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
SMAD9_chr13_36839831_36925238	36896109	GTATTTAT others(5): Show GTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00639.hp1 others(45): Show HG00140.hp1 HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp2 HG02074.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG03490.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 NA18940.hp2 NA18945.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18974.hp2 NA18991.hp1 NA18992.hp1 NA19002.hp2 NA19030.hp2 NA19054.hp2 NA19075.hp2 NA19077.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0044 a0001c0001t0046 a0001c0001t0074 a0001c0001t0087 a0001c0001t0090 a0001c0001t0095 a0001c0001t0097 a0001c0004t0061 a0001c0004t0100 a0002c0003t0001	a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 others(45): Show a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0342 a0001c0001t0002g0021 a0001c0001t0005g0092 a0001c0001t0006g0226 a0001c0001t0006g0234 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0008g0264 a0001c0001t0010g0231 a0001c0001t0010g0248 a0001c0001t0010g0251 a0001c0001t0010g0262 a0001c0001t0013g0239 a0001c0001t0013g0240 a0001c0001t0013g0341 a0001c0001t0016g0241 a0001c0001t0032g0260 a0001c0001t0032g0261 a0001c0001t0033g0254 a0001c0001t0033g0338 a0001c0001t0033g0339 a0001c0001t0034g0246 a0001c0001t0044g0337 a0001c0001t0046g0004 a0001c0001t0074g0168 a0001c0001t0087g0238 a0001c0001t0090g0340 a0001c0001t0095g0228 a0001c0001t0097g0233 a0001c0004t0061g0090 a0001c0004t0100g0269 a0002c0003t0001g0255	48	358	0.1341	-12	c.-18 others(33): Show c.-186-16246_-186-16235delAATAAATAAATA	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36900684	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG02145.hp2 others(7): Show HG01106.hp1 HG01243.hp2 HG02145.hp2 HG02559.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp1 HG02976.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0022 a0001c0001t0031 others(3): Show a0001c0001t0014 a0001c0001t0022 a0001c0001t0031 a0001c0001t0039 a0001c0001t0059 a0001c0001t0085	a0001c0001t0014g0201 a0001c0001t0022g0156 a0001c0001t0022g0163 others(7): Show a0001c0001t0014g0201 a0001c0001t0022g0156 a0001c0001t0022g0163 a0001c0001t0031g0221 a0001c0001t0031g0222 a0001c0001t0031g0224 a0001c0001t0039g0088 a0001c0001t0039g0089 a0001c0001t0059g0087 a0001c0001t0085g0223	10	358	0.0279	-12	c.-18 others(33): Show c.-187+19420_-187+19431delGTGTGTGTGTGT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36905774	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02145.hp1 HG01975.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0091 a0001c0004t0100 a0001c0001t0091 a0001c0004t0100	a0001c0001t0091g0344 a0001c0004t0100g0269 a0001c0001t0091g0344 a0001c0004t0100g0269	2	358	0.0056	-12	c.-18 others(33): Show c.-187+14330_-187+14341delTTTTTTTTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAGP_chr12_51239558_51275415	51241566	CCAGTGCG others(5): Show CCAGTGCGTGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0023 a0001c0001t0019 a0001c0001t0023	a0001c0001t0019g0191 a0001c0001t0019g0192 a0001c0001t0023g0193 a0001c0001t0019g0191 a0001c0001t0019g0192 a0001c0001t0023g0193	3	410	0.0073	-12	c.43 others(23): Show c.4363_*4374delTCCCACGCACTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding		2991		chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248426	ACACACAC others(5): Show ACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	410	0.0024	-12	c.35- others(27): Show c.35-1607_35-1596delAGAGTGTGTGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248430	ACACACTC others(5): Show ACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03041.hp2 HG03704.hp1 HG01192.hp2 HG03041.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0002g0324 a0001c0001t0004g0079 a0001c0001t0011g0179 a0001c0001t0002g0324 a0001c0001t0004g0079 a0001c0001t0011g0179	3	410	0.0073	-12	c.35- others(27): Show c.35-1611_35-1600delAGAGAGAGTGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248432	ACACTCTC others(5): Show ACACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02602.hp2 HG02970.hp2 others(5): Show HG01123.hp2 HG02602.hp2 HG02970.hp2 HG03195.hp2 HG03540.hp2 NA18522.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0053 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0180	8	410	0.0195	-12	c.35- others(27): Show c.35-1613_35-1602delAGAGAGAGAGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248434	ACTCTCTC others(5): Show ACTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02630.hp2 HG02723.hp1 others(3): Show HG01433.hp2 HG02630.hp2 HG02723.hp1 HG04115.hp1 HG04228.