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
C22orf42_chr22_32144006_32164303	32145971	T T	TTATATAT others(33): Show TTATATATAATTATATAACTATATAACTATATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02572.hp1 others(4): Show HG02109.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG03516.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0012 a0003c0003t0002g0033 a0003c0003t0002g0012 a0003c0003t0002g0033	7	254	0.0276	40	c.35 others(51): Show c.3568_*3569insTTATATATTATATAGTTATATAGTTATATAATTA TATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3034		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146152	A A	ATATTATT others(33): Show ATATTATTATATAATATAACATATTATATATTATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG02809.hp2 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0087 a0002c0002t0002g0018 a0002c0002t0002g0087	2	372	0.0054	40	c.33 others(51): Show c.3387_*3388insATATATAATAATATATAATATGTTATATTATATA ATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2853		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146684	G G	GTATATAT others(33): Show GTATATATTATATATATTTATATGTATATATTATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	380	0.0026	40	c.28 others(51): Show c.2855_*2856insAATATATATAATATATACATATAAATATATATAA TATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2321		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(33): Show TTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02738.hp1 HG02970.hp1 others(1): Show HG01109.hp1 HG02738.hp1 HG02970.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0039 a0001c0001t0053 a0001c0002t0005 others(1): Show a0001c0001t0039 a0001c0001t0053 a0001c0002t0005 a0001c0003t0015	a0001c0001t0039g0346 a0001c0001t0053g0395 a0001c0002t0005g0303 others(1): Show a0001c0001t0039g0346 a0001c0001t0053g0395 a0001c0002t0005g0303 a0001c0003t0015g0312	4	242	0.0165	40	c.280 others(57): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74117145	T T	TATATATA others(33): Show TATATATATATGAATATATATATATGAATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0033 a0004c0004t0001g0034 a0004c0004t0001g0042 others(1): Show a0004c0004t0001g0033 a0004c0004t0001g0034 a0004c0004t0001g0042 a0004c0004t0001g0043	4	306	0.0131	40	c.152 others(59): Show c.1520+1043_1520+1082dupTCATATATATATATTCATATATATAT ATTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117361	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0080 a0002c0003t0005g0080	1	20	0.0500	40	c.152 others(57): Show c.1520+866_1520+867insATATATATATATATATATATATATATAT ATATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2orf16_chr2_27532386_27587722	27557917	A A	ATCCCCCC others(33): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01069.hp1 others(22): Show HG00099.hp1 HG00140.hp2 HG01069.hp1 HG01168.hp2 HG02071.hp1 HG02165.hp1 HG03017.hp1 HG03490.hp2 HG03834.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp2 NA18963.hp1 NA18969.hp1 NA18972.hp1 NA18979.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA19057.hp1 NA19068.hp2 NA19077.hp1 NA19078.hp2 NA19089.hp2 NA19091.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0009 a0002c0002 a0010c0009	a0002c0002t0001 a0010c0009t0001 a0002c0002t0001 a0010c0009t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0018 others(21): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0018 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0230 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0240 a0002c0002t0001g0248 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0292 a0010c0009t0001g0274	25	253	0.0988	40	c.145 others(57): Show c.145-7420_145-7419insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGACCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4			chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01943.hp2 HG02451.hp1 others(1): Show HG01070.hp2 HG01943.hp2 HG02451.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0031 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0031 a0001c0002t0002 a0002c0003t0002	a0001c0001t0003g0174 a0001c0001t0031g0157 a0001c0002t0002g0087 others(1): Show a0001c0001t0003g0174 a0001c0001t0031g0157 a0001c0002t0002g0087 a0002c0003t0002g0242	4	66	0.0606	40	c.334 others(57): Show c.334-3008_334-3007insATATATATATATATATATATATATATAT ATATATATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf70_chr3_185071838_185158060	185079280	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0311 a0001c0001t0075g0311	1	256	0.0039	40	c.37 others(51): Show c.3726_*3727insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	2/2	3726		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185134116	C C	CTCATATA others(33): Show CTCATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0352 a0001c0001t0011g0352	1	376	0.0027	40	c.196 others(59): Show c.196+18511_196+18512insATATATATATATATATATATATATAT ATATATATATATGA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C4BPB_chr1_207083860_207104993	207085615	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	380	0.0026	40	c.-33 others(51): Show c.-3382_-3381insATATATATATATATATATATATATATATATATAT ATATAT	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding		3244		chr1	TogoVar
