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
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02615.hp1 HG02723.hp2 others(4): Show HG01081.hp1 HG02615.hp1 HG02723.hp2 HG02886.hp1 HG03139.hp1 NA18968.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0036 a0001c0001t0001g0107 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0002g0108 a0001c0001t0011g0110	7	24	0.2917	-15	c.129 others(30): Show c.129+789_129+803delTTTTTTTTTTTTTTT	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2			chr18	TogoVar
SMIM29_chr6_34241395_34254006	34253481	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18976.hp1 NA18980.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0004g0023 a0001c0001t0005g0025 a0001c0002t0001g0018	225	352	0.6392	-15	c.-45 others(26): Show c.-4591_-4577delCTTTTTTTTTTTTTT	SMIM29	ENSG00000186577.14	transcript	ENST00000476320.6	protein_coding		4476		chr6	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(8): Show CCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 NA18951.hp1 NA19043.hp1 others(1): Show HG03098.hp2 NA18951.hp1 NA19043.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0111 a0001c0001t0003g0039	4	5	0.8000	-15	c.17 others(26): Show c.1771_*1785delCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164758801	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG00642.hp1 others(62): Show HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02258.hp1 HG02523.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02965.hp1 HG03669.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19060.hp1 NA19070.hp1 NA19075.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0035 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0034	a0001c0001t0001g0305 a0001c0001t0001g0312 a0001c0001t0001g0314 others(62): Show a0001c0001t0001g0305 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0355 a0001c0001t0002g0284 a0001c0001t0002g0304 a0001c0001t0002g0347 a0001c0001t0002g0362 a0001c0001t0003g0329 a0001c0001t0004g0205 a0001c0001t0004g0281 a0001c0001t0004g0348 a0001c0001t0005g0105 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0346 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0180 a0001c0001t0006g0182 a0001c0001t0006g0186 a0001c0001t0006g0188 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0008g0244 a0001c0001t0008g0267 a0001c0001t0009g0170 a0001c0001t0009g0179 a0001c0001t0009g0181 a0001c0001t0009g0187 a0001c0001t0009g0189 a0001c0001t0009g0199 a0001c0001t0010g0313 a0001c0001t0014g0176 a0001c0001t0014g0184 a0001c0001t0014g0195 a0001c0001t0015g0185 a0001c0001t0015g0191 a0001c0001t0015g0192 a0001c0001t0016g0167 a0001c0001t0016g0200 a0001c0001t0022g0162 a0001c0001t0035g0197 a0001c0002t0006g0165 a0001c0002t0006g0166 a0001c0002t0006g0169 a0001c0002t0006g0190 a0001c0002t0006g0193 a0001c0002t0006g0194 a0001c0002t0006g0201 a0001c0002t0006g0202 a0001c0002t0007g0115 a0001c0002t0008g0146 a0001c0002t0008g0148 a0001c0002t0008g0153 a0001c0002t0011g0149 a0001c0002t0016g0203 a0001c0002t0034g0183	65	74	0.8784	-15	c.-26 others(32): Show c.-26+4416_-26+4430delTTTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM36_chr17_55444856_55516452	55515086	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	223	0.0045	-15	c.-37 others(26): Show c.-3767_-3753delAAAAAAAAAAAAAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding		3635		chr17	TogoVar
SMIM7_chr19_16641148_16665144	16662957	CAGTTCCT others(8): Show CAGTTCCTTGGGCAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	358	0.0028	-15	c.-28 others(26): Show c.-2862_-2848delACTGCCCAAGGAACT	SMIM7	ENSG00000214046.9	transcript	ENST00000487416.7	protein_coding		2814		chr19	TogoVar
SMOC1_chr14_69874416_70037366	69981047	GAAGGAGA others(8): Show GAAGGAGAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0209 a0001c0001t0006g0209	1	268	0.0037	-15	c.526 others(32): Show c.526+3087_526+3101delAGAGGAGGAGAAAGG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168546135	GGAAGTTC others(8): Show GGAAGTTCATGACTTA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG03195.hp2 HG02559.hp1 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0168 a0001c0002t0002g0002 a0001c0002t0002g0035 a0001c0001t0001g0168 a0001c0002t0002g0002 a0001c0002t0002g0035	3	178	0.0169	-15	c.512 others(30): Show c.512-982_512-968delAAGTTCATGACTTAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168664384	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(48): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01256.hp1 HG01346.hp2 HG01516.hp1 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp2 HG02293.hp1 HG02602.hp2 HG02896.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18950.hp1 NA18960.hp2 NA18963.hp2 NA18971.hp1 NA18973.hp2 NA18990.hp1 NA18990.hp2 NA19012.hp1 NA19012.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(48): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0015g0163 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0066 a0001c0002t0008g0045 a0001c0002t0008g0047	51	64	0.7969	-15	c.132 others(32): Show c.1323+291_1323+305delTTTTTTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOX_chr20_4143828_4192727	4168881	CTCTATTT others(8): Show CTCTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	419	0.0024	-15	c.