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	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
CFTR_chr7_117475025_117673665	117612006	G G	GATATATA others(13): Show GATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	202	0.0050	20	c.336 others(37): Show c.3367+214_3367+215insATGTATATATATATATATAT		CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
CGAS_chr6_73418711_73457297	73449476	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01346.hp1 HG01928.hp1 others(5): Show HG00673.hp2 HG01346.hp1 HG01928.hp1 HG01975.hp1 HG02015.hp2 HG02074.hp1 NA18999.hp1 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0006 a0001c0003t0001 a0001c0003t0011 others(1): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0011 a0001c0006t0003	a0001c0002t0006g0010 a0001c0003t0001g0285 a0001c0003t0001g0286 others(3): Show a0001c0002t0006g0010 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0011g0283 a0001c0003t0011g0287 a0001c0006t0003g0284	8	410	0.0195	20	c.657 others(37): Show c.657+2029_657+2048dupGTGTGTGTGTGTGTGTGTGT		CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4						chr6	TogoVar
CGAS_chr6_73418711_73457297	73449508	C C	CACACACA others(13): Show CACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02735.hp2 HG03927.hp1 others(1): Show HG01496.hp2 HG02735.hp2 HG03927.hp1 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0002t0024 a0001c0002t0035 others(1): Show a0001c0002t0007 a0001c0002t0024 a0001c0002t0035 a0001c0003t0040	a0001c0002t0007g0066 a0001c0002t0024g0100 a0001c0002t0035g0065 others(1): Show a0001c0002t0007g0066 a0001c0002t0024g0100 a0001c0002t0035g0065 a0001c0003t0040g0094	4	410	0.0098	20	c.657 others(37): Show c.657+2016_657+2017insTTGTGTGTGTGTGTGTGTGT		CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4						chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01891.hp2 others(14): Show HG00597.hp1 HG00642.hp1 HG01891.hp2 HG01978.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02602.hp2 HG03654.hp1 HG04204.hp1 HG04204.hp2 NA18945.hp1 NA19043.hp1 NA19067.hp2 NA19081.hp1 NA19082.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0005 a0001c0002 a0002c0001 a0002c0005	a0001c0002t0053 a0002c0001t0001 a0002c0001t0005 others(5): Show a0001c0002t0053 a0002c0001t0001 a0002c0001t0005 a0002c0001t0017 a0002c0001t0067 a0002c0001t0068 a0002c0005t0006 a0002c0005t0008	a0001c0002t0053g0126 a0002c0001t0001g0006 a0002c0001t0001g0009 others(14): Show a0001c0002t0053g0126 a0002c0001t0001g0006 a0002c0001t0001g0009 a0002c0001t0001g0027 a0002c0001t0001g0144 a0002c0001t0001g0146 a0002c0001t0001g0151 a0002c0001t0001g0166 a0002c0001t0001g0246 a0002c0001t0001g0256 a0002c0001t0001g0269 a0002c0001t0005g0128 a0002c0001t0017g0112 a0002c0001t0067g0240 a0002c0001t0068g0254 a0002c0005t0006g0249 a0002c0005t0008g0029	17	410	0.0415	20	c.-13 others(31): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAA		CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding					1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57374287	A A	ATTAGTTC others(13): Show ATTAGTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01192.hp2 others(1): Show HG01069.hp2 HG01071.hp1 HG01192.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0002g0208 a0001c0001t0004g0181 a0001c0001t0002g0001 a0001c0001t0002g0208 a0001c0001t0004g0181	4	294	0.0136	20	c.-22 others(31): Show c.-2296_-2295insTTAGTTCCTTCCTTCCTTCC		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding					2217		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57405772	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	294	0.0034	20	c.-16 others(39): Show c.-16+29224_-16+29243dupTTTCTTTCTTTCTTTCTTTC		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57409037	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0017 a0002c0008t0017	a0002c0008t0017g0013 a0002c0008t0017g0013	1	294	0.0034	20	c.-15 others(39): Show c.-15-28931_-15-28912dupCACACACACACACACACACA		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG03471.hp1 others(2): Show HG02572.hp1 HG02717.