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
CACNB2_chr10_18135424_18548557	18256295	C C	CACAGACA others(476): Show CACAGACAAGTATACAAGCTCAAAAGCTTTCAATTTCTTGCTGAAGTTGA ACTATTGACCAGGTTATTTTTAGACTCAACAGTCTGGAATTTTTTTTCTA CTTCTTAATAAAACAACAGATATTTTCACATTTAAAAGTTTCAGTAATTC TGCATGTACTGCCAGTTCAATTCTAAACTCTTTGCTGTGTCTAAACTCTT TTGCTGGGACCCAGGTAGTCCCAGCCTGAGTTCCTGATTCTCGTCTCCAT TCTTGCCTTTTCTTTTTTCCCTCTTCCACTCCCCCGCCTCCTCCACAGGC TTGGATCTGTGAATTCATCATTCATTCCAGAAACACTTTGAGGTGCTTTT AAAATCCATGTTTAGGCCGGGCATGGTGGCTCAGGCCTCTAATCCCAGCA CTTTGAGAGGCCAAGGTGGGTAGATTGCACGAGCTCAGGAGTTCAAGACC AGCCTGGGAAACATGGGAAAACCCCATCTCTACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01358.hp2 HG01516.hp2 others(2): Show HG01069.hp2 HG01358.hp2 HG01516.hp2 HG01993.hp2 HG02293.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0009 a0001c0002t0002 a0001c0002t0025 others(2): Show a0001c0001t0009 a0001c0002t0002 a0001c0002t0025 a0002c0003t0027 a0002c0003t0058	a0001c0001t0009g0177 a0001c0002t0002g0112 a0001c0002t0025g0016 others(2): Show a0001c0001t0009g0177 a0001c0002t0002g0112 a0001c0002t0025g0016 a0002c0003t0027g0012 a0002c0003t0058g0053	5	200	0.0250	483	c.213 others(504): Show c.213+105785_213+105786insGAAAACCCCATCTCTACAACAGAC AAGTATACAAGCTCAAAAGCTTTCAATTTCTTGCTGAAGTTGAACTATTG ACCAGGTTATTTTTAGACTCAACAGTCTGGAATTTTTTTTCTACTTCTTA ATAAAACAACAGATATTTTCACATTTAAAAGTTTCAGTAATTCTGCATGT ACTGCCAGTTCAATTCTAAACTCTTTGCTGTGTCTAAACTCTTTTGCTGG GACCCAGGTAGTCCCAGCCTGAGTTCCTGATTCTCGTCTCCATTCTTGCC TTTTCTTTTTTCCCTCTTCCACTCCCCCGCCTCCTCCACAGGCTTGGATC TGTGAATTCATCATTCATTCCAGAAACACTTTGAGGTGCTTTTAAAATCC ATGTTTAGGCCGGGCATGGTGGCTCAGGCCTCTAATCCCAGCACTTTGAG AGGCCAAGGTGGGTAGATTGCACGAGCTCAGGAGTTCAAGACCAGCCTGG GAAACATGG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(476): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	322	0.0031	483	c.193 others(500): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACATACACAGTCACATACAGACACAACCACACCACAC TCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(476): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGTCG TCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCTCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0180 a0001c0073t0002g0180	1	356	0.0028	483	c.-22 others(500): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCG TCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(476): Show TGCCCCTCACCCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTC TCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCC CTCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCC CCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCTCGCCCCTCGCCCCT CCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCCC TCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCACC CTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACACCCTGC GCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCC TCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCCTCCGCCCCTCACC CCTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0159 a0001c0003t0001g0159	1	241	0.0041	483	c.326 others(500): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGGTGAGGGGCGGAGGGATGAGAGGCGGA GGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTG AGGGGCGCAGGGTGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAG GCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAG GGGTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGG GGGCGGAGGGGCGAGGGGCGAGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAG GGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGGTGA GGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(476): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCC CTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCAC CCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGC GCCCCTCACCCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCC CTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACC CCTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	241	0.0041	483	c.326 others(500): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGGTG AGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGG CGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGG GGTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGG GGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAG GGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGG GGCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGA GGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGA GGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(476): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCC CTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCAC CCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGC GCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCCTCCGCCC CTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACC CCTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	241	0.0041	483	c.326 others(500): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTG AGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGG CGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGG GGTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGG GGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAG GGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGG GGCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGA GGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGA GGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(476): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCC CTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCCACCCCTCCGCCCCTCA CCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTG CGCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCC CTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACC CCTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0238 a0001c0003t0001g0238	1	241	0.0041	483	c.326 others(500): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGGCGGAGGGGTGGGGGGCGGAGG GGTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGG GGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAG GGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGG GGCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGA GGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGA GGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(476): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCC CTCACCCCTCCGCCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCA CCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTG CGCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCC CTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACC CCTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	241	0.0041	483	c.326 others(500): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGGCGGAGG GGTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGG GGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAG GGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGG GGCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGA GGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGA GGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909387	C C	CCCCTCCG others(476): Show CCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCC GCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCT CACCTTCCGCCCCCACCCTCCGCCTCTCATCCCTCCACCCCTCGCCCCTC CGCCCCCACCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGCGCCCC TCACCTTCCGCCTCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCC CTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGC CCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCA TCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCT CCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCC CCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0099 a0001c0012t0002g0099	1	317	0.0032	483	c.326 others(500): Show c.3260+662_3260+663insTGAGGGGCGGAGGGGTGGGGGGCGGAGG GGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAG GGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCG GAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGG TGGGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAGGG GCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGGA AGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGGTG GGGGCGGAGGGGCGAGGGGTGGAGGGATGAGAGGCGGAGGGTGGGGGCGG AAGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGGGCGGAGGGGCG AGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCG GAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88975179	C C	CCTGCAGC others(476): Show CCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACCTGCAG CCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTCACCTGCAGCCATATC AAAGGGCCACCCTGACCCTCTCTGCTCCACATCTTTAGCCATGTCAGAGG TCCACCCTGGCCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGATCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGA CCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTC TGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTC CTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTGACCT CCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGC CATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	230	0.0043	483	c.151 others(500): Show c.151+1477_151+1478insCAGGAGCAGAGGGCCAGGGTGGACCTCT GACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACAT GGCTGGAGGTCAGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCA GGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGGAGGTCA GGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAG AGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGG ATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGCCAG GGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGGTGG CCCTTTGATATGGCTGCAGGTGAGGAGCAGAGGGCCAGGGTGGACCTCTG ACATGGCTGCAGGTCAGGAGCAGAGGGCCAGGGTGGACCTCTGACATGGC TGCAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(476): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCTCCCCCT CCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	12	0.0833	483	c.-45 others(504): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTCCCCCCCTCCCCCCTCCC CTCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(476): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	12	0.0833	483	c.