C4BPB_chr1_207083860_207104993	207085621	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02055.hp1 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	2	382	0.0052	40	c.-33 others(51): Show c.-3376_-3375insATATATATATATATATATATATATATATATATAT ATATAA	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding		3238		chr1	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	55	0.0182	40	c.715 others(57): Show c.715-1621_715-1620insATATATATATATATATATATATATTTTT TTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C5orf15_chr5_133950510_133973625	133971061	C C	CGGGAGGC others(33): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 NA19077.hp1 HG00323.hp1 HG00544.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0002g0106 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0002g0106	3	379	0.0079	40	c.-24 others(51): Show c.-2478_-2477insCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG CCTCCC	C5orf15	ENSG00000113583.8	transcript	ENST00000231512.5	protein_coding		2437		chr5	TogoVar
C7orf50_chr7_992006_1143247	1016076	G G	GCAGCGCA others(33): Show GCAGCGCACAGCAGCACACGCCAGCACACAGCAGGATACGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02145.hp1 HG02976.hp2 others(1): Show HG01074.hp1 HG02145.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0230 a0001c0001t0005g0204 a0001c0001t0005g0268 others(1): Show a0001c0001t0002g0230 a0001c0001t0005g0204 a0001c0001t0005g0268 a0001c0001t0005g0311	4	324	0.0123	40	c.130 others(57): Show c.130-5934_130-5933insGCGTATCCTGCTGTGTGCTGGCGTGTGC TGCTGTGCGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1099213	C C	CCGGCCTC others(33): Show CCGGCCTCCCCTTCCGGAGCCTCGCTGTCGCGTTCCTGCAG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	324	0.0031	40	c.129 others(59): Show c.129+28004_129+28043dupCTGCAGGAACGCGACAGCGAGGCTCC GGAAGGGGAGGCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1135930	A A	AATATATA others(33): Show AATATATATAAGTATATATAAATATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01934.hp1 others(53): Show HG01243.hp1 HG01884.hp1 HG01934.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03927.hp2 HG06807.hp2 NA18612.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18962.hp1 NA18971.hp1 NA18972.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0027 a0001c0001t0028 a0002c0002t0003 a0002c0002t0018	a0001c0001t0002g0298 a0001c0001t0002g0315 a0001c0001t0003g0290 others(53): Show a0001c0001t0002g0298 a0001c0001t0002g0315 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0304 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0297 a0001c0001t0005g0308 a0001c0001t0005g0311 a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0012g0292 a0001c0001t0012g0305 a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0318 a0001c0001t0015g0316 a0001c0001t0015g0317 a0001c0001t0027g0193 a0001c0001t0028g0201 a0002c0002t0003g0288 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0319 a0002c0002t0003g0320 a0002c0002t0018g0202 a0002c0002t0018g0203	56	317	0.1767	40	c.-2+ others(55): Show c.-2+1384_-2+1385insATTTATATATACTTATATATTTATATATAC TTATATATAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68794505	A A	ATATAAAT others(33): Show ATATAAATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	66	0.0152	40	c.154 others(59): Show c.1549+6970_1549+6971insATAAATATATATATATATATATATAT ATATATTTTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C9orf152_chr9_110194561_110213159	110209892	A A	AAAGAGAA others(33): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01192.hp1 others(1): Show HG00099.hp1 HG01099.hp2 HG01192.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0001 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0008g0017 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0008g0017 a0001c0001t0014g0088	4	65	0.0615	40	c.-23 others(51): Show c.-2314_-2313insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209918	A A	AAGAGAAG others(33): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03540.hp2 HG02622.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0048 a0001c0003t0023 a0001c0003t0048	a0001c0003t0023g0052 a0001c0003t0048g0160 a0001c0003t0023g0052 a0001c0003t0048g0160	2	463	0.0043	40	c.-23 others(51): Show c.-2340_-2339insGCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1760		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209936	A A	AGAAGAGA others(33): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0051 a0001c0002t0022g0051	1	458	0.0022	40	c.-23 others(51): Show c.-2358_-2357insGCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTC	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1778		chr9	TogoVar
C9orf24_chr9_34374019_34402810	34397683	G G	GCTGGACA others(33): Show GCTGGACATCAGTGACCACCCTTCCCCTAGACAGGCCACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0273 a0001c0004t0004g0273	1	448	0.0022	40	c.-90 others(47): Show c.-90_-51dupGTGTGGCCTGTCTAGGGGAAGGGTGGTCACTGATGTCC AG	C9orf24	ENSG00000164972.14	transcript	ENST00000297623.7	protein_coding	1/7	51		chr9	TogoVar
