NA19070.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 a0001c0001t0001 a0001c0002t0002 a0001c0002t0013	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0033 others(15): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0002t0002g0106 a0001c0002t0002g0118 a0001c0002t0013g0109	18	300	0.0600	-10	c.-11 others(21): Show c.-1173_-1164delAAAAAAAAAA	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding		1046		chr9	TogoVar
STXBP1_chr9_127607277_127697699	127624053	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG02293.hp2 others(5): Show HG00735.hp1 HG01099.hp2 HG02293.hp2 HG02486.hp2 HG03098.hp2 NA18950.hp2 NA18984.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(5): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0271	8	300	0.0267	-10	c.37+ others(27): Show c.37+11652_37+11661delATATATATAT	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP1_chr9_127607277_127697699	127650214	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02683.hp2 HG02723.hp1 others(8): Show HG01109.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03516.hp1 HG03704.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0141 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0007g0265 a0001c0001t0011g0140	11	300	0.0367	-10	c.38- others(25): Show c.38-1349_38-1340delGTGTGTGTGT	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP1_chr9_127607277_127697699	127650464	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01106.hp2 others(7): Show HG00323.hp2 HG01070.hp2 HG01106.hp2 HG02698.hp2 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0004 a0001c0001t0001g0150 a0001c0001t0001g0156 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0010g0168	10	300	0.0333	-10	c.38- others(25): Show c.38-1101_38-1092delTGTGTGTGTG	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP2_chr19_7632110_7652873	7639929	TATGTGTG others(3): Show TATGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(116): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0014 a0002c0002 a0003c0006 a0010c0013	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0008t0001 a0001c0014t0001 a0002c0002t0001 a0003c0006t0001 a0010c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 others(43): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0004g0046 a0001c0003t0001g0043 a0001c0008t0001g0002 a0001c0008t0001g0041 a0001c0008t0001g0045 a0001c0008t0001g0087 a0001c0014t0001g0062 a0002c0002t0001g0022 a0002c0002t0001g0040 a0002c0002t0001g0094 a0003c0006t0001g0110 a0010c0013t0001g0002	119	428	0.2780	-10	c.246 others(25): Show c.246+142_246+151delCATGTGTGTG	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
STXBP3_chr1_108741674_108814523	108742603	AACTGTGG others(3): Show AACTGTGGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA18522.hp2 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0153 a0001c0005t0002g0154 a0001c0005t0002g0153 a0001c0005t0002g0154	2	334	0.0060	-10	c.-41 others(21): Show c.-4134_-4125delACTGTGGCCG	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding		4070		chr1	TogoVar
STXBP3_chr1_108741674_108814523	108765846	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	334	0.0030	-10	c.438 others(27): Show c.438+5776_438+5785delTTTTTTTTTT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP4_chr17_54963765_55178632	54967034	GCGCGCGC others(3): Show GCGCGCGCGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00673.hp2 others(29): Show HG00438.hp2 HG00558.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01517.hp2 HG02055.hp2 HG02071.hp1 HG02155.hp2 HG02258.hp2 HG02300.hp2 HG02886.hp2 HG03139.hp2 HG03834.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp1 NA18970.hp1 NA18978.hp1 NA18998.hp2 NA19074.