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
ARHGAP19_chr10_97217179_97297637	97251754	G G	GAAGGGAA others(170): Show GAAGGGAAGGGGAAGGGAAGGGGAAAAGGGGGAAGGGAAGGGGGAAGGGA AGGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAGGGGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAGAAAGGGA AGGGCAAAGGGAAGGGAAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	242	0.0041	177	c.927 others(194): Show c.927+4563_927+4564insTCCCTTCCCTTTCCCTTCCCTTTGCCCT TCCCTTTCTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCTTCCCCTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCCT TCCCTTCCCCCTTCCCTTCCCCCTTTTCCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144531368	C C	CGAGCAGC others(170): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	246	0.0041	177	c.298 others(194): Show c.2981-674_2981-498dupCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCGTGA others(170): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGTGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTAGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0062 a0001c0001t0021g0062	1	246	0.0041	177	c.-15 others(188): Show c.-1553_-1552insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCACTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(170): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACAC ATTTACAGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTG ACCACACATTTACAGTGAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	246	0.0041	177	c.-15 others(188): Show c.-1589_-1588insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687515	C C	CGTGACCA others(170): Show CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	246	0.0041	177	c.-19 others(188): Show c.-1912_-1911insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1670		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687585	C C	CCGTGACC others(170): Show CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATT TACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	246	0.0041	177	c.-19 others(188): Show c.-1982_-1981insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTG TGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1740		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687814	G G	GGTGAGCA others(170): Show GGTGAGCACTTCCCACCCCATGACCACACATTTACAGCGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	246	0.0041	177	c.-22 others(188): Show c.-2211_-2210insTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGG TCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCGCTGTAAATGTGTGGTCATGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1969		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1919969	T T	TTCTGTGG others(170): Show TTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGGTG ATAAACTGTTCTGTCAGTGATGGAGCTGTTCTATGGGTGATGGAGCTGTT CTGTGGGTGATGGAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAGTGAT GGAGCTGTGCTGTGGATGATGGAGCTGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0352 a0001c0007t0003g0352	1	363	0.0028	177	c.214 others(196): Show c.2144-2949_2144-2948insGTGATAAACTGTTCTGTCAGTGATGG AGCTGTTCTATGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTG TGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTGCTGTGGATGATGGA GCTGCTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTG G	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCCCCTCC others(170): Show CCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCGCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCCCTCCCC CTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	264	0.0038	177	c.102 others(194): Show c.1024+306_1024+307insCCCTCCCTCCCCCTCCCCCTCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCGCTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCT CCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASB16_chr17_44165704_44184084	44181058	G G	GGTCAGCC others(170): Show GGTCAGCCCCCGCCCGGCCAGCCGCCCTGTCCCGGGACGGGGGAGGTGGG GGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	362	0.0028	177	c.26 others(188): Show