Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STX18_chr4_4413968_4547048	4527867	C C	CACACATA others(7): Show CACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02572.hp2 others(4): Show HG02055.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG03139.hp1 HG03486.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0003c0003t0006 a0001c0001t0002 a0001c0001t0003 a0003c0003t0006	a0001c0001t0002g0008 a0001c0001t0003g0005 a0001c0001t0003g0006 others(4): Show a0001c0001t0002g0008 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0070 a0001c0001t0003g0071 a0003c0003t0006g0009	7	246	0.0285	14	c.168 others(33): Show c.168+13929_168+13930insATATATATATGTGT	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX18_chr4_4413968_4547048	4527867	C C	CACATATA others(7): Show CACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02615.hp2 others(2): Show HG02055.hp1 HG02451.hp2 HG02615.hp2 HG03139.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0004 a0005c0005t0002 a0002c0002t0004 a0005c0005t0002	a0002c0002t0004g0235 a0002c0002t0004g0236 a0002c0002t0004g0237 others(2): Show a0002c0002t0004g0235 a0002c0002t0004g0236 a0002c0002t0004g0237 a0002c0002t0004g0238 a0005c0005t0002g0225	5	246	0.0203	14	c.168 others(33): Show c.168+13929_168+13930insATATATATATATGT	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX18_chr4_4413968_4547048	4531152	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02145.hp2 HG02622.hp2 others(2): Show HG01255.hp2 HG02145.hp2 HG02622.hp2 HG03453.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0037 a0001c0001t0002g0060 a0001c0001t0002g0061 others(2): Show a0001c0001t0002g0037 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0003g0028	5	246	0.0203	14	c.168 others(33): Show c.168+10631_168+10644dupGTGTGTGTGTGTGT	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(7): Show AAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	380	0.0026	14	c.205 others(31): Show c.205+3503_205+3504insATATATTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02257.hp2 HG02818.hp1 HG02132.hp1 HG02257.hp2 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0091 a0002c0002t0008g0328 a0002c0002t0008g0330 a0002c0002t0002g0091 a0002c0002t0008g0328 a0002c0002t0008g0330	3	380	0.0079	14	c.205 others(31): Show c.205+3503_205+3504insATATATATATTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130842999	A A	AAGAAGGA others(7): Show AAGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	380	0.0026	14	c.-39 others(25): Show c.-3901_-3900insCCTTCCTTCCTTCT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3750		chr12	TogoVar
STX3_chr11_59750376_59810878	59781100	T T	TTTTTTTT others(7): Show TTTTTTTTTTATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG02280.hp1 others(18): Show HG00642.hp1 HG01123.hp1 HG02280.hp1 HG03041.hp2 HG03139.hp1 HG03710.hp2 NA18939.hp1 NA18941.hp1 NA18948.hp2 NA18949.hp1 NA18961.hp1 NA18967.hp2 NA18973.hp2 NA18991.hp2 NA18995.hp1 NA19030.hp2 NA19043.hp1 NA19067.hp2 NA19078.hp1 NA19079.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018	a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 others(18): Show a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0005g0148 a0001c0001t0005g0174 a0001c0001t0010g0166 a0001c0001t0010g0169 a0001c0001t0017g0180 a0001c0001t0018g0163	21	218	0.0963	14	c.115 others(31): Show c.115-5936_115-5935insTTTTTTTTATATAT	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX7_chr6_132440867_132518116	132462582	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0039 a0001c0001t0015g0039	1	380	0.0026	14	c.693 others(31): Show c.693+1397_693+1410dupACACACACACACAC	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	9/9			chr6	TogoVar
STX8_chr17_9245471_9580820	9253207	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02572.hp2 HG03453.hp1 others(1): Show HG01192.hp2 HG02572.hp2 HG03453.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0002 a0001c0003t0002 a0001c0008t0002 a0001c0001t0002 a0001c0003t0002 a0001c0008t0002	a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0003t0002g0040 others(1): Show a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0003t0002g0040 a0001c0008t0002g0187	4	188	0.0213	14	c.644 others(31): Show c.644-2576_644-2563dupACACACACACACAC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9345848	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	188	0.0053	14	c.643 others(33): Show c.643+32690_643+32703dupAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9384794	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03130.hp1 HG03225.hp2 others(6): Show HG00558.