Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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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	4511713	AGTGTGTG others(1): Show AGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02129.hp1 HG02922.hp1 others(15): Show HG01943.hp1 HG02129.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18960.hp2 NA18978.hp1 NA18998.hp2 NA19010.hp1 NA19043.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0002c0002t0004 a0004c0004t0005	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0100 others(15): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0001g0155 a0001c0001t0002g0015 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0006g0231 a0001c0001t0009g0097 a0002c0002t0004g0240 a0004c0004t0005g0010 a0004c0004t0005g0013	18	246	0.0732	-8	c.168 others(27): Show c.168+30076_168+30083delACACACAC	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX18_chr4_4413968_4547048	4511754	GTGTGTGT others(1): Show GTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02055.hp2 HG02572.hp2 others(3): Show HG00621.hp2 HG02055.hp2 HG02572.hp2 HG03486.hp1 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0069 others(3): Show a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0106	6	246	0.0244	-8	c.168 others(27): Show c.168+30035_168+30042delTACACACA	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX19_chr3_94009365_94033597	94029301	CATATATA others(1): Show CATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02717.hp2 others(2): Show HG01884.hp2 HG01891.hp2 HG02717.hp2 HG03225.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0091 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0091	5	392	0.0128	-8	c.-95 others(17): Show c.-956_-949delATATATAT	STX19	ENSG00000178750.3	transcript	ENST00000315099.3	protein_coding		705		chr3	TogoVar
STX2_chr12_130784600_130844250	130818185	AATATATA others(1): Show AATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01192.hp2 others(13): Show HG00558.hp2 HG00642.hp2 HG01192.hp2 HG01433.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02738.hp1 HG02738.hp2 HG03927.hp1 HG03942.hp2 NA18966.hp2 NA19011.hp1 NA19067.hp1 NA19067.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0001g0125 a0001c0001t0001g0152 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0125 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0005g0279 a0001c0001t0006g0134	16	380	0.0421	-8	c.205 others(25): Show c.205+3496_205+3503delATATATAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130843025	GAAGAAAG others(1): Show GAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(60): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG01074.hp1 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01346.hp2 HG01891.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02698.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG03471.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18956.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp1 NA19005.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0010	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0009c0014 a0010c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0008t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0009 a0002c0002t0030 a0002c0002t0035 a0002c0002t0037 a0003c0003t0001 a0009c0014t0005 a0010c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(60): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0074 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0331 a0001c0001t0006g0134 a0001c0001t0006g0143 a0001c0001t0016g0139 a0001c0001t0026g0172 a0001c0001t0029g0120 a0001c0001t0031g0188 a0001c0001t0033g0187 a0001c0001t0034g0204 a0001c0008t0001g0162 a0002c0002t0002g0085 a0002c0002t0002g0342 a0002c0002t0002g0344 a0002c0002t0007g0020 a0002c0002t0009g0309 a0002c0002t0030g0347 a0002c0002t0035g0333 a0002c0002t0037g0332 a0003c0003t0001g0041 a0009c0014t0005g0348 a0010c0010t0001g0166	63	380	0.1658	-8	c.-39 others(19): Show c.-3934_-3927delTCTTTCTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3776		chr12	TogoVar
STX3_chr11_59750376_59810878	59754013	AAAACAAA others(1): Show AAAACAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG02300.hp1 others(4): Show HG00735.hp1 HG01175.hp2 HG02300.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG03710.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0011 a0001c0001t0001 a0004c0004t0011	a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0121 a0004c0004t0011g0150 a0004c0004t0011g0151	7	218	0.0321	-8	c.-15 others(19): Show c.-1592_-1585delAAACAAAC	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding		1362		chr11	TogoVar
STX4_chr16_31028558_31045164	31037671	TAATAAAT others(1): Show TAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02258.hp2 NA18906.hp2 HG01981.hp2 HG02258.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0002g0033 a0001c0001t0001g0031 a0001c0001t0002g0033	3	262	0.0115	-8	c.379 others(23): Show c.379-220_379-213delTAAATAAA	STX4	ENSG00000103496.15	transcript	ENST00000313843.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
