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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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
SPOCK3_chr4_166728384_167239494	167223110	TAATATAT others(31): Show TAATATATATTTTATATATGAATATATATTTTATATATG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp2 NA19030.hp1 HG02970.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0142 a0001c0001t0002g0141 a0001c0001t0004g0037 a0001c0001t0001g0142 a0001c0001t0002g0141 a0001c0001t0004g0037	3	144	0.0208	-38	c.189 others(57): Show c.189+10837_189+10874delCATATATAAAATATATATTCATATAT AAAATATATATT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2345530	TCCCCCTC others(31): Show TCCCCCTCTTTCTCATTCTCCCCGGGCCTGTGCCTGCAA	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	414	0.0024	-38	c.135 others(55): Show c.1354+219_1354+256delCCCCGGGCCTGTGCCTGCAACCCCCTCT TTCTCATTCT	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2345725	GTCTTTCT others(31): Show GTCTTTCTCATTCTCCCTGGGCCTGTGCCTCCGTCCCCC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	414	0.0024	-38	c.135 others(55): Show c.1354+418_1354+455delTGTGCCTCCGTCCCCCTCTTTCTCATTC TCCCTGGGCC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRED2_chr2_65305851_65437599	65338215	GTCTCCCT others(31): Show GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02273.hp1 HG01257.hp2 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0161 a0001c0002t0001g0142 a0001c0002t0001g0161	2	276	0.0073	-38	c.205 others(55): Show c.205-3480_205-3443delGGGAGACGGGAGAGGGAGACGGGAGAGG GAGAGGGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65338234	GTCTCCCT others(31): Show GTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(107): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0007t0001 a0002c0008t0001	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(107): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0003g0123 a0001c0001t0003g0165 a0001c0001t0003g0171 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0193 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0259 a0001c0001t0006g0210 a0001c0001t0007g0261 a0001c0001t0012g0008 a0001c0001t0014g0208 a0001c0001t0022g0194 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0262 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0004g0021 a0001c0002t0004g0061 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0013g0178 a0001c0002t0015g0117 a0001c0002t0016g0108 a0001c0002t0017g0094 a0001c0002t0018g0158 a0001c0007t0001g0201 a0002c0008t0001g0132	110	276	0.3986	-38	c.205 others(55): Show c.205-3499_205-3462delGGGAGACGGGAGAGGGAGAGGGAGACGG GAGAGGGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRN_chr10_133415666_133429625	133427954	AAGCCATT others(31): Show AAGCCATTCACCACAGTCCGCAATGTAAAAGACCTCTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0044 a0002c0002t0018g0044	1	474	0.0021	-38	c.-35 others(49): Show c.-3536_-3499delATAGAGGTCTTTTACATTGCGGACTGTGGTGAAT GGCT	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding		3330		chr10	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02486.hp1 others(5): Show HG01515.hp1 HG01517.hp2 HG02486.hp1 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03704.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0019 a0001c0001t0042 a0001c0001t0070 a0001c0001t0071	a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0006g0207 others(5): Show a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0006g0207 a0001c0001t0015g0096 a0001c0001t0019g0208 a0001c0001t0042g0070 a0001c0001t0070g0038 a0001c0001t0071g0088	8	231	0.0346	-38	c.-28 others(59): Show c.-282+25685_-282+25722delATATATATATATATATATATATAT ATATATATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SQLE_chr8_124993505_125027283	125025532	AAAAAAAT others(31): Show AAAAAAATCAGCAGGGCGTGGTGGTACGCATCTGTAATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	-38	c.35 others(49): Show c.3588_*3625delAAAAAATCAGCAGGGCGTGGTGGTACGCATCTGT AATC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3250		chr8	TogoVar