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 NA18971.hp2 NA18982.hp1 NA19004.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001	a0001c0002t0001g0007 a0001c0002t0002g0002 a0001c0003t0001g0072 others(6): Show a0001c0002t0001g0007 a0001c0002t0002g0002 a0001c0003t0001g0072 a0001c0003t0002g0005 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0175 a0001c0004t0002g0088 a0001c0007t0001g0086	9	188	0.0479	14	c.542 others(31): Show c.542-6155_542-6142dupCACACACACACACA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9429959	A A	ATATAATA others(7): Show ATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0144 a0001c0004t0001g0144	1	188	0.0053	14	c.542 others(33): Show c.542-51307_542-51306insATATATATATTATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9429989	A A	ATATATTA others(7): Show ATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	188	0.0053	14	c.542 others(33): Show c.542-51337_542-51336insATATATATAATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9471031	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18522.hp1 HG03704.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0136 a0001c0004t0001g0144 a0001c0001t0002g0136 a0001c0004t0001g0144	2	188	0.0106	14	c.541 others(33): Show c.541+20784_541+20797dupAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9488821	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG03453.hp1 HG02145.hp2 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0002 a0001c0003t0001 a0001c0008t0002	a0001c0003t0001g0001 a0001c0003t0001g0032 a0001c0008t0002g0187 a0001c0003t0001g0001 a0001c0003t0001g0032 a0001c0008t0002g0187	3	188	0.0160	14	c.541 others(31): Show c.541+2994_541+3007dupACACACACACACAC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9503105	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 HG02145.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0032 a0001c0005t0001g0186 a0001c0003t0001g0032 a0001c0005t0001g0186	2	188	0.0106	14	c.448 others(31): Show c.448+1919_448+1932dupTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	188	0.0053	14	c.448 others(27): Show c.448+51_448+64dupTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9527185	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02965.hp2 others(4): Show HG02109.hp1 HG02630.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0110 a0001c0002t0001g0029 a0001c0002t0002g0024 others(4): Show a0001c0001t0001g0110 a0001c0002t0001g0029 a0001c0002t0002g0024 a0001c0003t0002g0005 a0001c0003t0002g0069 a0001c0004t0001g0095 a0001c0004t0001g0122	7	188	0.0372	14	c.323 others(33): Show c.323+17973_323+17986dupTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18948.hp2 NA18986.hp2 others(1): Show HG02132.hp1 NA18948.hp2 NA18986.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0003t0001g0019 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0003t0001g0019 a0001c0007t0001g0157	4	188	0.0213	14	c.323 others(31): Show c.323+9734_323+9747dupAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9547246	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0049 a0001c0002t0001g0051	2	188	0.0106	14	c.213 others(31): Show c.213-1978_213-1965dupTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559737	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03239.hp1 HG00323.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0001g0099 a0001c0001t0001g0153	2	188	0.0106	14	c.118 others(31): Show c.118-2210_118-2209insGTATATATATATAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG01496.hp1 others(5): Show HG00738.hp2 HG01346.hp1 HG01496.hp1 HG02148.hp1 HG03710.hp2 NA18957.hp2 NA18959.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0152 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0002g0097 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0004t0001g0078	8	188	0.0426	14	c.118 others(31): Show c.118-2233_118-2232insAAAATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00642.hp2 others(16): Show HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01081.hp1 HG01123.hp1 HG01257.hp2 HG01993.hp1 HG01993.hp2 HG02132.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02897.hp2 HG03490.hp1 HG03831.hp2 NA18522.hp1 NA18957.