Joint Open Genome and Omics Platform (JoGo)

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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
STRN3_chr14_30888804_31031379	30929954	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0230 a0001c0001t0016g0230	1	181	0.0055	15	c.989 others(30): Show c.989-658_989-644dupTTTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929968	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	362	0.0028	15	c.989 others(30): Show c.989-658_989-657insGTTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN4_chr19_46714511_46751450	46724249	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19067.hp2 NA19240.hp1 HG02809.hp2 NA19067.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0006 a0001c0001t0002 a0002c0003t0006	a0001c0001t0002g0028 a0002c0003t0006g0062 a0001c0001t0002g0028 a0002c0003t0006g0062	3	72	0.0417	15	c.159 others(32): Show c.1594+543_1594+557dupTTTTTTTTTTTTTTT	STRN4	ENSG00000090372.15	transcript	ENST00000263280.11	protein_coding	12/17			chr19	TogoVar
STRN_chr2_36832698_36971536	36941716	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0202 a0001c0001t0041g0202	1	261	0.0038	15	c.235 others(34): Show c.235-16523_235-16509dupAAAAAAAAAAAAAAA	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17			chr2	TogoVar
STRN_chr2_36832698_36971536	36948081	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0201 a0001c0001t0013g0201	1	30	0.0333	15	c.234 others(34): Show c.234+18134_234+18148dupAAAAAAAAAAAAAAA	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17			chr2	TogoVar
STUM_chr1_226543764_226614230	226589719	C C	CCAGGAAC others(8): Show CCAGGAACAGCATGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(175): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0002c0002t0036 a0003c0003t0020	a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0002g0042 others(144): Show a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0002g0042 a0001c0001t0002g0089 a0001c0001t0002g0108 a0001c0001t0002g0248 a0001c0001t0002g0258 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0061 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0147 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0171 a0001c0001t0003g0185 a0001c0001t0003g0265 a0001c0001t0003g0296 a0001c0001t0003g0301 a0001c0001t0004g0008 a0001c0001t0004g0012 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0027 a0001c0001t0004g0039 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0090 a0001c0001t0004g0107 a0001c0001t0004g0204 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0217 a0001c0001t0004g0220 a0001c0001t0004g0231 a0001c0001t0004g0239 a0001c0001t0004g0246 a0001c0001t0005g0188 a0001c0001t0006g0028 a0001c0001t0006g0034 a0001c0001t0006g0046 a0001c0001t0006g0148 a0001c0001t0006g0161 a0001c0001t0006g0250 a0001c0001t0006g0273 a0001c0001t0006g0279 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0007g0016 a0001c0001t0008g0003 a0001c0001t0008g0051 a0001c0001t0008g0103 a0001c0001t0008g0111 a0001c0001t0008g0123 a0001c0001t0010g0043 a0001c0001t0013g0045 a0001c0001t0013g0280 a0001c0001t0013g0286 a0001c0001t0013g0288 a0001c0001t0014g0285 a0001c0001t0016g0013 a0001c0001t0016g0099 a0001c0001t0016g0200 a0001c0001t0016g0225 a0001c0001t0018g0252 a0001c0001t0018g0253 a0001c0001t0018g0256 a0001c0001t0018g0303 a0001c0001t0019g0255 a0001c0001t0020g0029 a0001c0001t0020g0167 a0001c0001t0021g0292 a0001c0001t0021g0293 a0001c0001t0026g0168 a0001c0001t0026g0172 a0001c0001t0027g0032 a0001c0001t0027g0186 a0001c0001t0028g0232 a0001c0001t0028g0233 a0001c0001t0029g0004 a0001c0001t0030g0005 a0001c0001t0030g0120 a0001c0001t0031g0068 a0001c0001t0031g0069 a0001c0001t0035g0130 a0001c0001t0035g0187 a0001c0001t0036g0274 a0001c0001t0038g0249 a0001c0001t0048g0005 a0001c0001t0049g0101 a0001c0001t0050g0005 a0001c0001t0051g0284 a0001c0001t0052g0154 a0001c0001t0053g0163 a0001c0001t0054g0122 a0001c0001t0055g0115 a0001c0001t0056g0087 a0001c0001t0059g0277 a0001c0001t0060g0275 a0001c0001t0061g0083 a0001c0001t0062g0058 a0001c0001t0063g0254 a0001c0001t0064g0272 a0001c0001t0070g0155 a0001c0001t0073g0104 a0001c0001t0074g0170 a0002c0002t0036g0208 a0003c0003t0020g0029	178	400	0.4450	15	c.203 others(32): Show c.203-7078_203-7064dupAACAGCATGCGCAGG	STUM	ENSG00000203685.11	transcript	ENST00000366788.