Joint Open Genome and Omics Platform (JoGo)

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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
CHEK2_chr22_28682743_28746820	28702135	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	384	0.0026	20	c.908 others(37): Show c.908+1350_908+1369dupCACACACACACACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	8/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28705968	A A	AAAACTAA others(13): Show AAAACTAAACTAAACTAAACT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG01891.hp1 others(12): Show HG00597.hp1 HG01243.hp2 HG01891.hp1 HG01981.hp2 HG02109.hp1 HG03710.hp1 HG03710.hp2 NA18747.hp1 NA18939.hp2 NA18955.hp2 NA18960.hp1 NA18977.hp2 NA18998.hp1 NA19011.hp2 NA19055.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0001 a0001c0001t0001 a0010c0013t0001	a0001c0001t0001g0015 a0001c0001t0001g0155 a0001c0001t0001g0225 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0155 a0001c0001t0001g0225 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0001g0356 a0010c0013t0001g0198	15	384	0.0391	20	c.847 others(37): Show c.847-2422_847-2403dupAGTTTAGTTTAGTTTAGTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHI3L2_chr1_111222713_111248440	111245350	T T	TCTAATTG others(13): Show TCTAATTGGTCACAGCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0008 a0001c0002t0004g0008	1	434	0.0023	20	c.21 others(31): Show c.2136_*2137insCTAATTGGTCACAGCCAGGA	CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding		1911		chr1	TogoVar
CHL1_chr3_191763_414417	194897	A A	ATCCTTCC others(13): Show ATCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0107 a0003c0003t0006g0107	1	290	0.0035	20	c.-23 others(31): Show c.-2341_-2340insTCCTTCCTTCCTTCCTTCCT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding		1865		chr3	TogoVar
CHL1_chr3_191763_414417	260263	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02615.hp1 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0037 a0003c0003t0001 a0001c0001t0037 a0003c0003t0001	a0001c0001t0037g0238 a0003c0003t0001g0106 a0001c0001t0037g0238 a0003c0003t0001g0106	2	290	0.0069	20	c.-95 others(39): Show c.-95+15572_-95+15591dupAAATAAATAAATAAATAAAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	333124	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02615.hp2 HG00140.hp2 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0230 a0002c0002t0004g0008 a0001c0001t0002g0230 a0002c0002t0004g0008	2	290	0.0069	20	c.385 others(37): Show c.385+4778_385+4779insTTTTTTTTTTTTTTTTTTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	349937	T T	TTTTGCTT others(13): Show TTTTGCTTCCTAATCCTGCAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02109.hp2 others(4): Show HG01167.hp1 HG01169.hp1 HG02109.hp2 HG02922.hp2 HG02965.hp1 HG03471.hp1 HG03540.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0004 a0007c0008 a0003c0003 a0004c0004 a0007c0008	a0003c0003t0006 a0003c0003t0008 a0004c0004t0016 others(3): Show a0003c0003t0006 a0003c0003t0008 a0004c0004t0016 a0004c0004t0049 a0007c0008t0012 a0007c0008t0024	a0003c0003t0006g0107 a0003c0003t0008g0076 a0004c0004t0016g0126 others(4): Show a0003c0003t0006g0107 a0003c0003t0008g0076 a0004c0004t0016g0126 a0004c0004t0049g0012 a0007c0008t0012g0094 a0007c0008t0024g0252 a0007c0008t0024g0253	7	290	0.0241	20	c.103 others(37): Show c.1033+396_1033+397insTGCTTCCTAATCCTGCAATT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP6_chr17_80986841_81005133	80988884	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 NA19007.hp1 HG03195.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0016 a0001c0001t0010g0074 a0001c0001t0002g0016 a0001c0001t0010g0074	2	438	0.0046	20	c.-30 others(31): Show c.-3035_-3034insGTGTGTGTGTGTGTGTGTGT	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		2956		chr17	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	438	0.0023	20	c.-29 others(31): Show c.-2918_-2917insTTTTTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0223 a0001c0001t0006g0223	1	245	0.0041	20	c.83 others(31): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19030.hp1 HG02647.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0222 a0001c0001t0006g0223	2	245	0.0082	20	c.177 others(39): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp1 HG01169.hp1 others(5): Show HG00544.hp1 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG02735.hp1 HG03239.hp1 NA18961.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0160 a0001c0001t0001g0172 others(5): Show a0001c0001t0001g0084 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0003g0183 a0001c0002t0001g0058 a0001c0002t0001g0067	8	245	0.0327	20	c.116 others(39): Show c.1167-2014_1167-1995dupCTTTCTTTCTTTCTTTCTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01934.hp1 others(15): Show HG00597.hp2 HG00621.hp1 HG01934.hp1 HG01943.hp1 HG02165.hp2 HG02280.hp2 HG02976.hp1 HG03579.hp1 NA18612.hp1 NA18747.hp1 NA18989.hp1 NA19012.hp1 NA19056.hp1 NA19063.hp1 NA19068.