STX5_chr11_62801860_62837051	62819220	GAAAAAAA others(1): Show GAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(150): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03704.hp2 HG03834.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0003c0009	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0008t0001 a0003c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0004t0001g0005 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0005t0001g0068 a0001c0008t0001g0055 a0003c0009t0001g0158	153	380	0.4026	-8	c.908 others(25): Show c.908+4938_908+4945delTTTTTTTT	STX5	ENSG00000162236.13	transcript	ENST00000294179.8	protein_coding	10/10			chr11	TogoVar
STX6_chr1_180967725_181027870	181023104	CCTCTCTC others(1): Show CCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01496.hp1 HG01516.hp2 others(3): Show HG01109.hp2 HG01496.hp1 HG01516.hp2 HG03139.hp2 HG03492.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0015 a0001c0002t0002 a0001c0002t0015	a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0229 others(2): Show a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0229 a0001c0002t0002g0244 a0001c0002t0015g0271	6	350	0.0171	-8	c.-43 others(17): Show c.-439_-432delAGAGAGAG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		235		chr1	TogoVar
STX7_chr6_132440867_132518116	132508734	ACTCCTGG others(1): Show ACTCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01891.hp1 others(52): Show HG00558.hp2 HG00597.hp1 HG01891.hp1 HG01934.hp2 HG02071.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18948.hp1 NA18949.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19075.hp2 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0038 a0001c0001t0043 a0001c0001t0069 a0001c0001t0070 a0001c0001t0074 a0001c0001t0076 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118	a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0003g0033 others(50): Show a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0006g0060 a0001c0001t0007g0053 a0001c0001t0011g0004 a0001c0001t0011g0048 a0001c0001t0011g0049 a0001c0001t0011g0051 a0001c0001t0011g0052 a0001c0001t0012g0056 a0001c0001t0012g0059 a0001c0001t0012g0072 a0001c0001t0012g0073 a0001c0001t0012g0074 a0001c0001t0012g0078 a0001c0001t0013g0005 a0001c0001t0013g0055 a0001c0001t0013g0057 a0001c0001t0013g0075 a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 a0001c0001t0014g0044 a0001c0001t0015g0039 a0001c0001t0016g0045 a0001c0001t0038g0054 a0001c0001t0038g0064 a0001c0001t0043g0080 a0001c0001t0069g0050 a0001c0001t0070g0034 a0001c0001t0074g0038 a0001c0001t0076g0058 a0001c0001t0113g0047 a0001c0001t0115g0040 a0001c0001t0116g0046 a0001c0001t0117g0036 a0001c0001t0118g0037	55	380	0.1447	-8	c.-59 others(25): Show c.-59+4265_-59+4272delCCCAGGAG	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX7_chr6_132440867_132518116	132517035	CATATATA others(1): Show CATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01891.hp1 others(8): Show HG00642.hp1 HG01070.hp2 HG01891.hp1 HG02165.hp1 HG02572.hp1 HG03491.hp1 HG03492.hp2 NA18964.hp2 NA18966.hp1 NA18978.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0034 a0001c0001t0041 a0001c0001t0082 a0001c0001t0118	a0001c0001t0001g0002 a0001c0001t0001g0085 a0001c0001t0001g0212 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0085 a0001c0001t0001g0212 a0001c0001t0002g0179 a0001c0001t0009g0003 a0001c0001t0015g0135 a0001c0001t0034g0271 a0001c0001t0041g0286 a0001c0001t0082g0219 a0001c0001t0118g0037	11	380	0.0290	-8	c.-40 others(19): Show c.-4095_-4088delATATATAT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding		3920		chr6	TogoVar
STX8_chr17_9245471_9580820	9255549	AATAAATA others(1): Show AATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04199.hp2 NA20905.hp2 HG03453.hp2 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0001t0001 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0158 a0001c0002t0001g0007 a0001c0003t0002g0030 a0001c0001t0001g0158 a0001c0002t0001g0007 a0001c0003t0002g0030	3	188	0.0160	-8	c.644 others(25): Show c.644-4912_644-4905delATATTTAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9260627	AAAACAAA others(1): Show AAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02630.hp1 others(9): Show HG02145.hp2 HG02257.hp1 HG02630.hp1 HG02647.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03486.hp1 HG04199.hp2 HG06807.hp1 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0158 a0001c0002t0001g0009 a0001c0002t0001g0037 others(9): Show a0001c0001t0001g0158 a0001c0002t0001g0009 a0001c0002t0001g0037 a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0042 a0001c0003t0001g0060 a0001c0003t0002g0030 a0001c0004t0002g0180 a0001c0005t0001g0184 a0001c0010t0001g0092	12	188	0.0638	-8	c.644 others(25): Show c.644-9990_644-9983delGTTTGTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9324124	TCTCACAC others(1): Show TCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02615.hp1 others(2): Show HG01891.hp1 HG02055.hp1 HG02615.hp1 HG02630.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0126 a0001c0002t0001g0035 a0001c0003t0001g0017 others(2): Show a0001c0001t0001g0126 a0001c0002t0001g0035 a0001c0003t0001g0017 a0001c0004t0001g0091 a0001c0004t0001g0095	5	188	0.0266	-8	c.643 others(27): Show c.643+54420_643+54427delTGTGTGAG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9324126	TCACACAC others(1): Show TCACACACA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18986.hp1 HG02132.