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0112 others(16): Show a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0148 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0004t0001g0082 a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0156 a0001c0004t0002g0117	19	188	0.1011	14	c.118 others(31): Show c.118-2233_118-2232insAAAAAATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18982.hp2 NA19088.hp1 others(1): Show NA18965.hp2 NA18982.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0003t0001g0019 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0003t0001g0019 a0001c0004t0001g0076	4	188	0.0213	14	c.118 others(31): Show c.118-2233_118-2232insAAAAAAAATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP2_chr19_7632110_7652873	7650203	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02451.hp2 HG02886.hp2 others(2): Show HG01123.hp2 HG02451.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0003 a0001c0001t0001 a0001c0007t0003	a0001c0001t0001g0007 a0001c0007t0003g0020 a0001c0001t0001g0007 a0001c0007t0003g0020	5	428	0.0117	14	c.23 others(25): Show c.2393_*2394insAAAAAAAAAAAAAA	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding		2331		chr19	TogoVar
STXBP3_chr1_108741674_108814523	108793157	A A	ATTTTTTT others(7): Show ATTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02647.hp2 others(8): Show HG00673.hp1 HG02027.hp2 HG02647.hp2 HG03453.hp2 NA19004.hp1 NA19010.hp1 NA19057.hp1 NA19068.hp2 NA19079.hp2 NA19083.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0003 a0001c0001t0002 a0001c0004t0003	a0001c0001t0002g0014 a0001c0001t0002g0069 a0001c0001t0002g0072 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0103 a0001c0001t0002g0121 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0004t0003g0157 a0001c0004t0003g0158	11	334	0.0329	14	c.964 others(29): Show c.964-416_964-415insCTTTTTTTTTTTTT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP4_chr17_54963765_55178632	54978342	T T	TATATGTA others(7): Show TATATGTACTATGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp2 others(59): Show HG00099.hp2 HG00438.hp2 HG00558.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp1 HG01517.hp2 HG01928.hp1 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18952.hp1 NA18970.hp1 NA18978.hp1 NA19030.hp1 NA19074.hp1 NA19081.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0003 a0003c0006 others(2): Show a0001c0001 a0002c0003 a0003c0006 a0004c0007 a0008c0014	a0001c0001t0009 a0001c0001t0019 a0001c0001t0029 others(29): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0029 a0001c0001t0064 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0081 a0001c0001t0087 a0001c0001t0090 a0001c0001t0099 a0002c0003t0004 a0002c0003t0006 a0002c0003t0011 a0002c0003t0016 a0002c0003t0030 a0002c0003t0051 a0002c0003t0054 a0002c0003t0065 a0002c0003t0079 a0002c0003t0083 a0002c0003t0084 a0002c0003t0085 a0002c0003t0086 a0002c0003t0088 a0002c0003t0089 a0003c0006t0092 a0004c0007t0020 a0008c0014t0133	a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019 others(57): Show a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0110 a0001c0001t0009g0111 a0001c0001t0009g0112 a0001c0001t0019g0013 a0001c0001t0019g0014 a0001c0001t0019g0015 a0001c0001t0029g0115 a0001c0001t0029g0116 a0001c0001t0064g0016 a0001c0001t0069g0272 a0001c0001t0071g0109 a0001c0001t0072g0273 a0001c0001t0074g0011 a0001c0001t0075g0271 a0001c0001t0080g0114 a0001c0001t0081g0108 a0001c0001t0087g0117 a0001c0001t0090g0012 a0001c0001t0099g0021 a0002c0003t0004g0122 a0002c0003t0004g0123 a0002c0003t0004g0124 a0002c0003t0006g0003 a0002c0003t0006g0119 a0002c0003t0006g0129 a0002c0003t0006g0134 a0002c0003t0006g0135 a0002c0003t0006g0138 a0002c0003t0006g0139 a0002c0003t0006g0140 a0002c0003t0006g0144 a0002c0003t0006g0145 a0002c0003t0006g0258 a0002c0003t0011g0118 a0002c0003t0011g0120 a0002c0003t0011g0131 a0002c0003t0011g0142 a0002c0003t0016g0004 a0002c0003t0016g0130 a0002c0003t0016g0147 a0002c0003t0030g0126 a0002c0003t0030g0128 a0002c0003t0051g0136 a0002c0003t0054g0141 a0002c0003t0065g0121 a0002c0003t0079g0127 a0002c0003t0083g0132 a0002c0003t0084g0137 a0002c0003t0085g0133 a0002c0003t0086g0146 a0002c0003t0088g0125 a0002c0003t0089g0143 a0003c0006t0092g0113 a0004c0007t0020g0009 a0004c0007t0020g0010 a0008c0014t0133g0008	62	378	0.1640	14	c.-15 others(33): Show c.