SRGAP1_chr12_63839700_64167217	63917754	ACCTGCTT others(31): Show ACCTGCTTTCTGTAATTCTTGTACACACCAATTTCCCAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp1 HG03579.hp1 HG02647.hp1 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0082 a0001c0002t0005 a0001c0003t0001 a0001c0001t0082 a0001c0002t0005 a0001c0003t0001	a0001c0001t0082g0085 a0001c0002t0005g0090 a0001c0003t0001g0079 a0001c0001t0082g0085 a0001c0002t0005g0090 a0001c0003t0001g0079	3	170	0.0177	-38	c.68- others(55): Show c.68-66154_68-66117delCCTGCTTTCTGTAATTCTTGTACACACC AATTTCCCAC	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSH2_chr17_29620938_29935228	29729817	TGGGAGCT others(31): Show TGGGAGCTAAAAATGAAAACAATTGAACTTATGGAGCTA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	232	0.0043	-38	c.189 others(57): Show c.189-26793_189-26756delTAGCTCCATAAGTTCAATTGTTTTCA TTTTTAGCTCCC	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	3/15			chr17	TogoVar
ST6GAL1_chr3_186925526_187083553	186926202	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	362	0.0028	-38	c.-49 others(49): Show c.-4956_-4919delATATATATATATATATATATATATATATATATAT ATAT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding		4323		chr3	TogoVar
STAT6_chr12_57090408_57116362	57100662	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	368	0.0027	-38	c.151 others(55): Show c.1513-610_1513-573delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STIM2_chr4_26855841_27030381	26885821	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01255.hp2 others(7): Show HG00733.hp1 HG01106.hp2 HG01255.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0027 a0001c0002t0009 others(1): Show a0001c0001t0010 a0001c0001t0027 a0001c0002t0009 a0001c0002t0023	a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0105 others(7): Show a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0027g0104 a0001c0002t0009g0103 a0001c0002t0009g0114 a0001c0002t0009g0115 a0001c0002t0009g0149 a0001c0002t0023g0155	10	336	0.0298	-38	c.151 others(57): Show c.151+24468_151+24505delATATATATATATATATATATATATAT ATATATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172056966	AGAAAGAA others(31): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG03471.hp2 HG01884.hp2 HG02896.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0029 a0004c0018 a0001c0002 a0001c0029 a0004c0018	a0001c0002t0039 a0001c0029t0003 a0004c0018t0041 a0001c0002t0039 a0001c0029t0003 a0004c0018t0041	a0001c0002t0039g0028 a0001c0029t0003g0053 a0004c0018t0041g0044 a0001c0002t0039g0028 a0001c0029t0003g0053 a0004c0018t0041g0044	3	232	0.0129	-38	c.233 others(55): Show c.2337+345_2337+382delCTTCTTTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK32C_chr10_132202492_132312950	132284326	TGGGGGGG others(31): Show TGGGGGGGCAGGTGAGGTTGGGGGGAACAGGTGAGGTTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01516.hp1 HG02683.hp2 others(4): Show HG00642.hp1 HG01516.hp1 HG02683.hp2 HG03017.hp1 HG03831.hp1 HG04115.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0003t0001 a0001c0017t0001	a0001c0001t0001g0115 a0001c0001t0004g0116 a0001c0002t0003g0305 others(4): Show a0001c0001t0001g0115 a0001c0001t0004g0116 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0003t0001g0308 a0001c0017t0001g0321	7	368	0.0190	-38	c.262 others(57): Show c.262+23208_262+23245delCAACCTCACCTGTTCCCCCCAACCTC ACCTGCCCCCCC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STOML3_chr13_38960925_38995831	38986916	AGGAAGAT others(31): Show AGGAAGATTCTTTTGCATGTTAATTTTGAGAAGAGCATC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	396	0.0025	-38	c.52+ others(53): Show c.52+3716_52+3753delGATGCTCTTCTCAAAATTAACATGCAAAAG AATCTTCC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38987804	ATATATAA others(31): Show ATATATAATATATTATATTTTATATAATATATTATATTT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	396	0.0025	-38	c.52+ others(53): Show c.52+2828_52+2865delAAATATAATATATTATATAAAATATAATAT ATTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38987856	ATATGTTA others(31): Show ATATGTTATATATAATATATTATATTTTATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00639.hp1 others(30): Show HG00408.hp1 HG00558.hp2 HG00639.hp1 HG01109.hp1 HG01243.hp2 HG02015.hp1 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03516.hp2 HG03540.hp1 NA18961.