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0007 a0002c0002t0013 a0001c0001t0001 a0002c0002t0007 a0002c0002t0013	a0001c0001t0001g0188 a0002c0002t0007g0055 a0002c0002t0007g0058 others(2): Show a0001c0001t0001g0188 a0002c0002t0007g0055 a0002c0002t0007g0058 a0002c0002t0007g0099 a0002c0002t0013g0114	5	294	0.0170	20	c.169 others(37): Show c.1698-189_1698-170dupAAAAAAAAAAAAAAAAAAAA		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57464670	T T	TTTTCCTT others(13): Show TTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01255.hp1 others(10): Show HG00733.hp1 HG01109.hp1 HG01255.hp1 HG01884.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG03195.hp2 HG03486.hp2 NA18971.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0002c0038 a0004c0004 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0013 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0013 a0002c0002t0034 a0002c0002t0040 a0002c0008t0003 a0002c0038t0012 a0004c0004t0001 a0006c0007t0005	a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0233 others(10): Show a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0233 a0001c0001t0002g0060 a0002c0002t0013g0114 a0002c0002t0034g0090 a0002c0002t0040g0159 a0002c0008t0003g0202 a0002c0038t0012g0123 a0004c0004t0001g0137 a0006c0007t0005g0027 a0006c0007t0005g0056 a0006c0007t0005g0098	13	294	0.0442	20	c.240 others(39): Show c.2403+2821_2403+2840dupTCCTTTCCTTTCCTTTCCTT		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0321 a0001c0004t0016g0321	1	352	0.0028	20	c.-12 others(37): Show c.-12+1955_-12+1974dupGAGAGAGAGAGAGAGAGAGA		CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5						chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA20752.hp2 NA19068.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0116 a0001c0002t0002g0071 a0001c0002t0002g0116	2	352	0.0057	20	c.-12 others(37): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGA		CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5						chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54513566	T T	TTTATGTT others(13): Show TTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0214 a0001c0001t0010g0214	1	338	0.0030	20	c.104 others(37): Show c.104+3535_104+3554dupTATGTTATGTTATGTTATGT		CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
CGRRF1_chr14_54504906_54544292	54535359	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02451.hp1 HG03831.hp1 others(1): Show HG02155.hp1 HG02451.hp1 HG03831.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0049 a0001c0001t0001g0086 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0086 a0001c0001t0001g0087 a0002c0002t0002g0188	4	338	0.0118	20	c.571 others(37): Show c.571-2347_571-2328dupACACACACACACACACACAC		CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAF1A_chr19_4397640_4448397	4401608	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02630.hp1 others(7): Show HG02257.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp2 NA18939.hp1 NA18959.hp2 NA18973.hp1 NA18985.hp2 NA19012.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0140 a0001c0001t0001g0166 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0268	10	384	0.0260	20	c.-11 others(31): Show c.-1155_-1154insAAGGAAGGAAGGAAGGAAGG		CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding					1031		chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02040.hp1 HG01261.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0264 a0001c0001t0001g0236 a0001c0001t0001g0264	2	384	0.0052	20	c.104 others(35): Show c.104-431_104-412dupTTTTTTTTTTTTTTTTTTTT		CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4409436	G G	GGCCCGAG others(13): Show GGCCCGAGAATGTGCCCCAGA	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0002 a0017c0025t0002	a0017c0025t0002g0102 a0017c0025t0002g0102	1	384	0.0026	20	c.638 others(27): Show c.638_657dupGCCCGAGAATGTGCCCCAGA	p.Lys others(5): Show p.Lys220fs	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/15	781/3366	658/2871	220/956		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00741.hp2 others(22): Show HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01175.hp2 HG01516.hp2 HG02080.hp2 HG02683.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18975.hp2 NA18978.hp1 NA18981.