-45 others(504): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(476): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0018 a0001c0004t0010g0019 a0001c0004t0010g0018 a0001c0004t0010g0019	2	3	0.6667	483	c.75- others(500): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCTTCCCCACTTCCCCCTT CTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCTTCCCCTTCCC ACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCCACTCCCCCCT TCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCCCTTCTCCCTC TTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGTCTTCCCCTCT CCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACTCCCCACTCCC TCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCTCCCCACTCCC TCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCCG CACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCCCC CCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888435	G G	GCACCCCT others(476): Show GCACCCCTGCCACCTGCACCCCGCCACCTTCACCCCTGCCGCCTGCACCC CTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCTGC CTGCACCCCGCCACCTTCACCCCTGCCACCTGCACCCCTGCCACCTTCAC ACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTG CCGCCTTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCC TGCACCCCTGCCACCTTCACCCCTGCCACCTGCACCTGCCACCTTCACCC CTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTTCACCCCTGCC GCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCTGCCACCTGCA CCCCTGCCGCCTGCACCCCTGCCGCCTGCACCTGCCACCTGCACCCCTGC CGCCTGCACCCCTGCCGCCTGCACCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	223	0.0045	483	c.330 others(502): Show c.3305-2477_3305-2476insAAGGTGGCAGGTGCAGGCGGCAGGGG TGCAGGCGGCAGGGGTGCAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGC GGCAGGGGTGCAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGG GTGAAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAA GGCGGCAGGGGTGAAGGTGGCAGGTGCAGGTGGCAGGGGTGAAGGTGGCA GGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGT GAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGG TGGCAGGTGTGAAGGTGGCAGGGGTGCAGGTGGCAGGGGTGAAGGTGGCG GGGTGCAGGCAGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAA GGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCGGGGTGCAGGTGGC AGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(476): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTT ATTTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	92	0.0109	483	c.80- others(498): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTT TATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAA ATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(476): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTT ATTTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0124 a0001c0001t0006g0124	1	92	0.0109	483	c.80- others(498): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTT TATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAA ATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(476): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCTCTTCC TCCTCCTCCCCCTCTTCCTCCCCCTCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCC CCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0047 a0001c0005t0047	a0001c0005t0047g0187 a0001c0005t0047g0187	1	2	0.5000	483	c.162 others(504): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(476): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCC TCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0020 a0001c0001t0012g0020	1	2	0.5000	483	c.162 others(504): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCC CTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
DCDC2C_chr2_3698575_3853008	3725426	T T	TGGATCCC others(476): Show TGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAG GGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATG AGCAGAGAGTGATGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGGGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCAGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	322	0.0031	483	c.340 others(500): Show c.340-1570_340-1569insGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGAT CCCGGAGGGAGATGAGCAGAGAGTGATGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGGGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC CAGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGGGG ATCCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725566	A A	AGAGGAAG others(476): Show AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGG AGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAG CAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0239 a0002c0003t0011g0239	1	218	0.0046	483	c.340 others(500): Show c.340-1405_340-1404insCGGTGGATCCTGGAGGGAGACCGCCAGA GTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAG GAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(476): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA CTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCAC CACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCA CCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACC ACTACCACTACTATAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0066 a0001c0003t0002g0066	1	45	