c.2668_*2669insGTCAGCCCCCGCCCGGCCAGCCGCCCTGTCCCGG GACGGGGGAGGTGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGA	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		1975		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGAG others(170): Show GGAGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCAG GGGAGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGAGG AGGAAGGGAGAGGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGGG AGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	432	0.0023	177	c.124 others(194): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCCTCTCCCTTCCT CCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCTCCC CTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(170): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GAGGGGGAGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04199.hp1 HG03239.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0253 a0001c0001t0001g0217 a0001c0001t0001g0253	2	432	0.0046	177	c.124 others(194): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCTCCCCCTC CCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTCC TCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCCCC TGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ATF1_chr12_50759101_50826162	50823521	T T	TTATATAT others(170): Show TTATATATTATATATATAATCTATATTATATATAATATAGATTATATATA TAATATAGATTATATATATAATCTATATTATATATAATATAGATTATATA ATCTATATTATATATATAATCTATATTATATATAATCTATATTATATATA TAATCTATATTATATATAATATAGATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	382	0.0026	177	c.37 others(188): Show c.3742_*3743insTATATATTATATATATAATCTATATTATATATAA TATAGATTATATATATAATATAGATTATATATATAATCTATATTATATAT AATATAGATTATATAATCTATATTATATATATAATCTATATTATATATAA TCTATATTATATATATAATCTATATTATATATAATATAGATTA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2360		chr12	TogoVar
ATG10_chr5_81967023_82261133	82140243	G G	GGGGGGTC others(170): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp1 HG02970.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0015 a0002c0002t0004 a0002c0002t0015	a0002c0002t0004g0210 a0002c0002t0015g0209 a0002c0002t0004g0210 a0002c0002t0015g0209	2	226	0.0089	177	c.217 others(196): Show c.217-24151_217-24150insTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG G	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(170): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp1 HG01261.hp1 others(40): Show HG00408.hp1 HG01074.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG02040.hp1 HG02080.hp2 HG02523.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03471.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18942.hp2 NA18954.hp1 NA18962.hp1 NA18971.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19001.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19081.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0021 a0001c0001t0035 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0033 a0002c0004t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0001c0001t0001g0125 a0001c0001t0002g0214 a0001c0001t0003g0003 others(35): Show a0001c0001t0001g0125 a0001c0001t0002g0214 a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0114 a0001c0001t0003g0221 a0001c0001t0003g0227 a0001c0001t0004g0218 a0001c0001t0014g0220 a0001c0001t0021g0223 a0001c0001t0035g0222 a0001c0007t0003g0146 a0001c0007t0003g0147 a0002c0002t0001g0040 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0002g0111 a0002c0002t0003g0267 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0005g0083 a0002c0002t0005g0110 a0002c0002t0005g0117 a0002c0002t0005g0270 a0002c0002t0033g0281 a0002c0004t0002g0279 a0003c0003t0001g0060 a0003c0003t0001g0119 a0003c0003t0001g0312 a0003c0003t0002g0128 a0003c0003t0003g0003 a0003c0003t0003g0115 a0003c0003t0003g0118	43	378	0.1138	177	c.960 others(194): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(170): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0033 a0002c0004t0001g0033	2	378	0.0053	177	c.960 others(194): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(170): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTTCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03704.hp1 HG01255.