Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
CACNA1D_chr3_53489611_53818733	53672758	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02257.hp2 HG02559.hp2 others(2): Show HG02132.hp2 HG02257.hp2 HG02559.hp2 NA19004.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0012 a0001c0002 a0001c0004 a0001c0012	a0001c0002t0005 a0001c0002t0010 a0001c0002t0016 others(2): Show a0001c0002t0005 a0001c0002t0010 a0001c0002t0016 a0001c0004t0002 a0001c0012t0027	a0001c0002t0005g0098 a0001c0002t0010g0195 a0001c0002t0016g0115 others(2): Show a0001c0002t0005g0098 a0001c0002t0010g0195 a0001c0002t0016g0115 a0001c0004t0002g0055 a0001c0012t0027g0193	5	20	0.2500	-18	c.111 others(35): Show c.1117-911_1117-894delGTGTGTGTGTGTGTGTGT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53691731	TATATATA others(11): Show TATATATATTACATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02572.hp2 others(2): Show HG01884.hp1 HG02145.hp2 HG02572.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0021	a0001c0001t0066 a0001c0002t0019 a0001c0002t0030 others(2): Show a0001c0001t0066 a0001c0002t0019 a0001c0002t0030 a0001c0007t0030 a0001c0021t0035	a0001c0001t0066g0045 a0001c0002t0019g0029 a0001c0002t0030g0196 others(2): Show a0001c0001t0066g0045 a0001c0002t0019g0029 a0001c0002t0030g0196 a0001c0007t0030g0008 a0001c0021t0035g0205	5	208	0.0240	-18	c.122 others(39): Show c.1221-10893_1221-10876delTAATATATATTACATATA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713494	CTGTGTGT others(11): Show CTGTGTGTATGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02886.hp1 others(3): Show HG02280.hp2 HG02647.hp2 HG02886.hp1 HG02976.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0028 a0001c0002t0062 a0001c0002t0063 others(3): Show a0001c0002t0028 a0001c0002t0062 a0001c0002t0063 a0001c0002t0069 a0001c0002t0082 a0001c0025t0079	a0001c0002t0028g0188 a0001c0002t0062g0191 a0001c0002t0063g0042 others(3): Show a0001c0002t0028g0188 a0001c0002t0062g0191 a0001c0002t0063g0042 a0001c0002t0069g0043 a0001c0002t0082g0209 a0001c0025t0079g0041	6	201	0.0299	-18	c.139 others(37): Show c.1391-4799_1391-4782delATGTGTGTGTGTGTGTGT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181718611	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0070 a0001c0001t0066g0070	1	35	0.0286	-18	c.163 others(35): Show c.1638+483_1638+500delACACACACACACACACAC		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	12/47					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1165960	CATCTTTT others(11): Show CATCTTTTAATTGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0036 a0003c0060t0036	a0003c0060t0036g0317 a0003c0060t0036g0317	1	336	0.0030	-18	c.299 others(37): Show c.299+11925_299+11942delATCTTTTAATTGTGGTGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34						chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1181943	CGCCCCCT others(11): Show CGCCCCCTCGCACACGCAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG03516.hp2 HG02109.hp2 HG02280.hp2 HG03516.hp2	a0003 a0049 a0003 a0049	a0003c0022 a0049c0065 a0003c0022 a0049c0065	a0003c0022t0019 a0003c0022t0026 a0049c0065t0007 a0003c0022t0019 a0003c0022t0026 a0049c0065t0007	a0003c0022t0019g0024 a0003c0022t0026g0025 a0049c0065t0007g0201 a0003c0022t0019g0024 a0003c0022t0026g0025 a0049c0065t0007g0201	3	334	0.0090	-18	c.300 others(37): Show c.300-13008_300-12991delCCCCTCGCACACGCATGC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1189397	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01261.hp2 others(17): Show HG00558.hp1 HG00558.hp2 HG01261.hp2 HG01884.hp1 HG02055.hp2 HG02074.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03540.hp1 HG04204.hp1 NA18959.hp2 NA18980.