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
C2CD4C_chr19_400445_414147	410796	C C	CCGGATCC others(289): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG ATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGAT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0160 a0001c0001t0054g0160	1	265	0.0038	296	c.-18 others(307): Show c.-1832_-1831insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1650		chr19	TogoVar
C2CD4C_chr19_400445_414147	410832	C C	CCCGGATC others(289): Show CCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGG GGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCG CCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCA CGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGTCCACCGCC CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0159 a0001c0001t0053g0159	1	318	0.0031	296	c.-18 others(307): Show c.-1868_-1867insTCCCAGCAGGGGCGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA TCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCG GGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGG CGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATC CCCAGGATCCGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1686		chr19	TogoVar
C2CD4C_chr19_400445_414147	410846	G G	GTCTGTCC others(289): Show GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGAT CTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCC CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	278	0.0036	296	c.-18 others(307): Show c.-1882_-1881insTCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1700		chr19	TogoVar
C2CD4C_chr19_400445_414147	410846	G G	GTCTGTCC others(289): Show GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGG ATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0036 a0002c0003t0036	a0002c0003t0036g0119 a0002c0003t0036g0119	1	278	0.0036	296	c.-18 others(307): Show c.-1882_-1881insTCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1700		chr19	TogoVar
C2CD4C_chr19_400445_414147	410846	G G	GTCTGTCC others(289): Show GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTTGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGAT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGG ATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0041 a0001c0001t0027g0041	1	278	0.0036	296	c.-18 others(307): Show c.-1882_-1881insTCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGG GCGGTGGACAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1700		chr19	TogoVar
C2CD4C_chr19_400445_414147	411119	C C	CCTGCTGG others(289): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCCC TGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04228.hp2 HG04115.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0084 a0001c0001t0083 a0001c0001t0084	a0001c0001t0083g0162 a0001c0001t0084g0163 a0001c0001t0083g0162 a0001c0001t0084g0163	2	183	0.0109	296	c.-21 others(307): Show c.-2155_-2154insAGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGTGCCCAGCAGGGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1973		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(289): Show TCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCACCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 NA19090.hp2 HG01993.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0036 a0001c0001t0007 a0002c0003t0036	a0001c0001t0007g0019 a0002c0003t0036g0119 a0001c0001t0007g0019 a0002c0003t0036g0119	2	109	0.0183	296	c.-23 others(307): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGTGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGTGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(289): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCACCCCTGCTGGGCACG GATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0095 a0001c0001t0116g0095	1	108	0.0093	296	c.-23 others(307): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACA GATCCCCAGGATCCGTGCCCAGCAGGGGTGGTGGACAGACCCCCAGGATC CGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(289): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACG GATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCACCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0099 a0001c0001t0038g0099	1	108	0.0093	296	c.-23 others(307): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGTGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATC CGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C7orf50_chr7_992006_1143247	1031544	C C	CGGCAGAG others(289): Show CGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGA CCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGT GGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03927.hp1 HG01433.hp2 HG03927.