-26 others(32): Show c.-26-6147_-26-6133delCTATTTTATTTTATT	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMOX_chr20_4143828_4192727	4168883	CTATTTTA others(8): Show CTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00621.hp1 others(74): Show HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02155.hp1 HG02293.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18941.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp2 NA18972.hp2 NA18973.hp2 NA18994.hp2 NA19030.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0003c0014 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 a0003c0014t0001 a0004c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0044 others(68): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0279 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0347 a0001c0001t0001g0351 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0366 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0391 a0001c0002t0001g0003 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0075 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0129 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0161 a0001c0002t0001g0173 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0002t0001g0367 a0001c0002t0001g0376 a0001c0002t0002g0305 a0001c0002t0002g0355 a0001c0003t0001g0007 a0001c0003t0001g0022 a0001c0003t0001g0058 a0001c0003t0001g0146 a0001c0003t0001g0178 a0001c0003t0001g0210 a0001c0003t0001g0251 a0001c0003t0001g0318 a0001c0003t0001g0374 a0001c0003t0001g0382 a0001c0003t0001g0384 a0001c0003t0001g0387 a0001c0007t0001g0020 a0003c0014t0001g0219 a0004c0013t0001g0024	77	142	0.5423	-15	c.-26 others(32): Show c.-26-6093_-26-6079delTTTATTTTATTTTAT	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMO_chr7_129183633_129218545	129193786	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	2	403	0.0050	-15	c.331 others(32): Show c.331+4305_331+4319delTATATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMPD2_chr6_109435724_109448919	109437757	GTTGGCCA others(8): Show GTTGGCCAGGCTGGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	436	0.0023	-15	c.-33 others(26): Show c.-3364_-3350delTTGGCCAGGCTGGTC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		2966		chr6	TogoVar
SMPD3_chr16_68353327_68453508	68378827	GGAAGGTT others(8): Show GGAAGGTTAGGAACCT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	206	0.0049	-15	c.-20 others(34): Show c.-206-6455_-206-6441delAGGTTCCTAACCTTC	SMPD3	ENSG00000103056.12	transcript	ENST00000219334.10	protein_coding	2/8			chr16	TogoVar
SMPDL3A_chr6_122784258_122814720	122808636	TTCCTTCC others(8): Show TTCCTTCCCCCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	440	0.0023	-15	c.104 others(32): Show c.1045-451_1045-437delTTCCCCCCCTCCTCC	SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMS_chrX_21935709_21999837	21941884	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01074.hp1 others(16): Show HG00558.hp1 HG00621.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02080.hp2 HG02970.hp2 HG03704.hp1 NA18522.hp1 NA18988.hp1 NA18999.hp2 NA19002.hp2 NA19060.hp1 NA19066.hp1 NA19075.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001	a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0279 others(16): Show a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0003t0001g0219	19	65	0.2923	-15	c.49+ others(30): Show c.49+1036_49+1050delAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21995554	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	86	0.0116	-15	c.12 others(26): Show c.1204_*1218delAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding		718		chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 NA18747.hp1 HG01175.hp1 HG01175.hp2 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0264 a0001c0003t0002g0170 a0001c0003t0002g0253 a0001c0002t0001g0264 a0001c0003t0002g0170 a0001c0003t0002g0253	3	154	0.0195	-15	c.400 others(32): Show c.400-2391_400-2377delTTTTTTTTTTTTTTT	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMUG1_chr12_54175366_54193985	54188292	AATAAATA others(8): Show AATAAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0127 a0001c0001t0008g0127	1	435	0.0023	-15	c.-10 others(32): Show c.-103-405_-103-391delATTATTATTATTTAT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3			chr12	TogoVar