0.0222	483	c.724 others(502): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGT TATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGT GGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGA TGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTT ATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGT GGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGG TGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATG GTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCCACACC others(476): Show CCCACACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACACACCCCC CACACCACACATCCCCCTCACACCCCCCAACACCCCCACACCCCCCCACA CCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCA CACCCCCCACATCCCCACACCCCCATCCCCCACACTCCCCACACCCCCCA CACCCCCCACATCCCCACACCCCCCACACCCCCCACACCCCCATACCCCC CACACCCCCAACACCCCCCACATCCCCACACACCACAAATCCTCCACACC CCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCCCCATCTC CCCACACCCCCCACACCCCCATACCCCCCACACACCCCACACCCCCCACA TCCCCACACACCACAAATCCTCCACACCCCCACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	81	0.0123	483	c.207 others(502): Show c.2073+1469_2073+1470insCACACATCCCTCACACCCCCCAACAC CCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAC ATCCCCCACACACCCCCCACACCACACATCCCCCTCACACCCCCCAACAC CCCCACACCCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACA CCCCCCACATCTCCCCACACCCCCCACATCCCCACACCCCCATCCCCCAC ACTCCCCACACCCCCCACACCCCCCACATCCCCACACCCCCCACACCCCC CACACCCCCATACCCCCCACACCCCCAACACCCCCCACATCCCCACACAC CACAAATCCTCCACACCCCCACACCACACATCCCCCACACCCCCCACACC CCCCACACCCCCATCTCCCCACACCCCCCACACCCCCATACCCCCCACAC ACCCCACACCCCCCACATCCCCACACACCACAAATCCTCCACACCCCCAC ACCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGAAGA others(476): Show GGAGAAGAAGGGAGAAGAAGGGAGTGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAGAAGAAGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAAGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAG AGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGG CGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGG CGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAG AGGGGCGGGGCGGGGCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAG GGGCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGACGGGG AGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	57	0.0175	483	c.158 others(500): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCTCCCCTCCCCGT CTGCCCCTCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCGCCCC GCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCC TCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC GCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCC GCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCTTCTCCCTTCTTCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCACTCCCTTCTTCTCCCTTC TTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	600470	T T	TTCCACCT others(476): Show TTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGACC CCACAGCCCTGTCCACCTTAAAGACGACGGCCCAGGGTGTGCGGATGCTC CGGAGCGACCCCACAGCCCTGTCCACCTTAAAGACGACGGCCCAGGGTGT TCGGATGCTCCGGAGCGACCCCACAGCCCTGTCCACCTTAAAGACGACGG CCCAGGGTGTTCGGATGCTCCGGAGCGACCCCACAGCCCTTTCCACCTTA AAGACGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGACCCCACAAGCCC TGTCCACCTTAAAGAGGACGGCCCAGGGTGTGTGGATGCTCCGGAGCGAC CCCACAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTTCGGATGC TCCGGAGCGACCCCACAGCCCCGTCCACCTTAAAGAGGACGGCCCAGGGT GTGCGGATGCTCCGGAGCGACCCCACAAGCCCTG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	84	0.0119	483	c.85+ others(500): Show c.85+89023_85+89024insCAGGGCTTGTGGGGTCGCTCCGGAGCAT CCGCACACCCTGGGCCGTCCTCTTTAAGGTGGACGGGGCTGTGGGGTCGC TCCGGAGCATCCGAACACCCTGGGCCGTCCTCTTTAAGGTGGACAGGGCT TGTGGGGTCGCTCCGGAGCATCCACACACCCTGGGCCGTCCTCTTTAAGG TGGACAGGGCTTGTGGGGTCGCTCCGGAGCATCCGCACACCCTGGGCCGT CGTCTTTAAGGTGGAAAGGGCTGTGGGGTCGCTCCGGAGCATCCGAACAC CCTGGGCCGTCGTCTTTAAGGTGGACAGGGCTGTGGGGTCGCTCCGGAGC ATCCGAACACCCTGGGCCGTCGTCTTTAAGGTGGACAGGGCTGTGGGGTC GCTCCGGAGCATCCGCACACCCTGGGCCGTCGTCTTTAAGGTGGACAGGG CTGTGGGGTCGCTCCGGAGCATCCGCACACCCTGGGCCGTCCTCTTTAAG GTGGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608555	C C	CCCCCCAC others(476): Show CCCCCCACACACACACACCCCCCCCCCACACACACACCCCCCCCCACACA CACACCCCCCCCACACACACACCCCCCCCACACACACACACCCCCCACAC ACACACACCCCCCCACACACACACACACACCCCCCCCCACACACACACAC CCCCCCCCACACACACACCCCCCCCACACACACACACATCCCCCCCACAC ACACACACCCCCCCCCACACACACACACATCCCCCCCCACACACACACAC ATCCCCCCCCACACACACACACATCCCCCCCCACACACACACACATCCCC CCCCACACACACACACATCCCCCCCCACACACACACATCCCCCCCCACAC ACACACATCCCCCCCCACACACACACATCCCCCCCCCCACACACACATCC CCCCCCCCACACACACACATCCCCCCCCACACACACACACATCCCCCCCC ACACACACACATCCCCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	54	0.0185	483	c.85+ others(500): Show c.85+80938_85+80939insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGG GGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGTGGGGGGGGAT GTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGG GGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGGT GTGTGTGTGTGGGGGGGATGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGG GGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGTGGGGGGGT GTGTGTGTGTGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGG GGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGT GGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAJC5_chr20_63890126_63941011	63913074	C C	CGTCTCCA others(476): Show CGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCT GCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTC CTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTC CCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTC CCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTC CCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACT GCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCT CCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACC GTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCT CCATCTCCCCATCTGCACCGTCTCTCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0295 a0001c0001t0025g0295	1	214	0.0047	483	c.-11 others(502): Show c.-11-15237_-11-15236insCCTCTCCTGCTCCATCTCCCCATCTG CACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCC TGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCC CTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCC CTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCC CCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTG CCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTC CATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCG TCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTC CATCTCCCCATCTGCACCGTCTCTCCCTGCCCAGTCTCCATCTCCCTGTC TGCACTG	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CTCCCTGC others(476): Show CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	219	0.0046	483	c.-10 others(502): Show c.-107+5489_-107+5490insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC CGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619474	C C	CCTGCAGC others(476): Show CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	210	0.0048	483	c.-10 others(502): Show c.-107+5762_-107+5763insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCATGCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGT CTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(476): Show AGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGAG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0269 a0001c0003t0008g0269	1	216	0.0046	483	c.190 others(502): Show c.1909+7092_1909+7093insAGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(476): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGG TGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0090 a0003c0002t0001g0090	1	230	0.0043	483	c.190 others(502): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERFL_chr19_41902704_41933449	41923675	T T	TGTGTCTG others(476): Show TGTGTCTGGGGAGGCAGGGGTGTGCTGGGAGGGGGCTGTGCTGGGGGGGT GTCTGGGGAGGCGGAGGTGTGCTGGGACGGGGCTGTGCTGGGGGTGTGTC TGGGGAGGTGGGGGTGGATCTGGGGAGGCGGGGGTGTGTTGGGAGGGAGC TGTGCTGGGGGGGTGTCTGGGGAGGCAGGGGTGTGCTGGGAGGGGGCTGT GCTGGGGGGGTGTCTGGGGAGGCGGAGGTGTGCTGGGACGGGGCTGTGCT GGGGGTGTGTCTGGGGAGGTGGGGGTGGATCTGGGGAGGCGGGGGTGTGT TGGGAGGGAGCTGTGCTGGGGGGGTGTCTGGGGAGGCAGGGGTGTGCTGG GAGGGGGCTGTGCTGGGGGGGTGTCTGGGGAGGCGGAGGTGTGCTGGGAC GGGGCTGTGCTGGGGGTGTGTCTGGGGAGGTGGGGGTGGATCTGGGGAGG CGGGGGTGTGTTGGGAGGGAGCTGTGCTGGGGGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	328	0.0030	483	c.-14 others(500): Show c.-14+4364_-14+4365insCCCCCCAGCACAGCTCCCTCCCAACACA CCCCCGCCTCCCCAGATCCACCCCCACCTCCCCAGACACACCCCCAGCAC AGCCCCGTCCCAGCACACCTCCGCCTCCCCAGACACCCCCCCAGCACAGC CCCCTCCCAGCACACCCCTGCCTCCCCAGACACCCCCCCAGCACAGCTCC CTCCCAACACACCCCCGCCTCCCCAGATCCACCCCCACCTCCCCAGACAC ACCCCCAGCACAGCCCCGTCCCAGCACACCTCCGCCTCCCCAGACACCCC CCCAGCACAGCCCCCTCCCAGCACACCCCTGCCTCCCCAGACACCCCCCC AGCACAGCTCCCTCCCAACACACCCCCGCCTCCCCAGATCCACCCCCACC TCCCCAGACACACCCCCAGCACAGCCCCGTCCCAGCACACCTCCGCCTCC CCAGACACCCCCCCAGCACAGCCCCCTCCCAGCACACCCCTGCCTCCCCA GACAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282544	A A	AAGGGAGG others(476): Show AAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAG GGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGA GAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGT GAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGG AGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGG AAGGGAGGGGGTATTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGG GGAGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAA GGGGAGGAGGAGGAGTGTAGGGTGGTGGGAGGGTGTGAGGGATGGAGGGT GGGGAGGTGGAGGGAAGTAGGGAGGGGGTGGGTGGGGAAGGTGTGAGGGG AGGGGGTGGGGGGTGGTGGGAGGTGGAGGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	252	0.0040	483	c.37 others(494): Show c.3767_*3768insAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGA GAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGG AGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGT GAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAG AGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGGAAGAGAGTGGGAA GGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGG GGAGAAGGGTGGGAAGGGGAGGAGGAGGAGTGTAGGGTGGTGGGAGGGTG TGAGGGATGGAGGGTGGGGAGGTGGAGGGAAGTAGGGAGGGGGTGGGTGG GGAAGGTGTGAGGGGAGGGGGTGGGGGGTGGTGGGAGGTGGAGGGTGTG	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3317		chr19	TogoVar