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0040 a0002c0016t0024 a0002c0002t0040 a0002c0016t0024	a0002c0002t0040g0242 a0002c0016t0024g0148 a0002c0002t0040g0242 a0002c0016t0024g0148	2	378	0.0053	177	c.960 others(194): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(170): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0086 a0003c0003t0001g0086	1	378	0.0027	177	c.960 others(194): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATATAA others(170): Show TTATATAATATATTATATATACATGTATATATAATATATTATATATACAT GTATATATAATATATTATATATACATGTATATATATTATATATACATGTA TATATAATATATTATATATACATGTATATATAATATATTATATATACATG TATATATAATATATTATATATACATGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0021 a0001c0002t0005g0021	1	236	0.0042	177	c.676 others(194): Show c.676-3634_676-3633insTACATGTATATATAATATATTATATATA CATGTATATATAATATATTATATATACATGTATATATAATATATTATATA TACATGTATATATAATATATATACATGTATATATAATATATTATATATAC ATGTATATATAATATATTATATATACATGTATATATAATATATTATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
AVL9_chr7_32490489_32593726	32579557	T T	TATAATAT others(170): Show TATAATATATTATATTATATATTATATATTATATATATAATATATTATAT TATATATTATATATTATATATATAATATATTATATTATATATTATATATT ATATATATAATATATTATATTATATATTATGTATATAATATATTATATTA TATATTATGTATATAATATATTATATTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0152 a0002c0003t0002g0152	1	330	0.0030	177	c.168 others(194): Show c.1689-662_1689-661insATAATATATTATATTATATATTATATAT TATATATATAATATATTATATTATATATTATATATTATATATATAATATA TTATATTATATATTATATATTATATATATAATATATTATATTATATATTA TGTATATAATATATTATATTATATATTATGTATATAATATATTATATTA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15			chr7	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(170): Show GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	184	0.0054	177	c.784 others(192): Show c.784-574_784-573insAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(170): Show TTATATATATTATATATATATTTATATATATATAATATATATATTTTTAT ATATATATATTATATATATATTTATATATATATATTATATATATATTTAT ATATATATATTATATATATTTATATATATATATATTATATATATATTTAT ATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0075 a0016c0026t0001g0075	1	216	0.0046	177	c.-2- others(194): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATAAATATATATATAATATATATATATATAAATATATATAATATATATAT ATAAATATATATATAATATATATATATAAATATATATATAATATATATAT ATAAAAATATATATATTATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(170): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATTATATATATATTTATAT ATATATATATTATATATATTTATATATATATATATTATATATATATTTAT ATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0070 a0004c0004t0001g0070	1	216	0.0046	177	c.-2- others(194): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATAAATATATATATAATATATATATATATAAATATATATAATATATATAT ATATAAATATATATATAATATATATAAATATATATATAATATATATATAT ATAAATATATATATTATATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCHE_chr3_165767904_165842423	165797259	T T	TCCCCCCC others(170): Show TCCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCC CCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCC CTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTC TTCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	304	0.0033	177	c.151 others(198): Show c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGA GGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGG GGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCACCGC others(170): Show CCCACCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCCC CCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGAC CAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGCC CCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0191 a0001c0004t0001g0191	1	258	0.0039	177	c.323 others(192): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGTGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCCGC others(170): Show CCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCCC CCCTCGCCGAACCACCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGAC CAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGCC CCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	258	0.0039	177	c.323 others(192): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGGTGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCCGC others(170): Show CCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCCC CCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGAC CAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGCC CCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02622.hp1 others(9): Show HG02109.hp2 HG02451.hp1 HG02622.hp1 HG02818.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03492.hp2 HG03540.hp2 HG03927.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0002c0003t0003	a0001c0001t0001g0143 a0001c0001t0001g0170 a0001c0001t0001g0175 others(9): Show a0001c0001t0001g0143 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0006t0001g0056 a0002c0003t0003g0222 a0002c0003t0003g0230 a0002c0003t0003g0240	12	258	0.0465	177	c.323 others(192): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCGCCGCC others(170): Show CCGCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCCCC CCTCGCCGAACCACCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGACC AACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCCGCC CCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	258	0.0039	177	c.323 others(192): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGG TCGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGGTGGTTCGGCGAGGGG GGCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGCG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
C10orf90_chr10_126419997_126675693	126564850	T T	TATTATAT others(170): Show TATTATATATAATATATATTTTATATTATATAAATATATATTATATATAA TATATTTTATATATTATATAAAATATATATTAAATATATATTATATATAA TATAAAATATATTATATATAATATATAAAATATATATTATATATAATATA TAAAATATAAATATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	218	0.0046	177	c.314 others(196): Show c.314-50912_314-50911insTTATATTATTATATATATTTATATTT TATATATTATATATAATATATATTTTATATATTATATATAATATATTTTA TATTATATATAATATATATTTAATATATATTTTATATAATATATAAAATA TATTATATATAATATATATTTATATAATATAAAATATATATTATATATAA T	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C1orf21_chr1_184382029_184634019	184410654	T T	TAATATAT others(170): Show TAATATATATATATTATATATATATATAATATATATATATTATATATATA TATAATATATATATATTATATATATATATAATATATATATATTATATATA TATATAATATATATATATTATATATATATAATATATATATATTATATATA TATAATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	232	0.0043	177	c.-12 others(198): Show c.-125+23287_-125+23288insATATATATATATTATATATATATA TAATATATATATATTATATATATATATAATATATATATATTATATATATA TATAATATATATATATTATATATATATATAATATATATATATTATATATA TATAATATATATATATTATATATATATAATATATATATATTATATATATA TAA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C2orf16_chr2_27532386_27587722	27539826	C C	CGCCCCTC others(170): Show CGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0051 a0051	a0051c0030 a0051c0030	a0051c0030t0002 a0051c0030t0002	a0051c0030t0002g0008 a0051c0030t0002g0008	1	326	0.0031	177	c.144 others(194): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf22_chr3_126544692_126563932	126559166	T T	TCTGCGGC others(170): Show TCTGCGGCCCGGGGAGGAGGAGAGGCCTCACCTGGCCCAGCCCGCTCCAC GCTCTCGGGTTCGCTCCGCTGGCGACGGTAATGAGGGAGCCAGGGACAGG GCCAGAGCAGAGGCGCTCTGCCTCAGGCCGCGACAGCCGTGCTCGGGGCT CCTCACAGCTGGCGGGACCCCGAGACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 NA21309.hp1 HG01981.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0087 a0001c0001t0003g0090	2	408	0.0049	177	c.-58 others(186): Show c.-581_-580insGCGTCTCGGGGTCCCGCCAGCTGTGAGGAGCCCCGA GCACGGCTGTCGCGGCCTGAGGCAGAGCGCCTCTGCTCTGGCCCTGTCCC TGGCTCCCTCATTACCGTCGCCAGCGGAGCGAACCCGAGAGCGTGGAGCG GGCTGGGCCAGGTGAGGCCTCTCCTCCTCCCCGGGCCGCAG	C3orf22	ENSG00000180697.9	transcript	ENST00000318225.3	protein_coding		235		chr3	TogoVar