SMUG1_chr12_54175366_54193985	54188295	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03017.hp2 HG04228.hp2 HG02523.hp2 HG03017.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0006g0093 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0006g0093	3	300	0.0100	-15	c.-10 others(32): Show c.-103-408_-103-394delATTATTATTATTATT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99037970	CAGCTGCA others(8): Show CAGCTGCAAGTGCCTA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02895.hp1 others(3): Show HG02622.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0025 a0001c0001t0038 a0001c0001t0011 a0001c0001t0025 a0001c0001t0038	a0001c0001t0011g0120 a0001c0001t0011g0168 a0001c0001t0011g0171 others(3): Show a0001c0001t0011g0120 a0001c0001t0011g0168 a0001c0001t0011g0171 a0001c0001t0011g0172 a0001c0001t0025g0007 a0001c0001t0038g0238	6	262	0.0229	-15	c.168 others(32): Show c.1688+403_1688+417delTAGGCACTTGCAGCT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	14/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99037971	AGCTGCAA others(8): Show AGCTGCAAGTGCCTAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp1 HG02897.hp1 HG02258.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0019 a0001c0003t0005 a0001c0003t0019	a0001c0003t0005g0118 a0001c0003t0019g0257 a0001c0003t0019g0258 a0001c0003t0005g0118 a0001c0003t0019g0257 a0001c0003t0019g0258	3	262	0.0115	-15	c.168 others(32): Show c.1688+402_1688+416delCTAGGCACTTGCAGC	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	14/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99037974	TGCAAGTG others(8): Show TGCAAGTGCCTAGGCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0170 a0001c0001t0005g0170	1	262	0.0038	-15	c.168 others(32): Show c.1688+399_1688+413delGGCCTAGGCACTTGC	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	14/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99059397	CAAAAAAA others(8): Show CAAAAAAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19240.hp1 HG02486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0188 a0001c0001t0006g0189	2	254	0.0079	-15	c.203 others(32): Show c.203+1187_203+1201delATTTTATTTTTTTTT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	3/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99059402	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp1 others(59): Show HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG02027.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03516.hp1 HG03540.hp2 NA18944.hp2 NA18945.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18965.hp2 NA18966.hp2 NA18990.hp2 NA19000.hp2 NA19001.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19065.hp2 NA19070.hp2 NA19079.hp1 NA19082.hp2 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0038 a0001c0001t0044 a0001c0003t0005 a0001c0003t0019 a0001c0003t0022	a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0024 others(58): Show a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0052 a0001c0001t0004g0090 a0001c0001t0004g0093 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0141 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0190 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0033 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0114 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0131 a0001c0001t0005g0153 a0001c0001t0005g0164 a0001c0001t0005g0170 a0001c0001t0006g0046 a0001c0001t0006g0065 a0001c0001t0006g0105 a0001c0001t0006g0122 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0007g0199 a0001c0001t0007g0208 a0001c0001t0007g0216 a0001c0001t0007g0243 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0009g0031 a0001c0001t0009g0069 a0001c0001t0009g0091 a0001c0001t0009g0092 a0001c0001t0009g0174 a0001c0001t0010g0002 a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0038g0238 a0001c0001t0044g0260 a0001c0003t0005g0118 a0001c0003t0019g0257 a0001c0003t0019g0258 a0001c0003t0022g0004	62	116	0.5345	-15	c.203 others(32): Show c.203+1182_203+1196delATTTTATTTTATTTT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	3/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063240	TTTATATA others(8): Show TTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	260	0.0038	-15	c.56- others(30): Show c.56-1418_56-1404delTATATATATATATAA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99135330	TTCTCTCC others(8): Show TTCTCTCCTCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	262	0.0038	-15	c.55+ others(30): Show c.55+8381_55+8395delGGGAGAGAGGAGAGA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF2_chr17_64537282_64667307	64576873	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	73	0.0137	-15	c.857 others(32): Show c.857+1604_857+1618delAAAAAAAAAAAAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	9/18			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245810765	GAAAGACG others(8): Show GAAAGACGCACTTTTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(82): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18962.hp1 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0012 others(8): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0016 a0002c0017 a0003c0015 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0016t0001 a0002c0017t0001 a0003c0015t0002 a0005c0013t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(82): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0091 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0024 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0083 a0001c0012t0002g0057 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0001g0114 a0002c0003t0001g0121 a0002c0003t0001g0126 a0002c0003t0001g0136 a0002c0003t0002g0104 a0002c0003t0002g0110 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0129 a0002c0004t0001g0098 a0002c0004t0001g0128 a0002c0004t0001g0132 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0143 a0002c0004t0001g0146 a0002c0004t0002g0116 a0002c0005t0001g0119 a0002c0005t0002g0130 a0002c0005t0002g0133 a0002c0007t0001g0135 a0002c0007t0001g0141 a0002c0016t0001g0097 a0002c0017t0001g0139 a0003c0015t0002g0094 a0005c0013t0002g0050	85	150	0.5667	-15	c.107 others(36): Show c.1077-46631_1077-46617delGAAAAGTGCGTCTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246101064	GTTTTTTG others(8): Show GTTTTTTGTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19000.hp2 HG02965.