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031	a0001c0001t0001g0151 a0001c0001t0001g0172 a0001c0001t0002g0218 others(3): Show a0001c0001t0001g0151 a0001c0001t0001g0172 a0001c0001t0002g0218 a0001c0001t0026g0127 a0001c0001t0027g0155 a0001c0001t0031g0222	6	410	0.0146	-12	c.35- others(27): Show c.35-1615_35-1604delAGAGAGAGAGAG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248898	CACAAAAA others(5): Show CACAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0307 a0001c0002t0013g0307	1	410	0.0024	-12	c.35- others(27): Show c.35-2079_35-2068delTTTTTTTTTTGT	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248900	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00673.hp2 others(11): Show HG00544.hp2 HG00558.hp2 HG00673.hp2 HG01433.hp2 HG01952.hp2 HG01981.hp2 HG02132.hp2 HG03225.hp2 HG03239.hp1 HG03688.hp2 NA18612.hp1 NA18994.hp1 NA19076.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0094 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0002g0219 a0001c0001t0002g0236 a0001c0001t0002g0375	14	410	0.0342	-12	c.35- others(27): Show c.35-2081_35-2070delTTTTTTTTTTTT	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAP1_chr6_70662883_70867003	70682170	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp1 others(16): Show HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00673.hp2 HG01952.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02273.hp2 NA18747.hp1 NA18951.hp1 NA18951.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18994.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0002c0002t0021 others(1): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0021 a0002c0002t0022	a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0264 others(16): Show a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0264 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0291 a0001c0001t0004g0295 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0288 a0002c0002t0021g0275 a0002c0002t0022g0235	19	306	0.0621	-12	c.118 others(31): Show c.118+14054_118+14065delTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70684189	TTGTCATC others(5): Show TTGTCATCTGCAG	T T	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	306	0.0033	-12	c.118 others(31): Show c.118+16052_118+16063delCATCTGCAGTGT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70725093	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	306	0.0033	-12	c.119 others(29): Show c.119-7255_119-7244delTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70855050	TCATATAC others(5): Show TCATATACATATA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02818.hp1 HG03209.hp1 others(2): Show HG02738.hp2 HG02818.hp1 HG03209.hp1 HG04204.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0010g0110	5	306	0.0163	-12	c.790 others(29): Show c.790-1759_790-1748delATATACATATAC	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70858287	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	306	0.0033	-12	c.126 others(27): Show c.1269+75_1269+86delTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA2_chr9_2010347_2198620	2082306	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	316	0.0032	-12	c.234 others(29): Show c.2348+345_2348+356delTGTGTGTGTGTG	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	15/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2084370	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(70): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02486.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG03516.hp1 HG03927.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0014 a0015	a0001c0001 a0001c0003 a0001c0008 others(17): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0016 a0001c0042 a0002c0002 a0002c0004 a0002c0023 a0002c0047 a0003c0006 a0003c0007 a0003c0029 a0003c0030 a0004c0011 a0004c0024 a0006c0019 a0008c0067 a0014c0065 a0015c0057	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0008t0002 a0001c0009t0001 a0001c0016t0001 a0001c0016t0012 a0001c0042t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0023t0001 a0002c0047t0001 a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 a0003c0029t0001 a0003c0030t0001 a0004c0011t0001 a0004c0011t0017 a0004c0024t0001 a0006c0019t0001 a0006c0019t0002 a0008c0067t0001 a0014c0065t0001 a0015c0057t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0082 