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
CACNA1I_chr22_39565753_39694735	39601979	C C	CCCTCTCT others(25): Show CCCTCTCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20129.hp2 NA18906.hp1 NA20129.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0005 a0003c0017t0005	a0003c0017t0005g0088 a0003c0017t0005g0089 a0003c0017t0005g0088 a0003c0017t0005g0089	2	115	0.0174	32	c.482 others(49): Show c.482+1329_482+1330insCTCTCCCTCCCTCCCTTCCTTCCTTCCT TCCT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686623	T T	TGCATATA others(25): Show TGCATATATATATATATATATATATATATATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0168 a0001c0001t0047g0168	1	208	0.0048	32	c.21 others(41): Show c.218_*219insGCATATATATATATATATATATATATATATGC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37	219		chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03579.hp1 HG06807.hp1 HG01069.hp2 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001	a0001c0001t0005g0106 a0001c0001t0007g0015 a0001c0002t0001g0041 a0001c0001t0005g0106 a0001c0001t0007g0015 a0001c0002t0001g0041	3	42	0.0714	32	c.355 others(49): Show c.355-1032_355-1031insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82185498	G G	GGGAGGAG others(25): Show GGGAGGAGGAGGGGGAGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG02922.hp1 others(2): Show HG01243.hp1 HG01433.hp1 HG02922.hp1 HG03041.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0021	a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0009g0080 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0009g0080 a0001c0001t0016g0019 a0001c0001t0021g0114	5	142	0.0352	32	c.295 others(51): Show c.295-14890_295-14889insTCCCCCTCCCCCTCCCCTCCCCCTCC TCCTCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217390	C C	CACATACA others(25): Show CACATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0091 a0001c0001t0017g0091	1	133	0.0075	32	c.295 others(51): Show c.295-46782_295-46781insATATATATATATATATATATATATAT GTATGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	82	0.0122	32	c.204 others(51): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGCGCGCGCGCG CGCGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54252100	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	33	0.0303	32	c.205 others(51): Show c.205-68328_205-68327insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54265577	T T	TGTGTGTA others(25): Show TGTGTGTATATATATATAGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp1 others(11): Show HG00280.hp1 HG00423.hp1 HG00438.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG02080.hp2 HG02300.hp2 HG03239.hp1 HG04204.hp1 NA18951.hp2 NA18979.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0001c0015 a0001c0019 a0001c0033 a0001c0042	a0001c0001t0001 a0001c0002t0004 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0009t0008 a0001c0011t0001 a0001c0011t0006 a0001c0015t0001 a0001c0019t0001 a0001c0033t0001 a0001c0042t0001	a0001c0001t0001g0097 a0001c0002t0004g0001 a0001c0003t0001g0054 others(11): Show a0001c0001t0001g0097 a0001c0002t0004g0001 a0001c0003t0001g0054 a0001c0004t0001g0031 a0001c0004t0002g0008 a0001c0006t0001g0009 a0001c0009t0008g0077 a0001c0011t0001g0109 a0001c0011t0006g0056 a0001c0015t0001g0072 a0001c0015t0001g0108 a0001c0019t0001g0075 a0001c0033t0001g0114 a0001c0042t0001g0078	14	116	0.1207	32	c.205 others(51): Show c.205-54817_205-54786dupTAGTGTGTATATATATAGTGTGTATA TATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54338467	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	23	0.0435	32	c.321 others(51): Show c.321+17923_321+17954dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763747	G G	GCATATAT others(25): Show GCATATATATACACATATATACGTATATATGTA	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	91	0.0330	32	c.124 others(49): Show c.1247-451_1247-450insCGTATATATGTACATATATATACACATA TATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763812	C C	CGTATATA others(25): Show CGTATATATACGTATATATACGTACATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02615.hp1 HG00639.hp2 HG02615.hp1	a0001 a0001	a0001c0018 a0001c0034 a0001c0018 a0001c0034	a0001c0018t0001 a0001c0034t0001 a0001c0018t0001 a0001c0034t0001	a0001c0018t0001g0076 a0001c0034t0001g0086 a0001c0018t0001g0076 a0001c0034t0001g0086	2	44	0.0455	32	c.124 others(49): Show c.1247-406_1247-405insGTATATATACGTATATATACGTACATAT ATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883799	A A	ATCTCTCT others(25): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG00673.