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0112 a0001c0001t0001g0083 a0001c0001t0001g0112	2	188	0.0106	-8	c.643 others(27): Show c.643+54418_643+54425delTGTGTGTG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9329050	CAAAAAAA others(1): Show CAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02647.hp1 others(2): Show HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0126 a0001c0002t0001g0009 a0001c0002t0002g0025 others(2): Show a0001c0001t0001g0126 a0001c0002t0001g0009 a0001c0002t0002g0025 a0001c0003t0001g0046 a0001c0003t0002g0043	5	188	0.0266	-8	c.643 others(27): Show c.643+49494_643+49501delTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9516298	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19079.hp1 HG02630.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0002	a0001c0002t0001g0009 a0001c0004t0002g0081 a0001c0002t0001g0009 a0001c0004t0002g0081	2	188	0.0106	-8	c.324 others(27): Show c.324-11144_324-11137delATATATAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9529247	TAGAGAGA others(1): Show TAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00673.hp1 others(45): Show HG00323.hp2 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01981.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02897.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18948.hp2 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18986.hp2 NA19004.hp1 NA19007.hp2 NA19043.hp1 NA19079.hp2 NA19090.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0073 others(45): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0002g0074 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0147 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0061 a0001c0002t0002g0022 a0001c0003t0001g0019 a0001c0003t0002g0043 a0001c0004t0001g0095 a0001c0004t0001g0122 a0001c0004t0001g0144 a0001c0004t0001g0160 a0001c0004t0001g0175 a0001c0006t0001g0090 a0001c0007t0001g0157	48	188	0.2553	-8	c.323 others(27): Show c.323+15917_323+15924delCTCTCTCT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9534335	GAAACAAA others(1): Show GAAACAAAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02647.hp1 others(6): Show HG01243.hp1 HG02109.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02976.hp1 HG03098.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0002	a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0064 others(6): Show a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0064 a0001c0002t0002g0048 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0046 a0001c0003t0001g0050 a0001c0004t0002g0111	9	188	0.0479	-8	c.323 others(27): Show c.323+10829_323+10836delGTTTGTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9556788	TATATATA others(1): Show TATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0002 a0001c0002t0001 a0001c0008t0002	a0001c0002t0001g0070 a0001c0008t0002g0187 a0001c0002t0001g0070 a0001c0008t0002g0187	2	188	0.0106	-8	c.212 others(23): Show c.212+638_212+645delGTATATAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9563152	CATTTATT others(1): Show CATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02132.hp1 NA18986.hp2 others(1): Show HG02074.hp2 HG02132.hp1 NA18986.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0004t0001g0179	4	188	0.0213	-8	c.117 others(25): Show c.117+5211_117+5218delAAATAAAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP1_chr9_127607277_127697699	127611230	CAAAAAAA others(1): Show CAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02630.hp2 HG02818.hp2 others(6): Show HG00639.hp1 HG02630.hp2 HG02818.hp2 HG02896.hp1 HG03130.hp2 HG04199.hp2 HG06807.hp2 NA18952.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0042 a0001c0001t0001g0081 a0001c0001t0001g0098 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136	9	300	0.0300	-8	c.-11 others(19): Show c.-1173_-1166delAAAAAAAA	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding		1046		chr9	TogoVar
STXBP1_chr9_127607277_127697699	127624053	AATATATA others(1): Show AATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp1 HG03471.hp2 others(4): Show HG01496.hp2 HG01928.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 NA18962.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0185 a0001c0001t0001g0207 a0001c0001t0001g0258	7	300	0.0233	-8	c.37+ others(25): Show c.37+11654_37+11661delATATATAT	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP1_chr9_127607277_127697699	127650214	CTGTGTGT others(1): Show CTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp1 others(48): Show HG00280.hp2 HG00323.hp2 HG00639.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02965.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18962.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA19012.hp1 NA19043.hp1 NA19077.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(45): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0226 a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0291 a0001c0001t0007g0292 a0001c0001t0008g0158 a0001c0001t0010g0168 a0001c0002t0002g0116 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0005t0001g0039	51	300	0.1700	-8	c.38- others(23): Show c.38-1347_38-1340delGTGTGTGT	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP1_chr9_127607277_127697699	127653131	TTATTATT others(1): Show TTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp1 HG02165.hp2 others(7): Show HG02135.hp2 HG02155.hp1 HG02165.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp1 NA18971.hp2 NA18977.hp1 NA18992.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 others(7): Show a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0130	10	300	0.0333	-8	c.88- others(21): Show c.88-582_88-575delATTATTAT	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP2_chr19_7632110_7652873	7640050	TTGTGTGT others(1): Show TTGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02647.hp1 others(6): Show HG02257.hp1 HG02572.hp2 HG02647.hp1 HG02809.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0100 a0001c0003t0001g0101 others(1): Show a0001c0003t0001g0017 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102	9	428	0.0210	-8	c.246 others(23): Show c.246+254_246+261delTGTGTATG	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