FMN2_chr1_240086883_240480187	240184928	A A	ACTTTCTC others(476): Show ACTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTACACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0080 a0002c0023t0001g0080	1	145	0.0069	483	c.193 others(502): Show c.1931-3237_1931-3236insCACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGAGGGG others(476): Show CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCA GTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0224	1	242	0.0041	483	c.157 others(498): Show c.1576+54_1576+55insGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(476): Show CCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACC ACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCAAATACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATC ACCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCAT CACCATCACCACCACCACCACCATCACCATCACCATCATCACCATCACCT CCACCACCACCACCACTATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	380	0.0026	483	c.961 others(500): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCAC CATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCA TCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCA CCACCACTACCACCACCATCACCATCACCACCACCACCACCATCACCATC ACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCATCAC CATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMDS_chr6_1618806_2250605	1905276	G G	GCCTGTGC others(476): Show GCCTGTGCATCTGCATGTGGGGCCAGCACATAGCTGTGGGTGCTGGCGTG TAGGTGGGACCTCAAAGGTACCTGTGCATCTGCATGTGGGGCCAGCACAT AGCTGTGGGTGCTGGCGTGTAGGTGGGACCTCAAAGGTGCCTGTGCATCT GCATGTGGGGCCAGCACATAGCTGTGGGTGCTGGCGTGTAGGTGGGACCT CAAAGGTGCCTGTGCATCTGCATGTGGGGCCAGCACATAGCTGTGGGTGC TGGCGTGTAGGTGGGACCTCAAAGGTACCTGTGCATCTGCATGTGGGGCC AGCACATAGCTGTGGGTGCTGGCGTGTAGGTGGGACCTCAAAGGTGCCTG TGCATCTGCATGTGGGGCCAGCACATAGCTGTGGGTGCTGGCGTGTAGGT GGGACCTCAAAGGTGCCTGTGCATCTGCATGTGGGGCCAGCACATAGCTG TGGGTGCTGGCGTGTAGGTGGGACCTCAAAGGTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	162	0.0062	483	c.771 others(502): Show c.771+24826_771+24827insTACCTTTGAGGTCCCACCTACACGCC AGCACCCACAGCTATGTGCTGGCCCCACATGCAGATGCACAGGCACCTTT GAGGTCCCACCTACACGCCAGCACCCACAGCTATGTGCTGGCCCCACATG CAGATGCACAGGCACCTTTGAGGTCCCACCTACACGCCAGCACCCACAGC TATGTGCTGGCCCCACATGCAGATGCACAGGTACCTTTGAGGTCCCACCT ACACGCCAGCACCCACAGCTATGTGCTGGCCCCACATGCAGATGCACAGG CACCTTTGAGGTCCCACCTACACGCCAGCACCCACAGCTATGTGCTGGCC CCACATGCAGATGCACAGGCACCTTTGAGGTCCCACCTACACGCCAGCAC CCACAGCTATGTGCTGGCCCCACATGCAGATGCACAGGTACCTTTGAGGT CCCACCTACACGCCAGCACCCACAGCTATGTGCTGGCCCCACATGCAGAT GCACAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(476): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCC TCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCT TCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCC CTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTT CCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCT CCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCC CTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCC CCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18906.hp2 HG02145.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0193 a0001c0001t0002g0203	2	103	0.0194	483	c.972 others(498): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCC CTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCC CTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTT CCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCT TCCCCTCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCC CCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTC CCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC CCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(476): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATTTATTTATATATATATAAATATATATATTTATATATAAATATATA TATTTATATTTATTTCTATATATAAATATATATATTTATATATAAATATA TATTTATATATATAAATATATATATTTATATTTATAAATATATATATTTA TATATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0195 a0001c0002t0005g0195	1	133	0.0075	483	c.-97 others(500): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATATTTATATATAAATA TATATATTTATATTTATTTCTATATATAAATATATATATTTATATATAAA TATATATTTATATATATAAATATATATATTTATATTTATAAATATATATA TTTATATATATTTATATTTATATATATTTATATATATTTATATATAAATA TATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(476): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATTTATTTATATATATATAAATATATATTTATATATAAATATATATA TTTATATTTATTTCTATATATAAATATATATATTTATATATATAAATATA TATTTATATATATAAATATATATATTTATATTTATAAATATATATATTTA TATATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG01255.hp1 others(10): Show HG00099.hp2 HG00438.hp2 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp1 HG02523.hp2 HG03139.hp1 HG03225.hp1 NA18522.hp1 NA18981.hp1 NA18994.hp1 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 others(5): Show a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0038 a0001c0003t0040 a0001c0003t0041 a0001c0003t0043 a0001c0003t0044	a0001c0003t0002g0027 a0001c0003t0002g0030 a0001c0003t0002g0031 others(10): Show a0001c0003t0002g0027 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0033 a0001c0003t0002g0038 a0001c0003t0005g0044 a0001c0003t0010g0088 a0001c0003t0010g0125 a0001c0003t0038g0001 a0001c0003t0040g0043 a0001c0003t0041g0001 a0001c0003t0043g0042 a0001c0003t0044g0062	13	145	0.0897	483	c.