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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG03130.hp1 HG02258.hp2 HG02622.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295	3	122	0.0246	13	c.150 others(32): Show c.1502-1564_1502-1552dupTTTTTTTTTTTTT		SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
SLN_chr11_107702378_107717056	107714500	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01123.hp1 HG01123.hp2 others(25): Show HG00609.hp1 HG01123.hp1 HG01123.hp2 HG01496.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02735.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03225.hp2 NA18949.hp1 NA18961.hp2 NA18973.hp2 NA19004.hp1 NA19010.hp2 NA19078.hp2 NA19079.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020	28	355	0.0789	13	c.-26 others(24): Show c.-2614_-2613insTTTTTTTTTTTTT		SLN	ENSG00000170290.4	transcript	ENST00000305991.3	protein_coding					2445		chr11	TogoVar
SLTM_chr15_58874050_58938679	58875334	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG03098.hp2 others(1): Show HG02572.hp1 HG02717.hp2 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0006 a0001c0001t0001g0236 a0001c0004t0004g0360 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0236 a0001c0004t0004g0360 a0001c0004t0004g0361	4	29	0.1379	13	c.46 others(24): Show c.4664_*4665insTTTTTTTTTTTTT		SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding					3715		chr15	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18977.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0005 a0001c0001 a0001c0009 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0009t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(150): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0266 a0001c0001t0002g0293 a0001c0001t0002g0347 a0001c0001t0002g0354 a0001c0001t0003g0003 a0001c0001t0003g0149 a0001c0001t0005g0131 a0001c0009t0001g0258 a0003c0005t0001g0043	165	195	0.8462	13	c.299 others(32): Show c.2996+1444_2996+1445insTTTTTTTTTTTTT		SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20						chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10518555	C C	CTTCTTTC others(6): Show CTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp1 HG02809.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0092 a0001c0001t0018g0093 a0001c0001t0018g0092 a0001c0001t0018g0093	2	264	0.0076	13	c.28- others(30): Show c.28-37660_28-37648dupCTTTCTTTCTTTT		SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4_chr16_3576181_3616606	3582662	C C	CAAATGCC others(6): Show CAAATGCCGCTCCA	frameshift_variant frameshift_variant	HIGH	NA18956.hp2 NA18956.hp2	a0036 a0036	a0036c0046 a0036c0046	a0036c0046t0001 a0036c0046t0001	a0036c0046t0001g0177 a0036c0046t0001g0177	1	394	0.0025	13	c.517 others(22): Show c.5172_5184dupTGGAGCGGCATTT	p.Glu others(6): Show p.Glu1729fs	SLX4	ENSG00000188827.12	transcript	ENST00000294008.4	protein_coding	15/15	5833/7315	5184/5505	1728/1834			chr16	TogoVar
SLX4_chr16_3576181_3616606	3613908	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0006 a0007c0008t0006	a0007c0008t0006g0068 a0007c0008t0006g0068	1	254	0.0039	13	c.-29 others(24): Show c.-2964_-2952dupAAAAAAAAAAAAA		SLX4	ENSG00000188827.12	transcript	ENST00000294008.4	protein_coding					2303		chr16	TogoVar
SLX9_chr21_44935029_44981973	44978530	C C	CGTGTGGT others(6): Show CGTGTGGTGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	167	0.0060	13	c.17 others(24): Show c.1727_*1728insGTGTGGTGGCGGG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					1558		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978539	C C	CGGGTGTG others(6): Show CGGGTGTGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	331	0.0030	13	c.17 others(24): Show c.1736_*1737insGGGTGTGGGGGCG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					1567		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47813711	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp2 NA18994.hp2 NA19005.hp1 others(1): Show NA18942.hp2 NA18994.hp2 NA19005.