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0124 others(15): Show a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0209 a0001c0001t0002g0194 a0001c0001t0003g0006 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0004g0238 a0001c0001t0009g0199	18	245	0.0735	20	c.116 others(39): Show c.1166+6155_1166+6174dupATATATATATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG03540.hp1 others(1): Show HG02647.hp1 HG02723.hp2 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0222 others(1): Show a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223	4	245	0.0163	20	c.189 others(35): Show c.189+530_189+531insTATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	276	0.0036	20	c.550 others(35): Show c.550-836_550-817dupTTTTTTTTTTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174858979	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	276	0.0036	20	c.550 others(39): Show c.550-12042_550-12023dupGTGTGTGTGTGTGTGTGTGT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29195595	C C	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	232	0.0043	20	c.49+ others(33): Show c.49+621_49+640dupAGAGAGAGAGAGAGAGAGAG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	232	0.0043	20	c.49+ others(33): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03041.hp1 HG01175.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0039 a0001c0001t0012g0040 a0001c0001t0006g0039 a0001c0001t0012g0040	2	232	0.0086	20	c.49+ others(33): Show c.49+640_49+641insAGAGAGAGAGAGAGAGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 HG03579.hp1 HG01891.hp1 HG02723.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0027 a0001c0002t0010 a0001c0002t0027	a0001c0002t0010g0061 a0001c0002t0010g0062 a0001c0002t0027g0060 a0001c0002t0010g0061 a0001c0002t0010g0062 a0001c0002t0027g0060	3	232	0.0129	20	c.49+ others(33): Show c.49+640_49+641insAGAGAGAGAGAGAGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	232	0.0043	20	c.49+ others(33): Show c.49+640_49+641insAGAGAGAGAGAGTGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA21309.hp2 HG02280.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0017 a0001c0001t0001 a0002c0004t0017	a0001c0001t0001g0064 a0002c0004t0017g0128 a0001c0001t0001g0064 a0002c0004t0017g0128	2	232	0.0086	20	c.49+ others(37): Show c.49+38842_49+38861dupTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02273.hp2 HG02293.hp2 others(3): Show HG01192.hp1 HG02273.hp2 HG02293.hp2 HG03492.hp2 NA18998.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0002c0003t0004 a0002c0004t0006	a0001c0001t0003g0093 a0001c0001t0003g0138 a0001c0001t0006g0145 others(3): Show a0001c0001t0003g0093 a0001c0001t0003g0138 a0001c0001t0006g0145 a0001c0001t0008g0131 a0002c0003t0004g0071 a0002c0004t0006g0201	6	232	0.0259	20	c.49+ others(37): Show c.49+57597_49+57616dupTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252586	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18984.hp1 NA19084.hp2 NA18970.hp2 NA18984.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0023 a0001c0002t0004 a0001c0001t0003 a0001c0001t0023 a0001c0002t0004	a0001c0001t0003g0111 a0001c0001t0023g0206 a0001c0002t0004g0207 a0001c0001t0003g0111 a0001c0001t0023g0206 a0001c0002t0004g0207	3	232	0.0129	20	c.49+ others(37): Show c.49+57600_49+57601insGTTTTGTTTTGTTTTGTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29268283	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02135.hp2 HG02647.hp2 others(5): Show HG00639.hp1 HG02135.hp2 HG02647.hp2 HG03704.hp1 HG03710.hp1 NA18971.hp2 NA18972.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0002c0004t0017	a0001c0001t0003g0097 a0001c0001t0005g0221 a0001c0001t0007g0116 others(5): Show a0001c0001t0003g0097 a0001c0001t0005g0221 a0001c0001t0007g0116 a0001c0001t0007g0122 a0001c0002t0002g0027 a0001c0002t0002g0030 a0001c0002t0004g0074 a0002c0004t0017g0128	8	232	0.0345	20	c.49+ others(37): Show c.49+73313_49+73332dupCACACACACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273351	A A	ATATATAT others(13): Show ATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	232	0.0043	20	c.49+ others(37): Show c.49+78378_49+78379insGTGTATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29295314	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	232	0.0043	20	c.50- others(37): Show c.50-59297_50-59278dupCACACACACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29374801	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG02080.hp1 others(8): Show HG00558.hp2 HG00639.hp1 HG02080.hp1 HG02622.hp2 HG03017.hp2 HG03516.hp1 NA18942.hp1 NA18957.hp1 NA18972.hp2 NA18984.