C8orf82_chr8_144520733_144534111	144531368	C C	CGAGCAGC others(170): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG01358.hp1 HG01123.hp2 HG01261.hp2 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0002 a0001c0002t0014	a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0014g0042 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0014g0042	3	398	0.0075	177	c.-26 others(188): Show c.-2629_-2453dupCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2258		chr8	TogoVar
CABLES2_chr20_62383634_62412285	62398076	G G	GTGGTGAC others(170): Show GTGGTGACGGTGGTGGTGGTGGTGATGGCGGTGGTGGTGATGGTTATGAC GGTGGTGATGGTGGTGGTGGTGATGGCGGTGGTGGTGATGGTGGTGACGG TGGTGATGGCGGTGATGGTGATGATGGTGATGGTTATGGCGGTGGTGGTG ACAGTGATGGCGATGGTGATGATGGCGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	400	0.0025	177	c.363 others(194): Show c.363-1485_363-1484insTCGCCATCATCACCATCGCCATCACTGT CACCACCACCGCCATAACCATCACCATCATCACCATCACCGCCATCACCA CCGTCACCACCATCACCACCACCGCCATCACCACCACCACCATCACCACC GTCATAACCATCACCACCACCGCCATCACCACCACCACCACCGTCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(170): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTC TCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0020 a0020	a0020c0074 a0020c0074	a0020c0074t0012 a0020c0074t0012	a0020c0074t0012g0161 a0020c0074t0012g0161	1	218	0.0046	177	c.573 others(196): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGA A	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(170): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTC TCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03942.hp1 HG02683.hp2 HG03942.hp1	a0002 a0004 a0002 a0004	a0002c0124 a0004c0007 a0002c0124 a0004c0007	a0002c0124t0006 a0004c0007t0004 a0002c0124t0006 a0004c0007t0004	a0002c0124t0006g0132 a0004c0007t0004g0105 a0002c0124t0006g0132 a0004c0007t0004g0105	2	218	0.0092	177	c.573 others(196): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGA A	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137888962	A A	AACAGGTG others(170): Show AACAGGTGACAGCCCAGAGACGCTGCCTTCCCGCAAGGCGACCTGACGCT GTGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCCACAAGGCGA CCTGACGCTGTGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCC GCAAGGCGACCTGACGCTGTGTCTGAAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02976.hp1 HG03139.hp1 others(3): Show HG02896.hp2 HG02976.hp1 HG03139.hp1 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0004 a0005 a0008 a0004 a0005 a0008	a0004c0023 a0004c0043 a0005c0039 others(1): Show a0004c0023 a0004c0043 a0005c0039 a0008c0019	a0004c0023t0008 a0004c0043t0009 a0005c0039t0032 others(2): Show a0004c0023t0008 a0004c0043t0009 a0005c0039t0032 a0008c0019t0017 a0008c0019t0025	a0004c0023t0008g0077 a0004c0043t0009g0078 a0005c0039t0032g0079 others(3): Show a0004c0023t0008g0077 a0004c0043t0009g0078 a0005c0039t0032g0079 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	6	248	0.0242	177	c.530 others(194): Show c.530+6169_530+6170insACAAGGCGACCTGACGCTGTGTCTGAAC ACAGGTGACAGCCCAGAGACGCTGCCTTCCCGCAAGGCGACCTGACGCTG TGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCCGCAAGGCGAC CTGACGCTGTGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNB4_chr2_151827771_152104044	151875697	C C	CGGGGCGG others(170): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTCGCCAGGCAGGG GGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGG GCTGACCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18981.hp2 NA19067.hp2 NA18971.hp1 NA18981.