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0130 a0001c0001t0133 others(1): Show a0001c0001t0129 a0001c0001t0130 a0001c0001t0133 a0001c0001t0147	a0001c0001t0129g0203 a0001c0001t0130g0178 a0001c0001t0133g0187 others(1): Show a0001c0001t0129g0203 a0001c0001t0130g0178 a0001c0001t0133g0187 a0001c0001t0147g0115	4	9	0.4444	13	c.28 others(26): Show c.28103_*28115dupAAAAAAAAAAAAA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11				28115		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATAATAT others(6): Show TATAATATATTATA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0285 a0001c0001t0074g0285	1	191	0.0052	13	c.784 others(28): Show c.784+456_784+457insTATAATATATTAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(6): Show TATTATATATTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(80): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA19003.hp2 NA19009.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(62): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0038 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0073 a0001c0001t0079 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0135 a0001c0001t0138 a0001c0001t0140 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0148 a0001c0001t0173 a0001c0001t0181 a0001c0001t0247	a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0252 others(80): Show a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0005g0262 a0001c0001t0005g0269 a0001c0001t0005g0286 a0001c0001t0013g0221 a0001c0001t0013g0229 a0001c0001t0015g0246 a0001c0001t0015g0268 a0001c0001t0016g0266 a0001c0001t0016g0292 a0001c0001t0017g0199 a0001c0001t0017g0289 a0001c0001t0018g0176 a0001c0001t0018g0272 a0001c0001t0019g0116 a0001c0001t0021g0113 a0001c0001t0021g0205 a0001c0001t0023g0202 a0001c0001t0023g0207 a0001c0001t0025g0189 a0001c0001t0025g0190 a0001c0001t0038g0264 a0001c0001t0045g0248 a0001c0001t0046g0249 a0001c0001t0049g0251 a0001c0001t0050g0241 a0001c0001t0051g0194 a0001c0001t0052g0217 a0001c0001t0073g0290 a0001c0001t0079g0237 a0001c0001t0081g0270 a0001c0001t0083g0274 a0001c0001t0085g0240 a0001c0001t0086g0257 a0001c0001t0087g0196 a0001c0001t0088g0198 a0001c0001t0089g0243 a0001c0001t0090g0263 a0001c0001t0091g0297 a0001c0001t0092g0201 a0001c0001t0093g0280 a0001c0001t0094g0261 a0001c0001t0095g0250 a0001c0001t0096g0288 a0001c0001t0097g0247 a0001c0001t0098g0279 a0001c0001t0099g0238 a0001c0001t0100g0295 a0001c0001t0101g0177 a0001c0001t0102g0277 a0001c0001t0103g0255 a0001c0001t0104g0117 a0001c0001t0105g0211 a0001c0001t0106g0236 a0001c0001t0107g0227 a0001c0001t0108g0239 a0001c0001t0110g0253 a0001c0001t0111g0226 a0001c0001t0112g0005 a0001c0001t0113g0175 a0001c0001t0114g0228 a0001c0001t0117g0215 a0001c0001t0118g0298 a0001c0001t0120g0192 a0001c0001t0135g0267 a0001c0001t0138g0188 a0001c0001t0140g0291 a0001c0001t0143g0200 a0001c0001t0144g0287 a0001c0001t0145g0242 a0001c0001t0146g0278 a0001c0001t0148g0191 a0001c0001t0173g0283 a0001c0001t0181g0097 a0001c0001t0247g0308	83	273	0.3040	13	c.784 others(28): Show c.784+456_784+457insTATAATATATAAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(6): Show TATTATATATTATG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0225 a0001c0001t0121g0225	1	191	0.0052	13	c.784 others(28): Show c.784+456_784+457insCATAATATATAAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(6): Show TATTATATATTTTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18906.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0123 a0001c0001t0072 a0001c0001t0123	a0001c0001t0072g0216 a0001c0001t0123g0301 a0001c0001t0072g0216 a0001c0001t0123g0301	2	192	0.0104	13	c.784 others(28): Show c.784+456_784+457insTAAAATATATAAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18944.hp2 NA18960.hp2 others(1): Show HG03927.hp2 NA18944.hp2 NA18960.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0080 a0001c0001t0112 others(1): Show a0001c0001t0079 a0001c0001t0080 a0001c0001t0112 a0001c0001t0138	a0001c0001t0079g0237 a0001c0001t0080g0254 a0001c0001t0112g0005 others(1): Show a0001c0001t0079g0237 a0001c0001t0080g0254 a0001c0001t0112g0005 a0001c0001t0138g0188	4	43	0.0930	13	c.237 others(32): Show c.237-11490_237-11478dupAAAAAAAAAAAAA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10						chr18	TogoVar