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0003 a0001c0001 a0006c0003	a0001c0001t0011 a0006c0003t0011 a0001c0001t0011 a0006c0003t0011	a0001c0001t0011g0252 a0006c0003t0011g0270 a0001c0001t0011g0252 a0006c0003t0011g0270	2	299	0.0067	296	c.130 others(315): Show c.130-21402_130-21401insCCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGCAG GTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCC CGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCCCGGACCACTCTGC CCTCCCTGCAGGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1204956	G G	GCCCAGAT others(289): Show GCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGT GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0014 a0014	a0014c0084 a0014c0084	a0014c0084t0006 a0014c0084t0006	a0014c0084t0006g0114 a0014c0084t0006g0114	1	167	0.0060	296	c.245 others(313): Show c.2452-155_2452-154insAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CAGATCAG others(289): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCA GTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGG GAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTG GGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGC GGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG ACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19065.hp2 HG01261.hp2 NA19065.hp2	a0002 a0003 a0002 a0003	a0002c0057 a0003c0015 a0002c0057 a0003c0015	a0002c0057t0002 a0003c0015t0017 a0002c0057t0002 a0003c0015t0017	a0002c0057t0002g0138 a0003c0015t0017g0272 a0002c0057t0002g0138 a0003c0015t0017g0272	2	32	0.0625	296	c.245 others(313): Show c.2452-154_2452-153insAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCA GATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTG CCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAG GGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGA GCCGCGGGTGGGGCCCCA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34			chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39602010	T T	TTCCCTCC others(289): Show TTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	192	0.0052	296	c.482 others(313): Show c.482+1360_482+1361insCTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCC GCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNB4_chr2_151827771_152104044	151876729	C C	CTATATAC others(289): Show CTATATACTATATTTTATATAAACTATATTTTATATGTATATGTGTGTAT ACTATATTTTATATACTATACTATAGACTATATTTTATATAAACTATATT TTATATGTATATGTGTGTATACTATATTTTATATACTATACTATAGACTA TATTTTATATAAACTATATTTTATATGTATATGTGTGTATACTATATTTT ATATACTATACTATATACTATATTTTATATAAACTATATTTTATATGTAT ATGTGTGTATACTATATTTTATATACTATACTATAGACTATATTTTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	173	0.0058	296	c.391 others(311): Show c.391-174_391-173insTAAAATATAGTCTATAGTATAGTATATAAA ATATAGTATACACACATATACATATAAAATATAGTTTATATAAAATATAG TATATAGTATAGTATATAAAATATAGTATACACACATATACATATAAAAT ATAGTTTATATAAAATATAGTCTATAGTATAGTATATAAAATATAGTATA CACACATATACATATAAAATATAGTTTATATAAAATATAGTCTATAGTAT AGTATATAAAATATAGTATACACACATATACATATAAAATATAGTTTATA TAAAATATAGTATATA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151876729	C C	CTATATAC others(289): Show CTATATACTATATTTTATATAAACTATATTTTATATGTATATGTGTGTAT ACTATATTTTATATACTATACTATATACTATATTTTATATAAACTATATT TTATATGTATATGTGTGTATACTATATTTTATATACTATACTATAGACTA TATTTTATATAAACTATATTTTATATGTATATGTGTGTATACTATATTTT ATATACTATACTATATACTATATTTTATATAAACTATATTTTATATGTAT ATGTGTGTATACTATATTTTATATACTATACTATAGACTATATTTTA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0191 a0001c0001t0012g0191	1	173	0.0058	296	c.391 others(311): Show c.391-174_391-173insTAAAATATAGTCTATAGTATAGTATATAAA ATATAGTATACACACATATACATATAAAATATAGTTTATATAAAATATAG TATATAGTATAGTATATAAAATATAGTATACACACATATACATATAAAAT ATAGTTTATATAAAATATAGTCTATAGTATAGTATATAAAATATAGTATA CACACATATACATATAAAATATAGTTTATATAAAATATAGTATATAGTAT AGTATATAAAATATAGTATACACACATATACATATAAAATATAGTTTATA TAAAATATAGTATATA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNG7_chr19_53904278_53948950	53920802	T T	TCGTCCCC others(289): Show TCGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGTCATTGG TGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATT GCTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGG TATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCT GGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCA GGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	364	0.0027	296	c.424 others(313): Show c.424+5297_424+5298insCGTCCCCAGGTCTGGTCATTGGTGGAGT TGCCTCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGG AGTTGCCCCAGGTCTGGTATTGCTGGAGTTGTCCCCAGGCCTGGTCATTG GTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCA TTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGG TCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGG TCTGGTCATTGGTGGAGC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(289): Show TATATACATATATATGTGTATATATATGTATATACATATATATGTGTATA TATATGTATATACATATATATGTGTATATATATGTATATACATATATATG TGTATATATATGTATATACATATATATATGTGTATATATATGTATATACA TATATATATGTGTATATATATGTATATACATATATATGTGTATATATATG TATATACATATATATATGTGTATATATATGTATATACATATATATATGTG TATATATATGTATATACATATATATATGTGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19062.hp2 NA19070.hp2 others(1): Show HG02523.hp1 NA19062.hp2 NA19070.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0041 a0001c0001t0001 a0001c0001t0002 a0001c0001t0041	a0001c0001t0001g0090 a0001c0001t0001g0147 a0001c0001t0002g0149 others(1): Show a0001c0001t0001g0090 a0001c0001t0001g0147 a0001c0001t0002g0149 a0001c0001t0041g0108	4	52	0.0769	296	c.125 others(315): Show c.125-88284_125-88283insGTATATACATATATATACACATATAT ATATGTATATACATATATATACACATATATATATGTATATACATATATAT ACACATATATATATGTATATACATATATATACACATATATATGTATATAC ATATATATACACATATATATATGTATATACATATATATACACATATATAT ATGTATATACATATATATACACATATATATGTATATACATATATATACAC ATATATATGTATATACATATATATACACATATATATGTATATACATATAT ATACACATATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALY_chr10_133319072_133341896	133334411	A A	ATCTGAGG others(289): Show ATCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCT CTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTG AGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGAAGGACATGAGG GAGAAGGATCTGAAAGGCGAAGGATCTGACGGGGGAAGGATCTGAGCGGG GAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAGGCTCTGAGGGGGAAGG ACATGAGGGGAAGGATCTGAGGGGCGAAGGATCTGAGCGGGGAAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01081.hp1 others(23): Show HG00280.hp2 HG00738.hp1 HG01081.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02129.hp1 HG02148.hp1 HG02717.hp1 HG03017.hp2 HG03239.hp1 HG03654.hp1 HG03831.hp2 NA18747.hp2 NA18945.hp2 NA18964.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18995.hp2 NA18998.hp1 NA19010.hp2 NA19065.hp1 NA19067.hp1 NA19086.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0046 a0001c0001t0002g0003 a0001c0001t0002g0013 others(14): Show a0001c0001t0001g0046 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0003g0053 a0001c0001t0006g0021	26	246	0.1057	296	c.-21 others(313): Show c.-21+2422_-21+2423insGCCTTCCCCGCTCAGATCCTTCGCCCCT CAGATCCTTCCCCTCATGTCCTTCCCCCTCAGAGCCTCCCCTTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCGTCAGATCCTT CGCCTTTCAGATCCTTCTCCCTCATGTCCTTCCCCCTCAGAGCCTTCCCC CCTCAGAGCCTTCCCCGCTCAGATCCTTCGCCCCTCAGATCCTTCCCCCT CATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCA GATCCTTCCCCCCTCAGA	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623387	T T	TTCTTTCC others(289): Show TTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCCTTCCTCCCTCCCTTCTTT CCTTCCTTCCTCCCTCCCTCTCTCCCTCCCTCCTTCCTCCCTTCCTTCTT TCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTTCTTTCCCTC CTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTCCCT CCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCC CTCCCTCCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02717.hp2 others(1): Show HG01891.hp1 HG02622.hp1 HG02717.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0056 a0001c0001t0104 a0001c0002t0044 others(1): Show a0001c0001t0056 a0001c0001t0104 a0001c0002t0044 a0001c0002t0065	a0001c0001t0056g0154 a0001c0001t0104g0089 a0001c0002t0044g0112 others(1): Show a0001c0001t0056g0154 a0001c0001t0104g0089 a0001c0002t0044g0112 a0001c0002t0065g0140	4	178	0.0225	296	c.225 others(315): Show c.225-43349_225-43348insTCTTTCCTTCCTCCCTCCCTCCGTCC CTCCCTTCCTCCCTCCCTTCTTTCCTTCCTTCCTCCCTCCCTCTCTCCCT CCCTCCTTCCTCCCTTCCTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCC TCCCTCCCTCCCTTCTTTCCCTCCTCCCTCCCTCTCTCCCTCCCTCCCTT CCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTCCC TCCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTC CCTCCCTCCCTTCCTCCCTC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10			chr10	TogoVar