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0034 a0001c0001t0058 others(15): Show a0001c0001t0001 a0001c0001t0034 a0001c0001t0058 a0001c0001t0098 a0002c0003t0004 a0002c0003t0006 a0002c0003t0011 a0002c0003t0016 a0002c0003t0030 a0002c0003t0051 a0002c0003t0054 a0002c0003t0065 a0002c0003t0079 a0002c0003t0083 a0002c0003t0084 a0002c0003t0085 a0002c0003t0086 a0002c0003t0088	a0001c0001t0001g0160 a0001c0001t0034g0254 a0001c0001t0058g0255 others(28): Show a0001c0001t0001g0160 a0001c0001t0034g0254 a0001c0001t0058g0255 a0001c0001t0098g0257 a0002c0003t0004g0122 a0002c0003t0004g0123 a0002c0003t0004g0124 a0002c0003t0006g0003 a0002c0003t0006g0119 a0002c0003t0006g0129 a0002c0003t0006g0134 a0002c0003t0006g0135 a0002c0003t0006g0138 a0002c0003t0006g0139 a0002c0003t0006g0140 a0002c0003t0006g0145 a0002c0003t0011g0120 a0002c0003t0011g0131 a0002c0003t0011g0142 a0002c0003t0016g0130 a0002c0003t0030g0126 a0002c0003t0030g0128 a0002c0003t0051g0136 a0002c0003t0054g0141 a0002c0003t0065g0121 a0002c0003t0079g0127 a0002c0003t0083g0132 a0002c0003t0084g0137 a0002c0003t0085g0133 a0002c0003t0086g0146 a0002c0003t0088g0125	32	378	0.0847	-10	c.-19 others(21): Show c.-1937_-1928delCGCGCGCGCA	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding		1730		chr17	TogoVar
STXBP4_chr17_54963765_55178632	54967036	GCGCGCGC others(3): Show GCGCGCGCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0089 a0002c0003t0089	a0002c0003t0089g0143 a0002c0003t0089g0143	1	378	0.0027	-10	c.-19 others(21): Show c.-1935_-1926delCGCGCGCACA	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding		1728		chr17	TogoVar
STXBP4_chr17_54963765_55178632	54982594	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02922.hp2 HG02615.hp1 HG02818.hp2 HG02922.hp2	a0004 a0008 a0004 a0008	a0004c0007 a0008c0014 a0004c0007 a0008c0014	a0004c0007t0020 a0008c0014t0133 a0004c0007t0020 a0008c0014t0133	a0004c0007t0020g0009 a0004c0007t0020g0010 a0008c0014t0133g0008 a0004c0007t0020g0009 a0004c0007t0020g0010 a0008c0014t0133g0008	3	378	0.0079	-10	c.-15 others(29): Show c.-156-2997_-156-2988delTGTGTGTGTG	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	54984339	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02055.hp1 others(17): Show HG01081.hp2 HG01243.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02622.hp1 HG02723.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0015 a0003c0004t0020 others(9): Show a0003c0004t0013 a0003c0004t0015 a0003c0004t0020 a0003c0004t0021 a0003c0004t0028 a0003c0004t0031 a0003c0004t0059 a0003c0004t0066 a0003c0004t0070 a0003c0004t0076 a0003c0004t0077 a0003c0004t0131	a0003c0004t0013g0260 a0003c0004t0013g0262 a0003c0004t0013g0263 others(17): Show a0003c0004t0013g0260 a0003c0004t0013g0262 a0003c0004t0013g0263 a0003c0004t0013g0265 a0003c0004t0013g0266 a0003c0004t0015g0278 a0003c0004t0015g0279 a0003c0004t0015g0367 a0003c0004t0015g0370 a0003c0004t0020g0276 a0003c0004t0021g0331 a0003c0004t0028g0361 a0003c0004t0028g0364 a0003c0004t0031g0261 a0003c0004t0059g0365 a0003c0004t0066g0362 a0003c0004t0070g0277 a0003c0004t0076g0371 a0003c0004t0077g0363 a0003c0004t0131g0264	20	378	0.0529	-10	c.-15 others(29): Show c.-156-1263_-156-1254delTTTTTTTTTT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55066195	GTTGTTTT others(3): Show GTTGTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0079 a0001c0002t0038g0079	1	378	0.0027	-10	c.101 others(29): Show c.1012-6668_1012-6659delTGTTTTGTTT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55090845	GTGTGTGT others(3): Show GTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00621.hp1 others(107): Show HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00733.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0003c0006 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0093 a0001c0001t0114 a0001c0001t0130 a0002c0003t0051 a0002c0003t0054 a0003c0004t0013 a0003c0004t0020 a0003c0004t0021 a0003c0004t0028 a0003c0004t0031 a0003c0004t0059 a0003c0004t0066 a0003c0004t0077 a0003c0004t0131 a0003c0006t0092 a0003c0006t0094 a0007c0008t0021	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(106): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0243 a0001c0001t0002g0344 a0001c0001t0003g0211 a0001c0001t0003g0274 a0001c0001t0003g0280 a0001c0001t0003g0283 a0001c0001t0003g0289 