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
CLMP_chr11_123064872_123200248	123107534	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02145.hp1 HG01346.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0012 a0001c0001t0016	a0001c0001t0012g0186 a0001c0001t0016g0052 a0001c0001t0012g0186 a0001c0001t0016g0052	2	141	0.0142	17	c.29- others(32): Show c.29-9599_29-9583dupAAAAAAAAAAAAAAAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150532	G G	GAAGGCAG others(10): Show GAAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	216	0.0046	17	c.28+ others(34): Show c.28+44380_28+44381insGCCTGCCTGCCTGCCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150542	A A	AGGGAGGG others(10): Show AGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	251	0.0040	17	c.28+ others(34): Show c.28+44370_28+44371insCTCCCTCCCTCCCTCCC	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN6_chr15_68201992_68234728	68234678	C C	CTTTTCCT others(10): Show CTTTTCCTTATCATTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	322	0.0031	17	c.-51 others(28): Show c.-5111_-5095dupAGAAATGATAAGGAAAA	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		4951		chr15	TogoVar
CLN8_chr8_1758789_1791570	1761611	C C	CACCGTGC others(10): Show CACCGTGCCCAGCCCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	412	0.0024	17	c.-23 others(28): Show c.-2398_-2397insACCGTGCCCAGCCCTGG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		2177		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763392	G G	GCGCCGCG others(10): Show GCGCCGCGCCCCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	374	0.0027	17	c.-61 others(26): Show c.-617_-616insCGCCGCGCCCCGCCCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		396		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763392	G G	GCGCTGCG others(10): Show GCGCTGCGCCCCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0001 a0001c0001t0033g0001	1	374	0.0027	17	c.-61 others(26): Show c.-617_-616insCGCTGCGCCCCGCCCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		396		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763399	G G	GCCCCGCC others(10): Show GCCCCGCCCCCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0139 a0001c0001t0029g0139	1	410	0.0024	17	c.-61 others(26): Show c.-610_-609insCCCCGCCCCCCGCCGCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		389		chr8	TogoVar
CLNK_chr4_10481395_10689768	10535266	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0285 a0001c0001t0011g0285	1	316	0.0032	17	c.603 others(34): Show c.603-2984_603-2983insCTTTCTTTCTTTCTTTC	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10578579	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02258.hp1 others(3): Show HG01167.hp2 HG01169.hp1 HG02258.hp1 HG02572.hp1 HG02572.hp2 NA18522.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0002 a0001c0001t0014 a0001c0001t0033 others(2): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0033 a0001c0001t0044 a0006c0013t0001	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0014g0180 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0014g0180 a0001c0001t0033g0001 a0001c0001t0044g0197 a0006c0013t0001g0280	6	32	0.1875	17	c.112 others(34): Show c.112+6331_112+6347dupAAAAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	4/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10610033	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	15	0.0667	17	c.12- others(34): Show c.12-12001_12-11985dupAAAAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10655375	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18994.hp1 HG01433.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0038 a0001c0001t0006 a0001c0001t0038	a0001c0001t0006g0086 a0001c0001t0038g0262 a0001c0001t0006g0086 a0001c0001t0038g0262	2	307	0.0065	17	c.11+ others(34): Show c.11+12483_11+12484insCTCTCTCTCTCTCTCTC	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10689745	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01517.hp2 others(22): Show HG00140.hp2 HG00738.hp1 HG01517.hp2 HG01884.hp2 HG02027.hp1 HG02074.hp1 HG02109.hp1 HG02258.hp1 HG02602.hp2 HG02615.hp1 HG02818.hp1 HG03195.hp1 HG03540.hp1 HG03942.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18994.hp1 NA18999.hp1 NA19007.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0007c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0025 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044 a0001c0001t0052 a0001c0004t0053 a0002c0002t0005 a0003c0003t0003 a0007c0011t0030	a0001c0001t0003g0191 a0001c0001t0003g0212 a0001c0001t0003g0237 others(22): Show a0001c0001t0003g0191 a0001c0001t0003g0212 a0001c0001t0003g0237 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0267 a0001c0001t0005g0270 a0001c0001t0006g0109 a0001c0001t0007g0243 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0271 a0001c0001t0010g0269 a0001c0001t0013g0255 a0001c0001t0019g0014 a0001c0001t0025g0192 a0001c0001t0032g0198 a0001c0001t0037g0214 a0001c0001t0038g0262 a0001c0001t0044g0197 a0001c0001t0052g0273 a0001c0004t0053g0268 a0002c0002t0005g0252 a0003c0003t0003g0297 a0007c0011t0030g0199	25	103	0.2427	17	c.-51 others(28): Show c.-5121_-5120insAAAAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding		4978		chr4	TogoVar