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0041 a0001c0001 a0001c0041	a0001c0001t0001 a0001c0041t0001 a0001c0001t0001 a0001c0041t0001	a0001c0001t0001g0010 a0001c0041t0001g0085 a0001c0001t0001g0010 a0001c0041t0001g0085	2	67	0.0299	32	c.191 others(51): Show c.1913-1458_1913-1457insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55019079	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG06807.hp2 NA20300.hp1 HG02970.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0030 a0001c0001 a0001c0009 a0001c0030	a0001c0001t0001 a0001c0009t0001 a0001c0030t0001 a0001c0001t0001 a0001c0009t0001 a0001c0030t0001	a0001c0001t0001g0068 a0001c0009t0001g0013 a0001c0030t0001g0028 a0001c0001t0001g0068 a0001c0009t0001g0013 a0001c0030t0001g0028	3	64	0.0469	32	c.298 others(49): Show c.2987+793_2987+794insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18325689	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG03492.hp2 others(1): Show HG01891.hp2 HG02622.hp2 HG03492.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0050 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0050 a0001c0002t0024	a0001c0001t0001g0032 a0001c0001t0012g0029 a0001c0001t0050g0107 others(1): Show a0001c0001t0001g0032 a0001c0001t0012g0029 a0001c0001t0050g0107 a0001c0002t0024g0015	4	158	0.0253	32	c.214 others(51): Show c.214-76232_214-76231insCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCT	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(25): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01993.hp2 HG02055.hp1 others(11): Show HG01496.hp1 HG01993.hp2 HG02055.hp1 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0008 a0001c0001t0009 a0001c0001t0034 others(8): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0034 a0001c0001t0047 a0001c0001t0052 a0001c0002t0002 a0001c0002t0042 a0001c0004t0037 a0002c0003t0018 a0002c0003t0027 a0002c0003t0051	a0001c0001t0008g0007 a0001c0001t0009g0168 a0001c0001t0009g0169 others(11): Show a0001c0001t0008g0007 a0001c0001t0009g0168 a0001c0001t0009g0169 a0001c0001t0034g0086 a0001c0001t0047g0195 a0001c0001t0052g0162 a0001c0002t0002g0091 a0001c0002t0002g0142 a0001c0002t0002g0183 a0001c0002t0042g0102 a0001c0004t0037g0139 a0002c0003t0018g0111 a0002c0003t0027g0012 a0002c0003t0051g0024	14	168	0.0833	32	c.214 others(51): Show c.214-76232_214-76231insCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0101 a0001c0001t0045g0101	1	94	0.0106	32	c.130 others(47): Show c.1302+77_1302+78insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0177 a0001c0001t0052g0177	1	140	0.0071	32	c.114 others(47): Show c.1140+77_1140+78insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151920140	A A	AAATAGAA others(25): Show AAATAGAACAATTTCTATTTCTATTGTAATAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(51): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00733.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG02027.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18964.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19067.hp2 NA19084.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0002t0003 a0001c0005t0015	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 others(51): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0165 a0001c0001t0001g0181 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0145 a0001c0001t0004g0001 a0001c0001t0004g0031 a0001c0001t0005g0004 a0001c0001t0005g0024 a0001c0001t0005g0037 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0142 a0001c0001t0005g0147 a0001c0001t0005g0229 a0001c0001t0006g0011 a0001c0001t0006g0015 a0001c0001t0006g0111 a0001c0001t0006g0197 a0001c0001t0006g0206 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0017 a0001c0001t0008g0023 a0001c0001t0008g0063 a0001c0001t0009g0062 a0001c0001t0009g0167 a0001c0001t0009g0169 a0001c0001t0009g0193 a0001c0001t0009g0195 a0001c0001t0009g0212 a0001c0001t0011g0157 a0001c0001t0012g0091 a0001c0001t0012g0148 a0001c0001t0012g0191 a0001c0001t0014g0016 a0001c0001t0014g0019 a0001c0001t0018g0097 a0001c0001t0038g0213 a0001c0001t0039g0073 a0001c0001t0040g0168 a0001c0002t0003g0170 a0001c0005t0015g0199	54	220	0.2455	32	c.148 others(51): Show c.148-36802_148-36771dupCCTATTACAATAGAAATAGAAATTGT TCTATT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36655736	C C	CTCTTCCT others(25): Show CTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0181 a0001c0001t0083g0181	1	164	0.0061	32	c.211 others(51): Show c.211+46629_211+46630insAAGGAAGAAAGGAAGAAAGGAAGAAA GGAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679189	