CAPN11_chr6_44153820_44189401	44181785	A A	ACACACAC others(289): Show ACACACACACACACACATACAGACACAACCACACCACACACACACACACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACATACA GACACAACCACACCACACTCACACACACACACACAGACACAACCACACCA CACTCACACACACACACACTCACATACAGACACAACCACACCACACACAC ACACACAGACACAACCACACCACACACACACCCAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	435	0.0023	296	c.193 others(313): Show c.1938+475_1938+476insCACACATACAGACACAACCACACCACAC ACACACACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACATACAGACACAACCACACCACACTCACACACACACACACAGACA CAACCACACCACACTCACACACACACACACTCACATACAGACACAACCAC ACCACACACACACACACAGACACAACCACACCACACACACACCCAACCAC ACCACACTCACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(289): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCG GTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTCCCGGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	57	0.0175	296	c.206 others(313): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTC CCGGTCGGTGAGGGTCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC77_chr12_396644_447642	421156	A A	AAACACAC others(289): Show AAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCA TGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AATACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATG TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	429	0.0023	296	c.413 others(313): Show c.413+2522_413+2523insCACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(289): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01261.hp2 HG04184.hp2 others(4): Show HG00673.hp1 HG01261.hp2 HG04184.hp2 NA19057.hp2 NA19078.hp2 NA19079.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0097 a0001c0001t0003g0108 a0001c0002t0001g0074 others(3): Show a0001c0001t0001g0097 a0001c0001t0003g0108 a0001c0002t0001g0074 a0001c0002t0003g0039 a0001c0002t0003g0107 a0001c0002t0003g0116	7	351	0.0199	296	c.626 others(311): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(289): Show AAAAAATATATATATATATATATATATATATATATATACACACTCATATA TATATATATATATACTCATATATATATATATATATACTCATATATATATA TATATACTCATATATATATATATACTCATATATATATATATACTCATATA TATATATATACTCATATATATATATACTCATATATATATATATACTCATA TATATATATATATACACTCATATATATATATATACACTCATATATATATA TATATATACTCATATATATATATATATATACTCATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0012 a0002c0003t0006g0012	1	218	0.0046	296	c.232 others(317): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATACACACTCATATATATATATATATATACTCATATATATA TATATATATACTCATATATATATATATATACTCATATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATATATACACTCATATATA TATATATACACTCATATATATATATATATATACTCATATATATATATATA TATACTCATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(289): Show AAAAAATATATATATATATATATATATATATATATATACACACTCATATA TATATATATATATATACTCATATATATATATATATATACTCATATATATA TATATATACTCATATATATATATATACTCATATATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATATACACTCATATATATATATATACACTCATATATATA TATATATACTCATATATATATATATATATACTCATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0016 a0002c0003t0006g0016	1	218	0.0046	296	c.232 others(317): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATACACACTCATATATATATATATATATATACTCATATATA TATATATATATACTCATATATATATATATATACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATACTCATATATATA TATACTCATATATATATATACTCATATATATATATATATACACTCATATA TATATATATACACTCATATATATATATATATACTCATATATATATATATA TATACTCATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(289): Show TATATATATATATATATATATATATATATACACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATATACTCATATATA TATATACTCATATATATATATATATACTCATATATATATATACTCATATA TATATATATACTCATATATATATATACTCATATATATATATACTCATATA TATATATATACTCATATATATATATATACTCATATATATATATACTCATA TATATATATATATATATATACTCATATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0133 a0002c0002t0003g0133	1	290	0.0034	296	c.232 others(317): Show c.2326-11590_2326-11589insTATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATACTCATA TATATATATACTCATATATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATATATATATACTCATATATATATATATATATATACT CATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(289): Show TATATATATATATATATATATATATATATACACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATATATACTCATATA TATATATACTCATATATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATACTCATATA TATATATATACTCATATATATATATATACTCATATATATATATACTCATA TATATATATATATATATACTCATATATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0109 a0002c0002t0003g0109	1	290	0.0034	296	c.232 others(317): Show c.2326-11590_2326-11589insTATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATACTCA TATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATATATATACTCATATATATATATATATATATATACT CATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(289): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATG TGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACA CATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	296	c.27 others(307): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGT ATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGT GTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(289): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	296	c.27 others(307): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(289): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19002.hp2 NA18967.