STXBP3_chr1_108741674_108814523	108771892	CTATCTAT others(1): Show CTATCTATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297	3	334	0.0090	-8	c.439 others(23): Show c.439-768_439-761delTATATATC	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP4_chr17_54963765_55178632	54967031	TGCGCGCG others(1): Show TGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01993.hp1 HG02273.hp2 HG01928.hp1 HG01993.hp1 HG02273.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0004 a0002c0003t0016g0147 a0002c0003t0016g0004 a0002c0003t0016g0147	3	378	0.0079	-8	c.-19 others(19): Show c.-1940_-1933delGCGCGCGC	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding		1733		chr17	TogoVar
STXBP4_chr17_54963765_55178632	55047185	CGTGTGTG others(1): Show CGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02559.hp1 HG02615.hp1 others(3): Show HG02300.hp1 HG02559.hp1 HG02615.hp1 HG02818.hp2 HG02922.hp2 NA19081.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0008c0014	a0001c0001t0010 a0001c0001t0114 a0001c0002t0002 others(2): Show a0001c0001t0010 a0001c0001t0114 a0001c0002t0002 a0004c0007t0020 a0008c0014t0133	a0001c0001t0010g0314 a0001c0001t0114g0026 a0001c0002t0002g0036 others(3): Show a0001c0001t0010g0314 a0001c0001t0114g0026 a0001c0002t0002g0036 a0004c0007t0020g0009 a0004c0007t0020g0010 a0008c0014t0133g0008	6	378	0.0159	-8	c.101 others(23): Show c.1011+57_1011+64delTGTGTGTG	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55052916	CGTGTGTG others(1): Show CGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02630.hp2 others(2): Show HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02965.hp1 NA19043.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0008 a0001c0001 a0003c0004 a0007c0008	a0001c0001t0031 a0001c0001t0095 a0001c0001t0132 others(2): Show a0001c0001t0031 a0001c0001t0095 a0001c0001t0132 a0003c0004t0021 a0007c0008t0021	a0001c0001t0031g0269 a0001c0001t0095g0329 a0001c0001t0132g0268 others(2): Show a0001c0001t0031g0269 a0001c0001t0095g0329 a0001c0001t0132g0268 a0003c0004t0021g0331 a0007c0008t0021g0267	5	378	0.0132	-8	c.101 others(27): Show c.1011+5790_1011+5797delTGTGTGTG	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55090847	GTGTGTGT others(1): Show GTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp1 others(166): Show HG00099.hp1 HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0057 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0090 a0001c0001t0091 a0001c0001t0097 a0001c0001t0099 a0001c0001t0101 a0001c0001t0103 a0001c0001t0106 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0124 a0001c0001t0127 a0001c0001t0129 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0024 a0001c0002t0037 a0001c0002t0038 a0001c0002t0102 a0001c0002t0104 a0001c0002t0105 a0001c0002t0107 a0001c0002t0109 a0001c0002t0111 a0001c0002t0112 a0001c0002t0113 a0001c0002t0125 a0001c0002t0126 a0001c0002t0128 a0001c0005t0005 a0001c0009t0003 a0001c0011t0001 a0006c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0080 a0001c0001t0001g0082 others(164): Show a0001c0001t0001g0006 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0235 a0001c0001t0002g0168 a0001c0001t0007g0081 a0001c0001t0007g0083 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0162 a0001c0001t0007g0179 a0001c0001t0007g0181 a0001c0001t0007g0195 a0001c0001t0007g0196 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0217 a0001c0001t0007g0348 a0001c0001t0008g0338 a0001c0001t0009g0111 a0001c0001t0009g0112 a0001c0001t0012g0149 a0001c0001t0012g0228 a0001c0001t0012g0230 a0001c0001t0012g0231 a0001c0001t0012g0232 a0001c0001t0018g0221 a0001c0001t0018g0223 a0001c0001t0018g0224 a0001c0001t0018g0226 a0001c0001t0019g0013 a0001c0001t0019g0014 a0001c0001t0019g0015 a0001c0001t0029g0115 a0001c0001t0029g0116 a0001c0001t0032g0227 a0001c0001t0032g0229 a0001c0001t0035g0005 a0001c0001t0035g0167 a0001c0001t0036g0153 a0001c0001t0036g0154 a0001c0001t0057g0317 a0001c0001t0062g0246 a0001c0001t0063g0040 a0001c0001t0064g0016 a0001c0001t0090g0012 a0001c0001t0091g0225 a0001c0001t0097g0222 a0001c0001t0099g0021 a0001c0001t0101g0005 a0001c0001t0103g0157 a0001c0001t0106g0176 a0001c0001t0116g0287 a0001c0001t0117g0158 a0001c0001t0119g0148 a0001c0001t0120g0184 a0001c0001t0121g0190 a0001c0001t0122g0150 a0001c0001t0124g0177 a0001c0001t0127g0215 a0001c0001t0129g0161 a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0002g0002 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0090 a0001c0002t0002g0107 a0001c0002t0003g0069 a0001c0002t0005g0031 a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0078 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0093 a0001c0002t0005g0095 a0001c0002t0005g0096 a0001c0002t0005g0098 a0001c0002t0005g0099 a0001c0002t0005g0100 