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0004c0003t0004	a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0082 others(26): Show a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0203 a0001c0001t0002g0017 a0001c0001t0002g0196 a0001c0001t0003g0084 a0001c0001t0003g0096 a0001c0001t0003g0218 a0001c0001t0004g0016 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0095 a0001c0001t0004g0101 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0007g0204 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0002g0018 a0002c0002t0002g0097 a0004c0003t0004g0094	33	396	0.0833	-38	c.52+ others(53): Show c.52+2776_52+2813delATATATTATATAAAATATAATATATTATAT ATAACATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STX1B_chr16_30984256_31015638	31013375	TTCTTCTT others(31): Show TTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCCTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp1 others(33): Show HG00408.hp1 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01099.hp2 HG01123.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02523.hp2 HG02630.hp1 HG03098.hp1 HG03540.hp2 HG03669.hp2 NA18944.hp1 NA18952.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp1 NA18995.hp2 NA18998.hp2 NA19010.hp1 NA19010.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023 a0001c0001t0045 a0001c0001t0054	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0007g0033 a0001c0001t0014g0018 a0001c0001t0017g0139 a0001c0001t0023g0141 a0001c0001t0045g0138 a0001c0001t0054g0119	36	282	0.1277	-38	c.-30 others(49): Show c.-3017_-2980delGGAAGAGGAAGAAGAAGAAGAAAAGAAGAAGAAG AAGA	STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding		2738		chr16	TogoVar
STX6_chr1_180967725_181027870	181023039	TCTCTCTC others(31): Show TCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA18612.hp2 NA18953.hp1 others(3): Show HG02083.hp2 NA18612.hp2 NA18953.hp1 NA18961.hp2 NA18999.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0183 a0001c0001t0001g0184	6	350	0.0171	-38	c.-40 others(47): Show c.-404_-367delGAGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGAG AG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		170		chr1	TogoVar
STXBP1_chr9_127607277_127697699	127624053	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG01070.hp2 others(10): Show HG00323.hp2 HG00597.hp1 HG01070.hp2 HG01106.hp2 HG02080.hp1 HG02698.hp2 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 NA18973.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0150 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0006g0174 a0001c0001t0010g0168	13	300	0.0433	-38	c.37+ others(55): Show c.37+11624_37+11661delATATATATATATATATATATATATATAT ATATATATAT	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP3_chr1_108741674_108814523	108771654	CTATATAT others(31): Show CTATATATATCATATATAAATATATATGATATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	334	0.0030	-38	c.439 others(54): Show c.439-1003_439-966delATCATATATAAATATATATGATATCTATC TATATATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5L_chr3_120903205_121429761	121218185	GATATAGT others(31): Show GATATAGTATATATATTACTATATACTATACATAGTATA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	290	0.0035	-38	c.957 others(55): Show c.957-4714_957-4677delTACATAGTATAATATAGTATATATATTA CTATATACTA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121392133	TGCCACCT others(31): Show TGCCACCTTGCAGATCAATCTCAGACTGCTGTGCTAGCA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	290	0.0035	-38	c.258 others(59): Show c.2587+10603_2587+10640delCCACCTTGCAGATCAATCTCAGAC TGCTGTGCTAGCAG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STYXL1_chr7_75991342_76053000	76046274	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	356	0.0028	-38	c.-5+ others(53): Show c.-5+1350_-5+1387delCACACACACACACACACACACACACACACA CACACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046311	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0174 a0002c0004t0001g0174	1	356	0.0028	-38	c.-5+ others(53): Show c.-5+1313_-5+1350delGCGCGCGCGCACACACACACACACACACAC ACACACAC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL2_chr1_167089075_167134165	167111477	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0259 a0001c0020t0001g0259	1	362	0.0028	-38	c.111 others(55): Show c.111-2231_111-2194delTATATATATATATATATATATATATATA TATATATACA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