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	9	0.2222	296	c.217 others(311): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGCGCT GCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(289): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCTTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	8	0.1250	296	c.217 others(311): Show c.2176-73_2176-72insCCGGCCCCTTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGCGCT GCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795610	C C	CCCCCGGC others(289): Show CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCTCCC CGCCCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18946.hp1 NA18975.hp1 NA18747.hp1 NA18946.hp1 NA18975.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0035 a0010c0010t0001g0105 a0010c0010t0001g0035 a0010c0010t0001g0105	3	422	0.0071	296	c.217 others(311): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCTCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGCGCT GCCCGTGTGGCTGTCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC5A_chr7_141922357_141951974	141947300	T T	TAAGAAAT others(289): Show TAAGAAATCCAGTTCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATAGCGTGAACCCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0077 a0001c0001t0016g0077	1	384	0.0026	296	c.-51 others(305): Show c.-515_-514insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGGTTCACGCTAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGAAC TGGATTTCTT	CLEC5A	ENSG00000258227.7	transcript	ENST00000546910.6	protein_coding		327		chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124811981	A A	AAATTTAT others(289): Show AAATTTATATTTATATATTATATAATATATAATTTATATTTATATATTAT ATAATATATAATTTATATTTATATATTATATAATATATATTTATATTATA TATTATATAATATATAATTTATATTTATATATTATATAATATATAATTTA TATATATATTATATAATATATAATTTATATTATATATTATATAATATATT TTATATTTGTATATTATATAATATATAATATATATTATATATTATATATA TAATTTATATTATATATATAATATATAATATATATTATATATTATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	54	0.0185	296	c.321 others(317): Show c.3217+13749_3217+13750insTTTATATTATATATTATATAATAT ATAATTTATATTTATATATTATATAATATATAATTTATATATATATTATA TAATATATAATTTATATTATATATTATATAATATATTTTATATTTGTATA TTATATAATATATAATATATATTATATATTATATATATAATTTATATTAT ATATATAATATATAATATATATTATATATTATATAATTTATATTTATATA TTATATAATATATAATTTATATTTATATATTATATAATATATAATTTATA TTTATATATTATATAATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL21A1_chr6_56051590_56252580	56097834	T T	TATATAAA others(289): Show TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATATATAAATATATATAAATATATATA TAAATATAAATATATATATAAATATATATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0090 a0006c0011t0004g0090	1	261	0.0038	296	c.181 others(315): Show c.1812+3637_1812+3638insTTATATATATATATTTATATATATAT TTATATATATATTTATATTTATATATATATTTATATATATTTATATATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098658	T T	TATATATA others(289): Show TATATATAAATACATATGTAAATATATAAATATATATAAATATATAAATA TATATAGATATATATGTAAATATATATAAATATATATAGATATATATAAA TATATATAAATATATAGATATATATAAATATATATAAATATATAGATATA TATAAATATACATATATAAATATATAGATATATATAAATATATATATAAA TATATAAATATATATATATATATATAAATATATATAAATATATATAAATA TATAAATATATAAATATATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	247	0.0040	296	c.181 others(315): Show c.1812+2813_1812+2814insTTATATATATTTATATATATATTTAT ATATATATTTATATATTTATATATTTATATATATTTATATATATTTATAT ATATATATATATATTTATATATTTATATATATATTTATATATATCTATAT ATTTATATATGTATATTTATATATATCTATATATTTATATATATTTATAT ATATCTATATATTTATATATATTTATATATATCTATATATATTTATATAT ATTTACATATATATCTATATATATTTATATATTTATATATATTTATATAT TTACATATGTATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A2_chr13_110302284_110518209	110355614	G G	GGGGGAGG others(289): Show GGGGGAGGGCAGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACTTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGG GGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGC TCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0294 a0002c0006t0001g0294	1	369	0.0027	296	c.100 others(313): Show c.100-1849_100-1848insAGTACCAGCTCACCTGTGTGTGTGGGGG AGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCACTAGCTCA CCTGTGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGA GGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCAC CTGTGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAG GGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACC TGTGTGTGTGGGGAGGGC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481803	T T	TGCTGGAG others(289): Show TGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCT GTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGAC ACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTT GCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0120 a0002c0120	a0002c0120t0007 a0002c0120t0007	a0002c0120t0007g0029 a0002c0120t0007g0029	1	239	0.0042	296	c.275 others(313): Show c.2759-713_2759-712insGCTGGAGACACACAGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGAC ACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGT GCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTG TCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACA CACTGTTCTGTCCCTCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481818	T T	TGTTCTGT others(289): Show TGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCC TCCGTTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGA GACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTC CGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0116 a0003c0116	a0003c0116t0022 a0003c0116t0022	a0003c0116t0022g0367 a0003c0116t0022g0367	1	369	0.0027	296	c.275 others(313): Show c.2759-697_2759-696insTTCTGTCCCTCCGTGCTGGAGACACACA GTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTG GAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCC TCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTG TTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481818	T T	TGTTCTGT others(289): Show TGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCC TCCGTTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGA GACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTC CGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0002 a0007c0031t0002	a0007c0031t0002g0364 a0007c0031t0002g0364	1	369	0.0027	296	c.275 others(313): Show c.2759-697_2759-696insTTCTGTCCCTCCGTGCTGGAGACACACA GTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTG GAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCC TCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTG TTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCC GTTGCTGGAGACACACAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CREB3L2_chr7_137869979_138007086	137946950	A A	ATATATAT others(289): Show ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTATATATATATAGTTATATATATAGTTATATATATATAGTTATATATAT AGTTATATATATATAGTTATATATATAGTTATATATATATAGTTATATAT ATAGTTATATATATATAGTTATATATATAGTTATATATATATAGTTATAT ATATAGTTATATATATATAGTTATATATATAGTTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 NA19240.hp1 HG02647.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0016 a0001c0001t0020	a0001c0001t0016g0086 a0001c0001t0020g0140 a0001c0001t0020g0278 a0001c0001t0016g0086 a0001c0001t0020g0140 a0001c0001t0020g0278	3	283	0.0106	296	c.103 others(315): Show c.103-18585_103-18584insACTATATATATATAACTATATATATA ACTATATATATATAACTATATATATAACTATATATATATAACTATATATA TAACTATATATATATAACTATATATATAACTATATATATATAACTATATA TATAACTATATATATATAACTATATATATAACTATATATATATAACTATA TATATAACTATATATATATAACTATATATATAACTATATATATATAACTA TATATATAACTATATATATATAACTATATATATAACTATATATATATAAC TATATATATAACTATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CROCC2_chr2_240901336_240998311	240923627	G G	GCCCCCAC others(289): Show GCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAAC CCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTA ACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACAC TGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCC ACACTAACCCAGCCCCCACACTGACCCAGCCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG02056.hp1 others(1): Show HG00609.hp2 HG00673.hp1 HG02056.