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0148 a0001c0001t0013g0191 a0001c0001t0013g0091 a0001c0001t0013g0148 a0001c0001t0013g0191	3	230	0.0130	177	c.521 others(192): Show c.521+728_521+729insCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCC CTGCCTGGCGAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151875801	A A	ACCCCCCC others(170): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGTCTCGCCTGGCGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0151 a0001c0003t0008g0151	1	230	0.0044	177	c.521 others(192): Show c.521+624_521+625insGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTC AGCCCCCCGCCAGGCGAGACGCCCCGTCCGGGAGGGAGGTGGGGGGG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(170): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0036 a0001c0001t0116g0036	1	246	0.0041	177	c.625 others(194): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111450631	T T	TACAAAAA others(170): Show TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCA GTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0212 a0001c0001t0010g0212	1	246	0.0041	177	c.625 others(194): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10			chr5	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(170): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGA AGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAAAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0163 a0001c0007t0009g0163	1	364	0.0028	177	c.234 others(194): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTTTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCT TCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244486372	G G	GGTACTCG others(170): Show GGTACTCGTGGGCCAGGTACAGACCCTCGTAGTCACGTGGTGGGTGGTTC AGCGTGTGGAATACTCGTGGGCCAGGTACAGACCCTTGTAGTCACGTGGT GGGTGGTCCAGCATGTGGAGTACTCGTGGGCCAGGTACAGACCCTCGTAG TCACCTGGTGGGTGGTTCAGCATGTGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	206	0.0049	177	c.327 others(194): Show c.327-3981_327-3980insGTGGTGGGTGGTCCAGCATGTGGAGTAC TCGTGGGCCAGGTACAGACCCTCGTAGTCACCTGGTGGGTGGTTCAGCAT GTGGAGTACTCGTGGGCCAGGTACAGACCCTCGTAGTCACGTGGTGGGTG GTTCAGCGTGTGGAATACTCGTGGGCCAGGTACAGACCCTTGTAGTCAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH4_chr20_61247261_61945617	61273536	T T	TACCGTGT others(170): Show TACCGTGTGCAGTTTGGGGGAGTATTGGGGGAGTACCATGTGCAGTTTGG GGGAGGACCATGTGCAGTTTAGGGGAGTACCGTGTGCAGTTTGGGGGAGT ATTGGGGAAGTACCATGTGCAGTTTGGGGGAATACCATGTGCAACTTGGG GGAGTACCATGCACAGCTTGGGGGAGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02109.hp2 HG02647.hp1	a0002 a0002	a0002c0008 a0002c0016 a0002c0008 a0002c0016	a0002c0008t0004 a0002c0016t0004 a0002c0008t0004 a0002c0016t0004	a0002c0008t0004g0041 a0002c0016t0004g0042 a0002c0008t0004g0041 a0002c0016t0004g0042	2	106	0.0189	177	c.169 others(196): Show c.169+18615_169+18616insGGGAGTATTGGGGGAGTACCATGTGC AGTTTGGGGGAGGACCATGTGCAGTTTAGGGGAGTACCGTGTGCAGTTTG GGGGAGTATTGGGGAAGTACCATGTGCAGTTTGGGGGAATACCATGTGCA ACTTGGGGGAGTACCATGCACAGCTTGGGGGAGTAACCGTGTGCAGTTTG G	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDYL2_chr16_80592907_80809598	80763272	A A	ACTCAACA others(170): Show ACTCAACAGCTAACCTATCCCCATTATCTCCAACAAAGAATAGAATCTTT TCATCAGGGCTAGGCATGGTTTCAAACCTGTAATCCCAGCACTGATGAAA AGATTCTATTCTTTGTTGGAGATAATGGGGACAGGTTAGCTGTTGAGTAG ACACAGTTGATTCTCGTTACTTGTGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(102): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0063 a0001c0001t0067 a0001c0001t0068 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0021 a0001c0002t0022 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0034 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0001c0002t0044 a0001c0002t0046 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0058 a0001c0002t0059 a0001c0002t0061 a0001c0002t0062 a0001c0002t0072 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0016 a0001c0003t0019 a0001c0003t0041 a0001c0003t0071 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0004t0011 a0001c0004t0016 a0001c0004t0020 a0001c0004t0027 a0001c0004t0064 a0001c0004t0066 a0001c0005t0002 a0001c0005t0011 a0001c0005t0014 a0001c0005t0020 a0001c0005t0024 a0001c0005t0035 a0001c0006t0008 a0001c0007t0014 a0001c0007t0025 a0001c0008t0008 a0001c0009t0007 a0001c0010t0007 a0001c0012t0017 a0001c0013t0070 a0001c0014t0065 a0001c0015t0002 a0001c0016t0001 a0001c0017t0004 a0001c0018t0053 a0001c0019t0018 a0001c0020t0008 a0002c0011t0001 a0002c0011t0055	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0023 others(252): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0002g0020 