SMAD3_chr15_67060602_67200169	67177422	G G	GTTTTGTT others(6): Show GTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0119 a0001c0001t0059g0119	1	2	0.5000	13	c.659 others(30): Show c.659-3815_659-3814insGTTTTTTTTTTTT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67177422	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00642.hp1 others(49): Show HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp2 HG01515.hp2 HG01978.hp2 HG02280.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18977.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19066.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025 a0001c0001t0028 a0001c0001t0038 a0001c0001t0043 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0024 a0001c0002t0033	a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0112 others(49): Show a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0273 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0002g0171 a0001c0001t0003g0122 a0001c0001t0003g0135 a0001c0001t0003g0170 a0001c0001t0003g0290 a0001c0001t0004g0007 a0001c0001t0004g0091 a0001c0001t0004g0107 a0001c0001t0004g0151 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0219 a0001c0001t0004g0292 a0001c0001t0004g0307 a0001c0001t0005g0024 a0001c0001t0005g0033 a0001c0001t0006g0050 a0001c0001t0006g0071 a0001c0001t0007g0189 a0001c0001t0007g0232 a0001c0001t0008g0044 a0001c0001t0008g0046 a0001c0001t0012g0026 a0001c0001t0012g0027 a0001c0001t0014g0160 a0001c0001t0025g0165 a0001c0001t0025g0166 a0001c0001t0028g0287 a0001c0001t0038g0070 a0001c0001t0043g0272 a0001c0001t0053g0080 a0001c0002t0001g0102 a0001c0002t0002g0299 a0001c0002t0003g0125 a0001c0002t0003g0136 a0001c0002t0011g0103 a0001c0002t0024g0243 a0001c0002t0033g0126	52	53	0.9811	13	c.659 others(30): Show c.659-3818_659-3806dupTTTTTTTTTTTTT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182996	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0217 a0001c0001t0016g0217	1	272	0.0037	13	c.871 others(30): Show c.871+1543_871+1544insTATATATATATAT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8						chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183000	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18962.hp2 HG02559.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0004 a0001c0001t0013 a0001c0002t0004	a0001c0001t0013g0090 a0001c0002t0004g0291 a0001c0001t0013g0090 a0001c0002t0004g0291	2	174	0.0115	13	c.871 others(30): Show c.871+1548_871+1549insATATATATATATA		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01167.hp1 others(12): Show HG00140.hp1 HG00733.hp1 HG01167.hp1 HG02257.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG03453.hp2 HG03516.hp1 NA18965.hp1 NA19058.hp1 NA19081.hp2 NA19086.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 others(10): Show a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0035 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0032g0071	15	127	0.1181	13	c.60 others(24): Show c.6016_*6017insAAAAAAAAAAAAA		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding					764		chr5	TogoVar
SMAD5_chr5_136127845_136187733	136183612	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0078 a0001c0001t0016g0078	1	107	0.0093	13	c.61 others(24): Show c.6132_*6133insTTTTTTTTTTTTT		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding					880		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66702436	G G	GAGGGGGG others(6): Show GAGGGGGGGCGACC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0174 a0001c0001t0017g0174	1	333	0.0030	13	c.-82 others(22): Show c.-822_-810dupAGGGGGGGCGACC		SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	1/4				809	INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAGP_chr12_51239558_51275415	51252683	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18985.hp1 NA18994.hp2 others(2): Show NA18950.hp2 NA18985.hp1 NA18994.hp2 NA19064.