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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03710.hp1 HG06807.hp1 HG03130.hp1 HG03710.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0131 a0001c0001t0002g0031 a0001c0002t0003g0288 a0001c0001t0001g0131 a0001c0001t0002g0031 a0001c0002t0003g0288	3	83	0.0361	23	c.161 others(40): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7398423	T T	TTGCATGG others(16): Show TTGCATGGAATATCATTTTCCATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0055 a0001c0006t0001g0055	1	58	0.0172	23	c.439 others(42): Show c.439-69383_439-69361dupTGCATGGAATATCATTTTCCATC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7579552	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0051 a0001c0001t0012g0051	1	31	0.0323	23	c.511 others(42): Show c.511-60845_511-60823dupTTTTTTTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79005143	G G	GGGGAGTG others(16): Show GGGGAGTGGTGAGGGGAGTTAGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	392	0.0026	23	c.-14 others(42): Show c.-147+4520_-147+4521insTCCTAACTCCCCTCACCACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAP2_chr6_17388595_17562780	17406398	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp2 HG01884.hp2 others(2): Show HG00438.hp2 HG01361.hp2 HG01884.hp2 HG02055.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0001c0009 others(2): Show a0001c0006 a0001c0008 a0001c0009 a0001c0014 a0002c0012	a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 others(2): Show a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0014t0008 a0002c0012t0001	a0001c0006t0001g0149 a0001c0008t0001g0204 a0001c0009t0001g0013 others(2): Show a0001c0006t0001g0149 a0001c0008t0001g0204 a0001c0009t0001g0013 a0001c0014t0008g0016 a0002c0012t0001g0014	5	152	0.0329	23	c.-2+ others(40): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17406412	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG02886.hp2 others(7): Show HG00735.hp2 HG01496.hp2 HG02886.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0008 others(3): Show a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0002c0004 a0003c0007	a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 others(5): Show a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0001c0011t0002 a0002c0004t0001 a0003c0007t0001	a0001c0002t0001g0197 a0001c0002t0006g0133 a0001c0003t0001g0065 others(7): Show a0001c0002t0001g0197 a0001c0002t0006g0133 a0001c0003t0001g0065 a0001c0003t0001g0072 a0001c0003t0001g0088 a0001c0003t0002g0086 a0001c0008t0001g0057 a0001c0011t0002g0087 a0002c0004t0001g0073 a0003c0007t0001g0066	10	184	0.0543	23	c.-2+ others(40): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTTTTTCT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	41	0.0244	23	c.223 others(38): Show c.223-995_223-973dupAAAAAAAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735614	C C	CAGGTGAG others(16): Show CAGGTGAGGAATCGCGTGGGGTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0079 a0001c0023t0001g0079	1	340	0.0029	23	c.158 others(38): Show c.1584-93_1584-71dupAGACCCCACGCGATTCCTCACCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38749045	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG03710.hp2 HG02735.hp2 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0008 a0004c0008t0008 a0001c0001t0008 a0004c0008t0008	a0001c0001t0008g0247 a0004c0008t0008g0246 a0001c0001t0008g0247 a0004c0008t0008g0246	2	209	0.0096	23	c.-48 others(34): Show c.-4881_-4880insTTTTTTTTTTTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		4572		chr19	TogoVar
CAPS2_chr12_75270979_75335324	75291509	A A	ATATATAT others(16): Show ATATATATAGCTTATTTTAAAAAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	368	0.0027	23	c.112 others(40): Show c.1126+234_1126+235insCTTTTTAAAATAAGCTATATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPS2_chr12_75270979_75335324	75291579	A A	ATATATAT others(16): Show ATATATATAGCTTATTTTTAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	368	0.0027	23	c.112 others(40): Show c.1126+164_1126+165insCTTTTAAAAATAAGCTATATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0355 a0001c0001t0002g0355	1	30	0.0333	23	c.93+ others(38): Show c.93+2778_93+2800dupTTTTTTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0315 a0004c0019t0001g0315	1	130	0.0077	23	c.685 others(40): Show c.685-1634_685-1612dupTTTTTTTTTTTTTTTTTTTTTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0025 a0025	a0025c0065 a0025c0065	a0025c0065t0021 a0025c0065t0021	a0025c0065t0021g0275 a0025c0065t0021g0275	1	135	0.0074	23	c.