-156-7259_-156-7246dupTAATATGTACTATG	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55047185	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp1 HG02109.hp2 others(8): Show HG00673.hp2 HG02055.hp1 HG02109.hp2 HG02622.hp1 HG02630.hp2 HG02970.hp1 HG03041.hp2 HG03540.hp1 NA18522.hp1 NA18963.hp2 NA18998.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0008 a0001c0001 a0003c0004 a0007c0008	a0001c0001t0034 a0001c0001t0098 a0003c0004t0013 others(3): Show a0001c0001t0034 a0001c0001t0098 a0003c0004t0013 a0003c0004t0031 a0003c0004t0131 a0007c0008t0021	a0001c0001t0034g0254 a0001c0001t0034g0256 a0001c0001t0098g0257 others(8): Show a0001c0001t0034g0254 a0001c0001t0034g0256 a0001c0001t0098g0257 a0003c0004t0013g0260 a0003c0004t0013g0262 a0003c0004t0013g0263 a0003c0004t0013g0265 a0003c0004t0013g0266 a0003c0004t0031g0261 a0003c0004t0131g0264 a0007c0008t0021g0267	11	378	0.0291	14	c.101 others(29): Show c.1011+51_1011+64dupTGTGTGTGTGTGTG	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP5L_chr3_120903205_121429761	121297202	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	290	0.0035	14	c.211 others(35): Show c.2110+17271_2110+17284dupTGTGTGTGTGTGTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	290	0.0035	14	c.211 others(33): Show c.2111-6010_2111-5997dupTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147273195	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(70): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp2 HG01496.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18972.hp2 NA18980.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19006.hp2 NA19030.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0002c0002 a0003c0005 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0003t0002 a0001c0007t0019 a0001c0011t0003 a0002c0002t0002 a0002c0002t0008 a0003c0005t0015 a0007c0009t0003	a0001c0001t0001g0012 a0001c0001t0001g0204 a0001c0001t0001g0220 others(70): Show a0001c0001t0001g0012 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0001t0003g0002 a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0202 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0325 a0001c0001t0003g0328 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0003g0338 a0001c0001t0003g0340 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0005g0041 a0001c0001t0006g0154 a0001c0001t0010g0312 a0001c0001t0010g0322 a0001c0001t0010g0323 a0001c0001t0010g0324 a0001c0001t0010g0327 a0001c0001t0010g0333 a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 a0001c0001t0011g0263 a0001c0001t0011g0331 a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0012g0346 a0001c0001t0013g0184 a0001c0001t0016g0046 a0001c0001t0016g0278 a0001c0001t0016g0286 a0001c0001t0018g0335 a0001c0001t0018g0336 a0001c0001t0018g0337 a0001c0001t0022g0296 a0001c0001t0039g0058 a0001c0001t0040g0313 a0001c0001t0041g0141 a0001c0001t0042g0321 a0001c0003t0002g0008 a0001c0007t0019g0309 a0001c0007t0019g0310 a0001c0011t0003g0314 a0002c0002t0002g0081 a0002c0002t0008g0248 a0003c0005t0015g0179 a0003c0005t0015g0183 a0007c0009t0003g0319	73	350	0.2086	14	c.715 others(31): Show c.715-4873_715-4872insAAAAAAAAAAAAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147320579	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp1 HG02055.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0036 a0001c0001t0005 a0001c0001t0036	a0001c0001t0005g0041 a0001c0001t0036g0169 a0001c0001t0005g0041 a0001c0001t0036g0169	2	350	0.0057	14	c.180 others(33): Show c.1802+4185_1802+4186insTTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337192	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02970.hp2 HG02056.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0170 a0001c0001t0003g0002 a0001c0001t0001g0170 a0001c0001t0003g0002	2	350	0.0057	14	c.214 others(33): Show c.2147-1977_2147-1964dupCACACACACACACA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147372406	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	350	0.0029	14	c.308 others(33): Show c.3082-1325_3082-1324insTTTTTTTTTTTTTT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27			chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392003	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02735.hp2 HG02886.hp2 HG00099.hp2 HG02735.