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
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp2 HG03579.hp2 HG01261.hp2 HG02615.hp2 HG03579.hp2	a0001 a0015 a0032 a0001 a0015 a0032	a0001c0004 a0015c0063 a0032c0024 a0001c0004 a0015c0063 a0032c0024	a0001c0004t0063 a0015c0063t0010 a0032c0024t0077 a0001c0004t0063 a0015c0063t0010 a0032c0024t0077	a0001c0004t0063g0095 a0015c0063t0010g0045 a0032c0024t0077g0104 a0001c0004t0063g0095 a0015c0063t0010g0045 a0032c0024t0077g0104	3	126	0.0238	20	c.303 others(39): Show c.303-21050_303-21031dupAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446757	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp1 NA19240.hp2 HG02572.hp1 NA19043.hp1 NA19240.hp2	a0001 a0018 a0001 a0018	a0001c0045 a0001c0093 a0018c0042 a0001c0045 a0001c0093 a0018c0042	a0001c0045t0012 a0001c0093t0009 a0018c0042t0004 a0001c0045t0012 a0001c0093t0009 a0018c0042t0004	a0001c0045t0012g0010 a0001c0093t0009g0007 a0018c0042t0004g0004 a0001c0045t0012g0010 a0001c0093t0009g0007 a0018c0042t0004g0004	3	126	0.0238	20	c.303 others(39): Show c.303-26693_303-26692insGACACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4578332	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02922.hp1 HG01884.hp2 HG02622.hp1 HG02922.hp1	a0002 a0022 a0002 a0022	a0002c0022 a0002c0030 a0022c0062 a0002c0022 a0002c0030 a0022c0062	a0002c0022t0036 a0002c0030t0016 a0022c0062t0056 a0002c0022t0036 a0002c0030t0016 a0022c0062t0056	a0002c0022t0036g0048 a0002c0030t0016g0122 a0022c0062t0056g0062 a0002c0022t0036g0048 a0002c0030t0016g0122 a0022c0062t0056g0062	3	126	0.0238	20	c.302 others(39): Show c.302+58990_302+59009dupAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4738903	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02683.hp2 HG03209.hp1 others(1): Show HG02559.hp1 HG02683.hp2 HG03209.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0020 a0001c0109 others(1): Show a0001c0004 a0001c0020 a0001c0109 a0002c0037	a0001c0004t0020 a0001c0020t0016 a0001c0109t0038 others(1): Show a0001c0004t0020 a0001c0020t0016 a0001c0109t0038 a0002c0037t0009	a0001c0004t0020g0086 a0001c0020t0016g0065 a0001c0109t0038g0013 others(1): Show a0001c0004t0020g0086 a0001c0020t0016g0065 a0001c0109t0038g0013 a0002c0037t0009g0046	4	126	0.0318	20	c.86- others(39): Show c.86-101346_86-101345insCACACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761912	A A	AATCTATC others(13): Show AATCTATCTATCAATCTATCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0003 a0002c0072t0003	a0002c0072t0003g0066 a0002c0072t0003g0066	1	126	0.0079	20	c.86- others(39): Show c.86-124355_86-124354insAGATAGATTGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761912	A A	AATCTATC others(13): Show AATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0037 a0037	a0037c0009 a0037c0009	a0037c0009t0001 a0037c0009t0001	a0037c0009t0001g0002 a0037c0009t0001g0002	1	126	0.0079	20	c.86- others(39): Show c.86-124374_86-124355dupAGATAGATAGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4841919	A A	ACAAAACA others(13): Show ACAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0018 a0018	a0018c0042 a0018c0042	a0018c0042t0004 a0018c0042t0004	a0018c0042t0004g0004 a0018c0042t0004g0004	1	126	0.0079	20	c.85+ others(39): Show c.85+152412_85+152413insGTTTTTTTTTTTTTGTTTTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4912135	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0019 a0019	a0019c0082 a0019c0082	a0019c0082t0052 a0019c0082t0052	a0019c0082t0052g0097 a0019c0082t0052g0097	1	126	0.0079	20	c.85+ others(37): Show c.85+82196_85+82197insCTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33544831	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0053 a0003c0004t0003g0054 a0003c0004t0003g0053 a0003c0004t0003g0054	2	66	0.0303	20	c.910 others(39): Show c.9100+1186_9100+1205dupTATATATATATATATATATA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	57/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33643889	T T	TGAAGGAA others(13): Show TGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0003 a0005c0012t0001g0003	1	66	0.0152	20	c.477 others(39): Show c.4774+2739_4774+2758dupCTTCCTTCCTTCCTTCCTTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	29/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33783431	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp1 HG02055.hp1 HG03225.hp1	a0004 a0007 a0004 a0007	a0004c0032 a0007c0021 a0004c0032 a0007c0021	a0004c0032t0001 a0007c0021t0004 a0004c0032t0001 a0007c0021t0004	a0004c0032t0001g0022 a0007c0021t0004g0023 a0004c0032t0001g0022 a0007c0021t0004g0023	2	66	0.0303	20	c.166 others(39): Show c.1663+5149_1663+5168dupGAGAGAGAGAGAGAGAGAGA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	12/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33862343	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0004 a0006c0016t0004	a0006c0016t0004g0034 a0006c0016t0004g0034	1	66	0.0152	20	c.921 