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX12_chr1_27768219_27829443	27799477	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG02055.hp2 others(6): Show HG00639.hp2 HG01106.hp2 HG02055.hp2 HG02647.hp1 HG02717.hp2 HG06807.hp1 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0027 a0001c0001t0003g0053 a0001c0001t0004g0004 others(3): Show a0001c0001t0003g0027 a0001c0001t0003g0053 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0045 a0001c0001t0004g0049	9	129	0.0698	15	c.289 others(32): Show c.289-2190_289-2189insTTTTTTTTTTTTTTT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX17_chr9_99901654_99979534	99904413	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00621.hp2 others(43): Show HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02080.hp1 HG02523.hp1 HG02698.hp2 HG02818.hp1 HG02922.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp2 NA18941.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18962.hp1 NA18975.hp1 NA18980.hp2 NA19001.hp1 NA19002.hp2 NA19030.hp2 NA19065.hp2 NA19077.hp1 NA19090.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0002c0002t0003	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 others(36): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0004g0005 a0001c0001t0004g0028 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0007g0050 a0001c0001t0017g0009 a0001c0001t0018g0126 a0001c0001t0020g0062 a0001c0001t0024g0078 a0001c0001t0025g0001 a0001c0001t0031g0122 a0002c0002t0003g0003 a0002c0002t0003g0095	46	64	0.7188	15	c.-23 others(26): Show c.-2356_-2355insTTTTTTTTTTTTTTT	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding		2240		chr9	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0067 a0003c0003t0003g0067	1	213	0.0047	15	c.205 others(32): Show c.205+3503_205+3504insATTTTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0069 a0003c0003t0003g0069	1	213	0.0047	15	c.205 others(32): Show c.205+3503_205+3504insATATTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0288 a0002c0002t0002g0288	1	213	0.0047	15	c.205 others(32): Show c.205+3503_205+3504insATATATATTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	213	0.0047	15	c.205 others(32): Show c.205+3503_205+3504insATATATATATATTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02559.hp2 NA20752.hp1 HG00738.hp1 HG02559.hp2 NA20752.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0004c0006t0013 a0002c0002t0002 a0004c0006t0013	a0002c0002t0002g0002 a0004c0006t0013g0111 a0002c0002t0002g0002 a0004c0006t0013g0111	3	215	0.0140	15	c.205 others(32): Show c.205+3503_205+3504insATATATATATATATA	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX3_chr11_59750376_59810878	59772974	A A	AAACACAC others(8): Show AAACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp2 HG01928.hp2 others(9): Show HG00733.hp2 HG01106.hp2 HG01928.hp2 HG01952.hp1 HG02148.hp1 HG03710.hp2 NA18939.hp1 NA18941.hp1 NA18961.hp1 NA18973.hp2 NA19055.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018	a0001c0001t0002g0007 a0001c0001t0002g0154 a0001c0001t0002g0159 others(7): Show a0001c0001t0002g0007 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0010g0167 a0001c0001t0016g0160 a0001c0001t0018g0161	12	82	0.1463	15	c.31- others(28): Show c.31-236_31-235insACACACACACACACA	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX3_chr11_59750376_59810878	59781100	T T	TTTTTTTT others(8): Show TTTTTTTTTTTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	167	0.0060	15	c.115 others(32): Show c.115-5936_115-5935insTTTTTTTTTATATAT	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX6_chr1_180967725_181027870	181001166	C C	CATTTGAT others(8): Show CATTTGATTTCAAATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19084.hp2 NA18986.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0288 a0001c0002t0002g0305 a0001c0002t0002g0288 a0001c0002t0002g0305	2	348	0.0057	15	c.300 others(32): Show c.300+1439_300+1440insTATTTGAAATCAAAT	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding	3/7			chr1	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02148.hp2 HG00438.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0066 a0001c0001t0004g0069 a0001c0001t0001g0066 a0001c0001t0004g0069	2	259	0.0077	15	c.-37 others(24): Show c.-378_-377insAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar
STX7_chr6_132440867_132518116	132490965	G G	GCAGCACA others(8): Show GCAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00639.hp1 others(45): Show HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00673.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02683.hp2 HG02735.hp1 HG02965.hp2 HG03195.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03942.hp2 HG04184.hp2 NA18944.hp1 NA18953.hp2 NA18959.hp2 NA18982.hp1 NA18983.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA19079.hp2 NA19083.hp1 NA19088.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(19): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0052 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0081 a0001c0001t0110 a0001c0001t0118	a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0004g0032 others(39): Show a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0004g0032 a0001c0001t0004g0034 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0328 a0001c0001t0004g0331 a0001c0001t0005g0037 a0001c0001t0005g0154 a0001c0001t0005g0197 a0001c0001t0006g0097 a0001c0001t0006g0325 a0001c0001t0009g0005 a0001c0001t0009g0019 a0001c0001t0009g0130 a0001c0001t0009g0143 a0001c0001t0009g0145 a0001c0001t0015g0138 a0001c0001t0017g0096 a0001c0001t0017g0106 a0001c0001t0018g0020 a0001c0001t0018g0146 a0001c0001t0018g0147 a0001c0001t0020g0120 a0001c0001t0022g0118 a0001c0001t0032g0195 a0001c0001t0033g0127 a0001c0001t0036g0308 a0001c0001t0036g0313 a0001c0001t0052g0277 a0001c0001t0056g0110 a0001c0001t0057g0149 a0001c0001t0059g0330 a0001c0001t0060g0309 a0001c0001t0063g0148 a0001c0001t0081g0290 a0001c0001t0110g0144 a0001c0001t0118g0129	48	192	0.2500	15	c.85+ others(32): Show c.85+12466_85+12480dupTGCTGTGCTGTGCTG	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	2/9			chr6	TogoVar
STX8_chr17_9245471_9580820	9253207	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	67	0.0149	15	c.644 others(32): Show c.644-2563_644-2562insACACACACACACACA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9274678	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	122	0.0082	15	c.644 others(34): Show c.644-24048_644-24034dupATTATTATTATTATT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9503105	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0185 a0001c0005t0001g0185	1	9	0.1111	15	c.448 others(32): Show c.448+1918_448+1932dupTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03130.hp1 HG03831.hp1 HG02735.hp2 HG03130.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0087 a0001c0002t0001g0012 a0001c0002t0002g0002 a0001c0001t0002g0087 a0001c0002t0001g0012 a0001c0002t0002g0002	3	11	0.2727	15	c.448 others(28): Show c.448+50_448+64dupTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9506412	C C	CGCCCCCG others(8): Show CGCCCCCGCGCCCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG03225.hp1 others(2): Show HG02922.hp2 HG03041.hp2 HG03225.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0010t0001	a0001c0002t0001g0070 a0001c0004t0001g0123 a0001c0005t0001g0182 others(2): Show a0001c0002t0001g0070 a0001c0004t0001g0123 a0001c0005t0001g0182 a0001c0005t0001g0184 a0001c0010t0001g0092	5	184	0.0272	15	c.324 others(32): Show c.324-1251_324-1250insTGGGGGCGCGGGGGC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9527185	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04228.hp2 HG03453.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0002 a0001c0002t0001 a0001c0008t0002	a0001c0002t0001g0020 a0001c0008t0002g0187 a0001c0002t0001g0020 a0001c0008t0002g0187	2	3	0.6667	15	c.323 others(34): Show c.323+17972_323+17986dupTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	116	0.0086	15	c.213 others(32): Show c.213-1309_213-1308insAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18966.hp2 NA18982.hp1 others(4): Show HG01891.hp1 NA18966.hp2 NA18982.hp1 NA19004.hp1 NA19004.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 others(4): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0091	7	13	0.5385	15	c.118 others(32): Show c.118-2233_118-2232insAAATATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG00741.hp1 others(17): Show HG00558.hp2 HG00673.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01258.hp2 HG01981.hp2 HG02132.hp1 HG02683.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp2 NA18948.hp2 NA18971.hp2 NA18986.hp1 NA18986.hp2 NA19007.hp2 NA19079.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001	a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0141 others(17): Show a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0002g0133 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0176 a0001c0004t0001g0084 a0001c0004t0001g0175 a0001c0004t0002g0079 a0001c0004t0002g0088 a0001c0004t0002g0145 a0001c0007t0001g0086 a0001c0007t0001g0157	20	26	0.7692	15	c.118 others(32): Show c.118-2233_118-2232insAAAAATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01515.hp2 others(11): Show HG01192.hp2 HG01243.hp2 HG01515.hp2 HG01517.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp2 HG02922.hp2 HG03017.hp1 HG03225.hp1 HG03704.hp1 NA19043.