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0130 a0002c0002t0002g0168 a0002c0002t0002g0068 a0002c0002t0002g0130 a0002c0002t0002g0168	3	350	0.0086	14	c.72 others(25): Show c.7248_*7249insGAGAGAGAGAGAGA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1531		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(7): Show AGAGAGAGAGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG01978.hp2 others(17): Show HG00741.hp1 HG01891.hp1 HG01978.hp2 HG02004.hp2 HG03491.hp2 HG04199.hp1 HG04204.hp2 NA18941.hp1 NA18946.hp1 NA18970.hp1 NA18993.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp1 NA19012.hp2 NA19054.hp2 NA19060.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0003t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0033	a0001c0003t0002g0295 a0002c0002t0002g0025 a0002c0002t0002g0026 others(17): Show a0001c0003t0002g0295 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0069 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0112 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0132 a0002c0002t0002g0150 a0002c0002t0002g0153 a0002c0002t0004g0061 a0002c0002t0004g0116 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0129 a0002c0002t0033g0349	20	350	0.0571	14	c.72 others(25): Show c.7262_*7263insGAGAGAGAGAGAGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(7): Show AGAGAGAGAGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0020 a0002c0002t0014g0020	1	350	0.0029	14	c.72 others(25): Show c.7262_*7263insGAGAGAGAGAGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGTGTG others(7): Show AGAGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02559.hp1 HG02630.hp2 others(5): Show HG02027.hp1 HG02559.hp1 HG02630.hp2 HG03540.hp2 NA19060.hp1 NA19068.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0038 a0001c0011t0003	a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0010g0323 others(5): Show a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0010g0323 a0001c0001t0010g0327 a0001c0001t0011g0331 a0001c0001t0012g0035 a0001c0001t0038g0334 a0001c0011t0003g0314	8	350	0.0229	14	c.72 others(25): Show c.7262_*7263insGAGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP6_chr14_24804454_25055147	24810865	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 NA18977.hp2 HG01978.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0101 a0001c0001t0060 a0001c0001t0101	a0001c0001t0060g0052 a0001c0001t0101g0205 a0001c0001t0060g0052 a0001c0001t0101g0205	2	242	0.0083	14	c.18 others(25): Show c.1843_*1844insCACACACACACAGA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	6/6	1843		chr14	TogoVar
STXBP6_chr14_24804454_25055147	24810865	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00738.hp2 others(26): Show HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01192.hp2 HG01981.hp1 HG02523.hp1 HG02559.hp2 HG02683.hp2 HG02818.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18998.hp2 NA19009.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 others(11): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0044 a0001c0001t0048 a0001c0001t0053 a0001c0001t0068 a0001c0001t0079 a0001c0001t0082 a0001c0001t0095 a0001c0001t0103 a0001c0001t0111	a0001c0001t0005g0018 a0001c0001t0005g0087 a0001c0001t0005g0099 others(26): Show a0001c0001t0005g0018 a0001c0001t0005g0087 a0001c0001t0005g0099 a0001c0001t0005g0102 a0001c0001t0005g0105 a0001c0001t0005g0118 a0001c0001t0005g0133 a0001c0001t0011g0047 a0001c0001t0011g0056 a0001c0001t0011g0079 a0001c0001t0011g0110 a0001c0001t0011g0134 a0001c0001t0024g0213 a0001c0001t0024g0234 a0001c0001t0024g0237 a0001c0001t0025g0003 a0001c0001t0025g0136 a0001c0001t0029g0120 a0001c0001t0029g0141 a0001c0001t0044g0224 a0001c0001t0044g0225 a0001c0001t0048g0001 a0001c0001t0053g0080 a0001c0001t0068g0042 a0001c0001t0079g0159 a0001c0001t0082g0177 a0001c0001t0095g0200 a0001c0001t0103g0228 a0001c0001t0111g0215	29	242	0.1198	14	c.18 others(25): Show c.1830_*1843dupCACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	6/6	1843		chr14	TogoVar