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0148 a0001c0001t0002g0157 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0220 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0086 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0183 a0001c0001t0003g0249 a0001c0001t0004g0190 a0001c0001t0004g0224 a0001c0001t0004g0233 a0001c0001t0005g0226 a0001c0001t0006g0058 a0001c0001t0006g0090 a0001c0001t0006g0096 a0001c0001t0006g0150 a0001c0001t0006g0209 a0001c0001t0006g0243 a0001c0001t0007g0001 a0001c0001t0007g0125 a0001c0001t0010g0063 a0001c0001t0010g0075 a0001c0001t0010g0082 a0001c0001t0010g0094 a0001c0001t0010g0129 a0001c0001t0010g0211 a0001c0001t0011g0048 a0001c0001t0012g0011 a0001c0001t0012g0097 a0001c0001t0013g0050 a0001c0001t0013g0218 a0001c0001t0013g0230 a0001c0001t0013g0232 a0001c0001t0014g0145 a0001c0001t0015g0231 a0001c0001t0017g0084 a0001c0001t0017g0128 a0001c0001t0018g0114 a0001c0001t0023g0002 a0001c0001t0026g0182 a0001c0001t0032g0110 a0001c0001t0033g0159 a0001c0001t0036g0223 a0001c0001t0037g0119 a0001c0001t0040g0044 a0001c0001t0043g0087 a0001c0001t0045g0132 a0001c0001t0047g0225 a0001c0001t0052g0221 a0001c0001t0054g0214 a0001c0001t0056g0172 a0001c0001t0057g0054 a0001c0001t0060g0039 a0001c0001t0063g0147 a0001c0001t0067g0254 a0001c0001t0068g0255 a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0091 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0124 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0200 a0001c0002t0001g0208 a0001c0002t0001g0245 a0001c0002t0001g0250 a0001c0002t0002g0032 a0001c0002t0002g0053 a0001c0002t0002g0089 a0001c0002t0002g0102 a0001c0002t0002g0156 a0001c0002t0002g0204 a0001c0002t0003g0008 a0001c0002t0003g0042 a0001c0002t0003g0136 a0001c0002t0003g0181 a0001c0002t0003g0198 a0001c0002t0003g0248 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0123 a0001c0002t0004g0144 a0001c0002t0004g0187 a0001c0002t0004g0189 a0001c0002t0004g0193 a0001c0002t0005g0005 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0037 a0001c0002t0006g0034 a0001c0002t0006g0078 a0001c0002t0006g0079 a0001c0002t0006g0135 a0001c0002t0009g0127 a0001c0002t0012g0029 a0001c0002t0012g0072 a0001c0002t0012g0212 a0001c0002t0013g0179 a0001c0002t0014g0203 a0001c0002t0015g0007 a0001c0002t0015g0027 a0001c0002t0021g0028 a0001c0002t0021g0222 a0001c0002t0022g0105 a0001c0002t0022g0194 a0001c0002t0028g0026 a0001c0002t0029g0017 a0001c0002t0030g0122 a0001c0002t0031g0143 a0001c0002t0034g0139 a0001c0002t0038g0197 a0001c0002t0039g0229 a0001c0002t0042g0207 a0001c0002t0044g0030 a0001c0002t0046g0161 a0001c0002t0048g0142 a0001c0002t0049g0167 a0001c0002t0050g0191 a0001c0002t0051g0234 a0001c0002t0058g0160 a0001c0002t0059g0201 a0001c0002t0061g0176 a0001c0002t0062g0140 a0001c0002t0072g0257 a0001c0003t0002g0043 a0001c0003t0002g0107 a0001c0003t0002g0112 a0001c0003t0002g0116 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0004g0106 a0001c0003t0005g0010 a0001c0003t0005g0069 a0001c0003t0005g0131 a0001c0003t0005g0162 a0001c0003t0005g0163 a0001c0003t0005g0164 a0001c0003t0005g0213 a0001c0003t0008g0061 a0001c0003t0016g0068 a0001c0003t0016g0117 a0001c0003t0019g0047 a0001c0003t0019g0120 a0001c0003t0041g0251 a0001c0003t0071g0256 a0001c0004t0003g0018 a0001c0004t0004g0217 a0001c0004t0009g0038 a0001c0004t0009g0046 a0001c0004t0009g0077 a0001c0004t0009g0109 a0001c0004t0009g0121 a0001c0004t0011g0045 a0001c0004t0016g0196 a0001c0004t0020g0111 a0001c0004t0027g0206 a0001c0004t0064g0205 a0001c0004t0066g0093 a0001c0005t0002g0242 a0001c0005t0011g0066 a0001c0005t0011g0092 a0001c0005t0011g0235 a0001c0005t0014g0228 a0001c0005t0020g0115 a0001c0005t0024g0003 a0001c0005t0035g0244 a0001c0006t0008g0076 a0001c0006t0008g0085 a0001c0007t0014g0065 a0001c0007t0025g0004 a0001c0008t0008g0019 a0001c0008t0008g0067 a0001c0009t0007g0013 a0001c0009t0007g0202 a0001c0010t0007g0108 a0001c0010t0007g0118 a0001c0012t0017g0056 a0001c0013t0070g0253 a0001c0014t0065g0070 a0001c0015t0002g0071 a0001c0016t0001g0227 a0001c0017t0004g0210 a0001c0018t0053g0146 a0001c0019t0018g0141 a0001c0020t0008g0012 