others(39): Show c.921-15367_921-15348dupCACACACACACACACACACA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	5/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33950383	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0001 a0024c0018t0001	a0024c0018t0001g0048 a0024c0018t0001g0048	1	66	0.0152	20	c.518 others(39): Show c.518-14449_518-14430dupCTCTCTCTCTCTCTCTCTCT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33975486	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0038 a0013c0038	a0013c0038t0002 a0013c0038t0002	a0013c0038t0002g0007 a0013c0038t0002g0007	1	66	0.0152	20	c.518 others(39): Show c.518-39552_518-39533dupGTGTGTGTGTGTGTGTGTGT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34080921	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA20300.hp1 NA20805.hp2 HG02647.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0043 a0007c0022 a0001c0001 a0002c0043 a0007c0022	a0001c0001t0001 a0002c0043t0003 a0007c0022t0001 a0001c0001t0001 a0002c0043t0003 a0007c0022t0001	a0001c0001t0001g0033 a0002c0043t0003g0061 a0007c0022t0001g0060 a0001c0001t0001g0033 a0002c0043t0003g0061 a0007c0022t0001g0060	3	66	0.0455	20	c.404 others(37): Show c.404+8036_404+8055dupTTTCTTTCTTTCTTTCTTTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112405222	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	80	0.0125	20	c.580 others(39): Show c.5809+1301_5809+1302insGTATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405246	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19043.hp2 HG01109.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0002 a0001c0001t0004 a0002c0003t0002	a0001c0001t0004g0019 a0002c0003t0002g0051 a0001c0001t0004g0019 a0002c0003t0002g0051	2	80	0.0250	20	c.580 others(39): Show c.5809+1277_5809+1278insGTGTGTGTATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112410630	A A	ATATATAT others(13): Show ATATATATGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0077 a0002c0003t0008g0077	1	80	0.0125	20	c.539 others(39): Show c.5396-1599_5396-1598insCACATATATATACATATATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112458209	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0075 a0003c0002t0001g0075	1	80	0.0125	20	c.539 others(41): Show c.5395+14381_5395+14382insTGTGTGTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112458215	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02559.hp1 others(1): Show HG01109.hp1 HG02257.hp1 HG02559.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0003 others(1): Show a0001c0001 a0001c0018 a0002c0003 a0002c0027	a0001c0001t0004 a0001c0018t0003 a0002c0003t0002 others(1): Show a0001c0001t0004 a0001c0018t0003 a0002c0003t0002 a0002c0027t0003	a0001c0001t0004g0019 a0001c0018t0003g0018 a0002c0003t0002g0051 others(1): Show a0001c0001t0004g0019 a0001c0018t0003g0018 a0002c0003t0002g0051 a0002c0027t0003g0047	4	80	0.0500	20	c.539 others(41): Show c.5395+14375_5395+14376insTGTGTGTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112783412	A A	AGGAGGGA others(13): Show AGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19063.hp2 NA19240.hp2 others(1): Show HG02922.hp1 NA19063.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0024 others(1): Show a0001c0001 a0001c0006 a0001c0024 a0002c0010	a0001c0001t0003 a0001c0006t0003 a0001c0024t0001 others(1): Show a0001c0001t0003 a0001c0006t0003 a0001c0024t0001 a0002c0010t0002	a0001c0001t0003g0044 a0001c0006t0003g0055 a0001c0024t0001g0056 others(1): Show a0001c0001t0003g0044 a0001c0006t0003g0055 a0001c0024t0001g0056 a0002c0010t0002g0070	4	80	0.0500	20	c.197 others(41): Show c.1972+16749_1972+16750insCTCCCTCCCTCCCTCCCTCC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113048612	T T	TATGTATA others(13): Show TATGTATATATAAAGTAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	80	0.0125	20	c.918 others(39): Show c.918-29434_918-29433insTTTTTACTTTATATATACAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	5/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153130	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0038 a0007c0013t0001g0038	1	80	0.0125	20	c.709 others(39): Show c.709+20572_709+20591dupCTTCCTTCCTTCCTTCCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113156748	A A	ATAAATAA others(13): Show ATAAATAAATAAATAAATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0002 a0009c0034t0002	a0009c0034t0002g0012 a0009c0034t0002g0012	1	80	0.0125	20	c.709 others(39): Show c.709+16973_709+16974insATTATTTATTTATTTATTTA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113221354	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0005 a0002c0028t0005	a0002c0028t0005g0078 a0002c0028t0005g0078	1	80	0.0125	20	c.515 others(39): Show c.515-47458_515-47439dupGTGTGTGTGTGTGTGTGTGT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	3/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113289554	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0051 a0002c0003t0002g0051	1	80	0.0125	20	c.402 others(39): Show c.402-10870_402-10851dupCTCTCTCTCTCTCTCTCTCT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	2/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113329204	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp2 HG01074.hp2 HG01169.