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0096 a0001c0001t0049g0096	1	186	0.0054	32	c.211 others(51): Show c.211+23176_211+23177insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679197	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0084 a0001c0001t0051 a0001c0001t0084	a0001c0001t0051g0097 a0001c0001t0084g0179 a0001c0001t0051g0097 a0001c0001t0084g0179	2	153	0.0131	32	c.211 others(51): Show c.211+23168_211+23169insAAAGAAAGAAAGAAAGAAAGAAAGGA AGGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679197	C C	CCTTCCTT others(25): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0099 a0001c0001t0052g0099	1	152	0.0066	32	c.211 others(51): Show c.211+23168_211+23169insAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679197	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	152	0.0066	32	c.211 others(51): Show c.211+23137_211+23168dupAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(25): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	139	0.0072	32	c.-11 others(43): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGAGAGAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703779	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0181 a0001c0001t0083g0181	1	201	0.0050	32	c.-12 others(43): Show c.-1204_-1203insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		28		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703801	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02602.hp2 HG01069.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0106 a0001c0001t0008 a0001c0001t0106	a0001c0001t0008g0174 a0001c0001t0106g0208 a0001c0001t0008g0174 a0001c0001t0106g0208	2	100	0.0200	32	c.-12 others(43): Show c.-1226_-1225insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		50		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24265278	G G	GGAAGGAA others(25): Show GGAAGGAAGGGAGGAAGGAAGGAAGGAAAAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02630.hp1 others(7): Show HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(7): Show a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0003g0208	10	364	0.0275	32	c.211 others(49): Show c.211+8323_211+8354dupGAGGAAGGAAGGAAGGAAAAAGAGAAGG AAGG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	53999916	G G	GTCTCCAC others(25): Show GTCTCCACACACTGTTGCATGCTGGGAGTAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	428	0.0023	32	c.544 others(47): Show c.544+164_544+195dupTGCTGGGAGTAGGATCTCCACACACTGTTG CA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0176 a0003c0005t0004g0176	1	173	0.0058	32	c.545 others(47): Show c.545-745_545-744insAAAAAAAAAAAAAATATATATATATATATA TA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	173	0.0058	32	c.545 others(47): Show c.545-745_545-744insAAAAAATATATATATATATATATATATATA TA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011227	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0366 a0001c0001t0007g0366	1	105	0.0095	32	c.545 others(47): Show c.545-723_545-722insTATATATATATATATATATATATATATACA CA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53946574	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	342	0.0029	32	c.42 others(43): Show c.4281_*4282insTCTCTCTCTCTCTCTCTCTCTATATATATATA	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		2625		chr19	TogoVar
CADM1_chr11_115164236_115509415	115308211	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0023 a0001c0001t0036g0023	1	68	0.0147	32	c.125 others(51): Show c.125-67792_125-67791insGTGTATATATATATATATATATATAT ATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328705	T T	TATACATA others(25): Show TATACATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03098.hp2 HG01952.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0036 a0001c0001t0016 a0001c0001t0036	a0001c0001t0016g0121 a0001c0001t0036g0023 a0001c0001t0016g0121 a0001c0001t0036g0023	2	153	0.0131	32	c.125 others(51): Show c.125-88286_125-88285insGTATATACATATATATACGCGTATAT ATGTAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85354618	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02818.hp2 HG02293.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0071 a0001c0001t0015g0133 a0001c0001t0005g0071 a0001c0001t0015g0133	2	27	0.0741	32	c.62- others(51): Show c.62-371879_62-371878insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359637	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0066 a0001c0001t0009g0066	1	112	0.0089	32	c.62- others(51): Show c.62-366855_62-366854insATATATATATATATATATATATATAT ATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0118 a0001c0001t0014g0118	1	37	0.0270	32	c.62- others(51): Show c.62-366855_62-366854insATATATATATATATATATATATATAT TTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19003.hp2 HG00738.