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0002c0002t0011	a0001c0001t0003g0117 a0001c0001t0003g0328 a0001c0001t0003g0330 others(22): Show a0001c0001t0003g0117 a0001c0001t0003g0328 a0001c0001t0003g0330 a0001c0001t0004g0325 a0001c0001t0004g0329 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0027 a0002c0002t0002g0031 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0076 a0002c0002t0002g0081 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0011g0077	25	384	0.0651	20	c.960 others(37): Show c.960+1887_960+1906dupTTTTTTTTTTTTTTTTTTTT		CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389798	T T	TGCGCGCG others(13): Show TGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	346	0.0029	20	c.260 others(37): Show c.260-1752_260-1751insCGCGCGCGCGCGCGCGCGCG		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGCG others(13): Show TGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0301 a0001c0001t0006g0301	1	346	0.0029	20	c.260 others(37): Show c.260-1750_260-1749insTGTGCGCGCGCGCGCGCGCG		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(13): Show TGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0323 a0001c0001t0005g0323	1	346	0.0029	20	c.260 others(37): Show c.260-1750_260-1749insTGTGTGCGCGCGCGCGCGCG		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAMP1_chr13_114309503_114332322	114320955	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03516.hp2 HG01071.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0048	2	414	0.0048	20	c.-17 others(37): Show c.-178-142_-178-141insAAAAAAAAAAAAAAAAAAAA		CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr13	TogoVar
CHAT_chr10_49609037_49672942	49648726	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	418	0.0024	20	c.138 others(37): Show c.1382+132_1382+151dupACACACACACACACACACAC		CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	310	0.0032	20	c.369 others(39): Show c.369+19995_369+19996insACACACACACACACACACCC		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7						chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp1 HG02027.hp2 others(14): Show HG00544.hp2 HG01074.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02622.hp1 HG03098.hp2 HG03453.hp1 HG03579.hp1 HG03710.hp1 NA18906.hp2 NA18945.hp2 NA18960.hp1 NA18966.hp1 NA18972.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0163 others(14): Show a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0003g0129	17	310	0.0548	20	c.369 others(39): Show c.369+19976_369+19995dupACACACACACACACACACAC		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7						chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132963694	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	310	0.0032	20	c.369 others(39): Show c.369+11474_369+11475insGTGTGTGTGTGTGTGTGTGT		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7						chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132990951	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02572.hp2 others(1): Show HG01891.hp2 HG02257.hp1 HG02572.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0002g0214 others(1): Show a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0002g0214 a0001c0001t0002g0215	4	310	0.0129	20	c.252 others(39): Show c.252-15685_252-15666dupGTGTGTGTGTGTGTGTGTGT		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7						chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02258.hp1 HG02976.hp2 others(1): Show HG01346.hp2 HG02258.hp1 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0202 a0001c0003t0001g0107 a0001c0003t0001g0109 others(1): Show a0001c0001t0001g0202 a0001c0003t0001g0107 a0001c0003t0001g0109 a0001c0003t0001g0111	4	216	0.0185	20	c.412 others(39): Show c.412-28085_412-28066dupAAAAAAAAAAAAAAAAAAAA		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299055	A A	AAAAATAA others(13): Show AAAAATAAAATCTTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	418	0.0024	20	c.35 others(31): Show c.3546_*3547insAAAATAAAATCTTCCTCCTC		CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding					3294		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911144	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18957.hp1 HG01070.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0269 a0001c0001t0001g0260 a0001c0001t0001g0269	2	334	0.0060	20	c.54- others(35): Show c.54-6047_54-6046insATATATATATATATATATAT		CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35						chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(13): Show CCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02647.hp2 others(2): Show HG02258.hp1 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0052 a0001c0003t0006g0053 a0001c0003t0006g0054 others(2): Show a0001c0003t0006g0052 a0001c0003t0006g0053 a0001c0003t0006g0054 a0001c0003t0006g0061 a0001c0003t0006g0062	5	334	0.0150	20	c.53+ others(35): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTTG		CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35						chr5	TogoVar