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0002 a0001c0010t0001	a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0122 others(11): Show a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0002g0093 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0004t0001g0095 a0001c0004t0001g0123 a0001c0004t0002g0132 a0001c0006t0002g0138 a0001c0006t0002g0139 a0001c0010t0001g0092	14	20	0.7000	15	c.118 others(32): Show c.118-2233_118-2232insAAAAAAATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18971.hp1 HG01255.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0098 a0001c0001t0001g0104 a0001c0001t0002g0098	2	8	0.2500	15	c.118 others(32): Show c.118-2233_118-2232insAAAAAAAAATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP2_chr19_7632110_7652873	7643917	A A	AGAGGTAG others(8): Show AGAGGTAGGAGCTGGG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0058 a0001c0014t0001g0058	1	428	0.0023	15	c.110 others(32): Show c.1107+673_1108-682dupGAGGTAGGAGCTGGG	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
STXBP2_chr19_7632110_7652873	7650203	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0019 a0001c0007t0003g0019	1	197	0.0051	15	c.23 others(26): Show c.2393_*2394insAAAAAAAAAAAAAAA	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding		2331		chr19	TogoVar
STXBP3_chr1_108741674_108814523	108756610	A A	ATTTTCAT others(8): Show ATTTTCATATTATTAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	332	0.0030	15	c.182 others(28): Show c.182-80_182-79insTTTTCATATTATTAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	3/18			chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771647	T T	TATATAAA others(8): Show TATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02698.hp1 HG02717.hp2 others(6): Show HG00609.hp2 HG02698.hp1 HG02717.hp2 HG02965.hp1 NA18966.hp2 NA18967.hp1 NA19004.hp2 NA19084.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0214 a0001c0002t0001g0220 a0001c0002t0001g0232 others(6): Show a0001c0002t0001g0214 a0001c0002t0001g0220 a0001c0002t0001g0232 a0001c0002t0001g0267 a0001c0002t0001g0285 a0002c0003t0001g0222 a0002c0003t0001g0244 a0002c0003t0001g0248 a0002c0003t0001g0249	9	302	0.0298	15	c.439 others(32): Show c.439-1013_439-1012insAATATATATGATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771683	T T	TATATAAA others(8): Show TATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00639.hp1 others(56): Show HG00408.hp2 HG00438.hp1 HG00639.hp1 HG00673.hp2 HG01099.hp1 HG01243.hp1 HG01891.hp1 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp2 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA19000.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0159 a0001c0002t0001g0003 a0001c0002t0001g0012 others(51): Show a0001c0001t0001g0159 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0234 a0001c0002t0001g0242 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0004g0209 a0002c0003t0001g0231 a0002c0003t0001g0233 a0002c0003t0001g0245 a0002c0003t0001g0247 a0002c0003t0001g0260 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0310	59	329	0.1793	15	c.439 others(30): Show c.439-980_439-979insATAAATATATATGAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771719	T T	TATATAAA others(8): Show TATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03195.hp2 HG03209.hp1 others(3): Show HG02135.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0002t0001g0253	6	314	0.0191	15	c.439 others(30): Show c.439-944_439-943insATAAATATATATGAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5L_chr3_120903205_121429761	121173323	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02165.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG02165.hp2 HG02615.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0024	a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0005g0033 a0001c0001t0010g0068 a0001c0001t0024g0052	7	26	0.2692	15	c.877 others(34): Show c.877+15711_877+15725dupAATAATAATAATAAT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147273195	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02559.hp2 HG02647.hp1 others(11): Show HG02027.hp1 HG02559.hp2 HG02647.hp1 HG03471.hp1 HG03516.hp1 NA18939.hp1 NA18949.hp1 NA18950.hp2 NA18969.hp2 NA18974.hp1 NA18983.hp2 NA18985.hp2 NA19065.hp1 NA19075.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0007 a0001c0007t0019 a0003c0005t0015	a0001c0001t0001g0054 a0001c0001t0003g0021 a0001c0001t0003g0022 others(11): Show a0001c0001t0001g0054 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0307 a0001c0001t0003g0339 a0001c0004t0007g0341 a0001c0007t0019g0308 a0003c0005t0015g0179 a0003c0005t0015g0182	14	135	0.1037	15	c.715 others(32): Show c.715-4873_715-4872insAAAAAAAAAAAAAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP6_chr14_24804454_25055147	24882378	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02257.hp2 HG02148.