-97 others(500): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATTTATATATAAATATA TATATTTATATTTATTTCTATATATAAATATATATATTTATATATATAAA TATATATTTATATATATAAATATATATATTTATATTTATAAATATATATA TTTATATATATTTATATTTATATATATTTATATATATTTATATATAAATA TATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(476): Show ATATATATAAATATATATATTTATTTTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATTTATTTATATATATATAAATATATATTTATATATAAATATATATA TTTATATTTATTTCTATATATAAATATATATATTTATATATATAAATATA TATTTATATATATAAATATATATATTTATATTTATAAATATATATATTTA TATATATTGATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0174 a0001c0003t0005g0174	1	133	0.0075	483	c.-97 others(500): Show c.-97-2605_-97-2604insATTTATTTTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATTTATATATAAATATA TATATTTATATTTATTTCTATATATAAATATATATATTTATATATATAAA TATATATTTATATATATAAATATATATATTTATATTTATAAATATATATA TTTATATATATTGATATTTATATATATTTATATATATTTATATATAAATA TATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(476): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGC GCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGT GAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGGCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGG CACCCCCACCAAGCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0305 a0002c0002t0011g0305	1	91	0.0110	483	c.251 others(500): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HERC6_chr4_88373852_88448097	88380374	T T	TATATATA others(476): Show TATATATATAATATATAAATATATATAATATATAAATATATATATAATAT ATAAATATATATAATATATAAATATATATATAATATATAAATATATATAA TATATAAATATATATATAATATATAAATATATATAATATATAAATATATA TATAATATATAAATATATATAATATATAAATATATATATAATATATAAAT ATATATAATATATAAATATATATATAATATATAAATATATATAATATATA AATATATATATAATATATAAATATATATAATATATAAATATATATAATAT ATAAATATATATATAATATATAAATTTATATATTTATATAATATATAATA TATAATAAAATAATATATATAATATATATATAAATTATATAATTATATAA TATAATATATATAAAATAATATATATAAAATAATTATATATAATATATAA ATATATATAATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18959.hp1 NA18962.hp1 others(2): Show NA18951.hp2 NA18959.hp1 NA18962.hp1 NA18979.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 others(2): Show a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0138	5	91	0.0549	483	c.199 others(500): Show c.199+1263_199+1264insATATATAAATATATATAATATATAAATA TATATATAATATATAAATATATATAATATATAAATATATATATAATATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATAATA TATAAATATATATATAATATATAAATATATATAATATATAAATATATATA TAATATATAAATATATATAATATATAAATATATATATAATATATAAATAT ATATAATATATAAATATATATATAATATATAAATATATATAATATATAAA TATATATAATATATAAATATATATATAATATATAAATTTATATATTTATA TAATATATAATATATAATAAAATAATATATATAATATATATATAAATTAT ATAATTATATAATATAATATATATAAAATAATATATATAAAATAATTATA TATAATATATAAATATATATAATATATAAATATATATATAATATAAATAT ATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
IFNAR1_chr21_33319970_33364864	33323542	A A	ATATATGG others(476): Show ATATATGGAATATATATATGGAATATATATATGGAATATATATGTGGAAT ATATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATATGTGGAATATATATATGGAATATATATGTGGAATATATATAT ATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATAT ATATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATGTGGAATATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0102 a0003c0003t0009g0102	1	286	0.0035	483	c.-15 others(494): Show c.-1514_-1513insTATATGGAATATATATATGGAATATATATATGGA ATATATATGTGGAATATATATATGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATGGAATATATAT GTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATGTGGAATATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1427		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323542	A A	ATATGGAA others(476): Show ATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAAT ATATATATATGGAATATATATGTGGAATATATATATATGGAATATATATG TGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAATA TATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATGG AATATATATGTGGAATATATATATGGAATATATATGTGGAATATATATAT ATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATAT ATATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATGTGGAATATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0104 a0001c0001t0010g0104	1	286	0.0035	483	c.-15 others(494): Show c.-1514_-1513insTATGGAATATATATGTGGAATATATATATATGGA ATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATA TATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATA TATATATATGGAATATATATGTGGAATATATATATATGGAATATATATGT GGAATATATATATGGAATATATATGTGGAATATATATATGGAATATATAT GTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATGTGGAATATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1427		chr21	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(476): Show CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGT CCCCACACCCCTGTCCCCAGGACCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	13	0.0769	483	c.