CLOCK_chr4_55422903_55551909	55445582	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18955.hp1 NA18970.hp1 others(3): Show NA18947.hp2 NA18955.hp1 NA18970.hp1 NA18984.hp2 NA18990.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0075 a0001c0001t0001 a0001c0001t0075	a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0001g0088 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0146 a0001c0001t0075g0164	6	101	0.0594	17	c.154 others(34): Show c.1540-814_1540-798dupAAAAAAAAAAAAAAAAA	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55503978	T T	TAAAAGAA others(10): Show TAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0110 a0001c0001t0021g0110	1	96	0.0104	17	c.-13 others(36): Show c.-136+5933_-136+5934insTTTTTTTTTTTTCTTTT	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	2/22			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55530774	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19240.hp1 HG02280.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0048 a0001c0001t0041 a0001c0001t0048	a0001c0001t0041g0071 a0001c0001t0048g0072 a0001c0001t0041g0071 a0001c0001t0048g0072	2	9	0.2222	17	c.-29 others(38): Show c.-290+15991_-290+16007dupTTTTTTTTTTTTTTTTT	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	1/22			chr4	TogoVar
CLPB_chr11_72280495_72439531	72286223	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02056.hp2 HG02622.hp2 others(1): Show HG02055.hp2 HG02056.hp2 HG02622.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0087 a0001c0001t0100 others(1): Show a0001c0001t0041 a0001c0001t0087 a0001c0001t0100 a0001c0001t0109	a0001c0001t0041g0154 a0001c0001t0087g0193 a0001c0001t0100g0115 others(1): Show a0001c0001t0041g0154 a0001c0001t0087g0193 a0001c0001t0100g0115 a0001c0001t0109g0202	4	60	0.0667	17	c.71 others(28): Show c.7127_*7143dupAAAAAAAAAAAAAAAAA	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	17/17	7143		chr11	TogoVar
CLPSL2_chr6_35771598_35784552	35775043	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02145.hp1 HG01074.hp2 HG02109.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	3	320	0.0094	17	c.-15 others(28): Show c.-1576_-1575insAAAAAAAAAAAAAAAAC	CLPSL2	ENSG00000196748.10	transcript	ENST00000403376.4	protein_coding		1554		chr6	TogoVar
CLPSL2_chr6_35771598_35784552	35775043	A A	AAAAAAAA others(10): Show AAAAAAAAAAAACAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	318	0.0031	17	c.-15 others(28): Show c.-1576_-1575insAAAAAAAAAAACAAAAC	CLPSL2	ENSG00000196748.10	transcript	ENST00000403376.4	protein_coding		1554		chr6	TogoVar
CLPX_chr15_65143219_65190342	65168383	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	21	0.0476	17	c.359 others(34): Show c.359-1615_359-1599dupTTTTTTTTTTTTTTTTT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding	3/13			chr15	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	294	0.0034	17	c.253 others(34): Show c.253+3142_253+3143insAAATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139998336	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02135.hp1 HG02135.hp2 others(4): Show HG01123.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02723.hp2 HG03041.hp1 NA19043.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0007c0020	a0001c0001t0001 a0002c0002t0001 a0002c0002t0011 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0011 a0002c0004t0017 a0007c0020t0034	a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0093 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0093 a0002c0002t0001g0022 a0002c0002t0011g0103 a0002c0004t0017g0061 a0007c0020t0034g0102	7	11	0.6364	17	c.109 others(36): Show c.109+62857_109+62873dupTTTTTTTTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140076625	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0053 a0001c0003t0012g0053	1	10	0.1000	17	c.110 others(36): Show c.110-99314_110-99298dupTTTTTTTTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140127031	A A	ATCATGTG others(10): Show ATCATGTGTCATTATATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	77	0.0130	17	c.110 others(36): Show c.110-48919_110-48918insCATGTGTCATTATATGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140127063	T T	TTATATGT others(10): Show TTATATGTATCATATGTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02723.hp2 HG01167.hp1 HG01169.hp2 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0012 a0002c0002t0001 a0001c0003t0012 a0002c0002t0001	a0001c0003t0012g0052 a0001c0003t0012g0053 a0002c0002t0001g0022 a0001c0003t0012g0052 a0001c0003t0012g0053 a0002c0002t0001g0022	3	110	0.0273	17	c.110 others(36): Show c.110-48888_110-48887insTATATGTATCATATGTC	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140438431	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG03516.hp1 HG02145.hp2 HG02622.