STYXL2_chr1_167089075_167134165	167120829	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00738.hp1 others(10): Show HG00099.hp1 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01256.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG03471.hp1 HG03516.hp2 NA18940.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0002c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002 a0004c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0083 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0215 a0001c0001t0006g0103 a0002c0002t0003g0084 a0002c0002t0004g0082 a0002c0002t0004g0088 a0003c0003t0002g0140 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0106	13	362	0.0359	-38	c.655 others(55): Show c.655+1383_655+1420delTATATATATATATATATATATATATATA TATATATATA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUGCT_chr7_40130005_40865763	40272141	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG00738.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	8	0.2500	-38	c.577 others(55): Show c.577-2356_577-2319delTATATATATATATATATATATATATATA TATATATATA	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SULF1_chr8_69487847_69665912	69617373	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02280.hp1 others(5): Show HG01243.hp1 HG02109.hp1 HG02280.hp1 HG02683.hp2 HG02922.hp2 HG03540.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0004g0158 others(5): Show a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0004g0158 a0001c0001t0005g0163 a0001c0001t0009g0284 a0001c0001t0009g0290 a0001c0001t0013g0125 a0001c0001t0019g0286	8	296	0.0270	-38	c.137 others(57): Show c.1378-3638_1378-3601delATATATATATATATATATATATATAT ATATATATATAT	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF2_chr20_47652406_47790481	47745392	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02258.hp1 HG01070.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0360 a0001c0001t0003g0361	2	364	0.0055	-38	c.176 others(55): Show c.176-8488_176-8451delATATATATATATATATATATTTTTTTTT TTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745394	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19043.hp1 NA18982.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0031 a0001c0002t0002g0222 a0001c0002t0001g0031 a0001c0002t0002g0222	2	364	0.0055	-38	c.176 others(55): Show c.176-8490_176-8453delATATATATATATATATATATATTTTTTT TTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745396	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp2 HG03540.hp1 others(4): Show HG01884.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG04204.hp2 NA18979.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011	a0001c0001t0001g0076 a0001c0001t0002g0276 a0001c0002t0001g0093 others(4): Show a0001c0001t0001g0076 a0001c0001t0002g0276 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0205 a0001c0002t0003g0363 a0001c0002t0011g0002	7	364	0.0192	-38	c.176 others(55): Show c.176-8492_176-8455delATATATATATATATATATATATATTTTT TTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745398	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01975.hp1 HG02040.hp2 others(17): Show HG00544.hp1 HG01975.hp1 HG02040.hp2 HG02132.hp2 HG02698.hp2 HG02965.hp2 HG03017.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18950.hp2 NA18955.hp2 NA18962.hp2 NA18968.hp2 NA18977.hp1 NA18990.hp1 NA18993.hp1 NA19004.hp2 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0113 a0001c0001t0001g0123 others(17): Show a0001c0001t0001g0062 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0144 a0001c0001t0002g0247 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0286 a0001c0001t0003g0312 a0001c0001t0003g0337 a0001c0001t0004g0122 a0001c0001t0004g0157 a0001c0001t0006g0228 a0001c0001t0007g0121 a0001c0001t0010g0118 a0001c0002t0001g0025 a0001c0002t0001g0097	20	364	0.0550	-38	c.176 others(55): Show c.176-8494_176-8457delATATATATATATATATATATATATATTT TTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745400	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	364	0.0028	-38	c.176 others(55): Show c.176-8496_176-8459delATATATATATATATATATATATATATAT TTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SUN1_chr7_827476_879934	868480	ATGTTGGT others(31): Show ATGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG00639.