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0008 a0002c0003t0002 a0002c0003t0008	a0002c0003t0002g0007 a0002c0003t0008g0077 a0002c0003t0002g0007 a0002c0003t0008g0077	2	80	0.0250	20	c.179 others(39): Show c.179-14431_179-14412dupATTTATTTATTTATTTATTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113329233	A A	AAATAAAT others(13): Show AAATAAATAAATAAATAAATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG03225.hp1 HG02717.hp1 HG03041.hp2 HG03225.hp1	a0007 a0017 a0007 a0017	a0007c0013 a0007c0014 a0017c0015 a0007c0013 a0007c0014 a0017c0015	a0007c0013t0001 a0007c0014t0001 a0017c0015t0005 a0007c0013t0001 a0007c0014t0001 a0017c0015t0005	a0007c0013t0001g0038 a0007c0014t0001g0039 a0017c0015t0005g0040 a0007c0013t0001g0038 a0007c0014t0001g0039 a0017c0015t0005g0040	3	80	0.0375	20	c.179 others(39): Show c.179-14441_179-14440insCATTTATTTATTTATTTATT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113380248	G G	GTTTATCT others(13): Show GTTTATCTTATAACATTCTAA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0033 a0002c0005t0001g0033	1	80	0.0125	20	c.178 others(39): Show c.178+56409_178+56428dupTTAGAATGTTATAAGATAAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113399106	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	80	0.0125	20	c.178 others(39): Show c.178+37570_178+37571insGTGTATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113410900	T T	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02735.hp1 HG03516.hp1 others(1): Show HG01261.hp2 HG02735.hp1 HG03516.hp1 NA19043.hp2	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0003c0002 a0018c0026 a0001c0001 a0003c0002 a0018c0026	a0001c0001t0004 a0001c0001t0007 a0003c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0007 a0003c0002t0001 a0018c0026t0001	a0001c0001t0004g0019 a0001c0001t0007g0041 a0003c0002t0001g0059 others(1): Show a0001c0001t0004g0019 a0001c0001t0007g0041 a0003c0002t0001g0059 a0018c0026t0001g0057	4	80	0.0500	20	c.178 others(39): Show c.178+25757_178+25776dupTTTCTTTCTTTCTTTCTTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113410951	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0053 a0003c0002t0001g0053	1	80	0.0125	20	c.178 others(39): Show c.178+25725_178+25726insCTCTTTCTTTCTTTCTTTCT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542618	A A	ATATATAT others(13): Show ATATATATATATACATGTATG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0357	1	390	0.0026	20	c.230 others(37): Show c.230+7456_230+7457insCATACATGTATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544735	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02145.hp1 NA18991.hp2 HG00621.hp2 HG02145.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014	a0001c0001t0002g0367 a0001c0001t0011g0366 a0001c0001t0014g0012 a0001c0001t0002g0367 a0001c0001t0011g0366 a0001c0001t0014g0012	3	390	0.0077	20	c.230 others(37): Show c.230+5339_230+5340insTATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01109.hp2 others(13): Show HG00099.hp1 HG00639.hp1 HG01109.hp2 HG02451.hp2 HG02572.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp2 HG04228.hp1 NA18906.hp1 NA18966.hp1 NA18973.hp2 NA18983.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0025 a0001c0001t0045	a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 others(13): Show a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0171 a0001c0001t0008g0240 a0001c0001t0010g0119 a0001c0001t0016g0324 a0001c0001t0025g0118 a0001c0001t0045g0120	16	390	0.0410	20	c.230 others(37): Show c.230+5318_230+5337dupTATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544758	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	390	0.0051	20	c.230 others(37): Show c.230+5316_230+5317insGTGTATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp2 HG01496.hp1 others(14): Show HG01192.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02735.hp2 HG02818.hp2 HG02976.hp2 HG03130.hp1 HG03471.hp2 HG03834.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp1 NA19002.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0032 a0001c0002t0001 a0001c0002t0025	a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0066 others(14): Show a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0002g0018 a0001c0001t0004g0132 a0001c0001t0007g0111 a0001c0001t0007g0113 a0001c0001t0011g0108 a0001c0001t0012g0116 a0001c0001t0014g0007 a0001c0001t0032g0140 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0041 a0001c0002t0001g0099 a0001c0002t0025g0054	17	176	0.0966	20	c.-22 others(41): Show c.-225+12760_-225+12779dupGTGTGTGTGTGTGTGTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1939438	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG01943.hp2 others(16): Show HG00099.hp2 HG00609.