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0014 a0001c0002t0005 a0001c0002t0014	a0001c0002t0005g0044 a0001c0002t0005g0050 a0001c0002t0005g0052 others(2): Show a0001c0002t0005g0044 a0001c0002t0005g0050 a0001c0002t0005g0052 a0001c0002t0005g0055 a0001c0002t0014g0059	5	384	0.0130	13	c.35- others(28): Show c.35-5853_35-5852insGGGGGGGGGGGGG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAGP_chr12_51239558_51275415	51270771	C C	CGTGAAGC others(6): Show CGTGAAGCAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02895.hp2 HG02897.hp2 others(4): Show HG02145.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 others(4): Show a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0003g0260 a0001c0001t0008g0259	7	408	0.0172	13	c.-56 others(22): Show c.-567_-555dupCTCCCTGCTTCAC		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding					357		chr12	TogoVar
SMAP1_chr6_70662883_70867003	70729459	T T	TTAAGAAG others(6): Show TTAAGAAGGTTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18939.hp1 NA19088.hp1 HG02015.hp2 NA18939.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0016 a0002c0002t0001 a0002c0002t0016	a0002c0002t0001g0028 a0002c0002t0001g0033 a0002c0002t0016g0026 a0002c0002t0001g0028 a0002c0002t0001g0033 a0002c0002t0016g0026	3	68	0.0441	13	c.119 others(30): Show c.119-2918_119-2917insAAGAAGGTTGTGT		SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA1_chrX_129441506_129528490	129504549	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03579.hp1 HG02129.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0088 a0001c0001t0002g0050 a0001c0001t0001g0088 a0001c0001t0002g0050	2	78	0.0256	13	c.116 others(30): Show c.1167+172_1167+184dupTTTTTTTTTTTTT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24						chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2088879	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00639.hp2 others(55): Show HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01256.hp1 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG01981.hp1 HG02074.hp2 HG02135.hp2 HG02165.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03195.hp1 HG03516.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18953.hp2 NA18960.hp2 NA18962.hp1 NA18970.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0014	a0001c0001 a0001c0003 a0001c0008 others(21): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0016 a0002c0002 a0002c0004 a0002c0027 a0002c0047 a0002c0048 a0003c0006 a0003c0007 a0003c0012 a0003c0029 a0003c0030 a0004c0011 a0004c0017 a0004c0024 a0004c0026 a0004c0049 a0006c0019 a0009c0062 a0009c0063 a0014c0065	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0002 a0001c0003t0011 a0001c0008t0002 a0001c0009t0001 a0001c0016t0001 a0001c0016t0012 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0027t0001 a0002c0047t0001 a0002c0048t0001 a0003c0006t0001 a0003c0006t0002 a0003c0007t0002 a0003c0012t0001 a0003c0029t0001 a0003c0030t0001 a0004c0011t0001 a0004c0011t0017 a0004c0017t0003 a0004c0024t0001 a0004c0026t0003 a0004c0049t0001 a0006c0019t0001 a0006c0019t0002 a0009c0062t0002 a0009c0063t0006 a0014c0065t0001	a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0111 others(55): Show a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0213 a0001c0001t0002g0294 a0001c0001t0013g0316 a0001c0003t0002g0277 a0001c0003t0011g0266 a0001c0008t0002g0116 a0001c0008t0002g0227 a0001c0009t0001g0002 a0001c0009t0001g0041 a0001c0009t0001g0042 a0001c0009t0001g0243 a0001c0016t0001g0281 a0001c0016t0001g0282 a0001c0016t0012g0283 a0002c0002t0001g0010 a0002c0002t0001g0142 a0002c0002t0001g0169 a0002c0002t0002g0117 a0002c0002t0002g0208 a0002c0002t0002g0218 a0002c0002t0002g0289 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0004t0001g0043 a0002c0004t0001g0050 a0002c0004t0001g0053 a0002c0004t0001g0055 a0002c0027t0001g0309 a0002c0047t0001g0141 a0002c0048t0001g0253 a0003c0006t0001g0185 a0003c0006t0002g0215 a0003c0007t0002g0273 a0003c0012t0001g0263 a0003c0029t0001g0315 a0003c0030t0001g0284 a0004c0011t0001g0180 a0004c0011t0017g0129 a0004c0017t0003g0131 a0004c0024t0001g0049 a0004c0024t0001g0052 a0004c0026t0003g0256 