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0103 a0001c0001t0003g0049 a0001c0001t0005g0018 others(8): Show a0001c0001t0001g0103 a0001c0001t0003g0049 a0001c0001t0005g0018 a0001c0001t0007g0003 a0001c0001t0007g0122 a0001c0001t0008g0139 a0001c0001t0023g0206 a0001c0002t0001g0134 a0001c0002t0002g0030 a0001c0002t0002g0098 a0001c0002t0004g0207	11	232	0.0474	20	c.144 others(37): Show c.144+6844_144+6863dupTCCTTCCTTCCTTCCTTCCT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29437597	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18982.hp1 HG01517.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0001 a0001c0001t0005 a0002c0004t0001	a0001c0001t0005g0023 a0002c0004t0001g0038 a0001c0001t0005g0023 a0002c0004t0001g0038	2	232	0.0086	20	c.576 others(39): Show c.576+36785_576+36786insAAAAAAAAAAAAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01099.hp1 others(21): Show HG00438.hp2 HG00639.hp1 HG01099.hp1 HG01109.hp2 HG01496.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02258.hp1 HG02523.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03471.hp1 HG04184.hp2 HG04204.hp1 NA18941.hp2 NA18950.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18985.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0002g0005 a0001c0001t0003g0002 a0005c0006t0001g0001	24	392	0.0612	20	c.17 others(31): Show c.1798_*1799insTTCTTTCTTTCTTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689985	C C	CTATATAT others(13): Show CTATATATCTATATATATCTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0040 a0001c0002t0006g0040	1	172	0.0058	20	c.779 others(37): Show c.779-1183_779-1182insTAGATATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110705304	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0165 a0001c0002t0007g0165	1	172	0.0058	20	c.542 others(37): Show c.542-4584_542-4583insGTGTGTGTATATATATATAT	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	6/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110747409	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0171 a0001c0002t0003g0171	1	172	0.0058	20	c.301 others(39): Show c.301+12232_301+12251dupGTGTGTGTGTGTGTGTGTGT	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	4/11			chrX	TogoVar
CHRD_chr3_184375054_184394829	184390191	T T	TCCCTCCC others(13): Show TCCCTCCCCTCCCCTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0135 a0002c0025t0001g0135	1	428	0.0023	20	c.76 others(29): Show c.769_*770insCCCTCCCCTCCCCTCCCCTC	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding		363		chr3	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393857	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG04115.hp1 HG01515.hp1 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0024 a0003c0003 a0001c0024 a0003c0003	a0001c0024t0028 a0003c0003t0002 a0001c0024t0028 a0003c0003t0002	a0001c0024t0028g0103 a0003c0003t0002g0014 a0001c0024t0028g0103 a0003c0003t0002g0014	2	133	0.0150	20	c.-76 others(29): Show c.-763_-762insCACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		318		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924629	G G	GCTCTCTC others(13): Show GCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	420	0.0024	20	c.-34 others(31): Show c.-3491_-3490insAGAGAGAGAGAGAGAGAGAG	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3267		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924666	C C	CTATATAT others(13): Show CTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	420	0.0024	20	c.-35 others(31): Show c.-3528_-3527insTATATATATATATATATATA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3304		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTATATAT others(13): Show CTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 NA19065.hp1 HG02055.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0003 a0001c0001t0001 a0002c0004t0003	a0001c0001t0001g0001 a0002c0004t0003g0051 a0001c0001t0001g0001 a0002c0004t0003g0051	2	420	0.0048	20	c.-35 others(31): Show c.-3530_-3529insTATATATATATATATATATA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02155.hp2 NA18954.hp2 HG00544.hp2 HG02155.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0001 a0001c0001t0001g0036	3	420	0.0071	20	c.-35 others(31): Show c.-3530_-3529insTATATATATATAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	20	c.-35 others(31): Show c.-3530_-3529insTATATATAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG03516.hp2 HG02083.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0084 a0001c0001t0001g0086	2	420	0.0048	20	c.-35 others(31): Show c.-3530_-3529insTAGAGAGAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136916148	T T	TATACCAT others(13): Show TATACCATCATTACAATTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG00735.hp2 others(42): Show HG00099.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01943.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02559.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18954.hp1 NA18956.