a0002c0011t0001g0199 a0002c0011t0055g0025	256	258	0.9923	177	c.24+ others(194): Show c.24+40877_24+40878insAACCACAAGTAACGAGAATCAACTGTGT CTACTCAACAGCTAACCTGTCCCCATTATCTCCAACAAAGAATAGAATCT TTTCATCAGTGCTGGGATTACAGGTTTGAAACCATGCCTAGCCCTGATGA AAAGATTCTATTCTTTGTTGGAGATAATGGGGATAGGTTAGCTGTTGAG	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80763272	A A	ACTCAACA others(170): Show ACTCAACAGCTAACCTATCCCCATTATCTCCAACAAAGAATAGAATCTTT TCATCAGGGCTAGGCATGGTTTCAAACCTGTAATCCCAGCACTGATGAAA AGATTCTATTCTTTGTTGGAGATAATGGGGTCAGGTTAGCTGTTGAGTAG ACACAGTTGATTCTCGTTACTTGTGGTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0069 a0001c0005t0069	a0001c0005t0069g0252 a0001c0005t0069g0252	1	258	0.0039	177	c.24+ others(194): Show c.24+40877_24+40878insAACCACAAGTAACGAGAATCAACTGTGT CTACTCAACAGCTAACCTGACCCCATTATCTCCAACAAAGAATAGAATCT TTTCATCAGTGCTGGGATTACAGGTTTGAAACCATGCCTAGCCCTGATGA AAAGATTCTATTCTTTGTTGGAGATAATGGGGATAGGTTAGCTGTTGAG	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CELF2_chr10_11012872_11341675	11284232	G G	GGGATGAG others(170): Show GGGATGAGTGTGTGGTGGGTGGATGATGGATGGAGGGGGGGGGACGATGG ATGAGTGTGTGGTAGGTGGACGATGGATGAGTGTGTGGTGGGTGGATGAG GGATGAGTGTGTGGTGGGTGGATGATGGATAAGTGTCTGGTGAGTGGATG AGGGATGAGTGTGTGGTGGGTGGATGAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0166 a0001c0008t0003g0166	1	194	0.0052	177	c.842 others(194): Show c.842-4181_842-4180insAGTGTGTGGTGGGTGGATGATGGATGGA GGGGGGGGGACGATGGATGAGTGTGTGGTAGGTGGACGATGGATGAGTGT GTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATAAGT GTCTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(170): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGGGAGAG AAGGAAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGAAGGGA GGAAGGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01515.hp1 HG01517.hp2 others(13): Show HG01071.hp2 HG01515.hp1 HG01517.hp2 HG02132.hp2 HG02698.hp1 HG02970.hp1 NA18948.hp1 NA18966.hp2 NA18971.hp2 NA18986.hp1 NA18995.hp2 NA19060.hp2 NA19063.hp1 NA19070.hp1 NA19086.hp2 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0029 a0006c0006t0001 a0006c0006t0004 a0006c0006t0009	a0001c0001t0001g0257 a0001c0001t0001g0301 a0001c0001t0001g0304 others(12): Show a0001c0001t0001g0257 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0001 a0001c0001t0002g0316 a0001c0001t0010g0319 a0001c0001t0029g0013 a0006c0006t0001g0308 a0006c0006t0004g0298 a0006c0006t0009g0259	16	320	0.0500	177	c.-12 others(194): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCTCCTCCCCCTACCCTCCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CENPJ_chr13_24877279_24927861	24882061	C C	CATCTATA others(170): Show CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTAGATATATAGATACATCATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAATC TATATAGATACATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0116 a0002c0003t0003g0116	1	440	0.0023	177	c.11 others(188): Show c.1115_*1116insTATATATCTATATAGATGTATCTATATAGATTAT ATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCT ATATAGATGATGTATCTATATATCTAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		217		chr13	TogoVar
CEP72_chr5_607340_658553	650590	G G	GGCGTGGA others(170): Show GGCGTGGACTGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGACTGTG AGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGTGTGCCT GTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGTGT GACTGAGGTGTGACTGTGAGGCGTGGAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp1 HG02109.hp2 others(4): Show HG01255.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 NA18948.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0006t0001g0012 a0001c0006t0001g0024	7	91	0.0769	177	c.177 others(196): Show c.1779-2398_1779-2397insGCGTGGACTGTGAGGCGTGACTGAGG CGTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGTG AGGCGTGACTGTGAGGTGTGCCTGTGAGGCGTGGACTGTGAGGCGTGGAC TGTGAGGGGTGACTGTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGA C	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar

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