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0068 a0001c0001 a0002c0002 a0002c0068	a0001c0001t0003 a0002c0002t0002 a0002c0068t0001 a0001c0001t0003 a0002c0002t0002 a0002c0068t0001	a0001c0001t0003g0222 a0002c0002t0002g0244 a0002c0002t0002g0308 others(1): Show a0001c0001t0003g0222 a0002c0002t0002g0244 a0002c0002t0002g0308 a0002c0068t0001g0118	4	298	0.0134	296	c.488 others(311): Show c.488+997_488+998insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCCAGC CCCCACACTAACCCAGCCCCCACACTGACCCAGCCCCCACACTAACCCAG CCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924045	T T	TCCCCACA others(289): Show TCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCTCACACTAACCCAGCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCC ACACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCTAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	230	0.0043	296	c.488 others(313): Show c.488+1409_488+1410insAACCCGGCCCCCACACTAACCCGGTCCC CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCTCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCACAC TAACCCTAACCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924203	C C	CCCCCACA others(289): Show CCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACA CTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0276 a0008c0008t0002g0276	1	337	0.0030	296	c.489 others(313): Show c.489-1517_489-1516insACACTAACCCAGCCCCCACACTAACCCA GTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CACACTAACCCAGTCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(289): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01258.hp2 NA18961.hp2 others(1): Show HG01243.hp2 HG01258.hp2 NA18961.hp2 NA19079.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0002 a0001c0001t0001 a0008c0010t0002	a0001c0001t0001g0138 a0001c0001t0001g0177 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0177 a0001c0001t0001g0185 a0008c0010t0002g0291	4	276	0.0145	296	c.-27 others(317): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(289): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp1 HG01891.hp1 NA19030.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0191 a0009c0015t0001g0192 a0009c0015t0001g0191 a0009c0015t0001g0192	2	274	0.0073	296	c.-27 others(317): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNA3_chr10_65907523_67701195	67153779	C C	CTTTGTAT others(289): Show CTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTA CATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCAT CTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCC CACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCT CATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0046 a0002c0002t0026g0046	1	46	0.0217	296	c.104 others(317): Show c.1047+26537_1047+26538insAAACCAAACACCGCATATTCTCAC TCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAAT ATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCA TTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACC AGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGT ACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATACAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CUL4A_chr13_113204613_113272108	113232039	C C	CCACCACT others(289): Show CCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	382	0.0026	296	c.513 others(313): Show c.513-1110_513-1109insCTGCCACCACTACCCGCCCACCACCATT ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUX2_chr12_111029165_111355554	111325724	T T	TTGTGGTG others(289): Show TTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGT GGGTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGT GTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGG TGGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTG TGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGT GGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0074 a0001c0004t0006g0074	1	97	0.0103	296	c.292 others(315): Show c.2926+3148_2926+3149insGTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGGGGTGGGGGAGG GGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTA TAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGG GTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGT GTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGGG TGGGTTTTGTTTATAGTGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CXorf51A_chrX_146809106_146819744	146812368	C C	CATGTGTA others(289): Show CATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTGTA TATGTGTGTGTATATACATATATGTGTATATACGTATATACACATATATG TGTACATATATGTGTGTATATGTGTGTATATACATATATGTGTATATACA TATATACACATATATATGTGTGTATATGTGTGTGTATATACATATATGTG TATATACGTATATACACATATATGTGTGTATATATGTGTATATATATACA TATATACACATGTGTATATATGTGTATATATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA19064.hp1 NA18977.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	40	0.0500	296	c.18 others(307): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACATGTGTATATATGTATATATATACACATATATACACACATATATGTGT ATATACGTATATACACATATATGTATATACACACACATATACACACATAT ATATGTGTATATATGTATATACACATATATGTATATACACACATATACAC ACATATATGTACACATATATGTGTATATACGTATATACACATATATGTAT ATACACACACATATACACACATATATGTACACATATATATGTGTATATAC GTATATACACAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1737		chrX	TogoVar

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