a0004c0049t0001g0122 a0006c0019t0001g0014 a0006c0019t0002g0302 a0009c0062t0002g0272 a0009c0063t0006g0280 a0014c0065t0001g0140	58	229	0.2533	13	c.288 others(30): Show c.2883+269_2883+281dupTTTTTTTTTTTTT		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	19/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2155720	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	37	0.0270	13	c.398 others(32): Show c.3982-5940_3982-5928dupTTTTTTTTTTTTT		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	10974690	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0003 a0001c0009t0001g0003	1	245	0.0041	13	c.-31 others(30): Show c.-31-9431_-31-9430insATATATATATATA		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	1/34						chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94293256	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0055 a0001c0004t0005g0055	1	28	0.0357	13	c.37 others(24): Show c.3722_*3723insGTGTGTGTGTGTG		SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding					1965		chr4	TogoVar
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(13): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG01175.hp2 HG01255.hp1 HG01517.hp1 HG02027.hp2 HG02300.hp1 HG03704.hp2 NA18951.hp2 NA18970.hp1 NA18981.hp2 NA19056.hp1 NA19070.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0041 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0041 a0001c0002t0003	a0001c0001t0001g0281 a0001c0001t0006g0007 a0001c0001t0006g0086 others(13): Show a0001c0001t0001g0281 a0001c0001t0006g0007 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0041g0007 a0001c0002t0003g0015 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0268 a0001c0002t0003g0270 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0277 a0001c0002t0003g0280 a0001c0002t0003g0284	16	75	0.2133	13	c.363 others(30): Show c.363-1254_363-1242dupTTTTTTTTTTTTT		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23839391	A A	AGGGCGGG others(6): Show AGGGCGGGGCGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(110): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02027.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0049 a0001c0002t0003 a0001c0002t0043	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 others(105): Show a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0077 a0001c0001t0004g0110 a0001c0001t0005g0027 a0001c0001t0005g0038 a0001c0001t0005g0221 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0240 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0337 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0065 a0001c0001t0006g0069 a0001c0001t0011g0013 a0001c0001t0011g0222 a0001c0001t0011g0227 a0001c0001t0011g0237 a0001c0001t0011g0238 a0001c0001t0011g0241 a0001c0001t0011g0244 a0001c0001t0012g0004 a0001c0001t0012g0248 a0001c0001t0012g0250 a0001c0001t0012g0251 a0001c0001t0012g0252 a0001c0001t0012g0253 a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0013g0033 a0001c0001t0014g0016 a0001c0001t0014g0296 a0001c0001t0014g0297 a0001c0001t0014g0298 a0001c0001t0017g0005 a0001c0001t0020g0039 a0001c0001t0020g0041 a0001c0001t0035g0040 a0001c0001t0036g0042 a0001c0001t0037g0226 a0001c0001t0049g0034 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0043g0262	113	355	0.3183	13	c.52 others(24): Show c.5211_*5212insGGGCGGGGCGCGT		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding					1383		chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00597.hp2 others(24): Show HG00099.hp2 HG00544.hp1 HG00597.hp2 HG00735.hp2 HG00741.hp2 HG01123.hp2 HG01943.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp2 HG02723.hp2 HG03098.hp1 HG03540.hp2 HG03834.hp1 NA18522.hp2 NA18952.hp2 NA18961.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19065.hp1 NA19082.hp1 NA19086.