-68 others(37): Show c.-689-30_-689-8dupTTTTTTTTTTTTTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD19_chr9_93091217_93118283	93115680	T T	TGATGAGG others(16): Show TGATGAGGGAGGAGTGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01256.hp1 others(4): Show HG00140.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0052 a0001c0001t0002g0055 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0093	7	356	0.0197	23	c.25 others(34): Show c.2573_*2574insGATGAGGGAGGAGTGAGGGAGGG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2398		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115761	A A	AGTGAGGG others(16): Show AGTGAGGGAGGGGTGAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG01884.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	354	0.0056	23	c.26 others(34): Show c.2654_*2655insGTGAGGGAGGGGTGAGGGAGGGG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2479		chr9	TogoVar
CARD8_chr19_48203086_48260912	48220952	G G	GAAAGGAA others(16): Show GAAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02922.hp2 NA18747.hp2 others(4): Show HG02148.hp1 HG02922.hp2 NA18747.hp2 NA18945.hp1 NA18960.hp1 NA18972.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0001 a0001c0002 a0001c0005 a0002c0001	a0001c0002t0001 a0001c0005t0034 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0005t0034 a0002c0001t0001 a0002c0001t0004	a0001c0002t0001g0228 a0001c0005t0034g0134 a0002c0001t0001g0002 others(1): Show a0001c0002t0001g0228 a0001c0005t0034g0134 a0002c0001t0001g0002 a0002c0001t0004g0001	7	238	0.0294	23	c.116 others(40): Show c.1161+777_1161+778insTTCCTTCCTTCCTTCCTTCCTTT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48220954	A A	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19060.hp1 NA18963.hp2 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0015 a0001c0004t0003g0230 a0001c0004t0003g0015 a0001c0004t0003g0230	2	104	0.0192	23	c.116 others(40): Show c.1161+775_1161+776insCCTTCCTTCCTTCCTTCCTTCCT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG02735.hp2 others(3): Show HG00423.hp2 HG00621.hp2 HG02735.hp2 NA18964.hp1 NA19057.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0029 a0001c0002t0002 a0001c0002t0029	a0001c0002t0002g0039 a0001c0002t0002g0144 a0001c0002t0002g0157 others(3): Show a0001c0002t0002g0039 a0001c0002t0002g0144 a0001c0002t0002g0157 a0001c0002t0002g0163 a0001c0002t0002g0395 a0001c0002t0029g0235	6	81	0.0741	23	c.31 others(34): Show c.3164_*3186dupAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(16): Show GTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0226 a0001c0001t0043g0226	1	112	0.0089	23	c.281 others(40): Show c.281+1086_281+1087insAAAAAAAAAAAAAAAACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	112	0.0089	23	c.281 others(40): Show c.281+1064_281+1086dupAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25459267	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01884.hp1 HG02148.hp1 others(6): Show HG00438.hp1 HG01884.hp1 HG02148.hp1 HG02486.hp2 HG02896.hp2 HG03486.hp1 HG03491.hp1 NA19011.hp2 NA19043.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0022 a0001c0033 a0006c0016 a0007c0026	a0001c0002t0008 a0001c0002t0010 a0001c0003t0009 others(5): Show a0001c0002t0008 a0001c0002t0010 a0001c0003t0009 a0001c0004t0002 a0001c0022t0002 a0001c0033t0001 a0006c0016t0005 a0007c0026t0002	a0001c0002t0008g0059 a0001c0002t0008g0107 a0001c0002t0010g0171 others(6): Show a0001c0002t0008g0059 a0001c0002t0008g0107 a0001c0002t0010g0171 a0001c0003t0009g0150 a0001c0004t0002g0069 a0001c0022t0002g0015 a0001c0033t0001g0120 a0006c0016t0005g0168 a0007c0026t0002g0075	9	164	0.0549	23	c.615 others(40): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(16): Show CTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01928.hp2 HG02148.hp2 HG01358.hp2 HG01928.hp2 HG02148.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0049	3	19	0.1579	23	c.105 others(42): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140349	C C	CACACACA others(16): Show CACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	233	0.0043	23	c.-20 others(32): Show c.-200_-199insACACACACACACACACACACACA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		187		chr17	TogoVar