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0027 a0039 a0044 a0058 a0072	a0001c0001 a0002c0002 a0002c0007 others(12): Show a0001c0001 a0002c0002 a0002c0007 a0002c0008 a0002c0012 a0002c0063 a0003c0015 a0003c0028 a0003c0060 a0005c0023 a0027c0045 a0039c0074 a0044c0130 a0058c0048 a0072c0118	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(16): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 a0002c0007t0010 a0002c0008t0018 a0002c0012t0001 a0002c0012t0002 a0002c0063t0001 a0003c0015t0011 a0003c0015t0017 a0003c0028t0004 a0003c0060t0036 a0005c0023t0003 a0027c0045t0005 a0039c0074t0001 a0044c0130t0004 a0058c0048t0016 a0072c0118t0010	a0001c0001t0002g0194 a0002c0002t0001g0284 a0002c0002t0002g0123 others(17): Show a0001c0001t0002g0194 a0002c0002t0001g0284 a0002c0002t0002g0123 a0002c0007t0002g0238 a0002c0007t0010g0084 a0002c0008t0018g0030 a0002c0012t0001g0318 a0002c0012t0002g0049 a0002c0012t0002g0333 a0002c0063t0001g0287 a0003c0015t0011g0014 a0003c0015t0017g0272 a0003c0028t0004g0027 a0003c0060t0036g0317 a0005c0023t0003g0196 a0027c0045t0005g0275 a0039c0074t0001g0283 a0044c0130t0004g0315 a0058c0048t0016g0031 a0072c0118t0010g0195	20	108	0.1852	-18	c.300 others(35): Show c.300-5555_300-5538delTTTTTTTTTTTTTTTTTT		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1200147	CTGATCAC others(11): Show CTGATCACGTCCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01243.hp1 HG01261.hp2 others(30): Show HG00558.hp2 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG02074.hp2 HG02132.hp1 HG02258.hp1 HG02280.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG04204.hp1 HG06807.hp2 NA18959.hp2 NA18967.hp2 NA18979.hp2 NA18980.hp1 NA19005.hp1 NA19030.hp1 NA19065.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0002 a0003 a0005 others(9): Show a0002 a0003 a0005 a0022 a0027 a0044 a0047 a0049 a0059 a0064 a0065 a0072	a0002c0007 a0002c0011 a0002c0025 others(17): Show a0002c0007 a0002c0011 a0002c0025 a0002c0043 a0002c0057 a0003c0015 a0003c0068 a0003c0132 a0003c0133 a0005c0056 a0022c0064 a0022c0066 a0027c0045 a0044c0130 a0047c0069 a0049c0065 a0059c0044 a0064c0049 a0065c0067 a0072c0118	a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 others(24): Show a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0007t0010 a0002c0011t0001 a0002c0011t0002 a0002c0011t0005 a0002c0025t0001 a0002c0043t0001 a0002c0057t0002 a0003c0015t0004 a0003c0015t0011 a0003c0015t0017 a0003c0068t0004 a0003c0132t0028 a0003c0133t0004 a0005c0056t0035 a0022c0064t0030 a0022c0066t0023 a0027c0045t0005 a0044c0130t0004 a0047c0069t0003 a0049c0065t0007 a0059c0044t0006 a0064c0049t0004 a0065c0067t0019 a0072c0118t0010	a0002c0007t0001g0028 a0002c0007t0001g0029 a0002c0007t0002g0238 others(30): Show a0002c0007t0001g0028 a0002c0007t0001g0029 a0002c0007t0002g0238 a0002c0007t0003g0094 a0002c0007t0003g0095 a0002c0007t0003g0309 a0002c0007t0010g0084 a0002c0011t0001g0224 a0002c0011t0001g0289 a0002c0011t0002g0200 a0002c0011t0002g0202 a0002c0011t0005g0274 a0002c0025t0001g0222 a0002c0025t0001g0225 a0002c0043t0001g0203 a0002c0057t0002g0138 a0003c0015t0004g0082 a0003c0015t0011g0014 a0003c0015t0017g0272 a0003c0068t0004g0290 a0003c0132t0028g0277 a0003c0133t0004g0045 a0005c0056t0035g0223 a0022c0064t0030g0276 a0022c0066t0023g0231 a0027c0045t0005g0275 a0044c0130t0004g0315 a0047c0069t0003g0048 a0049c0065t0007g0201 a0059c0044t0006g0193 a0064c0049t0004g0321 a0065c0067t0019g0323 a0072c0118t0010g0195	33	336	0.0982	-18	c.804 others(31): Show c.804-93_804-76delCCTTGATCACGTCCCTGA		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39616770	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0004 a0006c0012t0004	a0006c0012t0004g0031 a0006c0012t0004g0031	1	234	0.0043	-18	c.483 others(35): Show c.483-2535_483-2518delAAAAAAAAAAAAAGAAAA		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82000771	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	21	0.0476	-18	c.159 others(37): Show c.1591-3539_1591-3522delAAAAAAAAAAAAAAAAAA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	18/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111394	GTATATAT others(11): Show GTATATATATATTCATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 HG02572.