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0002g0217 a0001c0007t0001g0056 a0002c0003t0001g0207	27	137	0.1971	13	c.184 others(30): Show c.1840-469_1840-457dupTTTTTTTTTTTTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG04184.hp1 others(2): Show HG00099.hp1 HG00597.hp1 HG04184.hp1 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0105 a0001c0001t0002g0125 a0001c0001t0002g0127 others(2): Show a0001c0001t0002g0105 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0146 a0001c0001t0012g0136	5	124	0.0403	13	c.184 others(30): Show c.1840-480_1840-479insGTTTTTTTTTTTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671197	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	211	0.0047	13	c.184 others(30): Show c.1840-481_1840-480insGTTTTTTTTTTTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47726061	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00673.hp1 others(34): Show HG00099.hp1 HG00280.hp2 HG00673.hp1 HG00733.hp2 HG01099.hp1 HG01255.hp1 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02055.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02698.hp1 HG03239.hp1 HG03516.hp2 HG03710.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18998.hp1 NA19007.hp2 NA19012.hp1 NA19065.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0008 a0001c0001 a0001c0002 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0006c0008t0002	a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0002g0087 others(34): Show a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0002t0002g0091 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0110 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0118 a0006c0008t0002g0086	37	145	0.2552	13	c.646 others(30): Show c.646+2951_646+2963dupTTTTTTTTTTTTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	6/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47779249	T T	TAAAAATA others(6): Show TAAAAATAAATAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	218	0.0046	13	c.195 others(30): Show c.195+2341_195+2353dupTTTATTTATTTTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	1/27						chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 NA18940.hp1 HG02486.hp1 HG02922.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0001t0002 a0001c0002t0008	a0001c0001t0002g0164 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0001t0002g0164 a0001c0002t0008g0096 a0001c0002t0008g0097	3	12	0.2500	13	c.242 others(30): Show c.2420+685_2420+697dupTTTTTTTTTTTTT		SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24						chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02717.hp1 HG03209.hp1 others(1): Show HG01934.hp1 HG02717.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0002 a0001c0001t0004g0098 a0001c0001t0004g0099	4	75	0.0533	13	c.125 others(30): Show c.1254+822_1254+834dupTTTTTTTTTTTTT		SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24						chrX	TogoVar
SMC1B_chr22_45339063_45418599	45353893	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00741.hp2 HG01069.hp2 others(12): Show HG00597.hp1 HG00741.hp2 HG01069.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02135.hp2 HG02735.hp1 HG03704.hp1 HG04228.hp2 NA18747.hp2 NA19070.hp1	a0002 a0002	a0002c0001 a0002c0019 a0002c0001 a0002c0019	a0002c0001t0002 a0002c0019t0002 a0002c0001t0002 a0002c0019t0002	a0002c0001t0002g0071 a0002c0001t0002g0074 a0002c0001t0002g0086 others(12): Show a0002c0001t0002g0071 a0002c0001t0002g0074 a0002c0001t0002g0086 a0002c0001t0002g0089 a0002c0001t0002g0090 a0002c0001t0002g0091 a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0096 a0002c0001t0002g0109 a0002c0001t0002g0112 a0002c0001t0002g0131 a0002c0001t0002g0140 a0002c0001t0002g0142 a0002c0019t0002g0121	15	83	0.1807	13	c.327 others(28): Show c.3273+72_3273+84dupTTTTTTTTTTTTT		SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24						chr22	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18983.hp2 NA18988.hp2 others(1): Show NA18957.hp1 NA18983.hp2 NA18988.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0146 a0001c0001t0002g0002 a0001c0001t0002g0146	4	23	0.1739	13	c.29 others(24): Show c.2990_*2991insAAAAAAAAAAAAA		SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding					1245		chr10	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01192.hp1 others(18): Show HG00280.hp1 HG00558.hp1 HG01192.