CASP3_chr4_184622696_184654447	184651290	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03130.hp1 NA18906.hp2 HG02970.hp1 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0083 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0001g0083 a0001c0001t0004g0084 a0001c0001t0004g0086	3	357	0.0084	23	c.-20 others(34): Show c.-2079_-2078insTTTTTTTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		1844		chr4	TogoVar
CASR_chr3_122178668_122296629	122252399	G G	GAAAAAGA others(16): Show GAAAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0154 a0004c0003t0004g0154	1	291	0.0034	23	c.-24 others(42): Show c.-242-1547_-242-1546insAAAGAAAGAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01433.hp1 HG01515.hp2 others(4): Show HG01257.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02165.hp1 NA19011.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0055 a0001c0001t0062	a0001c0001t0001g0104 a0001c0001t0005g0131 a0001c0001t0011g0118 others(4): Show a0001c0001t0001g0104 a0001c0001t0005g0131 a0001c0001t0011g0118 a0001c0001t0012g0095 a0001c0001t0018g0108 a0001c0001t0055g0101 a0001c0001t0062g0141	7	33	0.2121	23	c.-19 others(34): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026188	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18906.hp2 HG01168.hp2 HG01169.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0040 a0001c0001t0089 a0001c0001t0039 a0001c0001t0040 a0001c0001t0089	a0001c0001t0039g0214 a0001c0001t0040g0213 a0001c0001t0089g0010 a0001c0001t0039g0214 a0001c0001t0040g0213 a0001c0001t0089g0010	3	211	0.0142	23	c.14 others(34): Show c.1489_*1490insTTTTTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1490		chr7	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0010 a0001c0018t0010	a0001c0018t0010g0031 a0001c0018t0010g0031	1	236	0.0042	23	c.138 others(40): Show c.138+4756_138+4778dupAAAAAAAAAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATIP_chr2_218351857_218373094	218357290	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	360	0.0028	23	c.118 others(38): Show c.118+103_118+104insCTCTCTCTCTCTCTCTCTCTCTC	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9			chr2	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18965.hp1 NA19089.hp1 NA18951.hp1 NA18965.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0170 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0170	3	208	0.0144	23	c.842 others(38): Show c.842+617_842+618insAAAAAAAAAAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0018 a0001c0003t0002g0018	1	171	0.0058	23	c.52 others(34): Show c.5235_*5236insAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91579127	G G	GACGAACA others(16): Show GACGAACAACTCCAGATAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG00741.hp2 others(12): Show HG00140.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01192.hp2 HG01515.hp2 HG02056.hp1 HG02523.hp1 HG02572.hp2 HG02738.hp1 HG03654.hp1 HG03654.hp2 NA18942.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0041 others(12): Show a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0207 a0001c0001t0002g0232 a0001c0001t0002g0246	15	270	0.0556	23	c.17 others(34): Show c.1761_*1762insTTCTTCTATCTGGAGTTGTTCGT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		1570		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586563	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	123	0.0081	23	c.313 others(40): Show c.3132+638_3132+639insTCTCTCTCTCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	46	0.0217	23	c.142 others(42): Show c.1428-1156_1428-1155insATATATATATATATATATTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02683.hp2 HG01106.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0132 a0002c0002t0001g0178 a0001c0001t0001g0132 a0002c0002t0001g0178	2	47	0.0426	23	c.142 others(42): Show c.1428-1156_1428-1155insATATATATATATATATTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp2 HG01884.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0311 a0001c0001t0002g0101 a0001c0001t0002g0311	2	47	0.0426	23	c.142 others(42): Show c.1428-1156_1428-1155insATATATATATATATTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp2 HG04199.hp1 HG01081.hp2 HG01496.hp2 HG04199.hp1	a0003 a0011 a0003 a0011	a0003c0004 a0011c0011 a0003c0004 a0011c0011	a0003c0004t0001 a0003c0004t0003 a0011c0011t0001 a0003c0004t0001 a0003c0004t0003 a0011c0011t0001	a0003c0004t0001g0262 a0003c0004t0003g0125 a0011c0011t0001g0315 a0003c0004t0001g0262 a0003c0004t0003g0125 a0011c0011t0001g0315	3	48	0.0625	23	c.142 others(42): Show c.1428-1156_1428-1155insATATATATATATTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18995.hp2 HG03486.