others(70): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0035 a0001c0001t0002g0213 a0001c0001t0002g0294 a0001c0001t0013g0316 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0132 a0001c0003t0001g0154 a0001c0003t0002g0217 a0001c0008t0002g0116 a0001c0008t0002g0227 a0001c0009t0001g0002 a0001c0009t0001g0034 a0001c0009t0001g0041 a0001c0009t0001g0042 a0001c0009t0001g0243 a0001c0016t0001g0281 a0001c0016t0001g0282 a0001c0016t0012g0283 a0001c0042t0001g0044 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0142 a0002c0002t0001g0170 a0002c0002t0001g0205 a0002c0002t0002g0117 a0002c0002t0002g0208 a0002c0002t0002g0218 a0002c0002t0002g0289 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0004t0001g0037 a0002c0004t0001g0043 a0002c0004t0001g0050 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0063 a0002c0004t0001g0065 a0002c0023t0001g0285 a0002c0047t0001g0141 a0003c0006t0001g0186 a0003c0006t0001g0202 a0003c0006t0001g0233 a0003c0006t0002g0215 a0003c0007t0001g0094 a0003c0029t0001g0315 a0003c0030t0001g0284 a0004c0011t0001g0181 a0004c0011t0017g0129 a0004c0024t0001g0049 a0004c0024t0001g0052 a0006c0019t0001g0014 a0006c0019t0002g0302 a0008c0067t0001g0027 a0014c0065t0001g0140 a0015c0057t0001g0171	73	316	0.2310	-12	c.252 others(29): Show c.2526+210_2526+221delGTGTGTGTGTGT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	17/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2114008	ATAGAACG others(5): Show ATAGAACGTTTAC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG03831.hp2 HG01257.hp2 HG01258.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0105	3	316	0.0095	-12	c.345 others(31): Show c.3457-1811_3457-1800delGAACGTTTACTA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	24/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2118452	ACTCATAC others(5): Show ACTCATACTCTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG03041.hp1 others(3): Show HG02572.hp1 HG02895.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0003 a0001c0058 a0002c0046 others(2): Show a0001c0003 a0001c0058 a0002c0046 a0003c0007 a0007c0064	a0001c0003t0001 a0001c0003t0002 a0001c0058t0001 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0058t0001 a0002c0046t0005 a0003c0007t0002 a0007c0064t0002	a0001c0003t0001g0238 a0001c0003t0002g0271 a0001c0058t0001g0135 others(3): Show a0001c0003t0001g0238 a0001c0003t0002g0271 a0001c0058t0001g0135 a0002c0046t0005g0134 a0003c0007t0002g0270 a0007c0064t0002g0260	6	316	0.0190	-12	c.368 others(30): Show c.3685-1002_3685-991delATACTCTTTCTC	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	25/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2145304	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp1 NA18965.hp2 others(2): Show HG02015.hp2 HG02523.hp1 NA18965.hp2 NA18987.hp1 NA18987.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0041 a0001c0001 a0001c0003 a0011c0041	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0011c0041t0001	a0001c0001t0001g0006 a0001c0001t0001g0162 a0001c0001t0002g0214 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0162 a0001c0001t0002g0214 a0001c0003t0002g0217 a0011c0041t0001g0251	5	316	0.0158	-12	c.398 others(33): Show c.3982-16368_3982-16357delAAAAAAAAAAAA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2155720	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02717.hp2 HG02738.hp1 others(4): Show HG01070.hp1 HG02717.hp2 HG02738.hp1 HG02922.hp2 HG03540.hp1 HG03942.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0005 a0003c0012 others(2): Show a0001c0001 a0002c0005 a0003c0012 a0003c0056 a0004c0014	a0001c0001t0001 a0001c0001t0013 a0002c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0013 a0002c0005t0001 a0002c0005t0002 a0003c0012t0001 a0003c0056t0003 a0004c0014t0001	a0001c0001t0001g0161 a0001c0001t0013g0316 a0002c0005t0001g0123 others(4): Show a0001c0001t0001g0161 a0001c0001t0013g0316 a0002c0005t0001g0123 a0002c0005t0002g0245 a0003c0012t0001g0263 a0003c0056t0003g0104 a0004c0014t0001g0078	7	316	0.0222	-12	c.398 others(31): Show c.3982-5939_3982-5928delTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2156414	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp1 NA18943.hp2 others(3): Show HG03516.hp2 NA18906.hp1 NA18943.hp2 NA18953.hp1 NA18974.hp1 NA19056.