CHD2_chr15_92895324_93032996	92999083	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0154 a0001c0005t0004g0154	1	306	0.0033	20	c.400 others(37): Show c.4008+477_4008+496dupAAAAAAAAAAAAAAAAAAAA		CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	31/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD5_chr1_6096787_6185321	6132880	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0085 a0001c0019t0085	a0001c0019t0085g0316 a0001c0019t0085g0316	1	320	0.0031	20	c.314 others(39): Show c.3145-1152_3145-1133dupGAGAGAGAGAGAGAGAGAGA		CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	20/41						chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	324	0.0031	20	c.612 others(37): Show c.6127+934_6127+953dupTTTTTTTTTTTTTTTTTTTT		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36						chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19068.hp1 HG01934.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0227 a0001c0001t0002g0197 a0001c0001t0002g0227	2	324	0.0062	20	c.853 others(37): Show c.853-4740_853-4721dupTTTTTTTTTTTTTTTTTTTT		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36						chr20	TogoVar
CHD7_chr8_60673740_60873028	60816113	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0012 a0001c0021t0012	a0001c0021t0012g0031 a0001c0021t0012g0031	1	236	0.0042	20	c.249 others(37): Show c.2499-271_2499-270insGTCTGTCTCTCTCTCTCTCT		CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	7/37					INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60862809	T T	TAATACAT others(13): Show TAATACATCATTTCTTACATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp2 others(55): Show HG00099.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA18965.hp2 NA18987.hp1 NA18998.hp2 NA19030.hp1 NA19062.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0027 a0001c0032 a0001c0036 a0001c0038 a0006c0012 a0007c0017 a0009c0035 a0010c0015	a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 others(25): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0039 a0001c0001t0040 a0001c0001t0049 a0001c0002t0005 a0001c0002t0006 a0001c0002t0020 a0001c0002t0029 a0001c0002t0050 a0001c0002t0051 a0001c0006t0006 a0001c0008t0010 a0001c0008t0014 a0001c0016t0005 a0001c0018t0005 a0001c0019t0010 a0001c0021t0012 a0001c0027t0027 a0001c0032t0028 a0001c0036t0026 a0001c0038t0010 a0006c0012t0024 a0007c0017t0005 a0009c0035t0038 a0010c0015t0010	a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0009g0226 others(55): Show a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0009g0226 a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0009g0229 a0001c0001t0012g0097 a0001c0001t0012g0102 a0001c0001t0012g0112 a0001c0001t0014g0221 a0001c0001t0014g0233 a0001c0001t0018g0194 a0001c0001t0018g0197 a0001c0001t0039g0220 a0001c0001t0040g0177 a0001c0001t0049g0029 a0001c0002t0005g0098 a0001c0002t0005g0101 a0001c0002t0005g0111 a0001c0002t0005g0162 a0001c0002t0005g0164 a0001c0002t0005g0165 a0001c0002t0005g0166 a0001c0002t0005g0167 a0001c0002t0005g0168 a0001c0002t0005g0183 a0001c0002t0006g0013 a0001c0002t0006g0026 a0001c0002t0006g0070 a0001c0002t0006g0073 a0001c0002t0006g0091 a0001c0002t0006g0109 a0001c0002t0006g0114 a0001c0002t0006g0156 a0001c0002t0006g0218 a0001c0002t0006g0230 a0001c0002t0006g0234 a0001c0002t0006g0235 a0001c0002t0020g0084 a0001c0002t0020g0085 a0001c0002t0029g0088 a0001c0002t0050g0163 a0001c0002t0051g0030 a0001c0006t0006g0096 a0001c0008t0010g0236 a0001c0008t0014g0122 a0001c0016t0005g0121 a0001c0018t0005g0184 a0001c0019t0010g0043 a0001c0021t0012g0031 a0001c0027t0027g0185 a0001c0032t0028g0174 a0001c0036t0026g0106 a0001c0038t0010g0169 a0006c0012t0024g0187 a0007c0017t0005g0113 a0009c0035t0038g0219 a0010c0015t0010g0222	58	236	0.2458	20	c.807 others(37): Show c.8076+168_8076+169insTCTTACATCAATACATCATT		CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	37/37					INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD8_chr14_21380199_21461123	21396566	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	260	0.0039	20	c.505 others(37): Show c.5052-694_5052-675dupTAAATAAATAAATAAATAAA		CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	27/37						chr14	TogoVar