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0046 a0002c0004t0001g0128 a0001c0001t0002g0046 a0002c0004t0001g0128	2	134	0.0149	-15	c.532 others(36): Show c.532-171142_532-171128delAAAAAAAACAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246101071	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp2 HG03130.hp2 others(1): Show HG02257.hp2 HG03098.hp2 HG03130.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0001 a0002c0003t0002 a0002c0004t0001 a0001c0002t0001 a0002c0003t0002 a0002c0004t0001	a0001c0002t0001g0070 a0002c0003t0002g0129 a0002c0004t0001g0117 others(1): Show a0001c0002t0001g0070 a0002c0003t0002g0129 a0002c0004t0001g0117 a0002c0004t0001g0149	4	122	0.0328	-15	c.532 others(36): Show c.532-171149_532-171135delAAAAAAAAAAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246225321	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(51): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA19000.hp1 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0005c0013t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0023 others(51): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0056 a0001c0002t0002g0010 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0048 a0001c0002t0002g0061 a0001c0006t0001g0081 a0001c0011t0002g0018 a0001c0012t0002g0057 a0001c0014t0002g0055 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0001g0148 a0002c0003t0002g0104 a0002c0003t0002g0110 a0002c0004t0001g0098 a0002c0004t0001g0138 a0002c0005t0001g0115 a0002c0007t0001g0135 a0002c0007t0001g0137 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0017t0001g0139 a0005c0013t0002g0050	54	67	0.8060	-15	c.531 others(36): Show c.531+101865_531+101879delTTTTTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246282305	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03017.hp2 HG02300.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0002g0016 a0001c0001t0001g0082 a0001c0001t0002g0016	2	9	0.2222	-15	c.531 others(34): Show c.531+44881_531+44895delTTTTTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246375325	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	7	0.1429	-15	c.165 others(34): Show c.165-20246_165-20232delAAAAAAAAAAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246391402	GAGAGAAA others(8): Show GAGAGAAAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG02145.hp2 others(3): Show HG00735.hp1 HG01243.hp2 HG02145.hp2 HG02622.hp2 HG02970.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0001c0001t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0002g0021 a0002c0003t0001g0108 a0002c0003t0001g0136 others(3): Show a0001c0001t0002g0021 a0002c0003t0001g0108 a0002c0003t0001g0136 a0002c0003t0002g0122 a0002c0003t0002g0124 a0002c0003t0002g0131	6	133	0.0451	-15	c.165 others(34): Show c.165-36323_165-36309delTCTCTCTCTTTCTCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246457544	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0101 a0002c0003t0001g0101	1	127	0.0079	-15	c.164 others(34): Show c.164+49495_164+49509delCTTTTCTTTTCTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1824605	ATTATTTT others(8): Show ATTATTTTATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20300.hp2 HG01496.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0327 a0002c0002t0002g0334 a0002c0002t0002g0327 a0002c0002t0002g0334	2	388	0.0052	-15	c.134 others(32): Show c.134+3241_134+3255delATATAAATAAAATAA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	2/10			chr17	TogoVar
SNAI3_chr16_88672688_88691507	88682762	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03130.hp1 HG03139.hp2 others(1): Show HG02257.hp1 HG03130.hp1 HG03139.hp2 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0053 a0003c0004t0006g0249 a0003c0004t0006g0250 a0003c0004t0006g0053 a0003c0004t0006g0249 a0003c0004t0006g0250	4	51	0.0784	-15	c.77- others(30): Show c.77-1063_77-1049delAAAAAAAAAAAAAAA	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	1/2			chr16	TogoVar