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0049 a0001c0001t0022g0063 a0001c0001t0001g0049 a0001c0001t0022g0063	2	10	0.2000	15	c.155 others(34): Show c.155-25236_155-25222dupTTTTTTTTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24931132	A A	AAACAAAA others(8): Show AAACAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0180 a0001c0001t0094g0180	1	240	0.0042	15	c.154 others(34): Show c.154+43532_154+43533insGTTTGTTTTTTTGTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24931134	A A	AAAAAAAA others(8): Show AAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0043	1	175	0.0057	15	c.154 others(34): Show c.154+43530_154+43531insGTTTTTGTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24931134	A A	ACAAAAAA others(8): Show ACAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03209.hp1 NA20905.hp1 HG02735.hp1 HG03209.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0031 a0001c0001t0001 a0001c0001t0028 a0001c0001t0031	a0001c0001t0001g0067 a0001c0001t0028g0062 a0001c0001t0031g0160 a0001c0001t0001g0067 a0001c0001t0028g0062 a0001c0001t0031g0160	3	177	0.0169	15	c.154 others(34): Show c.154+43530_154+43531insGTTTTTGTTTTTTTG	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24945139	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	37	0.0270	15	c.154 others(34): Show c.154+29511_154+29525dupAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0026 a0004c0007t0004g0026	1	13	0.0769	15	c.307 others(32): Show c.307+3970_308-3980dupTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76042390	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	22	0.0455	15	c.-5+ others(30): Show c.-5+5257_-5+5271dupAAAAAAAAAAAAAAA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL2_chr1_167089075_167134165	167114794	T T	TTGTCTTG others(8): Show TTGTCTTGCTCCAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02572.hp2 others(3): Show HG01891.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG03225.hp1 NA19240.hp1	a0002 a0003 a0018 a0002 a0003 a0018	a0002c0015 a0003c0003 a0018c0026 a0002c0015 a0003c0003 a0018c0026	a0002c0015t0003 a0003c0003t0002 a0018c0026t0002 a0002c0015t0003 a0003c0003t0002 a0018c0026t0002	a0002c0015t0003g0207 a0002c0015t0003g0208 a0003c0003t0002g0209 others(3): Show a0002c0015t0003g0207 a0002c0015t0003g0208 a0003c0003t0002g0209 a0003c0003t0002g0211 a0003c0003t0002g0212 a0018c0026t0002g0210	6	360	0.0167	15	c.205 others(31): Show c.205+992_205+1006dupGTCTTGCTCCAAGAT	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUB1_chr5_32580557_32609079	32590762	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01934.hp2 HG01952.hp1 others(10): Show HG01123.hp1 HG01934.hp2 HG01952.hp1 HG02738.hp1 HG02738.hp2 HG03516.hp2 HG03688.hp1 HG04115.hp2 NA18963.hp2 NA18972.hp1 NA18975.hp1 NA19001.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0023 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023	a0001c0001t0002g0019 a0001c0001t0002g0042 a0001c0001t0002g0140 others(5): Show a0001c0001t0002g0019 a0001c0001t0002g0042 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0176 a0001c0001t0005g0130 a0001c0001t0023g0142	13	95	0.1368	15	c.73- others(28): Show c.73-792_73-778dupTTTTTTTTTTTTTTT	SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19043.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0220 a0001c0001t0018g0279 a0001c0001t0001g0220 a0001c0001t0018g0279	2	36	0.0556	15	c.106 others(36): Show c.1063-21637_1063-21623dupTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67626025	T T	TATATATA others(8): Show TATATATATATATACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	256	0.0039	15	c.85- others(32): Show c.85-16430_85-16429insTGTATATATATATAT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	1/10			chr3	TogoVar
SUGCT_chr7_40130005_40865763	40236442	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	2	0.5000	15	c.485 others(32): Show c.485-1190_485-1176dupAAAAAAAAAAAAAAA	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40415061	A A	ATCTATCT others(8): Show ATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp1 HG01069.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0007 a0001c0001t0001g0008	2	5	0.4000	15	c.817 others(34): Show c.817-34226_817-34225insTCTATCTATCTATCT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	9/13			chr7	TogoVar

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