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0123 a0002c0002t0001g0271 a0001c0001t0001g0123 a0002c0002t0001g0271	2	47	0.0426	23	c.142 others(42): Show c.1428-1156_1428-1155insATATATATATTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0233	1	84	0.0119	23	c.150 others(40): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244584540	A A	ATATTATA others(16): Show ATATTATATTATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp2 HG03195.hp2 others(2): Show HG02572.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0023 a0001c0003 a0004c0023	a0001c0003t0001 a0001c0003t0002 a0004c0023t0001 a0001c0003t0001 a0001c0003t0002 a0004c0023t0001	a0001c0003t0001g0044 a0001c0003t0001g0199 a0001c0003t0001g0200 others(2): Show a0001c0003t0001g0044 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0002g0083 a0004c0023t0001g0077	5	190	0.0263	23	c.208 others(40): Show c.2085+604_2085+605insTATATTATATTATATTATATTAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	6	0.1667	23	c.264 others(42): Show c.2648+7747_2648+7748insATATATATTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERZ_chr11_64295358_64309770	64304830	C C	CGTGACCT others(16): Show CGTGACCTTCATTCGGTCACCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00621.hp1 others(21): Show HG00438.hp2 HG00544.hp1 HG00621.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG03017.hp1 HG04204.hp1 NA18612.hp2 NA18945.hp1 NA18967.hp2 NA18970.hp1 NA18977.hp1 NA18992.hp1 NA18997.hp1 NA19000.hp1 NA19056.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0021 a0002c0002t0001g0019 a0003c0003t0001g0017 a0003c0003t0001g0031 a0004c0004t0001g0002 a0004c0004t0001g0010	24	388	0.0619	23	c.18 others(32): Show c.184_*185insGTGACCTTCATTCGGTCACCGCA	CATSPERZ	ENSG00000219435.6	transcript	ENST00000328404.8	protein_coding		61		chr11	TogoVar
CAV1_chr7_116520036_116566179	116523198	A A	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	1	290	0.0034	23	c.-18 others(34): Show c.-1865_-1864insAGGAAGGAAGGAAGGAAGGAAGG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1837		chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	119	0.0084	23	c.195 others(40): Show c.195+7707_195+7708insATATATATATATATATTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03041.hp1 HG00673.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0012 a0001c0001t0001g0025	2	120	0.0167	23	c.195 others(40): Show c.195+7707_195+7708insATATATATATATATTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	119	0.0084	23	c.195 others(40): Show c.195+7707_195+7708insATATATATATATTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 NA18942.hp2 HG01243.hp1 HG01243.hp2 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0001 a0002c0002t0004g0004 a0001c0001t0001g0001 a0002c0002t0004g0004	3	70	0.0429	23	c.-85 others(32): Show c.-859_-858insCACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02486.hp2 HG02735.hp2 others(3): Show HG01361.hp2 HG02486.hp2 HG02735.hp2 HG03927.hp2 NA18906.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0027 a0001c0003t0006 a0001c0001t0006 a0001c0001t0027 a0001c0003t0006	a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0106 others(3): Show a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0106 a0001c0001t0027g0089 a0001c0003t0006g0104 a0001c0003t0006g0105	6	134	0.0448	23	c.472 others(40): Show c.472-5805_472-5804insTTTTTTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33592382	A A	ATATATAT others(16): Show ATATATATATAATTATGTAAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01109.hp1 others(20): Show HG00099.hp1 HG01074.hp1 HG01109.hp1 HG01884.hp1 HG01952.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0002t0002 a0001c0002t0009	a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 others(20): Show a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0001t0008g0006 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0011g0064 a0001c0001t0011g0065 a0001c0001t0015g0015 a0001c0001t0025g0011 a0001c0002t0002g0166 a0001c0002t0002g0176 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0214 a0001c0002t0009g0182 a0001c0002t0009g0187	23	290	0.0793	23	c.35- others(40): Show c.35-14542_35-14520dupTAATTATGTAAAAATTATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar

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