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0006 a0002c0005t0004 a0001c0001t0006 a0002c0005t0004	a0001c0001t0006g0025 a0002c0005t0004g0038 a0002c0005t0004g0077 a0001c0001t0006g0025 a0002c0005t0004g0038 a0002c0005t0004g0077	3	6	0.5000	17	c.788 others(36): Show c.788-10082_788-10066dupAAAAAAAAAAAAAAAAA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUAP1_chr16_3496004_3544048	3529547	T T	TATATTAT others(10): Show TATATTATATATTATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	349	0.0029	17	c.929 others(34): Show c.929-1007_929-1006insATAATATTATATATTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3529633	T T	TTATTATA others(10): Show TTATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0291 a0002c0002t0017g0291	1	336	0.0030	17	c.929 others(32): Show c.929-919_929-918insATATTATATATTATATA	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUH_chr17_2684387_2716764	2693141	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03195.hp1 HG02896.hp2 HG03195.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0258 a0001c0010t0003g0261 a0001c0010t0003g0258 a0001c0010t0003g0261	2	5	0.4000	17	c.323 others(34): Show c.3232-282_3232-281insTTTTTTTTTTTTTTTTT	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	19/25			chr17	TogoVar
CLUL1_chr18_591988_655182	628915	G G	GAGCCACC others(10): Show GAGCCACCACACCCAGCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0399 a0001c0001t0001g0399	1	409	0.0024	17	c.856 others(34): Show c.856+1413_856+1429dupACCCAGCCAGCCACCAC	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLVS1_chr8_61282970_61506629	61357494	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG03017.hp1 others(2): Show HG00738.hp1 HG01192.hp1 HG03017.hp1 HG03669.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0046 a0001c0001t0001g0160 a0001c0001t0002g0112 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0160 a0001c0001t0002g0112 a0001c0001t0005g0089 a0001c0001t0014g0118	5	43	0.1163	17	c.456 others(36): Show c.456-19099_456-19083dupTTTTTTTTTTTTTTTTT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLYBL_chr13_99601690_99897570	99601833	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG00738.hp1 others(20): Show HG00639.hp2 HG00673.hp1 HG00738.hp1 HG01169.hp1 HG01361.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02165.hp1 HG02523.hp1 HG03239.hp1 HG04204.hp1 NA18947.hp1 NA18960.hp1 NA18964.hp1 NA18982.hp2 NA19004.hp1 NA19006.hp2 NA19060.hp2 NA19064.hp2 NA19077.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0170 others(20): Show a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0002c0002t0001g0176 a0002c0002t0001g0178 a0003c0003t0001g0182 a0003c0003t0001g0191 a0003c0003t0001g0205	23	82	0.2805	17	c.-48 others(28): Show c.-4863_-4862insTTTTTTTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding		4856		chr13	TogoVar
CLYBL_chr13_99601690_99897570	99624103	C C	CCTGTTTG others(10): Show CCTGTTTGGAACAGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00609.hp1 others(46): Show HG00099.hp2 HG00323.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG03239.hp1 HG03540.hp1 HG03669.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18946.hp2 NA18947.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA18998.hp2 NA19004.hp1 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19077.hp1 NA19085.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 others(46): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0005t0001g0194 a0002c0002t0001g0163 a0002c0002t0001g0176 a0002c0002t0001g0178 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0195 a0003c0003t0001g0205	49	216	0.2269	17	c.62+ others(34): Show c.62+17347_62+17348insTGTTTGGAACAGAGGAC	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99716169	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18979.hp2 NA19064.hp2 HG02896.hp1 NA18979.hp2 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0076 a0001c0001t0001g0199 a0003c0003t0001g0191 a0001c0001t0001g0076 a0001c0001t0001g0199 a0003c0003t0001g0191	3	53	0.0566	17	c.63- others(34): Show c.63-56633_63-56617dupTTTTTTTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833030	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	168	0.0060	17	c.250 others(36): Show c.250-25830_250-25829insATATATATATATTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833031	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	169	0.0059	17	c.250 others(36): Show c.250-25830_250-25829insATATATATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CMAS_chr12_22041218_22070668	22060333	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	36	0.0278	17	c.694 others(32): Show c.694-488_694-472dupAAAAAAAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMC1_chr3_28236619_28330142	28274206	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19010.hp1 HG02273.