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0003 a0001c0001t0001 a0001c0007t0003	a0001c0001t0001g0087 a0001c0007t0003g0075 a0001c0001t0001g0087 a0001c0007t0003g0075	2	107	0.0187	-18	c.526 others(35): Show c.526+5632_526+5649delTATATGAATATATATATA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82192460	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01891.hp1 others(9): Show HG01069.hp2 HG01071.hp1 HG01891.hp1 HG02027.hp2 HG02451.hp1 HG02698.hp2 HG03041.hp1 HG03579.hp1 HG06807.hp1 NA18961.hp2 NA18995.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0022 a0001c0002t0001	a0001c0001t0004g0044 a0001c0001t0004g0056 a0001c0001t0004g0074 others(9): Show a0001c0001t0004g0044 a0001c0001t0004g0056 a0001c0001t0004g0074 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0007g0015 a0001c0001t0008g0083 a0001c0001t0022g0119 a0001c0002t0001g0018 a0001c0002t0001g0041	12	16	0.7500	-18	c.295 others(37): Show c.295-21869_295-21852delCACACACACACACACACA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332524	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG01261.hp1 others(18): Show HG00621.hp2 HG01123.hp1 HG01261.hp1 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02451.hp2 HG02698.hp2 HG04184.hp1 HG06807.hp2 NA18952.hp2 NA18961.hp2 NA18968.hp1 NA18981.hp1 NA18986.hp1 NA18995.hp2 NA19007.hp1 NA19007.hp2 NA19057.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0023 a0001c0008t0001	a0001c0001t0001g0049 a0001c0001t0002g0099 a0001c0001t0002g0133 others(18): Show a0001c0001t0001g0049 a0001c0001t0002g0099 a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0039 a0001c0001t0003g0052 a0001c0001t0004g0040 a0001c0001t0004g0044 a0001c0001t0004g0056 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0110 a0001c0001t0006g0093 a0001c0001t0006g0116 a0001c0001t0006g0124 a0001c0001t0015g0006 a0001c0001t0023g0144 a0001c0008t0001g0004	21	142	0.1479	-18	c.294 others(35): Show c.294+2593_294+2610delCTTTCTTTCTTTCTTTCT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54141080	TGTGTGTG others(11): Show TGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG02080.hp1 HG00639.hp2 HG01192.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0042 a0001c0003 a0001c0018 a0001c0042	a0001c0003t0001 a0001c0018t0001 a0001c0042t0001 a0001c0003t0001 a0001c0018t0001 a0001c0042t0001	a0001c0003t0001g0101 a0001c0018t0001g0076 a0001c0042t0001g0078 a0001c0003t0001g0101 a0001c0018t0001g0076 a0001c0042t0001g0078	3	116	0.0259	-18	c.204 others(37): Show c.204+17495_204+17512delGCGCGCGCGCGTGTGTGC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149914	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19043.hp2 HG03041.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0012 a0001c0005t0001 a0001c0001t0012 a0001c0005t0001	a0001c0001t0012g0063 a0001c0005t0001g0005 a0001c0001t0012g0063 a0001c0005t0001g0005	2	116	0.0172	-18	c.204 others(37): Show c.204+26324_204+26341delTCTCTCTCTCTCTCCCTC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149918	TCTCTCTC others(11): Show TCTCTCTCTCTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0043 a0001c0005 a0001c0043	a0001c0005t0001 a0001c0043t0001 a0001c0005t0001 a0001c0043t0001	a0001c0005t0001g0052 a0001c0043t0001g0051 a0001c0005t0001g0052 a0001c0043t0001g0051	2	115	0.0174	-18	c.204 others(37): Show c.204+26328_204+26345delTCTCTCTCTCCCTCCCTC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54546698	GCACACAC others(11): Show GCACACACACACGCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(44): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01884.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18951.hp1 NA18951.hp2 NA18979.hp1 NA19030.hp1 NA19068.