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	2	418	0.0048	-38	c.198 others(55): Show c.1981-818_1981-781delGGGGGGGCAGTGCTGGTTCCCTGTGGTG TTGGTCGGAT	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUPT3H_chr6_44821726_45382934	45212479	CTATGTGT others(31): Show CTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04115.hp2 HG02004.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0003g0023 a0001c0001t0001g0096 a0001c0001t0003g0023	2	262	0.0076	-38	c.102 others(59): Show c.102-106511_102-106474delCACACACACACACACACACACACA CACACACACACATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45288561	ATATGTAT others(31): Show ATATGTATATATATATATATATGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02717.hp1 HG02717.hp2 others(7): Show HG02155.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02976.hp1 HG03225.hp2 HG03654.hp1 HG03710.hp2 NA19030.hp2 NA19054.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 a0001c0006t0017 a0003c0005t0021	a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0083 others(7): Show a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0207 a0001c0001t0006g0090 a0001c0001t0022g0259 a0001c0006t0017g0099 a0003c0005t0021g0260	10	262	0.0382	-38	c.101 others(57): Show c.101+76602_101+76639delCACATATATATATATACATATATATA TATATATACATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD4_chr1_223215831_223369176	223304793	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0219 a0001c0006t0003g0219	1	276	0.0036	-38	c.149 others(57): Show c.149-12180_149-12143delATATATATATATATATATATATATAT ATATATATATAT	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	2/8			chr1	TogoVar
SV2C_chr5_76078383_76338956	76223459	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02572.hp1 others(11): Show HG01884.hp1 HG02055.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0006 a0003c0004	a0001c0001t0009 a0001c0001t0012 a0001c0001t0082 others(11): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0082 a0001c0001t0122 a0001c0001t0141 a0001c0002t0013 a0001c0002t0100 a0001c0007t0007 a0002c0003t0087 a0002c0003t0119 a0002c0006t0095 a0003c0004t0026 a0003c0004t0057 a0003c0004t0139	a0001c0001t0009g0190 a0001c0001t0012g0223 a0001c0001t0082g0220 others(11): Show a0001c0001t0009g0190 a0001c0001t0012g0223 a0001c0001t0082g0220 a0001c0001t0122g0011 a0001c0001t0141g0013 a0001c0002t0013g0082 a0001c0002t0100g0206 a0001c0007t0007g0078 a0002c0003t0087g0021 a0002c0003t0119g0187 a0002c0006t0095g0091 a0003c0004t0026g0147 a0003c0004t0057g0071 a0003c0004t0139g0016	14	234	0.0598	-38	c.913 others(57): Show c.913+13578_913+13615delATATATATATATATATATATATATAT ATATATGTATAT	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390253	ATATAAGT others(31): Show ATATAAGTATGTATATATATACTTATATATATACATACT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0011 a0001c0061t0011	a0001c0061t0011g0008 a0001c0061t0011g0008	1	362	0.0028	-38	c.982 others(55): Show c.9823-704_9823-667delAGTATGTATATATATAAGTATATATATA CATACTTATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SWAP70_chr11_9659077_9757993	9675320	CGAGAGAG others(31): Show CGAGAGAGAGAGAGAGAGAGAGGGAGCGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03239.hp2 NA19030.hp2 HG02615.hp1 HG03239.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0003t0027 a0002c0004t0001 a0001c0002t0002 a0001c0003t0027 a0002c0004t0001	a0001c0002t0002g0259 a0001c0003t0027g0030 a0002c0004t0001g0184 a0001c0002t0002g0259 a0001c0003t0027g0030 a0002c0004t0001g0184	3	294	0.0102	-38	c.99+ others(55): Show c.99+11064_99+11101delGGAGCGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYCE3_chr22_50546112_50567919	50562606	GGCGAGGC others(31): Show GGCGAGGCTGGGTGAGGAGGCGGGTGAGCGGTGACGTGA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	414	0.0024	-38	c.-1+ others(51): Show c.-1+214_-1+251delTCACGTCACCGCTCACCCGCCTCCTCACCCAG CCTCGC	SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding	1/2			chr22	TogoVar