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0231 a0001c0001t0001g0176 a0001c0001t0001g0231	2	257	0.0078	17	c.109 others(36): Show c.109+10831_109+10832insTTTTTTTTTTTTTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28278044	C C	CTGATTGT others(10): Show CTGATTGTGTGATTGATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	239	0.0042	17	c.109 others(36): Show c.109+14688_109+14704dupTGTGATTGATGTGATTG	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965200	A A	ATATGCAT others(10): Show ATATGCATATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0253 a0001c0001t0022g0253	1	263	0.0038	17	c.10 others(30): Show c.10892_*10893insACATATATATATGCATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1247		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965245	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01928.hp2 HG01975.hp2 others(7): Show HG01167.hp1 HG01928.hp2 HG01975.hp2 HG02055.hp2 HG03490.hp1 HG03490.hp2 HG03927.hp1 NA18955.hp1 NA18993.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0024 a0001c0001t0044 others(4): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0044 a0001c0001t0049 a0001c0001t0108 a0002c0002t0074 a0002c0002t0097	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0195 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0195 a0001c0001t0024g0222 a0001c0001t0024g0226 a0001c0001t0044g0267 a0001c0001t0049g0225 a0001c0001t0108g0231 a0002c0002t0074g0164 a0002c0002t0097g0113	10	82	0.1220	17	c.10 others(30): Show c.10847_*10848insAAAAAAAAAAAAAAAAA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1202		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971562	T T	TATATATA others(10): Show TATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02080.hp2 others(7): Show HG01069.hp1 HG01071.hp2 HG02080.hp2 HG03516.hp2 NA18955.hp2 NA18961.hp1 NA18977.hp2 NA18990.hp2 NA19054.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0120 a0001c0001t0002 a0001c0001t0120	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0255 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0120g0235	10	290	0.0345	17	c.45 others(28): Show c.4530_*4531insTATATATATATATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4530		chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	81	0.0123	17	c.300 others(36): Show c.300+75028_300+75029insAGAGAGAGAGAGAGAGA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20			chr16	TogoVar
CMIP_chr16_81439808_81716762	81598968	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	150	0.0067	17	c.301 others(34): Show c.301-8593_301-8577dupAAAAAAAAAAAAAAAAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667766	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0198 a0001c0001t0006g0198	1	228	0.0044	17	c.826 others(34): Show c.826-2376_826-2375insGAGAGAGAGAGAGAGAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20			chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206171661	G G	GGCTCCTC others(10): Show GGCTCCTCACTTCCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	320	0.0031	17	c.45 others(28): Show c.4518_*4519insACTGGGAAGTGAGGAGC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		3654		chr2	TogoVar
CMPK1_chr1_47328790_47383839	47380250	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	179	0.0056	17	c.35 others(28): Show c.3505_*3506insTTTTTTTTTTTTTTTTT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding		1412		chr1	TogoVar
CMSS1_chr3_99812862_100186732	99948762	G G	GAAGGAAA others(10): Show GAAGGAAAGAAAAAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0002 a0001c0001t0018g0002	1	232	0.0043	17	c.64+ others(36): Show c.64+130738_64+130754dupAGGAAAGAAAAAGAGAA	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0055 a0001c0001t0010g0055	1	32	0.0313	17	c.64+ others(36): Show c.64+139653_64+139654insCTTTTTTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	32	0.0313	17	c.64+ others(36): Show c.64+139662_64+139678dupTTTTTTTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

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