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0015 a0001c0017 a0001c0031 a0001c0039 a0001c0040 a0001c0042 a0001c0043 a0002c0020	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0008 a0001c0011t0001 a0001c0011t0006 a0001c0012t0005 a0001c0015t0001 a0001c0017t0001 a0001c0031t0001 a0001c0039t0001 a0001c0040t0001 a0001c0042t0001 a0001c0043t0001 a0002c0020t0001	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 others(44): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0002t0001g0040 a0001c0002t0001g0070 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0115 a0001c0002t0002g0066 a0001c0002t0004g0001 a0001c0003t0001g0026 a0001c0003t0001g0084 a0001c0003t0001g0112 a0001c0003t0006g0064 a0001c0004t0001g0007 a0001c0004t0001g0022 a0001c0004t0001g0031 a0001c0004t0002g0008 a0001c0005t0001g0005 a0001c0005t0001g0052 a0001c0005t0001g0111 a0001c0006t0001g0009 a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0008t0001g0103 a0001c0009t0008g0077 a0001c0011t0001g0099 a0001c0011t0006g0056 a0001c0012t0005g0027 a0001c0015t0001g0072 a0001c0015t0001g0108 a0001c0017t0001g0025 a0001c0031t0001g0032 a0001c0039t0001g0047 a0001c0040t0001g0117 a0001c0042t0001g0078 a0001c0043t0001g0051 a0002c0020t0001g0021	47	116	0.4052	-18	c.545 others(37): Show c.545-16090_545-16073delGCGCGCACACACACACAC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	5/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54661838	ATGTGTGT others(11): Show ATGTGTGTATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(37): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00673.hp1 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01884.hp2 HG01934.hp1 HG02080.hp1 HG02280.hp1 HG02300.hp2 HG02615.hp1 HG02630.hp1 HG02895.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG04115.hp1 HG04204.hp1 NA18951.hp2 NA18979.hp1 NA19043.hp1 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0021 a0001c0027 a0001c0029 a0001c0034 a0001c0035 a0001c0040 a0001c0041	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0009t0008 a0001c0010t0006 a0001c0015t0001 a0001c0016t0005 a0001c0017t0001 a0001c0019t0001 a0001c0021t0002 a0001c0027t0001 a0001c0029t0001 a0001c0034t0001 a0001c0035t0001 a0001c0040t0001 a0001c0041t0001	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0033 others(37): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0002t0001g0020 a0001c0002t0001g0040 a0001c0002t0001g0081 a0001c0002t0004g0001 a0001c0003t0001g0011 a0001c0003t0001g0038 a0001c0003t0001g0042 a0001c0003t0001g0054 a0001c0003t0001g0084 a0001c0003t0001g0094 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0003t0006g0064 a0001c0004t0001g0007 a0001c0004t0001g0031 a0001c0004t0001g0095 a0001c0004t0002g0008 a0001c0009t0008g0077 a0001c0010t0006g0062 a0001c0015t0001g0072 a0001c0015t0001g0108 a0001c0016t0005g0116 a0001c0017t0001g0025 a0001c0019t0001g0075 a0001c0021t0002g0023 a0001c0027t0001g0014 a0001c0029t0001g0096 a0001c0034t0001g0086 a0001c0035t0001g0049 a0001c0040t0001g0117 a0001c0041t0001g0085	40	57	0.7018	-18	c.116 others(39): Show c.1167+19605_1167+19622delATGTGTGTGTGTGTGTGT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54667101	TTCTCATG others(11): Show TTCTCATGTTAATTACTCA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0089 a0001c0028t0001g0089	1	116	0.0086	-18	c.116 others(39): Show c.1167+24864_1167+24881delCATGTTAATTACTCATCT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736102	TATATATG others(11): Show TATATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02965.hp1 others(4): Show HG02572.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0009 others(3): Show a0001c0002 a0001c0005 a0001c0009 a0001c0014 a0001c0022 a0001c0039	a0001c0002t0001 a0001c0005t0001 a0001c0009t0001 others(3): Show a0001c0002t0001 a0001c0005t0001 a0001c0009t0001 a0001c0014t0001 a0001c0022t0001 a0001c0039t0001	a0001c0002t0001g0070 a0001c0005t0001g0005 a0001c0005t0001g0088 others(4): Show a0001c0002t0001g0070 a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0009t0001g0013 a0001c0014t0001g0071 a0001c0022t0001g0041 a0001c0039t0001g0047	7	114	0.0614	-18	c.116 others(39): Show c.1168-16490_1168-16473delGTATATATATACATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54871043	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03195.hp1 others(2): Show HG02280.hp2 HG02965.