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0103 a0001c0002t0005g0104 a0001c0002t0005g0105 a0001c0002t0008g0038 a0001c0002t0024g0071 a0001c0002t0037g0047 a0001c0002t0037g0048 a0001c0002t0038g0073 a0001c0002t0038g0079 a0001c0002t0102g0056 a0001c0002t0104g0077 a0001c0002t0105g0092 a0001c0002t0107g0045 a0001c0002t0109g0060 a0001c0002t0111g0046 a0001c0002t0112g0086 a0001c0002t0113g0087 a0001c0002t0125g0042 a0001c0002t0126g0072 a0001c0002t0128g0057 a0001c0005t0005g0024 a0001c0005t0005g0025 a0001c0009t0003g0297 a0001c0011t0001g0156 a0006c0013t0001g0182	169	378	0.4471	-8	c.148 others(27): Show c.1489+9672_1489+9679delCTGTGTGT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55111895	GGTTTGTT others(1): Show GGTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG02132.hp1 others(16): Show HG00639.hp1 HG01169.hp1 HG02132.hp1 HG02602.hp2 HG02976.hp1 HG03704.hp2 HG04228.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18982.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0073 a0001c0001t0096 a0001c0002t0002 others(6): Show a0001c0001t0073 a0001c0001t0096 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0104 a0001c0002t0107 a0001c0002t0112	a0001c0001t0073g0259 a0001c0001t0096g0062 a0001c0002t0002g0002 others(15): Show a0001c0001t0073g0259 a0001c0001t0096g0062 a0001c0002t0002g0002 a0001c0002t0002g0035 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0004g0085 a0001c0002t0005g0031 a0001c0002t0008g0038 a0001c0002t0104g0077 a0001c0002t0107g0045 a0001c0002t0112g0086	19	378	0.0503	-8	c.149 others(29): Show c.1490-29386_1490-29379delGTTTGTTT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP4_chr17_54963765_55178632	55113217	CCACACAC others(1): Show CCACACACA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG02027.hp1 others(35): Show HG00621.hp2 HG01074.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02572.hp1 HG02615.hp1 HG02922.hp2 HG03225.hp1 HG04228.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18989.hp1 NA18992.hp1 NA19054.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0009c0015	a0001c0001t0001 a0001c0001t0129 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0129 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0037 a0001c0002t0038 a0001c0002t0102 a0001c0002t0107 a0001c0002t0108 a0001c0002t0109 a0001c0002t0111 a0001c0002t0125 a0001c0002t0128 a0004c0007t0020 a0009c0015t0011	a0001c0001t0001g0219 a0001c0001t0129g0161 a0001c0002t0001g0106 others(34): Show a0001c0001t0001g0219 a0001c0001t0129g0161 a0001c0002t0001g0106 a0001c0002t0002g0001 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0070 a0001c0002t0002g0107 a0001c0002t0008g0038 a0001c0002t0037g0047 a0001c0002t0037g0048 a0001c0002t0038g0079 a0001c0002t0102g0056 a0001c0002t0107g0045 a0001c0002t0108g0097 a0001c0002t0109g0060 a0001c0002t0111g0046 a0001c0002t0125g0042 a0001c0002t0128g0057 a0004c0007t0020g0009 a0004c0007t0020g0010 a0009c0015t0011g0023	38	378	0.1005	-8	c.149 others(29): Show c.1490-28055_1490-28048delACACACAC	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP5L_chr3_120903205_121429761	121241376	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(187): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0005 a0001c0006 others(8): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0010 a0006c0012 a0007c0007 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0005t0003 a0001c0006t0003 a0001c0008t0005 a0002c0002t0020 a0003c0003t0001 a0003c0003t0005 a0003c0003t0028 a0004c0004t0005 a0005c0010t0006 a0006c0012t0003 a0007c0007t0005 a0009c0011t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 others(187): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0028 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0216 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0195 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0290 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0007g0262 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0283 a0001c0001t0008g0027 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0009g0004 a0001c0001t0010g0064 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0012g0126 a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0015g0215 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0024g0052 a0001c0001t0025g0231 a0001c0001t0026g0265 a0001c0001t0027g0276 a0001c0001t0029g0170 a0001c0001t0030g0254 a0001c0001t0032g0191 a0001c0005t0003g0151 a0001c0005t0003g0152 a0001c0006t0003g0129 a0001c0006t0003g0183 a0001c0008t0005g0268 a0002c0002t0020g0158 a0003c0003t0001g0168 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0005g0199 a0003c0003t0028g0203 a0004c0004t0005g0270 a0004c0004t0005g0273 a0004c0004t0005g0274 a0004c0004t0005g0275 a0005c0010t0006g0236 a0006c0012t0003g0150 a0007c0007t0005g0269 a0009c0011t0001g0214	190	290	0.6552	-8	c.140 others(25): Show c.1400+896_1400+903delACACACAC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121283887	GTGTGTGC others(1): Show GTGTGTGCT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp2 HG03486.hp1 others(1): Show HG02809.hp2 HG03209.hp2 HG03486.hp1 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0017 a0001c0001t0031 a0007c0007t0005 a0001c0001t0017 a0001c0001t0031 a0007c0007t0005	a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0031g0286 others(1): Show a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0031g0286 a0007c0007t0005g0269	4	290	0.0138	-8	c.211 others(27): Show c.2110+3938_2110+3945delCTTGTGTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121297202	ATGTGTGT others(1): Show ATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(93): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01261.