CA10_chr17_51625320_52163714	51717648	C C	CACATATG others(33): Show CACATATGTGCATATATACATGTATATATGCACATATGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	114	0.0088	40	c.465 others(59): Show c.465+29984_465+29985insACACATATGTGCATATATACATGTAT ATATGCACATATGT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02273.hp1 HG03710.hp2 others(1): Show HG01516.hp1 HG02273.hp1 HG03710.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0092 others(1): Show a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0092 a0001c0002t0001g0026	4	44	0.0909	40	c.137 others(59): Show c.137-11407_137-11406insTATATATATATATATATATATATATA TATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18941.hp1 HG00408.hp2 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0250 a0001c0002t0004g0184 a0001c0002t0001g0250 a0001c0002t0004g0184	2	108	0.0185	40	c.29 others(51): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA8_chr8_60180412_60286400	60190938	C C	CACTATAT others(33): Show CACTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0287 a0001c0001t0016g0287	1	253	0.0040	40	c.36 others(55): Show c.36-954_*36-953insTATATATATATATATATATATATATATATA TATATATAGT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0061 a0001c0002t0005g0061	1	203	0.0049	40	c.36 others(55): Show c.36-973_*36-972insGTGTGTATATATATATATATATATATATAT ATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19084.hp2 NA18982.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0213 a0001c0001t0015g0244 a0001c0001t0015g0213 a0001c0001t0015g0244	2	204	0.0098	40	c.36 others(55): Show c.36-973_*36-972insGTGTATATATATATATATATATATATATAT ATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGAGAGG others(33): Show GAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	211	0.0047	40	c.-31 others(59): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCTCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01081.hp2 others(4): Show HG00639.hp1 HG00735.hp1 HG01081.hp2 HG01168.hp1 HG01257.hp2 HG01943.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0049 a0001c0001t0001g0209 a0001c0001t0002g0191 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0209 a0001c0001t0002g0191 a0001c0001t0002g0274 a0001c0002t0001g0215 a0001c0002t0002g0220 a0001c0002t0003g0032	7	217	0.0323	40	c.-31 others(59): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(33): Show GTTTTTTTGTTTTTTTTTTTTTTGTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0270 a0001c0001t0013g0270	1	63	0.0159	40	c.845 others(59): Show c.845+13607_845+13608insGTTTTTTTTTTTTTTGTTTTTGTTTT TTTTTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACFD1_chr9_133454978_133475848	133460471	C C	CGGCGGGG others(33): Show CGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01361.hp2 HG01433.hp1 others(11): Show HG01099.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp1 HG03041.hp1 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0044 a0001c0001t0003 a0001c0001t0007 a0001c0001t0044	a0001c0001t0003g0069 a0001c0001t0007g0003 a0001c0001t0007g0030 others(1): Show a0001c0001t0003g0069 a0001c0001t0007g0003 a0001c0001t0007g0030 a0001c0001t0044g0003	14	202	0.0693	40	c.121 others(55): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG GGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13255724	T T	TCTCCCTC others(33): Show TCTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02723.hp2 others(2): Show HG02258.hp2 HG02280.hp2 HG02723.hp2 HG02809.hp2 HG03540.hp1	a0001 a0003 a0017 others(1): Show a0001 a0003 a0017 a0031	a0001c0071 a0003c0094 a0003c0108 others(2): Show a0001c0071 a0003c0094 a0003c0108 a0017c0078 a0031c0059	a0001c0071t0003 a0003c0094t0002 a0003c0108t0005 others(2): Show a0001c0071t0003 a0003c0094t0002 a0003c0108t0005 a0017c0078t0008 a0031c0059t0007	a0001c0071t0003g0138 a0003c0094t0002g0208 a0003c0108t0005g0210 others(2): Show a0001c0071t0003g0138 a0003c0094t0002g0208 a0003c0108t0005g0210 a0017c0078t0008g0149 a0031c0059t0007g0001	5	170	0.0294	40	c.459 others(57): Show c.4591-466_4591-465insGGAAGGAGGGAAGGAGGGAGGGAGGGAA GGAGGGAGGGAG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0020 a0009c0014t0020	a0009c0014t0020g0175 a0009c0014t0020g0175	1	86	0.0116	40	c.785 others(55): Show c.785-467_785-466insTATATATATATATATATATATATATATATA TATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0002 a0003c0056t0002	a0003c0056t0002g0065 a0003c0056t0002g0065	1	150	0.0067	40	c.-38 others(51): Show c.-3812_-3811insCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0045 a0020c0021t0001g0045	1	150	0.0067	40	c.-38 others(51): Show c.-3812_-3811insCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137923369	G G	GGTATTCC others(33): Show GGTATTCCGTGGCTCCAGGTGGTATTCCGTGGTGCCAGGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0011 a0002c0024t0011	a0002c0024t0011g0160 a0002c0024t0011g0162 a0002c0024t0011g0160 a0002c0024t0011g0162	2	241	0.0083	40	c.966 others(57): Show c.966+5950_966+5951insTCCAGGTGGTATTCCGTGGTGCCAGGTA GTATTCCGTGGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG02258.hp2 HG00642.hp1 HG01261.