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0021	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0001c0021t0002	a0001c0001t0001g0104 a0001c0002t0001g0070 a0001c0005t0001g0088 others(2): Show a0001c0001t0001g0104 a0001c0002t0001g0070 a0001c0005t0001g0088 a0001c0007t0001g0067 a0001c0021t0002g0023	5	7	0.7143	-18	c.162 others(35): Show c.1627-463_1627-446delACACACACACACACACAC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	17/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54874620	TTATTTAT others(11): Show TTATTTATCACAGTGAACC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00673.hp1 others(19): Show HG00280.hp1 HG00423.hp1 HG00673.hp1 HG01106.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01934.hp2 HG02080.hp1 HG02080.hp2 HG02300.hp2 HG02572.hp2 HG03239.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18979.hp2 NA19068.hp1 NA19068.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0001c0015 a0001c0019 a0001c0022 a0001c0027 a0001c0028 a0001c0033 a0001c0041 a0001c0042	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0009t0008 a0001c0011t0001 a0001c0015t0001 a0001c0019t0001 a0001c0022t0001 a0001c0027t0001 a0001c0028t0001 a0001c0033t0001 a0001c0041t0001 a0001c0042t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0046 others(19): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0002t0001g0004 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0101 a0001c0004t0001g0007 a0001c0004t0002g0008 a0001c0006t0001g0009 a0001c0009t0008g0077 a0001c0011t0001g0099 a0001c0015t0001g0072 a0001c0019t0001g0075 a0001c0022t0001g0041 a0001c0027t0001g0014 a0001c0028t0001g0089 a0001c0033t0001g0114 a0001c0041t0001g0085 a0001c0042t0001g0078	22	116	0.1897	-18	c.171 others(37): Show c.1710+3002_1710+3019delTTATCACAGTGAACCTAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	18/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55038864	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG03098.hp2 HG01884.hp2 HG02622.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0001 a0001c0038t0010 a0001c0001t0001 a0001c0038t0010	a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0038t0010g0059 a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0038t0010g0059	3	15	0.2000	-18	c.298 others(39): Show c.2987+20574_2987+20591delTATATATATATATATATA		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18152722	AAAAAAAA others(11): Show AAAAAAAAAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp2 HG03486.hp2 HG02723.hp1 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002	a0001c0001t0006g0005 a0001c0001t0008g0007 a0001c0002t0002g0004 a0001c0001t0006g0005 a0001c0001t0008g0007 a0001c0002t0002g0004	3	200	0.0150	-18	c.213 others(35): Show c.213+1752_213+1769delAAAAAACAAAAAACAAAA		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18220110	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp2 others(16): Show HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02922.hp2 HG03471.hp2 HG03486.hp2 HG04199.hp1 NA18952.hp1 NA19002.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0002t0002 a0001c0002t0005 a0001c0004t0010 a0002c0003t0018	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0049 others(16): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0003g0080 a0001c0001t0003g0173 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0007g0039 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0013g0138 a0001c0002t0002g0004 a0001c0002t0005g0136 a0001c0004t0010g0084 a0001c0004t0010g0085 a0002c0003t0018g0111	19	99	0.1919	-18	c.213 others(37): Show c.213+69163_213+69180delTATATATATATATATATA		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18472221	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	11	0.0909	-18	c.334 others(37): Show c.334-26118_334-26101delTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481216	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0037 a0001c0002t0005g0037	1	192	0.0052	-18	c.334 others(37): Show c.334-17137_334-17120delATATATATATATATTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536257	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTGG	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0150 a0001c0001t0004g0150	1	200	0.0050	-18	c.130 others(33): Show c.1302+62_1302+79delTTTTTTTTTTTTTTTTGG		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13						chr10	TogoVar