CHD8_chr14_21380199_21461123	21442680	A A	AGAGGGGA others(13): Show AGAGGGGAGGAGAGGAGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0239 a0001c0009t0001g0240 a0001c0009t0001g0239 a0001c0009t0001g0240	2	260	0.0077	20	c.-21 others(41): Show c.-215-10823_-215-10822insCCCTCTCCTCTCCTCCCCTC		CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37						chr14	TogoVar
CHD8_chr14_21380199_21461123	21442738	C C	CGGGAGGA others(13): Show CGGGAGGAGAGGGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp2 HG01071.hp2 others(12): Show HG00408.hp2 HG01070.hp2 HG01071.hp2 HG02004.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02717.hp2 HG02738.hp1 HG03139.hp2 NA18960.hp2 NA19007.hp2 NA19030.hp1 NA19074.hp1 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0009c0013t0002 a0001c0001t0001 a0001c0001t0002 a0009c0013t0002	a0001c0001t0001g0085 a0001c0001t0001g0150 a0001c0001t0002g0005 others(12): Show a0001c0001t0001g0085 a0001c0001t0001g0150 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0009c0013t0002g0021	15	260	0.0577	20	c.-21 others(41): Show c.-215-10900_-215-10881dupCTCTCCTCCCCTCTCCTCCC		CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37						chr14	TogoVar
CHD8_chr14_21380199_21461123	21454162	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02071.hp1 HG02074.hp1 others(11): Show HG01358.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03471.hp2 HG03942.hp1 HG03942.hp2 NA19004.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0007c0016	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0004t0001 a0007c0016t0001	a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 others(11): Show a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0003g0131 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0002c0002t0001g0136 a0003c0004t0001g0133 a0007c0016t0001g0137	14	260	0.0539	20	c.-21 others(39): Show c.-216+1850_-216+1869dupCTTTTCTTTTCTTTTCTTTT		CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37						chr14	TogoVar
CHD9NB_chr16_53036484_53057897	53053640	A A	AGATTGAT others(13): Show AGATTGATTGATTGATTGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	406	0.0025	20	c.-10 others(31): Show c.-1065_-1064insAATCAATCAATCAATCAATC		CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding					744		chr16	TogoVar
CHD9_chr16_53049991_53332497	53053640	A A	AGATTGAT others(13): Show AGATTGATTGATTGATTGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	238	0.0042	20	c.-16 others(31): Show c.-1602_-1601insGATTGATTGATTGATTGATT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding					1350		chr16	TogoVar
CHD9_chr16_53049991_53332497	53070485	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	238	0.0042	20	c.-16 others(41): Show c.-165+15411_-165+15412insCTTCCTTCCTTCCTTCCTTC		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53097354	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	238	0.0042	20	c.-16 others(41): Show c.-165+42311_-165+42330dupCTTCCTTCCTTCCTTCCTTC		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53131074	G G	GCCGCCGC others(13): Show GCCGCCGCTGCCACCCACCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0005 others(19): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0016 a0001c0017 a0001c0019 a0001c0020 a0002c0002 a0002c0022 a0003c0004 a0004c0006 a0005c0007 a0006c0011 a0007c0009 a0008c0015 a0009c0021 a0010c0018 a0011c0014 a0012c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0013 a0001c0003t0016 a0001c0003t0017 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 a0001c0005t0012 a0001c0005t0018 a0001c0008t0001 a0001c0012t0001 a0001c0013t0001 a0001c0016t0001 a0001c0017t0002 a0001c0019t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0008 