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG02155.hp2 HG02523.hp2 HG02698.hp1 HG03453.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18950.hp2 NA18979.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19007.hp2 NA19063.hp1 NA19076.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0002 a0001c0004 a0002c0006 others(4): Show a0001c0002 a0001c0004 a0002c0006 a0003c0003 a0005c0013 a0005c0014 a0013c0019	a0001c0002t0001 a0001c0004t0001 a0001c0004t0003 others(5): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0003 a0002c0006t0001 a0003c0003t0003 a0005c0013t0003 a0005c0014t0003 a0013c0019t0003	a0001c0002t0001g0109 a0001c0002t0001g0333 a0001c0004t0001g0056 others(18): Show a0001c0002t0001g0109 a0001c0002t0001g0333 a0001c0004t0001g0056 a0001c0004t0001g0059 a0001c0004t0001g0085 a0001c0004t0001g0097 a0001c0004t0003g0089 a0002c0006t0001g0126 a0003c0003t0003g0066 a0003c0003t0003g0087 a0003c0003t0003g0100 a0003c0003t0003g0102 a0003c0003t0003g0142 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0152 a0005c0013t0003g0090 a0005c0013t0003g0113 a0005c0014t0003g0086 a0005c0014t0003g0088 a0013c0019t0003g0074	21	38	0.5526	13	c.638 others(30): Show c.638+5342_638+5354dupAAAAAAAAAAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(6): Show TATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG06807.hp2 HG02717.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0034 a0001c0005t0004g0243 a0001c0005t0004g0245 a0001c0005t0004g0034 a0001c0005t0004g0243 a0001c0005t0004g0245	3	68	0.0441	13	c.226 others(30): Show c.2260+988_2260+989insTATATATATAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708908	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03579.hp1 NA18522.hp2 others(1): Show HG01106.hp1 HG03579.hp1 NA18522.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0189 a0001c0002t0001g0200 a0001c0002t0001g0201 others(1): Show a0001c0002t0001g0189 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0002g0176	4	293	0.0137	13	c.226 others(30): Show c.2260+988_2260+989insTATATATATATAT		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47						chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748342	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0024 a0001c0005t0004g0024	1	242	0.0041	13	c.392 others(30): Show c.3927+695_3927+696insGTGTGTGTGTGTG		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47						chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0137 a0002c0006t0015g0137	1	213	0.0047	13	c.572 others(32): Show c.5720-2290_5720-2278dupAAAAAAAAAAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196515986	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	393	0.0025	13	c.-77 others(22): Show c.-778_-777insATATATATATATA		SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding					641		chr3	TogoVar
SMCO1_chr3_196501879_196520346	196517104	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA19030.hp1 HG03209.hp2 NA19030.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0010 a0004c0004 a0008c0010	a0004c0004t0003 a0008c0010t0007 a0004c0004t0003 a0008c0010t0007	a0004c0004t0003g0043 a0008c0010t0007g0076 a0004c0004t0003g0043 a0008c0010t0007g0076	2	117	0.0171	13	c.-18 others(24): Show c.-1896_-1895insTTTTTTTTTTTTT		SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding					1759		chr3	TogoVar
SMCO2_chr12_27441736_27507185	27464716	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp2 HG02976.hp2 HG03195.hp2	a0002 a0003 a0002 a0003	a0002c0012 a0003c0009 a0002c0012 a0003c0009	a0002c0012t0001 a0003c0009t0005 a0002c0012t0001 a0003c0009t0005	a0002c0012t0001g0039 a0003c0009t0005g0040 a0002c0012t0001g0039 a0003c0009t0005g0040	2	266	0.0075	13	c.-10 others(30): Show c.-10-5895_-10-5883dupAAAAAAAAAAAAA		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
SMG6_chr17_2054843_2308785	2066694	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	276	0.0036	13	c.383 others(32): Show c.3836-1016_3836-1015insTGTGTGTGTGTGT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	16/18						chr17	TogoVar

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