a0001c0001t0003g0294 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0309 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0321 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0325 a0001c0001t0005g0193 a0001c0001t0006g0296 a0001c0001t0006g0306 a0001c0001t0007g0214 a0001c0001t0008g0332 a0001c0001t0008g0333 a0001c0001t0008g0340 a0001c0001t0008g0341 a0001c0001t0008g0347 a0001c0001t0008g0349 a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0008g0354 a0001c0001t0008g0359 a0001c0001t0010g0270 a0001c0001t0010g0282 a0001c0001t0010g0314 a0001c0001t0010g0320 a0001c0001t0010g0322 a0001c0001t0014g0290 a0001c0001t0014g0291 a0001c0001t0014g0292 a0001c0001t0014g0336 a0001c0001t0022g0330 a0001c0001t0022g0358 a0001c0001t0023g0342 a0001c0001t0023g0343 a0001c0001t0024g0307 a0001c0001t0025g0007 a0001c0001t0026g0311 a0001c0001t0026g0313 a0001c0001t0027g0244 a0001c0001t0027g0249 a0001c0001t0033g0356 a0001c0001t0033g0357 a0001c0001t0040g0335 a0001c0001t0041g0293 a0001c0001t0042g0355 a0001c0001t0043g0308 a0001c0001t0044g0319 a0001c0001t0045g0350 a0001c0001t0046g0281 a0001c0001t0047g0366 a0001c0001t0048g0346 a0001c0001t0049g0310 a0001c0001t0050g0360 a0001c0001t0052g0315 a0001c0001t0056g0312 a0001c0001t0060g0242 a0001c0001t0061g0239 a0001c0001t0093g0237 a0001c0001t0114g0026 a0001c0001t0130g0027 a0002c0003t0051g0136 a0002c0003t0054g0141 a0003c0004t0013g0260 a0003c0004t0013g0262 a0003c0004t0013g0263 a0003c0004t0013g0265 a0003c0004t0013g0266 a0003c0004t0020g0276 a0003c0004t0021g0331 a0003c0004t0028g0361 a0003c0004t0028g0364 a0003c0004t0031g0261 a0003c0004t0059g0365 a0003c0004t0066g0362 a0003c0004t0077g0363 a0003c0004t0131g0264 a0003c0006t0092g0113 a0003c0006t0094g0022 a0007c0008t0021g0267	110	378	0.2910	-10	c.148 others(29): Show c.1489+9672_1489+9681delCTGTGTGTGT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55113217	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0092 a0003c0006t0094 a0003c0006t0092 a0003c0006t0094	a0003c0006t0092g0113 a0003c0006t0094g0022 a0003c0006t0092g0113 a0003c0006t0094g0022	2	378	0.0053	-10	c.149 others(31): Show c.1490-28057_1490-28048delACACACACAC	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55144005	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19082.hp2 HG02300.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0006 a0001c0002t0002 a0002c0003t0006	a0001c0002t0002g0034 a0002c0003t0006g0140 a0001c0002t0002g0034 a0002c0003t0006g0140	2	378	0.0053	-10	c.154 others(29): Show c.1547+2674_1547+2683delACACACACAC	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP5L_chr3_120903205_121429761	121026033	GTTATATA others(3): Show GTTATATATAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG03453.hp1 others(2): Show HG00639.hp2 HG02809.hp1 HG03453.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0033g0009	5	290	0.0172	-10	c.288 others(29): Show c.288-15661_288-15652delTATAATTATA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121241401	ACACACAC others(3): Show ACACACACACG	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	290	0.0035	-10	c.140 others(27): Show c.1400+902_1400+911delACGCACACAC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121283885	GTGTGTGT others(3): Show GTGTGTGTGCT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02280.hp1 others(4): Show HG01109.hp1 HG02109.hp2 HG02280.hp1 HG02615.hp2 HG03195.hp1 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0008 a0001c0008t0005 a0001c0001t0002 a0001c0001t0008 a0001c0008t0005	a0001c0001t0002g0028 a0001c0001t0008g0027 a0001c0001t0008g0029 others(4): Show a0001c0001t0002g0028 a0001c0001t0008g0027 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0008t0005g0268	7	290	0.0241	-10	c.211 others(29): Show c.2110+3938_2110+3947delCTTGTGTGTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121297202	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01192.hp2 others(15): Show HG00140.hp2 HG00280.hp1 HG01192.hp2 HG01258.hp1 HG01515.hp2 HG01934.hp2 HG02451.