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp1 NA18957.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19078.hp1 NA19084.hp2 NA19085.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0009	a0001c0001 a0001c0005 a0001c0006 others(5): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0003c0003 a0005c0010 a0006c0012 a0009c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0005t0003 a0001c0006t0003 a0002c0002t0020 a0003c0003t0001 a0005c0010t0006 a0006c0012t0003 a0009c0011t0001	a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 others(93): Show a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0216 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0289 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0245 a0001c0001t0005g0195 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0024 a0001c0001t0015g0215 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0016g0019 a0001c0001t0016g0020 a0001c0001t0025g0231 a0001c0001t0029g0170 a0001c0001t0032g0191 a0001c0005t0003g0151 a0001c0005t0003g0152 a0001c0006t0003g0183 a0002c0002t0020g0158 a0003c0003t0001g0168 a0005c0010t0006g0236 a0006c0012t0003g0150 a0009c0011t0001g0214	96	290	0.3310	-8	c.211 others(29): Show c.2110+17277_2110+17284delTGTGTGTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121392770	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG01074.hp2 others(44): Show HG00323.hp2 HG00558.hp2 HG01074.hp2 HG01099.hp1 HG01884.hp1 HG01993.hp1 HG02109.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03710.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18966.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18991.hp1 NA18995.hp1 NA19002.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA19065.hp2 NA19078.hp1 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0006 a0003c0003 others(1): Show a0001c0001 a0001c0006 a0003c0003 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0029 a0001c0001t0030 a0001c0006t0003 a0003c0003t0001 a0006c0012t0003	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0139 others(44): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0216 a0001c0001t0003g0249 a0001c0001t0003g0256 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0004g0230 a0001c0001t0004g0233 a0001c0001t0009g0004 a0001c0001t0029g0170 a0001c0001t0030g0254 a0001c0006t0003g0129 a0001c0006t0003g0183 a0003c0003t0001g0168 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0198 a0006c0012t0003g0150	47	290	0.1621	-8	c.258 others(29): Show c.2587+11269_2587+11276delATATATAT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121416471	TTTTATTT others(1): Show TTTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(146): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0005 a0001c0006 others(7): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0003c0003 a0004c0004 a0005c0010 a0006c0012 a0007c0007 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0005t0003 a0001c0006t0003 a0001c0008t0005 a0003c0003t0005 a0003c0003t0013 a0004c0004t0005 a0005c0010t0006 a0006c0012t0003 a0007c0007t0005 a0009c0011t0001	a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0001g0134 others(146): Show a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0216 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0195 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0290 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0007g0262 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0283 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0010g0064 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0015g0215 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0022g0035 a0001c0001t0025g0231 a0001c0001t0026g0265 a0001c0001t0027g0276 a0001c0001t0029g0170 a0001c0001t0030g0254 a0001c0001t0031g0286 a0001c0001t0032g0191 a0001c0005t0003g0151 a0001c0005t0003g0152 a0001c0006t0003g0129 a0001c0006t0003g0183 a0001c0008t0005g0268 a0003c0003t0005g0199 a0003c0003t0013g0155 a0003c0003t0013g0166 a0003c0003t0013g0167 a0004c0004t0005g0270 a0004c0004t0005g0273 a0004c0004t0005g0274 a0004c0004t0005g0275 a0005c0010t0006g0236 a0006c0012t0003g0150 a0007c0007t0005g0269 a0009c0011t0001g0214	149	290	0.5138	-8	c.322 others(25): Show c.3226+534_3226+541delTATTTATT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147213430	ATATATGT others(1): Show ATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp1 NA18522.hp2 others(1): Show HG03130.hp2 HG03516.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0018 a0001c0001t0036 a0001c0004t0007 a0001c0001t0018 a0001c0001t0036 a0001c0004t0007	a0001c0001t0018g0336 a0001c0001t0018g0337 a0001c0001t0036g0169 others(1): Show a0001c0001t0018g0336 a0001c0001t0018g0337 a0001c0001t0036g0169 a0001c0004t0007g0341	4	350	0.0114	-8	c.248 others(25): Show c.248+7364_248+7371delATATGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213432	ATATGTGT others(1): Show ATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp2 others(25): Show HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG01496.hp2 HG01934.hp2 HG02129.hp2 HG02165.hp1 HG02451.hp2 HG02809.hp2 HG03471.hp2 HG06807.