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0025 others(2): Show a0001c0001 a0001c0003 a0001c0025 a0002c0002 a0007c0064	a0001c0001t0001 a0001c0003t0002 a0001c0025t0001 others(2): Show a0001c0001t0001 a0001c0003t0002 a0001c0025t0001 a0002c0002t0001 a0007c0064t0002	a0001c0001t0001g0165 a0001c0003t0002g0311 a0001c0025t0001g0045 others(3): Show a0001c0001t0001g0165 a0001c0003t0002g0311 a0001c0025t0001g0045 a0002c0002t0001g0004 a0002c0002t0001g0172 a0007c0064t0002g0260	6	316	0.0190	-12	c.398 others(31): Show c.3982-5251_3982-5240delTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	10959647	AAAACAAA others(5): Show AAAACAAACAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01109.hp2 others(31): Show HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01255.hp1 HG01358.hp1 HG01516.hp2 HG01981.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03831.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0015 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0031 a0002c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0012t0001 a0001c0015t0001 a0001c0024t0001 a0001c0026t0001 a0001c0027t0001 a0001c0028t0001 a0001c0031t0001 a0002c0013t0001	a0001c0001t0001g0026 a0001c0002t0001g0207 a0001c0002t0001g0263 others(31): Show a0001c0001t0001g0026 a0001c0002t0001g0207 a0001c0002t0001g0263 a0001c0003t0001g0006 a0001c0003t0001g0203 a0001c0004t0001g0025 a0001c0006t0001g0267 a0001c0006t0001g0268 a0001c0006t0001g0271 a0001c0006t0001g0272 a0001c0007t0001g0017 a0001c0007t0001g0018 a0001c0007t0001g0020 a0001c0007t0001g0022 a0001c0008t0001g0266 a0001c0008t0001g0269 a0001c0008t0001g0270 a0001c0009t0001g0001 a0001c0009t0001g0002 a0001c0009t0001g0003 a0001c0010t0001g0009 a0001c0010t0001g0010 a0001c0010t0001g0011 a0001c0012t0001g0013 a0001c0012t0001g0015 a0001c0015t0001g0021 a0001c0015t0001g0023 a0001c0024t0001g0012 a0001c0026t0001g0281 a0001c0027t0001g0014 a0001c0028t0001g0007 a0001c0031t0001g0008 a0002c0013t0001g0016 a0002c0013t0001g0019	34	286	0.1189	-12	c.-15 others(23): Show c.-1558_-1547delAAACAAACAAAC	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		1382		chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94284342	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0153 a0002c0005t0003g0153	1	322	0.0031	-12	c.291 others(29): Show c.2910-611_2910-600delAAAAAGAAAAAA	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94293256	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02717.hp2 HG02723.hp2 HG01167.hp1 HG02717.hp2 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0003 a0001c0004t0001 a0002c0003t0003	a0001c0004t0001g0121 a0002c0003t0003g0146 a0002c0003t0003g0148 a0001c0004t0001g0121 a0002c0003t0003g0146 a0002c0003t0003g0148	3	322	0.0093	-12	c.37 others(23): Show c.3723_*3734delTGTGTGTGTGTG	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding		1965		chr4	TogoVar
SMARCAL1_chr2_216407484_216488053	216411392	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 NA18939.hp2 HG01243.hp2 NA18939.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0292 a0002c0002t0001g0202 a0001c0001t0001g0292 a0002c0002t0001g0202	2	408	0.0049	-12	c.-13 others(23): Show c.-1351_-1340delAAAAAAAAAAAA	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding		1091		chr2	TogoVar
SMARCB1_chr22_23781966_23843009	23818137	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(133): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0046 a0001c0001t0047 a0001c0001t0053 a0001c0001t0054 a0002c0003t0007	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(128): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0047 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0319 a0001c0001t0005g0331 a0001c0001t0005g0354 a0001c0001t0007g0004 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0247 a0001c0001t0007g0249 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0257 a0001c0001t0007g0259 a0001c0001t0007g0265 a0001c0001t0007g0275 a0001c0001t0007g0279 a0001c0001t0007g0287 a0001c0001t0007g0292 a0001c0001t0008g0225 a0001c0001t0008g0227 a0001c0001t0008g0232 a0001c0001t0008g0240 a0001c0001t0008g0248 a0001c0001t0008g0260 a0001c0001t0008g0261 a0001c0001t0008g0267 a0001c0001t0008g0268 a0001c0001t0008g0276 a0001c0001t0008g0280 a0001c0001t0008g0285 a0001c0001t0008g0295 a0001c0001t0011g0039 a0001c0001t0012g0002 a0001c0001t0012g0062 a0001c0001t0012g0064 a0001c0001t0012g0065 a0001c0001t0012g0066 a0001c0001t0012g0067 a0001c0001t0014g0068 a0001c0001t0014g0069 a0001c0001t0014g0070 a0001c0001t0014g0071 a0001c0001t0014g0072 a0001c0001t0020g0332 a0001c0001t0020g0333 a0001c0001t0035g0330 a0001c0001t0036g0334 a0001c0001t0037g0038 a0001c0001t0046g0251 a0001c0001t0047g0003 a0001c0001t0053g0269 a0001c0001t0054g0296 a0002c0003t0007g0221	136	363	0.3747	-12	c.795 others(29): Show c.795+1228_795+1239delGTGTGTGTGTGT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23830649	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01099.hp1 others(41): Show HG00733.hp1 HG00735.