CACNB2_chr10_18335709_18548557	18335784	AACACACA others(11): Show AACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA19067.hp2 NA18979.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0061 a0001c0001t0001 a0001c0001t0061	a0001c0001t0001g0130 a0001c0001t0061g0172 a0001c0001t0001g0130 a0001c0001t0061g0172	2	31	0.0645	-18	c.-51 others(29): Show c.-5142_-5125delACACACACACACACACAC		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding					4924		chr10	TogoVar
CACNB2_chr10_18335709_18548557	18472221	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	17	0.0588	-18	c.172 others(37): Show c.172-26118_172-26101delTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481214	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18944.hp2 NA18953.hp2 others(2): Show HG01975.hp1 NA18944.hp2 NA18953.hp2 NA18975.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0004 a0001c0002t0042 a0001c0001t0015 a0001c0002t0004 a0001c0002t0042	a0001c0001t0015g0111 a0001c0002t0004g0094 a0001c0002t0004g0191 others(2): Show a0001c0001t0015g0111 a0001c0002t0004g0094 a0001c0002t0004g0191 a0001c0002t0004g0227 a0001c0002t0042g0069	5	289	0.0173	-18	c.172 others(37): Show c.172-17139_172-17122delATATATATATATATATTT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481216	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18985.hp1 NA18960.hp2 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0038 a0001c0002t0004 a0001c0002t0038	a0001c0002t0004g0099 a0001c0002t0038g0212 a0001c0002t0004g0099 a0001c0002t0038g0212	2	290	0.0069	-18	c.172 others(37): Show c.172-17137_172-17120delATATATATATATATTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18487600	CGAGGTGG others(11): Show CGAGGTGGGTGGATCATCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0043 a0001c0004t0026g0043	1	300	0.0033	-18	c.172 others(37): Show c.172-10749_172-10732delGGGTGGATCATCTGAGGT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495545	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	114	0.0088	-18	c.172 others(35): Show c.172-2780_172-2763delGTGTGTGTGTGTGTGTGT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536257	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTGG	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19002.hp1 NA19057.hp2 NA18975.hp1 NA19002.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0118 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0118	3	300	0.0100	-18	c.114 others(33): Show c.1140+62_1140+79delTTTTTTTTTTTTTTTTGG		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12						chr10	TogoVar
CACNB4_chr2_151827771_152104044	151863807	ATTTGCTA others(11): Show ATTTGCTAATACAAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0072 a0001c0001t0032g0074 a0001c0001t0001g0072 a0001c0001t0032g0074	2	230	0.0087	-18	c.759 others(35): Show c.759-3005_759-2988delCTAACTTGTATTAGCAAA		CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13						chr2	TogoVar
CACNB4_chr2_151827771_152104044	151895094	CCCCACAC others(11): Show CCCCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	67	0.0149	-18	c.148 others(37): Show c.148-11742_148-11725delTGTGTGTGTGTGTGTGGG		CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13						chr2	TogoVar
CACNB4_chr2_151827771_152104044	151957257	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0088 a0001c0003t0016g0088	1	32	0.0313	-18	c.148 others(37): Show c.148-73905_148-73888delACACACACACACACACAC		CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13						chr2	TogoVar