a0002c0002t0014 a0002c0022t0001 a0003c0004t0001 a0003c0004t0006 a0004c0006t0001 a0005c0007t0009 a0006c0011t0003 a0007c0009t0004 a0008c0015t0001 a0009c0021t0005 a0010c0018t0019 a0011c0014t0001 a0012c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0021 others(232): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0079 a0001c0001t0003g0096 a0001c0001t0003g0105 a0001c0001t0003g0112 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0167 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0007g0103 a0001c0001t0007g0122 a0001c0001t0009g0050 a0001c0001t0020g0101 a0001c0003t0001g0158 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0015 a0001c0003t0002g0023 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0033 a0001c0003t0002g0036 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0059 a0001c0003t0002g0070 a0001c0003t0002g0073 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0094 a0001c0003t0002g0125 a0001c0003t0002g0142 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0161 a0001c0003t0002g0170 a0001c0003t0002g0191 a0001c0003t0002g0202 a0001c0003t0002g0224 a0001c0003t0010g0006 a0001c0003t0010g0013 a0001c0003t0013g0186 a0001c0003t0016g0039 a0001c0003t0017g0181 a0001c0005t0001g0215 a0001c0005t0004g0078 a0001c0005t0004g0104 a0001c0005t0004g0169 a0001c0005t0004g0231 a0001c0005t0004g0232 a0001c0005t0004g0233 a0001c0005t0004g0234 a0001c0005t0004g0235 a0001c0005t0004g0236 a0001c0005t0004g0238 a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0032 a0001c0005t0005g0061 a0001c0005t0005g0089 a0001c0005t0005g0135 a0001c0005t0005g0151 a0001c0005t0011g0228 a0001c0005t0012g0229 a0001c0005t0018g0001 a0001c0008t0001g0077 a0001c0012t0001g0132 a0001c0013t0001g0055 a0001c0016t0001g0115 a0001c0017t0002g0053 a0001c0019t0002g0156 a0001c0020t0002g0237 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0063 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0193 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0219 a0002c0002t0008g0065 a0002c0002t0008g0137 a0002c0002t0014g0011 a0002c0022t0001g0180 a0003c0004t0001g0007 a0003c0004t0001g0093 a0003c0004t0001g0100 a0003c0004t0001g0123 a0003c0004t0001g0134 a0003c0004t0001g0141 a0003c0004t0001g0143 a0003c0004t0001g0148 a0003c0004t0001g0157 a0003c0004t0001g0162 a0003c0004t0001g0177 a0003c0004t0001g0187 a0003c0004t0001g0189 a0003c0004t0001g0192 a0003c0004t0001g0194 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0198 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0207 a0003c0004t0001g0209 a0003c0004t0001g0214 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0006g0074 a0003c0004t0006g0190 a0003c0004t0006g0199 a0004c0006t0001g0121 a0004c0006t0001g0127 a0004c0006t0001g0128 a0005c0007t0009g0076 a0006c0011t0003g0062 a0007c0009t0004g0107 a0008c0015t0001g0213 a0009c0021t0005g0155 a0010c0018t0019g0004 a0011c0014t0001g0030 a0012c0010t0001g0212	235	238	0.9874	20	c.-16 others(41): Show c.-164-24850_-164-24831dupCGCCGCTGCCACCCACCGCC		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53131074	G G	GCTGCCGC others(13): Show GCTGCCGCTGCCACCCACCGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0097 a0001c0005t0004g0097	1	238	0.0042	20	c.-16 others(41): Show c.-164-24851_-164-24850insTGCCGCTGCCACCCACCGCC		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146413	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0061 a0001c0005t0005g0061	1	238	0.0042	20	c.-16 others(39): Show c.-164-9512_-164-9511insATATATATATATATATATAT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0215 a0001c0005t0001g0215	1	238	0.0042	20	c.-16 others(39): Show c.-164-9506_-164-9505insGTGTGTGTGTATATATATAT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0170 a0001c0003t0029g0170	1	392	0.0026	20	c.69 others(31): Show c.6999_*7018dupTTTTTTTTTTTTTTTTTTTT		CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding					1576		chr3	TogoVar
CHEK1_chr11_125620163_125662147	125657187	T T	TTTTGTGT others(13): Show TTTTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	384	0.0026	20	c.18 others(31): Show c.1867_*1868insTTTGTGTGTGTGTGTGTGTG		CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding					41		chr11	TogoVar

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