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 NA18612.hp1 NA18906.hp2 NA18949.hp1 NA18956.hp1 NA18983.hp1 NA19001.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 others(5): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0036 a0001c0001t0037 a0001c0002t0003	a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0036 others(39): Show a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0319 a0001c0001t0005g0354 a0001c0001t0011g0034 a0001c0001t0011g0039 a0001c0001t0011g0049 a0001c0001t0011g0050 a0001c0001t0011g0051 a0001c0001t0011g0055 a0001c0001t0011g0058 a0001c0001t0012g0002 a0001c0001t0012g0062 a0001c0001t0012g0064 a0001c0001t0012g0066 a0001c0001t0012g0067 a0001c0001t0014g0068 a0001c0001t0014g0069 a0001c0001t0014g0070 a0001c0001t0014g0072 a0001c0001t0020g0333 a0001c0001t0036g0334 a0001c0001t0037g0038 a0001c0002t0003g0201	44	363	0.1212	-12	c.987 others(29): Show c.987-2901_987-2890delTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47633777	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	219	0.0046	-12	c.264 others(31): Show c.2646+1401_2646+1412delGTGTGTGTGTAT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	24/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47636786	ATATGTGT others(5): Show ATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18961.hp1 NA18972.hp1 HG02738.hp1 NA18961.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094	3	219	0.0137	-12	c.237 others(29): Show c.2377-662_2377-651delCACACACACATA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	22/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47636788	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02071.hp1 HG02083.hp2 others(2): Show HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02300.hp2 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0004c0005t0009 a0001c0001t0003 a0004c0005t0009	a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0027 others(2): Show a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0027 a0001c0001t0003g0044 a0004c0005t0009g0079	5	219	0.0228	-12	c.237 others(29): Show c.2377-664_2377-653delCACACACACACA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	22/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47639715	AAACCAAC others(5): Show AAACCAACCAACC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	219	0.0046	-12	c.232 others(29): Show c.2321-947_2321-936delGGTTGGTTGGTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	21/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47663212	GAGGAAGG others(5): Show GAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01123.hp1 HG01943.hp2 others(12): Show HG00597.hp1 HG01123.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02148.hp2 HG03098.hp2 NA18967.hp1 NA18969.hp2 NA19004.hp1 NA19005.hp2 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0015 a0001c0001t0001g0192 a0001c0001t0001g0212 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0002g0083 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0012g0138	15	219	0.0685	-12	c.190 others(29): Show c.1900-632_1900-621delTCCTTCCTTCCT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	19/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47683888	CAGACAAA others(5): Show CAGACAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	219	0.0046	-12	c.138 others(31): Show c.1385+2149_1385+2160delTTTTGTTTGTCT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	14/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47713318	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02486.hp1 HG01934.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	219	0.0091	-12	c.792 others(29): Show c.792+1085_792+1096delATTTATTTATTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	8/27			chr3	TogoVar
SMARCC2_chr12_56157359_56194483	56167951	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	250	0.0040	-12	c.285 others(28): Show c.2850+97_2850+108delGTGTGTGTGTGT	SMARCC2	ENSG00000139613.12	transcript	ENST00000550164.6	protein_coding	26/28			chr12	TogoVar
SMARCD2_chr17_63827081_63847685	63836500	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	354	0.0028	-12	c.567 others(27): Show c.567+410_567+421delTTTTTTTTTTTT	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding	4/12			chr17	TogoVar