STXBP6_chr14_24804454_25055147	24882378	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02735.hp2 NA18998.hp2 others(1): Show HG02055.hp1 HG02735.hp2 NA18998.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0039 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0039 a0001c0001t0095	a0001c0001t0004g0021 a0001c0001t0005g0118 a0001c0001t0039g0178 others(1): Show a0001c0001t0004g0021 a0001c0001t0005g0118 a0001c0001t0039g0178 a0001c0001t0095g0200	4	242	0.0165	14	c.155 others(33): Show c.155-25235_155-25222dupTTTTTTTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24918452	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	242	0.0041	14	c.154 others(33): Show c.154+56199_154+56212dupTGTGTGTGTGTGTG	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24945139	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19000.hp1 NA19058.hp2 others(1): Show NA18981.hp1 NA19000.hp1 NA19058.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0047 a0001c0001t0003 a0001c0001t0012 a0001c0001t0047	a0001c0001t0003g0131 a0001c0001t0012g0191 a0001c0001t0012g0236 others(1): Show a0001c0001t0003g0131 a0001c0001t0012g0191 a0001c0001t0012g0236 a0001c0001t0047g0204	4	242	0.0165	14	c.154 others(33): Show c.154+29512_154+29525dupAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24964647	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01070.hp1 others(10): Show HG00642.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01257.hp2 HG01515.hp2 HG01978.hp1 HG02135.hp1 HG03516.hp2 NA18612.hp1 NA18975.hp1 NA18989.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0001t0045 a0001c0001t0060 a0001c0001t0089 a0001c0001t0097 a0001c0001t0104 a0001c0001t0109	a0001c0001t0001g0053 a0001c0001t0002g0032 a0001c0001t0002g0054 others(10): Show a0001c0001t0001g0053 a0001c0001t0002g0032 a0001c0001t0002g0054 a0001c0001t0003g0019 a0001c0001t0004g0024 a0001c0001t0012g0198 a0001c0001t0020g0137 a0001c0001t0045g0194 a0001c0001t0060g0052 a0001c0001t0089g0175 a0001c0001t0097g0202 a0001c0001t0104g0196 a0001c0001t0109g0197	13	242	0.0537	14	c.154 others(33): Show c.154+10004_154+10017dupCACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24968170	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0179 a0001c0001t0040g0179	1	242	0.0041	14	c.154 others(31): Show c.154+6481_154+6494dupATATATATATATAT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24976852	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02280.hp1 others(3): Show HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG03139.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 others(3): Show a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0001c0001t0039 a0001c0001t0072 a0001c0001t0103	a0001c0001t0006g0004 a0001c0001t0018g0013 a0001c0001t0020g0135 others(3): Show a0001c0001t0006g0004 a0001c0001t0018g0013 a0001c0001t0020g0135 a0001c0001t0039g0188 a0001c0001t0072g0009 a0001c0001t0103g0228	6	242	0.0248	14	c.-32 others(31): Show c.-32-2016_-32-2003dupAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	75999507	G G	GTGGTGTG others(7): Show GTGGTGTGTGTATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	356	0.0028	14	c.810 others(31): Show c.810+1382_810+1383insATATACACACACCA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	75999511	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03239.hp1 HG03490.hp2 others(1): Show HG02698.hp1 HG03239.hp1 HG03490.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0014 others(1): Show a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0020	4	356	0.0112	14	c.810 others(31): Show c.810+1365_810+1378dupCACACACACACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02622.hp2 HG02970.hp2 others(2): Show HG02056.hp1 HG02622.hp2 HG02970.hp2 NA18943.hp2 NA18967.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0004 a0001c0001t0001 a0004c0007t0004	a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0205 a0004c0007t0004g0025	5	356	0.0140	14	c.307 others(31): Show c.307+3971_308-3980dupTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
SUB1_chr5_32580557_32609079	32590762	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp2 others(42): Show HG00140.hp2 HG00639.hp1 HG00642.hp2 HG01081.hp2 HG01099.hp1 HG01169.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp2 HG02015.hp1 HG02135.hp2 HG02148.hp1 HG02735.hp1 HG03239.hp2 HG03516.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04204.hp2 NA18941.hp1 NA18944.hp1 NA18965.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19006.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp1 NA19079.hp2 NA19081.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0106 a0001c0001t0002g0003 a0001c0001t0002g0015 others(10): Show a0001c0001t0001g0106 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0041 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0010g0128	45	446	0.1009	14	c.73- others(27): Show c.73-791_73-778dupTTTTTTTTTTTTTT	SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar

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