-79 others(492): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTG GGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TAAATATA others(476): Show TAAATATATAAATATATATAAATATATAAATATAAATATATAAATATATA TAAATATATAAATATATACATATATAAATACATGAATATATAAAATATAT AAATATATAAATATATAAATATATATAAATAAATATATAAATATATACAA ATATATAAATAAATATATAAATATATAAATATAAATATATATTTATAGAT ATATAGATTTTACGTTTAAAATATATATTTTATAGATTTTATATTTAAAA TATATATTTATAGATTTTATATTTAAAAATATATTTTATAGATTTTATAC ATAAAATATAATATATAAAATATATAAATCATATAAAATTTATATTTTAT GTATAAATATAAATGAATATAAAAATATATTATATGTTATATATTATATA TTATTATGTTATATATTATATATTATTATATTATATATATTATAATATGT ATTATATTATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0270 a0001c0001t0006g0270	1	9	0.1111	483	c.-51 others(494): Show c.-5160_-5159insAAATATATAAATATATATAAATATATAAATATAA ATATATAAATATATATAAATATATAAATATATACATATATAAATACATGA ATATATAAAATATATAAATATATAAATATATAAATATATATAAATAAATA TATAAATATATACAAATATATAAATAAATATATAAATATATAAATATAAA TATATATTTATAGATATATAGATTTTACGTTTAAAATATATATTTTATAG ATTTTATATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATT TTATAGATTTTATACATAAAATATAATATATAAAATATATAAATCATATA AAATTTATATTTTATGTATAAATATAAATGAATATAAAAATATATTATAT GTTATATATTATATATTATTATGTTATATATTATATATTATTATATTATA TATATTATAATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TAAATATA others(476): Show TAAATATATAAATATATATAAATATATAAATATAAATATATAAATATATA TAAATATATAAATATATACATATATAAATACATGAATATATAAAATATAT AAATATATAAATATATAAATATATATAAATAAATATATAAATATATACAA ATATATAAATAAATATATAAATATATAAATATAAATATATATTTATAGAT ATATAGATTTTACGTTTAAAATATATATTTTATAGATTTTATATTTAAAA TATATATTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATAC ATAAAATATAATATATAAAATATATAAATCATATAAAATTTATATTTTAT GTATAAATATAAATGAATATAAAAATATATTATATGTTATATATTATATA TTATTATGTTATATATTATATATTATTATATTATATATATTATAATATGT ATTATATTATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA18906.hp2 NA21309.hp1 HG06807.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0031 a0001c0001t0055 a0001c0001t0025 a0001c0001t0031 a0001c0001t0055	a0001c0001t0025g0274 a0001c0001t0031g0154 a0001c0001t0055g0275 a0001c0001t0025g0274 a0001c0001t0031g0154 a0001c0001t0055g0275	3	11	0.2727	483	c.-51 others(494): Show c.-5160_-5159insAAATATATAAATATATATAAATATATAAATATAA ATATATAAATATATATAAATATATAAATATATACATATATAAATACATGA ATATATAAAATATATAAATATATAAATATATAAATATATATAAATAAATA TATAAATATATACAAATATATAAATAAATATATAAATATATAAATATAAA TATATATTTATAGATATATAGATTTTACGTTTAAAATATATATTTTATAG ATTTTATATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATT TTATATATTTTATACATAAAATATAATATATAAAATATATAAATCATATA AAATTTATATTTTATGTATAAATATAAATGAATATAAAAATATATTATAT GTTATATATTATATATTATTATGTTATATATTATATATTATTATATTATA TATATTATAATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(476): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCT CCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	77	0.0130	483	c.-27 others(494): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTATAT others(476): Show ATTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTAT AGTTATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTAT ATATATATTTTTATATATATTTATATTTATATATATATTTTTATATATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATAAATATATATATAAATATATATATTTAT ATATATATTTATATATATATTTATATATTTATATATGTATTTATATATAT TTATATATGTATTTATATATATTTATATATATTTATATGTATTTATATAT ATTTATATATATTTATATATATAAATATAAATATATTTATATATATAAAT ATAAATATATTTATATATATAAATATAAATATATTTATATATAAATATAT TTATATATATTTATATAAATATATTTATGTATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	136	0.0074	483	c.125 others(500): Show c.125+9624_125+9625insTATATATAGTTATATATATTTATGTATA GTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATA TAGTTATATATATAGTTATATATATATTTTTATATATATTTATATTTATA TATATATTTTTATATATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATATTTATATATATAAATATATA TATAAATATATATATTTATATATATATTTATATATATATTTATATATTTA TATATGTATTTATATATATTTATATATGTATTTATATATATTTATATATA TTTATATGTATTTATATATATTTATATATATTTATATATATAAATATAAA TATATTTATATATATAAATATAAATATATTTATATATATAAATATAAATA TATTTATATATAAATATATTTATATATATTTATATAAATATATTTATGTA TATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610449	A A	AGGGTGCG others(476): Show AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGTTGACGGA GCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGG TGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAG CGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp2 HG03017.hp2 others(1): Show HG00735.hp2 HG02486.hp2 HG03017.hp2 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0006 a0001c0001t0004 a0003c0003t0006	a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0124 others(1): Show a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0124 a0003c0003t0006g0153	4	178	0.0225	483	c.717 others(500): Show c.717-2810_717-2809insCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGG TGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGT GAGGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGC GGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

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