SYNE2_chr14_63848004_64231433	64014942	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03516.hp2 NA21309.hp1 HG01074.hp1 HG03516.hp2 NA21309.hp1	a0016 a0024 a0016 a0024	a0016c0070 a0024c0098 a0024c0099 a0016c0070 a0024c0098 a0024c0099	a0016c0070t0001 a0024c0098t0001 a0024c0099t0003 a0016c0070t0001 a0024c0098t0001 a0024c0099t0003	a0016c0070t0001g0092 a0024c0098t0001g0082 a0024c0099t0003g0081 a0016c0070t0001g0092 a0024c0098t0001g0082 a0024c0099t0003g0081	3	150	0.0200	-38	c.472 others(57): Show c.4729-1529_4729-1492delTATATATATATATATATATATATATA TATATACACACA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	32/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNPO2_chr4_118883854_119066247	119007216	GTATATAT others(31): Show GTATATATATATATATATATATATATATATGTATATACA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp1 HG03516.hp2 NA19043.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0011 a0007c0010t0011	a0007c0010t0011g0040 a0007c0010t0011g0250 a0007c0010t0011g0040 a0007c0010t0011g0250	2	310	0.0065	-38	c.106 others(57): Show c.106-16192_106-16155delATATATATGTATATACATATATATAT ATATATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYT1_chr12_78859774_79457008	79224740	TTTATTTA others(31): Show TTTATTTATTTTTTATTATTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG01243.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0038 a0001c0001t0009g0016 a0001c0001t0007g0038 a0001c0001t0009g0016	2	62	0.0323	-38	c.166 others(55): Show c.166+7061_166+7098delTATTTTTTATTATTATTATTATTATTAT TATTATTATT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT2_chr1_202585596_202715454	202629887	GGCAGGTG others(31): Show GGCAGGTGTGTTGCTCAGAAGTGACTCTGGAAGTCACTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00642.hp1 others(13): Show HG00408.hp2 HG00609.hp2 HG00642.hp1 HG01106.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG02027.hp2 HG03017.hp1 HG04204.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0008	a0001c0001t0003 a0001c0001t0046 a0001c0002t0002 others(9): Show a0001c0001t0003 a0001c0001t0046 a0001c0002t0002 a0001c0002t0013 a0001c0002t0021 a0001c0002t0030 a0001c0002t0065 a0001c0003t0027 a0001c0003t0028 a0001c0003t0042 a0001c0003t0076 a0002c0008t0079	a0001c0001t0003g0183 a0001c0001t0046g0010 a0001c0002t0002g0182 others(13): Show a0001c0001t0003g0183 a0001c0001t0046g0010 a0001c0002t0002g0182 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0013g0105 a0001c0002t0021g0144 a0001c0002t0021g0149 a0001c0002t0030g0011 a0001c0002t0065g0259 a0001c0003t0027g0019 a0001c0003t0027g0222 a0001c0003t0028g0139 a0001c0003t0042g0138 a0001c0003t0076g0157 a0002c0008t0079g0253	16	276	0.0580	-38	c.-17 others(57): Show c.-17-24136_-17-24099delTAGTGACTTCCAGAGTCACTTCTGAG CAACACACCTGC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT9_chr11_7246904_7474043	7432576	AAAAAAAA others(31): Show AAAAAAAATATATATACATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	272	0.0037	-38	c.146 others(59): Show c.1467+11943_1467+11980delAAAAAATATATATACATATATATA TATATATATATATA	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT9_chr11_7246904_7474043	7432582	AATATATA others(31): Show AATATATATACATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	272	0.0037	-38	c.146 others(59): Show c.1467+11957_1467+11994delCATATATATATATATATATATATA TATATATATATATA	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
TACR1_chr2_75041463_75204520	75154450	ACTCTGAA others(31): Show ACTCTGAAGAAACCCAGTGGAGATTCAGCACTAACCCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01256.hp1 HG01257.hp1 others(5): Show HG00140.hp2 HG01256.hp1 HG01257.hp1 HG02818.hp2 HG06807.hp1 NA18612.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0003t0004	a0001c0001t0001g0112 a0001c0001t0002g0091 a0001c0001t0002g0117 others(5): Show a0001c0001t0001g0112 a0001c0001t0002g0091 a0001c0001t0002g0117 a0001c0001t0003g0137 a0001c0002t0001g0196 a0001c0002t0001g0202 a0001c0002t0006g0263 a0001c0003t0004g0162	8	282	0.0284	-38	c.390 others(57): Show c.390-33720_390-33683delGTGGGTTAGTGCTGAATCTCCACTGG GTTTCTTCAGAG	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar

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