CACNG1_chr17_67039554_67061797	67049558	TATTCTAC others(11): Show TATTCTACAGGTGGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01496.hp2 HG01943.hp1 others(10): Show HG00733.hp2 HG01496.hp2 HG01943.hp1 HG01952.hp1 HG02165.hp2 HG02293.hp2 HG02602.hp2 HG03942.hp1 NA18940.hp1 NA19068.hp2 NA19081.hp1 NA19091.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0049 a0002c0002t0001g0009 a0001c0001t0001g0009 a0001c0001t0001g0049 a0002c0002t0001g0009	13	426	0.0305	-18	c.230 others(35): Show c.230-4424_230-4407delTTCTCATTCTACAGGTGG		CACNG1	ENSG00000108878.5	transcript	ENST00000226021.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG2_chr22_36555857_36708752	36645536	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(135): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18961.hp2 NA18963.hp1 NA18975.hp2 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(77): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0003g0142 a0001c0001t0003g0160 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0018 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0051 a0001c0001t0004g0058 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0005g0110 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0134 a0001c0001t0006g0143 a0001c0001t0006g0145 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0163 a0001c0001t0006g0175 a0001c0001t0007g0092 a0001c0001t0008g0140 a0001c0001t0008g0151 a0001c0001t0008g0174 a0001c0001t0009g0111 a0001c0001t0009g0119 a0001c0001t0009g0121 a0001c0001t0009g0122 a0001c0001t0010g0059 a0001c0001t0010g0068 a0001c0001t0011g0103 a0001c0001t0011g0106 a0001c0001t0012g0149 a0001c0001t0012g0173 a0001c0001t0013g0183 a0001c0001t0013g0184 a0001c0001t0013g0192 a0001c0001t0014g0084 a0001c0001t0015g0006 a0001c0001t0015g0042 a0001c0001t0016g0093 a0001c0001t0018g0027 a0001c0001t0018g0035 a0001c0001t0020g0102 a0001c0001t0020g0104 a0001c0001t0021g0114 a0001c0001t0021g0118 a0001c0001t0022g0129 a0001c0001t0022g0132 a0001c0001t0023g0115 a0001c0001t0023g0131 a0001c0001t0024g0164 a0001c0001t0025g0185 a0001c0001t0028g0080 a0001c0001t0032g0047 a0001c0001t0033g0029 a0001c0001t0034g0072 a0001c0001t0035g0044 a0001c0001t0036g0091 a0001c0001t0037g0057 a0001c0001t0038g0021 a0001c0001t0040g0009 a0001c0001t0041g0005 a0001c0001t0042g0032 a0001c0001t0044g0026 a0001c0001t0045g0010 a0001c0001t0046g0055 a0001c0001t0049g0096 a0001c0001t0050g0095 a0001c0001t0052g0099 a0001c0001t0056g0107 a0001c0001t0057g0108 a0001c0001t0058g0109 a0001c0001t0059g0112 a0001c0001t0060g0113 a0001c0001t0062g0116 a0001c0001t0063g0128 a0001c0001t0065g0133 a0001c0001t0066g0125 a0001c0001t0069g0139 a0001c0001t0070g0137 a0001c0001t0072g0148 a0001c0001t0073g0165 a0001c0001t0074g0144 a0001c0001t0075g0169 a0001c0001t0076g0141 a0001c0001t0077g0152 a0001c0001t0079g0147 a0001c0001t0080g0162 a0001c0001t0082g0180 a0001c0001t0084g0179 a0001c0001t0085g0182 a0001c0001t0086g0186 a0001c0001t0088g0198 a0001c0001t0089g0189 a0001c0001t0091g0194 a0001c0001t0092g0197 a0001c0001t0093g0191 a0001c0001t0094g0193 a0001c0001t0095g0199 a0001c0001t0096g0196 a0001c0001t0098g0188 a0001c0001t0099g0201 a0001c0001t0102g0204 a0001c0001t0104g0207 a0001c0001t0105g0206 a0001c0001t0106g0208 a0001c0001t0109g0210 a0001c0001t0110g0212 a0001c0001t0111g0213	138	155	0.8903	-18	c.211 others(37): Show c.211+56812_211+56829delTTTTTTTTTTTTTTTTTT		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3						chr22	TogoVar
CACNG3_chr16_24251335_24367412	24257368	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG00733.hp2 others(11): Show HG00408.hp2 HG00673.hp2 HG00733.hp2 HG02040.hp2 HG02129.hp2 HG03927.hp1 NA18977.hp2 NA18983.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 others(11): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0002g0086	14	113	0.1239	-18	c.211 others(33): Show c.211+446_211+463delGAGAGAGAGAGAGAGAGA		CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24305320	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01109.hp1 others(12): Show HG00140.hp1 HG00741.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01993.hp2 HG02818.hp2 HG03098.