SMARCD2_chr17_63827081_63847685	63839273	TGCAGAGG others(5): Show TGCAGAGGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	354	0.0028	-12	c.217 others(29): Show c.217-1660_217-1649delGCTCACCTCTGC	SMARCD2	ENSG00000108604.18	transcript	ENST00000448276.7	protein_coding	1/12			chr17	TogoVar
SMC1B_chr22_45339063_45418599	45353909	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19064.hp1 NA19067.hp2 HG01934.hp1 NA19064.hp1 NA19067.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0083 a0002c0001t0002g0100 a0002c0001t0002g0116 a0002c0001t0002g0083 a0002c0001t0002g0100 a0002c0001t0002g0116	3	360	0.0083	-12	c.327 others(27): Show c.3273+57_3273+68delGTTTTTTTTTTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24			chr22	TogoVar
SMC1B_chr22_45339063_45418599	45364824	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01069.hp1 others(5): Show HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01256.hp2 HG01258.hp1 HG02056.hp1 HG02300.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0060 a0001c0002t0001g0145 a0005c0006t0001g0002 others(3): Show a0001c0002t0001g0060 a0001c0002t0001g0145 a0005c0006t0001g0002 a0005c0006t0001g0148 a0005c0006t0001g0163 a0005c0006t0001g0167	8	360	0.0222	-12	c.242 others(31): Show c.2421-1810_2421-1799delAAAAAAAAAAAA	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	15/24			chr22	TogoVar
SMC1B_chr22_45339063_45418599	45409564	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19056.hp1 HG00741.hp2 NA19056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0069 a0002c0001t0002g0114 a0002c0001t0002g0069 a0002c0001t0002g0114	2	360	0.0056	-12	c.110 others(27): Show c.110-678_110-667delTTTATTTATTTA	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	1/24			chr22	TogoVar
SMC2_chr9_104089309_104146419	104108769	AATCCTAG others(5): Show AATCCTAGGTTTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(128): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp2 NA18947.hp2 NA18954.hp2 NA18959.hp2 NA18965.hp1 NA18966.hp1 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19010.hp1 NA19012.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp2 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0002t0005 a0001c0008t0015 a0001c0010t0002 a0001c0011t0005 a0002c0005t0002	a0001c0001t0001g0122 a0001c0001t0002g0002 a0001c0001t0002g0003 others(79): Show a0001c0001t0001g0122 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0031 a0001c0001t0003g0058 a0001c0001t0003g0073 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0110 a0001c0001t0005g0007 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0060 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0115 a0001c0001t0007g0010 a0001c0001t0007g0094 a0001c0001t0007g0100 a0001c0001t0007g0109 a0001c0001t0016g0025 a0001c0001t0019g0159 a0001c0001t0026g0014 a0001c0001t0028g0116 a0001c0001t0029g0104 a0001c0001t0030g0091 a0001c0001t0031g0083 a0001c0001t0032g0007 a0001c0001t0033g0061 a0001c0001t0034g0003 a0001c0001t0035g0101 a0001c0001t0036g0066 a0001c0002t0005g0063 a0001c0008t0015g0113 a0001c0008t0015g0114 a0001c0010t0002g0112 a0001c0011t0005g0062 a0002c0005t0002g0015 a0002c0005t0002g0105	131	278	0.4712	-12	c.102 others(31): Show c.1021-2809_1021-2798delCCTAGGTTTCAT	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC4_chr3_160394650_160439953	160423349	GTTTTTTT others(5): Show GTTTTTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	332	0.0030	-12	c.202 others(27): Show c.2020-65_2020-54delTTTTTTTTTTTG	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC4_chr3_160394650_160439953	160425022	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19083.hp1 NA19079.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	332	0.0060	-12	c.247 others(27): Show c.2478+23_2478+34delGTGTGTGTGTGT	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC5_chr9_70253978_70359873	70308590	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp2 others(115): Show HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19066.