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp2 NA18980.hp1 NA18988.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19081.hp1 NA19091.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0011 a0007c0009 a0001c0001 a0001c0011 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0042 a0001c0011t0003 a0007c0009t0003	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0264 others(25): Show a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0264 a0001c0001t0003g0022 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0332 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0344 a0001c0001t0010g0312 a0001c0001t0010g0322 a0001c0001t0010g0323 a0001c0001t0010g0324 a0001c0001t0010g0327 a0001c0001t0010g0333 a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 a0001c0001t0011g0263 a0001c0001t0042g0321 a0001c0011t0003g0314 a0007c0009t0003g0319	28	350	0.0800	-8	c.248 others(25): Show c.248+7366_248+7373delATGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147310529	GTGATTGA others(1): Show GTGATTGAT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp2 HG02723.hp1 others(4): Show HG01255.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0009 a0002c0002t0002 a0001c0003t0009 a0002c0002t0002	a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(4): Show a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 a0001c0003t0009g0189 a0001c0003t0009g0190 a0001c0003t0009g0191 a0002c0002t0002g0114	7	350	0.0200	-8	c.107 others(25): Show c.1072+321_1072+328delGATTGATT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147314182	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show HG02055.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0024 others(1): Show a0001c0001t0005 a0001c0001t0023 a0001c0001t0024 a0001c0001t0043	a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0161 a0001c0001t0023g0018 a0001c0001t0024g0039 a0001c0001t0043g0037	10	350	0.0286	-8	c.129 others(23): Show c.1294-61_1294-54delACACACAC	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147380173	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(91): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19011.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19075.hp1 NA19077.hp2 NA19080.hp2 NA19083.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0003t0002 a0002c0002t0002 others(7): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0017 a0002c0002t0020 a0002c0002t0032 a0002c0002t0035 a0002c0002t0037 a0002c0014t0002	a0001c0001t0001g0293 a0001c0003t0002g0295 a0002c0002t0002g0025 others(91): Show a0001c0001t0001g0293 a0001c0003t0002g0295 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0056 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0171 a0002c0002t0002g0210 a0002c0002t0002g0213 a0002c0002t0002g0240 a0002c0002t0004g0061 a0002c0002t0004g0102 a0002c0002t0004g0109 a0002c0002t0004g0116 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0121 a0002c0002t0004g0129 a0002c0002t0017g0065 a0002c0002t0017g0089 a0002c0002t0017g0098 a0002c0002t0020g0072 a0002c0002t0020g0146 a0002c0002t0032g0113 a0002c0002t0035g0066 a0002c0002t0037g0135 a0002c0014t0002g0082	94	350	0.2686	-8	c.319 others(27): Show c.3194-2575_3194-2568delCACACACA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	AGTGTGTG others(1): Show AGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02647.hp2 others(3): Show HG01884.hp1 HG02615.hp2 HG02647.hp2 HG02922.hp2 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0021 a0001c0004t0007 a0001c0004t0021	a0001c0004t0007g0015 a0001c0004t0007g0016 a0001c0004t0007g0017 others(3): Show a0001c0004t0007g0015 a0001c0004t0007g0016 a0001c0004t0007g0017 a0001c0004t0007g0341 a0001c0004t0021g0047 a0001c0004t0021g0175	6	350	0.0171	-8	c.72 others(19): Show c.7263_*7270delGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP6_chr14_24804454_25055147	24839157	CTGTTCTG others(1): Show CTGTTCTGA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19030.hp2 NA20129.hp1 HG03139.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065	a0001c0001t0063g0144 a0001c0001t0064g0145 a0001c0001t0065g0143 a0001c0001t0063g0144 a0001c0001t0064g0145 a0001c0001t0065g0143	3	242	0.0124	-8	c.451 others(27): Show c.451+16771_451+16778delTCAGAACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	4/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24918452	CCACACAC others(1): Show CCACACACA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01074.hp1 others(7): Show HG00642.hp2 HG00735.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0031 a0001c0001t0035 others(5): Show a0001c0001t0019 a0001c0001t0031 a0001c0001t0035 a0001c0001t0053 a0001c0001t0073 a0001c0001t0079 a0001c0001t0080 a0001c0001t0087	a0001c0001t0019g0094 a0001c0001t0019g0121 a0001c0001t0031g0162 others(7): Show a0001c0001t0019g0094 a0001c0001t0019g0121 a0001c0001t0031g0162 a0001c0001t0035g0158 a0001c0001t0035g0164 a0001c0001t0053g0080 a0001c0001t0073g0029 a0001c0001t0079g0159 a0001c0001t0080g0168 a0001c0001t0087g0157	10	242	0.0413	-8	c.154 others(27): Show c.154+56205_154+56212delTGTGTGTG	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24962287	TTTTATTT others(1): Show TTTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00673.hp1 others(61): Show HG00140.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG02056.hp2 HG02145.hp1 HG02148.