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0159 a0001c0001t0001g0188 others(12): Show a0001c0001t0001g0008 a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0111 a0001c0001t0002g0345	15	53	0.2830	-18	c.212 others(37): Show c.212-41384_212-41367delGTGTGTGTGTGTGTGTGT		CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24327441	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	364	0.0027	-18	c.212 others(37): Show c.212-19291_212-19274delTATATATATATATACACA		CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG4_chr17_66959707_67038398	66965194	ACGCGCGC others(11): Show ACGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	336	0.0030	-18	c.220 others(31): Show c.220+65_220+82delGCGCGCGCGCGCGCGCGC		CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG6_chr19_53986637_54017666	53992916	GCGGCGGG others(11): Show GCGGCGGGGGGCCGCGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0322 a0005c0007t0001g0322	1	428	0.0023	-18	c.46_ others(23): Show c.46_63delGGGGCCGCGGGCCGGCGG	p.Gly others(11): Show p.Gly16_Arg21del	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	1/4	1287/2501	46/783	16/260		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	53993508	TCTGTGCC others(11): Show TCTGTGCCCCCAGGCCATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG00735.hp1 others(25): Show HG00323.hp1 HG00673.hp2 HG00735.hp1 HG01081.hp1 HG01255.hp2 HG01433.hp1 HG01496.hp2 HG01981.hp2 HG02040.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18951.hp2 NA19058.hp2 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0039	a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 others(21): Show a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0045 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0004g0041 a0001c0001t0005g0039 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0007g0085 a0001c0001t0010g0089 a0001c0001t0013g0014 a0001c0001t0013g0090 a0001c0001t0013g0091 a0001c0001t0039g0035	28	428	0.0654	-18	c.331 others(33): Show c.331+305_331+322delGCCCCCAGGCCATCCTGT		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54004335	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0185 a0001c0001t0025g0185	1	97	0.0103	-18	c.544 others(35): Show c.544+4604_544+4621delGTGTGTGTGTGTGTGTGT		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962801	TTATTTTT others(11): Show TTATTTTTGAGAAAGAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	392	0.0026	-18	c.-34 others(27): Show c.-341_-324delTATTTTTGAGAAAGAGAA		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding					135		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53993508	TCTGTGCC others(11): Show TCTGTGCCCCCAGGCCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01081.hp1 others(23): Show HG00323.hp2 HG00673.hp1 HG01081.hp1 HG01255.hp2 HG01496.hp2 HG02040.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18951.hp2 NA19066.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0016 a0001c0001t0026 others(11): Show a0001c0001t0013 a0001c0001t0016 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0090 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0104 a0001c0001t0106 a0001c0001t0134	a0001c0001t0013g0025 a0001c0001t0013g0165 a0001c0001t0013g0166 others(20): Show a0001c0001t0013g0025 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0013g0167 a0001c0001t0016g0007 a0001c0001t0016g0026 a0001c0001t0016g0063 a0001c0001t0016g0075 a0001c0001t0026g0044 a0001c0001t0026g0260 a0001c0001t0033g0007 a0001c0001t0034g0026 a0001c0001t0034g0077 a0001c0001t0035g0028 a0001c0001t0036g0082 a0001c0001t0036g0083 a0001c0001t0090g0081 a0001c0001t0095g0045 a0001c0001t0096g0045 a0001c0001t0098g0259 a0001c0001t0104g0092 a0001c0001t0106g0169 a0001c0001t0134g0079	26	392	0.0663	-18	c.10 others(31): Show c.10660_*10677delCTGTGCCCCCAGGCCATC		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding					3294		chr19	TogoVar
CADM1_chr11_115164236_115509415	115284104	CTCTCTCT others(11): Show CTCTCTCTCTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG02895.hp1 others(2): Show HG00735.hp1 HG01099.hp2 HG02895.hp1 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0025 a0001c0001t0026	a0001c0001t0003g0085 a0001c0001t0008g0065 a0001c0001t0013g0049 others(2): Show a0001c0001t0003g0085 a0001c0001t0008g0065 a0001c0001t0013g0049 a0001c0001t0025g0018 a0001c0001t0026g0002	5	164	0.0305	-18	c.125 others(37): Show c.125-43702_125-43685delCACACACAGAGAGAGAGA		CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11						chr11	TogoVar

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