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02132.hp2 HG02145.hp1 HG03017.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03710.hp1 NA18948.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0022 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0002 a0001c0002t0010	a0001c0001t0001g0004 a0001c0001t0001g0066 a0001c0001t0001g0070 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0022g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0190 a0001c0002t0002g0225 a0001c0002t0002g0234 a0001c0002t0010g0224	19	382	0.0497	20	c.-22 others(31): Show c.-2246_-2245insTTTTTTTTTTTTTTTTTTTT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding		1733		chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1946265	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA20129.hp1 HG01943.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0278 a0001c0001t0001g0279	2	382	0.0052	20	c.-26 others(39): Show c.-266+4847_-266+4848insATTTATTTATTTATTTATTT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1946289	T T	TATTTATT others(13): Show TATTTATTTATTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(107): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02698.hp2 HG02818.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp1 NA18990.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0010 a0011	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0004c0007 a0006c0008 a0010c0016 a0011c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0021 a0001c0002t0015 a0001c0011t0001 a0004c0007t0001 a0006c0008t0001 a0010c0016t0001 a0011c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0065 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0004g0126 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0154 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0017g0151 a0001c0001t0021g0107 a0001c0002t0015g0136 a0001c0011t0001g0099 a0004c0007t0001g0110 a0006c0008t0001g0108 a0010c0016t0001g0311 a0011c0006t0001g0173	110	382	0.2880	20	c.-26 others(39): Show c.-266+4871_-266+4872insATTTATTTATTATTTATTTA	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1946289	T T	TATTTATT others(13): Show TATTTATTTATTTATTATTTA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	382	0.0026	20	c.-26 others(39): Show c.-266+4871_-266+4872insATTTATTTATTTATTATTTA	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK2A1_chr20_467498_548790	485097	A A	AATAATAA others(13): Show AATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0280 a0001c0002t0015g0280	1	316	0.0032	20	c.106 others(39): Show c.1061-1022_1061-1021insATTATTATTATTATTATTAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485097	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	316	0.0032	20	c.106 others(39): Show c.1061-1022_1061-1021insATATATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485101	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp2 HG02615.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0225 a0001c0001t0026g0102 a0001c0001t0001g0225 a0001c0001t0026g0102	2	316	0.0063	20	c.106 others(39): Show c.1061-1026_1061-1025insATATATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0237 a0001c0001t0040g0237	1	316	0.0032	20	c.106 others(39): Show c.1061-1053_1061-1034dupATATATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	527001	C C	CAGACAGA others(13): Show CAGACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	316	0.0032	20	c.-11 others(37): Show c.-110+931_-110+932insCTCTCTCTCTCTCTCTGTCT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02896.hp1 NA18612.hp1 others(1): Show HG00741.hp2 HG02896.hp1 NA18612.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0251 a0001c0001t0001g0286 a0001c0001t0001g0296 others(1): Show a0001c0001t0001g0251 a0001c0001t0001g0286 a0001c0001t0001g0296 a0001c0001t0003g0245	4	400	0.0100	20	c.429 others(37): Show c.429+2473_429+2492dupATATATATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19080.hp2 NA19072.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	2	400	0.0050	20	c.429 others(37): Show c.429+2471_429+2472insAATATATATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88418463	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	386	0.0026	20	c.-27 others(41): Show c.-270-46624_-270-46623insTGTGTGTGTGCGCGCGCGCG	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88418463	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA21309.hp2 HG02572.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0011 a0004c0005 a0002c0011 a0004c0005	a0002c0011t0001 a0004c0005t0002 a0002c0011t0001 a0004c0005t0002	a0002c0011t0001g0199 a0004c0005t0002g0375 a0002c0011t0001g0199 a0004c0005t0002g0375	2	386	0.0052	20	c.-27 others(41): Show c.-270-46624_-270-46623insTGTGTGTGTGTGCGCGCGCG	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar

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