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0080 a0001c0001t0005g0061 a0001c0001t0001g0080 a0001c0001t0005g0061	2	38	0.0526	32	c.62- others(51): Show c.62-366855_62-366854insATATATATATATATATATATATTTTT TTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	36	0.0278	32	c.62- others(51): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATGTA others(25): Show CATATGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01981.hp2 HG02293.hp2 others(1): Show HG01069.hp1 HG01981.hp2 HG02293.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0041 a0001c0001t0003 a0001c0001t0032 a0001c0001t0041	a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0032g0112 others(1): Show a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0032g0112 a0001c0001t0041g0056	4	39	0.1026	32	c.62- others(51): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541773	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03492.hp2 HG03927.hp1 others(3): Show HG02895.hp1 HG03492.hp2 HG03927.hp1 HG04228.hp2 NA18952.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0047	a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0004g0064 others(3): Show a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0004g0064 a0001c0001t0007g0059 a0001c0001t0009g0008 a0001c0001t0047g0038	6	117	0.0513	32	c.62- others(51): Show c.62-184748_62-184747insATATATATATATATATATATATATAT ATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568469	C C	CTTTCTTT others(25): Show CTTTCTTTCTCTTTCTCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0022 a0001c0001t0027g0022	1	125	0.0080	32	c.62- others(51): Show c.62-158052_62-158051insTTCTTTCTCTTTCTCTCTCTCTTTCT TTCTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568514	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0024 a0001c0001t0040g0024	1	139	0.0072	32	c.62- others(51): Show c.62-158007_62-158006insTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTCC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85577984	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03492.hp2 HG03927.hp2 others(2): Show HG02015.hp1 HG03492.hp2 HG03927.hp2 NA18977.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0002c0005t0004	a0001c0001t0004g0064 a0001c0001t0009g0066 a0001c0001t0010g0146 others(2): Show a0001c0001t0004g0064 a0001c0001t0009g0066 a0001c0001t0010g0146 a0001c0001t0018g0039 a0002c0005t0004g0058	5	6	0.8333	32	c.62- others(51): Show c.62-148523_62-148492dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85657777	C C	CAGATATA others(25): Show CAGATATATATATATACACAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02970.hp2 HG02280.hp2 HG02886.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0020 a0001c0002t0048 a0001c0001t0002 a0001c0001t0020 a0001c0002t0048	a0001c0001t0002g0144 a0001c0001t0020g0097 a0001c0002t0048g0096 a0001c0001t0002g0144 a0001c0001t0020g0097 a0001c0002t0048g0096	3	57	0.0526	32	c.62- others(49): Show c.62-68744_62-68743insGATATATATATATACACAGATATATATA TATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122527617	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	78	0.0128	32	c.147 others(53): Show c.1476-14303_1476-14302insACACACACACACACACTCTCTCTC TCTCTCTC	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	8/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122579450	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0116 a0001c0002t0003g0116	1	36	0.0278	32	c.133 others(51): Show c.1335+1728_1335+1729insATATATATATATATATATATATATAT ATATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	7/29			chr7	TogoVar
CALB1_chr8_90053608_90087879	90079539	T T	TATTACAA others(25): Show TATTACAAAAATACAATATAAACGTAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	382	0.0026	32	c.157 others(49): Show c.157-1093_157-1092insTTTTTTTTACGTTTATATTGTATTTTTG TAAT	CALB1	ENSG00000104327.7	transcript	ENST00000265431.7	protein_coding	2/10			chr8	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0067 a0003c0002t0001g0067	1	33	0.0303	32	c.912 others(49): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT TTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48857497	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0210 a0003c0002t0001g0210	1	17	0.0588	32	c.100 others(51): Show c.1008+1333_1008+1334insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar

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