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp2 NA18947.hp1 NA18951.hp2 NA18955.hp1 NA18964.hp1 NA18977.hp2 NA18992.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19065.hp2 NA19072.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0064 a0001c0001t0066 a0001c0001t0071 a0001c0001t0074 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0107 a0001c0001t0111 a0001c0001t0114	a0001c0001t0001g0125 a0001c0001t0002g0022 a0001c0001t0003g0103 others(61): Show a0001c0001t0001g0125 a0001c0001t0002g0022 a0001c0001t0003g0103 a0001c0001t0004g0038 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0005g0105 a0001c0001t0007g0139 a0001c0001t0007g0150 a0001c0001t0008g0210 a0001c0001t0008g0217 a0001c0001t0008g0222 a0001c0001t0008g0229 a0001c0001t0009g0104 a0001c0001t0010g0035 a0001c0001t0015g0107 a0001c0001t0015g0112 a0001c0001t0016g0039 a0001c0001t0017g0095 a0001c0001t0020g0135 a0001c0001t0023g0212 a0001c0001t0024g0234 a0001c0001t0026g0030 a0001c0001t0028g0148 a0001c0001t0029g0141 a0001c0001t0030g0092 a0001c0001t0031g0160 a0001c0001t0031g0162 a0001c0001t0033g0156 a0001c0001t0033g0174 a0001c0001t0034g0152 a0001c0001t0034g0153 a0001c0001t0035g0158 a0001c0001t0035g0164 a0001c0001t0036g0155 a0001c0001t0037g0167 a0001c0001t0037g0171 a0001c0001t0038g0166 a0001c0001t0038g0185 a0001c0001t0040g0181 a0001c0001t0043g0214 a0001c0001t0043g0223 a0001c0001t0044g0225 a0001c0001t0064g0145 a0001c0001t0066g0147 a0001c0001t0071g0146 a0001c0001t0074g0108 a0001c0001t0076g0140 a0001c0001t0078g0154 a0001c0001t0079g0159 a0001c0001t0085g0172 a0001c0001t0086g0170 a0001c0001t0087g0157 a0001c0001t0088g0186 a0001c0001t0090g0184 a0001c0001t0091g0189 a0001c0001t0093g0173 a0001c0001t0094g0180 a0001c0001t0101g0205 a0001c0001t0102g0207 a0001c0001t0103g0228 a0001c0001t0107g0219 a0001c0001t0111g0215 a0001c0001t0114g0232	64	242	0.2645	-8	c.154 others(27): Show c.154+12370_154+12377delTAAATAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24973375	CTTCCTTT others(1): Show CTTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01070.hp1 others(25): Show HG00323.hp2 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01257.hp2 HG01934.hp1 HG01978.hp1 HG02056.hp1 HG02135.hp1 HG02451.hp1 HG02523.hp2 HG02622.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03453.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18960.hp1 NA18975.hp1 NA18981.hp1 NA18989.hp2 NA18998.hp2 NA19065.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0001c0001t0059 a0001c0001t0060 a0001c0001t0078 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0104 a0001c0001t0109 a0001c0001t0110	a0001c0001t0001g0053 a0001c0001t0002g0032 a0001c0001t0002g0054 others(25): Show a0001c0001t0001g0053 a0001c0001t0002g0032 a0001c0001t0002g0054 a0001c0001t0007g0139 a0001c0001t0007g0150 a0001c0001t0012g0191 a0001c0001t0012g0198 a0001c0001t0018g0151 a0001c0001t0023g0199 a0001c0001t0029g0141 a0001c0001t0034g0152 a0001c0001t0034g0153 a0001c0001t0036g0155 a0001c0001t0042g0192 a0001c0001t0045g0194 a0001c0001t0045g0195 a0001c0001t0047g0203 a0001c0001t0047g0204 a0001c0001t0059g0051 a0001c0001t0060g0052 a0001c0001t0078g0154 a0001c0001t0095g0200 a0001c0001t0096g0201 a0001c0001t0097g0202 a0001c0001t0099g0208 a0001c0001t0104g0196 a0001c0001t0109g0197 a0001c0001t0110g0193	28	242	0.1157	-8	c.154 others(25): Show c.154+1282_154+1289delAAAAGGAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	76026192	CAAAAAAA others(1): Show CAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01261.hp1 others(51): Show HG00140.hp1 HG00609.hp2 HG01261.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02145.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02683.hp2 HG02717.hp2 HG02922.hp1 HG03540.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp1 NA18944.hp2 NA18959.hp2 NA18965.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0168 a0001c0001t0001g0342 a0001c0001t0003g0004 others(51): Show a0001c0001t0001g0168 a0001c0001t0001g0342 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0003t0001g0246 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0254 a0001c0003t0001g0256 a0001c0003t0001g0258 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0270 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0300 a0001c0003t0001g0333 a0001c0003t0001g0347 a0002c0004t0001g0165 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0004t0001g0303 a0002c0004t0001g0306 a0002c0004t0001g0307 a0002c0004t0001g0308 a0002c0004t0001g0309 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0001g0314 a0002c0004t0001g0315 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0001g0323 a0002c0004t0001g0324 a0002c0004t0001g0325 a0002c0004t0001g0328 a0002c0004t0001g0329 a0002c0004t0001g0330 a0002c0004t0001g0331	54	356	0.1517	-8	c.165 others(25): Show c.165+2442_165+2449delTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	3/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046274	CTGTGTGT others(1): Show CTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp1 HG01496.hp2 others(1): Show HG01192.hp2 HG01433.hp1 HG01496.hp2 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0106 a0001c0003t0001g0172 a0001c0003t0001g0296 others(1): Show a0001c0002t0002g0106 a0001c0003t0001g0172 a0001c0003t0001g0296 a0001c0003t0001g0300	4	356	0.0112	-8	c.-5+ others(23): Show c.-5+1380_-5+1387delCACACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar

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