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp2 HG03516.hp1 HG03669.hp1 HG04199.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0011 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0011 a0003c0003t0001 a0003c0003t0005 a0003c0003t0028	a0001c0001t0001g0136 a0001c0001t0001g0196 a0001c0001t0001g0219 others(15): Show a0001c0001t0001g0136 a0001c0001t0001g0196 a0001c0001t0001g0219 a0001c0001t0001g0247 a0001c0001t0011g0023 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0005g0199 a0003c0003t0028g0203	18	290	0.0621	-10	c.211 others(31): Show c.2110+17275_2110+17284delTGTGTGTGTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	290	0.0035	-10	c.211 others(29): Show c.2111-6006_2111-5997delTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121361645	ATTTCAAT others(3): Show ATTTCAATCTC	A A	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0095 a0001c0001t0014g0095	1	290	0.0035	-10	c.217 others(31): Show c.2177-17068_2177-17059delTCAATCTCTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121392770	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(36): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG01069.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp1 HG02129.hp2 HG02145.hp1 HG02683.hp2 HG02818.hp2 HG02896.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp2 NA18522.hp1 NA18978.hp2 NA18979.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19060.hp2 NA19084.hp2 NA20752.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0001 a0003c0003 a0005c0010 others(1): Show a0001c0001 a0003c0003 a0005c0010 a0009c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0025 a0003c0003t0001 a0005c0010t0006 a0009c0011t0001	a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0196 others(36): Show a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0196 a0001c0001t0003g0153 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0181 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0015g0215 a0001c0001t0015g0217 a0001c0001t0025g0231 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0205 a0003c0003t0001g0222 a0005c0010t0006g0236 a0009c0011t0001g0214	39	290	0.1345	-10	c.258 others(31): Show c.2587+11267_2587+11276delATATATATAT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121414440	TCTAGTCT others(3): Show TCTAGTCTATG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	290	0.0035	-10	c.311 others(29): Show c.3114+1119_3114+1128delTAGTCTATGC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147205371	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	350	0.0029	-10	c.151 others(25): Show c.151-582_151-573delTATATATATA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213432	ATATGTGT others(3): Show ATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01943.hp1 others(15): Show HG00438.hp2 HG00558.hp1 HG01943.hp1 HG02027.hp1 HG02056.hp2 HG02132.hp2 HG02572.hp1 NA18963.hp1 NA18969.hp2 NA18974.hp1 NA18983.hp2 NA18985.hp2 NA19012.hp1 NA19056.hp1 NA19065.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0015 a0001c0001 a0002c0002 a0006c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 a0002c0002t0002 a0006c0015t0027	a0001c0001t0001g0054 a0001c0001t0001g0205 a0001c0001t0001g0241 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0205 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0003g0021 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0040g0313 a0002c0002t0002g0056 a0002c0002t0002g0240 a0006c0015t0027g0036	18	350	0.0514	-10	c.248 others(27): Show c.248+7366_248+7375delATGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147342379	ATGAATGA others(3): Show ATGAATGATCC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01943.hp1 HG03453.hp1 HG01346.hp2 HG01943.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0198 a0001c0001t0001g0245 a0001c0001t0001g0001 a0001c0001t0001g0198 a0001c0001t0001g0245	3	350	0.0086	-10	c.225 others(29): Show c.2254+2999_2254+3008delATGATCCTGA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results