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0002 a0004 a0008 others(2): Show a0002 a0004 a0008 a0009 a0011	a0002c0002 a0004c0004 a0004c0006 others(4): Show a0002c0002 a0004c0004 a0004c0006 a0004c0008 a0008c0014 a0009c0015 a0011c0021	a0002c0002t0001 a0002c0002t0004 a0002c0002t0010 others(10): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0010 a0002c0002t0013 a0002c0002t0019 a0002c0002t0022 a0004c0004t0001 a0004c0004t0018 a0004c0006t0001 a0004c0008t0005 a0008c0014t0001 a0009c0015t0011 a0011c0021t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 others(109): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0315 a0002c0002t0001g0318 a0002c0002t0004g0007 a0002c0002t0004g0084 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0094 a0002c0002t0010g0055 a0002c0002t0013g0319 a0002c0002t0019g0045 a0002c0002t0022g0074 a0004c0004t0001g0320 a0004c0004t0001g0321 a0004c0004t0001g0322 a0004c0004t0001g0323 a0004c0004t0001g0324 a0004c0004t0001g0325 a0004c0004t0001g0326 a0004c0004t0001g0327 a0004c0004t0001g0328 a0004c0004t0001g0329 a0004c0004t0001g0330 a0004c0004t0001g0334 a0004c0004t0001g0335 a0004c0004t0001g0337 a0004c0004t0001g0338 a0004c0004t0001g0339 a0004c0004t0001g0341 a0004c0004t0001g0343 a0004c0004t0018g0345 a0004c0006t0001g0331 a0004c0006t0001g0332 a0004c0006t0001g0333 a0004c0006t0001g0336 a0004c0006t0001g0340 a0004c0006t0001g0342 a0004c0008t0005g0100 a0004c0008t0005g0101 a0004c0008t0005g0102 a0004c0008t0005g0103 a0004c0008t0005g0104 a0008c0014t0001g0065 a0009c0015t0011g0108 a0011c0021t0001g0064	118	366	0.3224	-12	c.157 others(31): Show c.1578+3248_1578+3259delAAAAAAAAAAAA	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70309318	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18949.hp1 NA18984.hp2 others(3): Show NA18747.hp1 NA18949.hp1 NA18984.hp2 NA19002.hp2 NA19006.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0011 a0001c0001t0002g0225 a0001c0001t0002g0302 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0225 a0001c0001t0002g0302 a0002c0002t0001g0047 a0002c0002t0001g0114	6	366	0.0164	-12	c.157 others(31): Show c.1578+3978_1578+3989delTTTTTTTTTTTT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC6_chr2_17658812_17758810	17673561	AATTTTTT others(5): Show AATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp2 HG03579.hp2 HG02572.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0147 a0001c0001t0007g0006 a0001c0001t0001g0147 a0001c0001t0007g0006	3	254	0.0118	-12	c.291 others(31): Show c.2911-2998_2911-2987delAAAAAAAAAAAT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	25/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17691233	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0194 a0003c0002t0001g0194	1	254	0.0039	-12	c.267 others(31): Show c.2678+3907_2678+3918delGTGTGTGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	23/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17739879	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01517.hp2 others(13): Show HG00140.hp2 HG01175.hp2 HG01517.hp2 HG01891.hp1 HG01981.hp1 HG02004.hp2 HG02257.hp1 HG02280.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp2 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03710.hp1 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0002 a0002c0003t0001 a0003c0002t0001 a0001c0001t0002 a0002c0003t0001 a0003c0002t0001	a0001c0001t0002g0227 a0002c0003t0001g0007 a0002c0003t0001g0152 others(11): Show a0001c0001t0002g0227 a0002c0003t0001g0007 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0169 a0002c0003t0001g0177 a0002c0003t0001g0182 a0003c0002t0001g0009 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201	16	254	0.0630	-12	c.239 others(29): Show c.239-1565_239-1554delGTGTGTGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2662200	TAAAGAAA others(5): Show TAAAGAAAGAAAG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01243.hp1 others(8): Show HG00735.hp1 HG00738.hp2 HG01243.hp1 HG01952.hp2 HG02559.hp2 HG02630.hp1 HG03486.hp1 NA18950.hp1 NA19030.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0009 a0001c0012 others(2): Show a0001c0005 a0001c0009 a0001c0012 a0002c0001 a0002c0010	a0001c0005t0001 a0001c0009t0001 a0001c0012t0003 others(4): Show a0001c0005t0001 a0001c0009t0001 a0001c0012t0003 a0002c0001t0010 a0002c0001t0014 a0002c0001t0040 a0002c0010t0001	a0001c0005t0001g0255 a0001c0009t0001g0253 a0001c0012t0003g0254 others(8): Show a0001c0005t0001g0255 a0001c0009t0001g0253 a0001c0012t0003g0254 a0002c0001t0010g0263 a0002c0001t0010g0264 a0002c0001t0010g0265 a0002c0001t0010g0266 a0002c0001t0014g0215 a0002c0001t0014g0216 a0002c0001t0040g0217 a0002c0010t0001g0299	11	340	0.0324	-12	c.187 others(29): Show c.187-3941_187-3930delGAAAGAAAGAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr18	TogoVar

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