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp1 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19043.hp1 NA19066.hp2 NA19075.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0036 a0001c0001t0041 a0001c0001t0050 a0001c0001t0061 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(42): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0284 a0001c0001t0002g0092 a0001c0001t0003g0222 a0001c0001t0003g0273 a0001c0001t0004g0075 a0001c0001t0005g0291 a0001c0001t0006g0243 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0278 a0001c0001t0007g0088 a0001c0001t0007g0132 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0007g0302 a0001c0001t0007g0305 a0001c0001t0007g0316 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0008g0074 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0089 a0001c0001t0008g0091 a0001c0001t0008g0131 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0017g0277 a0001c0001t0036g0059 a0001c0001t0041g0318 a0001c0001t0050g0085 a0001c0001t0061g0155 a0001c0002t0001g0027 a0001c0002t0005g0030	45	320	0.1406	20	c.-12 others(41): Show c.-125+46732_-125+46733insACCATCATTACAATTGCCAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136921790	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18991.hp1 NA19066.hp2 NA18982.hp2 NA18991.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001	a0001c0001t0002g0161 a0001c0001t0010g0025 a0001c0002t0001g0027 a0001c0001t0002g0161 a0001c0001t0010g0025 a0001c0002t0001g0027	3	320	0.0094	20	c.-12 others(41): Show c.-125+52375_-125+52376insTTTTTTTTTTTTTTTTTTTT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136949459	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp2 HG03579.hp1 others(2): Show HG01891.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 others(1): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024	a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0014g0093 others(2): Show a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0014g0093 a0001c0001t0023g0245 a0001c0001t0024g0067	5	320	0.0156	20	c.-12 others(41): Show c.-124-42709_-124-42708insAAAAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137000547	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02818.hp1 HG01243.hp2 HG02818.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0009 a0001c0003 a0004c0009	a0001c0003t0023 a0004c0009t0028 a0001c0003t0023 a0004c0009t0028	a0001c0003t0023g0218 a0004c0009t0028g0303 a0001c0003t0023g0218 a0004c0009t0028g0303	2	320	0.0063	20	c.-47 others(37): Show c.-47+8298_-47+8299insAGAAGGAAGGAAGGAAGGAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137000547	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02015.hp2 HG02523.hp1 others(21): Show HG01496.hp2 HG02015.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG03540.hp1 HG03688.hp2 HG03942.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18946.hp1 NA18957.hp2 NA18962.hp2 NA18983.hp2 NA18984.hp1 NA19057.hp2 NA19065.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0032 a0001c0001t0034 a0001c0001t0047 a0001c0001t0078 a0001c0002t0002 a0002c0004t0002	a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 others(21): Show a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0189 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0116 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0005g0173 a0001c0001t0005g0178 a0001c0001t0006g0275 a0001c0001t0006g0278 a0001c0001t0007g0285 a0001c0001t0017g0277 a0001c0001t0018g0041 a0001c0001t0018g0217 a0001c0001t0021g0050 a0001c0001t0032g0111 a0001c0001t0034g0110 a0001c0001t0047g0122 a0001c0001t0078g0095 a0001c0002t0002g0036 a0002c0004t0002g0169	24	320	0.0750	20	c.-47 others(37): Show c.-47+8309_-47+8328dupAAGGAAGGAAGGAAGGAAGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0277 a0001c0001t0017g0277	1	320	0.0031	20	c.-46 others(37): Show c.-46-3604_-46-3603insGTGTGTATATATATATATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0014 a0006c0006t0014	a0006c0006t0014g0259 a0006c0006t0014g0259	1	320	0.0031	20	c.-46 others(37): Show c.-46-3604_-46-3603insGTGTGTGTATATATATATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0179	1	320	0.0031	20	c.-46 others(37): Show c.-46-3604_-46-3603insGTGTGTGTGTATATATATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(13): Show GTCTCTCTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18944.hp1 NA19012.hp2 others(2): Show HG02040.hp2 NA18944.hp1 NA19012.hp2 NA19043.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0024	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0002g0006 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0002g0006 a0001c0001t0016g0101 a0001c0001t0024g0088	5	116	0.0431	20	c.-46 others(31): Show c.-4694_-4693insTCTCTCTCTTTCTCTCTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3513		chr1	TogoVar

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