SNAP47_chr1_227730435_227786226	227751744	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01261.hp2 others(9): Show HG00733.hp1 HG00735.hp1 HG01261.hp2 HG01928.hp2 HG01934.hp1 HG02055.hp1 HG02818.hp2 HG03017.hp2 HG03486.hp2 HG03942.hp1 NA18975.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0001g0236 a0001c0001t0001g0278 others(9): Show a0001c0001t0001g0154 a0001c0001t0001g0236 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340	12	24	0.5000	-15	c.497 others(32): Show c.497+3534_497+3548delTTTTTTTTTTTTTTT	SNAP47	ENSG00000143740.15	transcript	ENST00000617596.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNAPC3_chr9_15417876_15466626	15420419	CAAAACAA others(8): Show CAAAACAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01346.hp1 others(9): Show HG00544.hp1 HG00735.hp2 HG01346.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG03195.hp1 HG03704.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018	a0001c0001t0004g0007 a0001c0001t0004g0156 a0001c0001t0004g0158 others(8): Show a0001c0001t0004g0007 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0010g0157 a0001c0001t0010g0159 a0001c0001t0018g0160	12	302	0.0397	-15	c.-24 others(26): Show c.-2460_-2446delAAAACAAAAAAAAAA	SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding		2456		chr9	TogoVar
SNAPC3_chr9_15417876_15466626	15463493	AGGGGTGG others(8): Show AGGGGTGGGGTGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19086.hp2 NA19066.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0125 a0001c0001t0001g0126	2	128	0.0156	-15	c.36 others(26): Show c.3628_*3642delGGGGTGGGGTGGGGT	SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding		1868		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136401260	GGACCACC others(8): Show GGACCACCCCACTTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0206 a0003c0003t0002g0206	1	378	0.0026	-15	c.-11 others(26): Show c.-1151_-1137delTGAAGTGGGGTGGTC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		1091		chr9	TogoVar
SNCA_chr4_89719099_89842161	89792291	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0016 a0001c0001t0018g0016	1	27	0.0370	-15	c.306 others(34): Show c.306+29940_306+29954delCAACAACAACAACAA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5			chr4	TogoVar
SNCB_chr5_176615082_176635534	176630658	CCGGCCGT others(8): Show CCGGCCGTAAGACTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	434	0.0023	-15	c.-40 others(24): Show c.-403_-389delCGAGTCTTACGGCCG	SNCB	ENSG00000074317.11	transcript	ENST00000393693.7	protein_coding		125		chr5	TogoVar
SND1_chr7_127647194_128097593	127985516	CCAGAGTG others(8): Show CCAGAGTGCTGGGATT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	260	0.0038	-15	c.167 others(34): Show c.1670-5430_1670-5416delCAGAGTGCTGGGATT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23			chr7	TogoVar
SND1_chr7_127647194_128097593	127994549	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01516.hp1 HG01517.hp1 others(2): Show HG01099.hp1 HG01516.hp1 HG01517.hp1 HG02970.hp2 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0003c0005t0001 a0001c0001t0001 a0001c0001t0003 a0003c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0003g0072 a0003c0005t0001g0181	5	37	0.1351	-15	c.177 others(34): Show c.1779+3515_1779+3529delAAAAAAAAAAAAAAA	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	241085860	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0021 a0021	a0021c0070 a0021c0070	a0021c0070t0019 a0021c0070t0019	a0021c0070t0019g0008 a0021c0070t0019g0008	1	164	0.0061	-15	c.412 others(34): Show c.4122-1522_4122-1508delTTTTTTTTTTTTTTT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	29/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNRK_chr3_43281540_43356143	43333358	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19064.hp2 NA18954.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0127 a0001c0001t0001g0128	2	38	0.0526	-15	c.731 others(32): Show c.731+1063_731+1077delAAAAAAAAAAAAAAA	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRNP25_chr16_48828_62669	52446	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	22	0.0455	-15	c.-15 others(26): Show c.-1570_-1556delAAAAAAAAAAAAAAA	SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding		1381		chr16	TogoVar
SNRNP40_chr1_31254568_31301788	31273423	CCTGAGGT others(8): Show CCTGAGGTCAGGAGTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG00642.hp2 others(51): Show HG00597.hp2 HG00621.hp2 HG00642.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG03239.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18952.hp2 NA18962.hp1 NA18970.hp1 NA18978.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp1 NA19012.hp2 NA19058.hp1 NA19066.hp2 NA19068.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0003 a0001c0002t0006	a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0021 others(43): Show a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0266 a0001c0001t0006g0020 a0001c0001t0006g0159 a0001c0001t0006g0161 a0001c0001t0006g0181 a0001c0001t0006g0265 a0001c0001t0010g0064 a0001c0001t0010g0065 a0001c0002t0003g0004 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0006g0038	54	352	0.1534	-15	c.655 others(32): Show c.655-1939_655-1925delAACTCCTGACCTCAG	SNRNP40	ENSG00000060688.13	transcript	ENST00000263694.9	protein_coding	5/9			chr1	TogoVar

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