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0009 a0002c0002 a0001c0004 a0001c0009 a0002c0002	a0001c0004t0002 a0001c0009t0078 a0002c0002t0002 a0001c0004t0002 a0001c0009t0078 a0002c0002t0002	a0001c0004t0002g0160 a0001c0009t0078g0040 a0002c0002t0002g0143 a0001c0004t0002g0160 a0001c0009t0078g0040 a0002c0002t0002g0143	3	127	0.0236	40	c.620 others(57): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT ATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201077201	G G	GGGGGAAA others(33): Show GGGGGAAAGACTCAGGACTGATGTGACACAGAGACAGGCTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0029 a0029	a0029c0062 a0029c0062	a0029c0062t0001 a0029c0062t0001	a0029c0062t0001g0243 a0029c0062t0001g0243	1	312	0.0032	40	c.162 others(55): Show c.1620-75_1620-74insAAGCCTGTCTCTGTGTCACATCAGTCCTGA GTCTTTCCCC	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	11/43			chr1	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	82	0.0122	40	c.204 others(59): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGTGTGCG CGCGCGCGCGCGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54249568	C C	CACACACA others(33): Show CACACACACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	115	0.0087	40	c.205 others(59): Show c.205-70854_205-70853insACACACACACACACACACAGACACAC ACACACACACACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54338467	C C	CTCTGTGT others(33): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0086 a0001c0034t0001g0086	1	23	0.0435	40	c.321 others(59): Show c.321+17910_321+17911insCTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(33): Show GTGTATATATATATATATTGCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 NA19068.hp1 HG01070.hp1 HG01106.hp1 NA19068.hp1	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0001 a0001c0004t0002 a0001c0017t0001 a0001c0004t0001 a0001c0004t0002 a0001c0017t0001	a0001c0004t0001g0007 a0001c0004t0002g0008 a0001c0017t0001g0025 a0001c0004t0001g0007 a0001c0004t0002g0008 a0001c0017t0001g0025	3	39	0.0769	40	c.382 others(59): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATATATATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736052	C C	CATATATA others(33): Show CATATATATATGTATATATATGTATATATATATACATACAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp2 HG01070.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0110 a0001c0003t0006g0064 a0001c0003t0001g0110 a0001c0003t0006g0064	2	61	0.0328	40	c.116 others(61): Show c.1168-16543_1168-16542insATATATGTATATATATGTATATAT ATATACATACATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736103	A A	ACATATAT others(33): Show ACATATATATATGTATATATATATACATACATATATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02080.hp1 HG00423.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0101 a0001c0006t0001g0009 a0001c0003t0001g0101 a0001c0006t0001g0009	2	100	0.0200	40	c.116 others(61): Show c.1168-16496_1168-16495insCATATATATATGTATATATATATA CATACATATATATATG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763804	T T	TATATACG others(33): Show TATATACGTATATATACGTATATATATGTATATATATGTAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02615.hp2 HG01169.hp2 HG02615.hp2	a0001 a0001	a0001c0010 a0001c0036 a0001c0010 a0001c0036	a0001c0010t0001 a0001c0036t0005 a0001c0010t0001 a0001c0036t0005	a0001c0010t0001g0065 a0001c0036t0005g0002 a0001c0010t0001g0065 a0001c0036t0005g0002	2	115	0.0174	40	c.124 others(57): Show c.1247-409_1247-408insCGTATATATACGTATATATATGTATATA TATGTACATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763814	T T	TATATATA others(33): Show TATATATACGTATATATATGTATATATGTACATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG03098.hp2 HG02486.hp2 HG02922.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0031 a0001c0038 a0001c0001 a0001c0031 a0001c0038	a0001c0001t0003 a0001c0031t0001 a0001c0038t0010 a0001c0001t0003 a0001c0031t0001 a0001c0038t0010	a0001c0001t0003g0058 a0001c0031t0001g0032 a0001c0038t0010g0059 a0001c0001t0003g0058 a0001c0031t0001g0032 a0001c0038t0010g0059	3	81	0.0370	40	c.124 others(57): Show c.1247-397_1247-396insCGTATATATATGTATATATGTACATATA TATACATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18181562	T T	TTTTTATT others(33): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0013 a0001c0001t0026g0013	1	33	0.0303	40	c.213 others(59): Show c.213+30617_213+30656dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18325689	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	155	0.0065	40	c.214 others(59): Show c.214-76232_214-76231insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18325689	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0120 a0001c0001t0031g0120	1	155	0.0065	40	c.214 others(59): Show c.214-76232_214-76231insCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar

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