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
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(471): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATTCACCCACCCATTTA CCTACCCATTAATTCACCCACCCTTCCACCACCCACCCACCCATCCATAT ACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCCAT TCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATT CACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02886.hp1 HG02615.hp1 HG02630.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0064 a0002c0002t0018 a0002c0002t0064	a0002c0002t0018g0065 a0002c0002t0018g0220 a0002c0002t0064g0064 a0002c0002t0018g0065 a0002c0002t0018g0220 a0002c0002t0064g0064	3	9	0.3333	478	c.775 others(493): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGG GTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTG GAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGG TGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(471): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CACGTATACGTATACACACATATACACGTATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACATATACACGTATATACGTA TACGTGTACACACATATATATACACGTATATATACGTATACGTGTACACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACATACACGTATA TACGTATACGTGTACACACACATACACGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19063.hp1 HG02630.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0022 a0001c0001t0001 a0001c0002t0022	a0001c0001t0001g0019 a0001c0002t0022g0150 a0001c0001t0001g0019 a0001c0002t0022g0150	2	113	0.0177	478	c.48- others(495): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACACGTATACGTATACACACATATACACGTATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATATATACACGTATATATACGTATACGT GTACACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACATAC ACGTATATACGTATACGTGTACACACACATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(471): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACATACACGTATATACGTATACGTGTACACACACATACACGTA TATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACA CGTATACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	63	0.0159	478	c.48- others(495): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACATACACGTATATACGTATACGT GTACACACACATACACGTATATACGTATACGTGTACACACATATACACGT ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(471): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAGG GGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAG GGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGA GGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGA GGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	183	0.0055	478	c.125 others(499): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTCCCCC TCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCTCCTCCCCC CCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCT TCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCT TCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACC TCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCT CCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGGAG others(471): Show GGGGGGAGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGGGG AGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGGGG AAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGGAG AAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAGGAGG GGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAGGGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAG GGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGA GGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGA GGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	183	0.0055	478	c.125 others(499): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTCCTCC CCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTC CCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGC TCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTC CACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCTC CCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(471): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGGTGGGAGGG GAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGG AGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGA GGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAG GGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGG GGGAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	137	0.0073	478	c.248 others(493): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCC CCTCCCACCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGAC TCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC CCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCC TCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(471): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGA GGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAG GGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGG GGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGG GGAGGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	137	0.0073	478	c.248 others(493): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCCTCCC CCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCC CTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCC TCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCT CCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTC CCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGAC TCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC CCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCC TCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(471): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGA GGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAG GGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGG GGAGGGGGAGGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGG GGGAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	137	0.0073	478	c.248 others(493): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCCTCCCCCTCCC CTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCC TCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCT CCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTC CCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGAC TCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC CCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCC TCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(471): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGA GGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAG GGGAGGGGGAGGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAG GGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGG GGGAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	137	0.0073	478	c.248 others(493): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCCTCCCCCTCCCC TCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCT CCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTC CCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGAC TCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC CCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCC TCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(471): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTC ACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTG TCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACA CCCCACCTGTTCACCCGCACTCCACCTGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	328	0.0030	478	c.-48 others(493): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTTCACCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCTCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC TCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCA GCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(471): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTC ACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGT CCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACAC CCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0044 a0002c0024t0044	a0002c0024t0044g0115 a0002c0024t0044g0115	1	321	0.0031	478	c.-48 others(495): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAG CTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGC ACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1919981	T T	TGAGCTGT others(471): Show TGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATGGAGCTGTTC TATGGGTGATGGAGCTGTTCCGTGGGTGATGGAGCTGTTCTGTGGGTGAT GGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTC TGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATG GAGCTGTTCTATGGGTGATGGGGCTGTTCCATGGGTGATGGAGCTGTTCC ATGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATG GAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTG TGGATGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCCATGGGTGATGG AGCTGTTCCATGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTA TGGGTGATGGAGCTGTTCTGTGGGTGATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0031 a0001c0052t0031	a0001c0052t0031g0093 a0001c0052t0031g0093	1	362	0.0028	478	c.214 others(497): Show c.2144-2830_2144-2829insGGTGATGAGCTGTTCTGTCAGTGATG GAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCC ATGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCTGTGGGTGATG GAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGAGCTGTTCTG TCAGTGATGGAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGG GGCTGTTCCATGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCTG TGGGTGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTGTGGGTGATGG AGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATGATGGAGCTGTTCTA TGGGTGATGGAGCTGTTCCGTGGGTGATGGAGCTGTTCTGTGGGTGATGG AGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTG TG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049359	A A	AGGGGGAA others(471): Show AGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAC ACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGG GCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGG AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGG GGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAG GGGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACA TGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCA GAGGGGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAA CACATGGGGGGCAGAGGGGGAACACATGGAGGGCAGAGGAGAACACATGG GGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01358.hp1 HG02738.hp2 HG01071.hp1 HG01358.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183	3	291	0.0103	478	c.53 others(489): Show c.5371_*5372insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTCCTCTGCCCTCCATGTGTTCCCCCTCTGCCCCCCATGTGTTCTC CTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCC CCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCCATGTGT TCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTG CCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCT CTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCTCC ATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCC CCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2744		chr8	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(471): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGGGGCTGGCCGGGCAG AGTGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACCCTCAC CTCCCGGACCGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTGCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTC CCTCCCGGACGAGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0089 a0001c0017t0002g0089	1	13	0.0769	478	c.204 others(499): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCTCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTC CGGGAGGCAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCGGTCC GGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCACTCTGCCCGGCCAGCCCCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(471): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGGGGCTGGCCGGGCAG AGTGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTGCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTC CCTCCCGGACGAGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03239.hp1 HG01081.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0008 a0001c0001t0004 a0001c0002t0008	a0001c0001t0004g0059 a0001c0002t0008g0024 a0001c0001t0004g0059 a0001c0002t0008g0024	2	14	0.1429	478	c.204 others(499): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCTCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTC CGGGAGGCAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCACTCTGCCCGGCCAGCCCCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ATP11A_chr13_112685038_112892168	112787108	C C	CGGGTGTC others(471): Show CGGGTGTCCTGATGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCA GTGTCCTAATGTGTAGACCCCTGTGGAGACCTACTTAATTCACACCAGGT GTCCTGATGTGTAGACCCCTGTGGAGACCTACTTAATTCACACCGGGTGT CCTGATGCGTAGACTCCTGTGGATACCTACTTAATTCACACCGGTGTCCT GATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCGGGTGTCCTGA TGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCGGGTGTCCTGATG CGTAGACCCCTGTGGAGACCTACTTAATTCACACCAAGTGTCCTGATGCG TAGACCCCTGTGGAGACCTACTTAATCCACACCGGTGTCCTGATGCGTAG ACCCCTGTGGAGACCTACTTAATCCACACCGGGTGTCCTGATGCGTAGAC TCCTGTGGAGACCTACTTAATCCACACCG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0252 a0001c0002t0012g0252	1	240	0.0042	478	c.162 others(495): Show c.162+1853_162+1854insGTGTCCTGATGCGTAGACTCCTGTGGAG ACCTACTTAATCCACACCAGTGTCCTAATGTGTAGACCCCTGTGGAGACC TACTTAATTCACACCAGGTGTCCTGATGTGTAGACCCCTGTGGAGACCTA CTTAATTCACACCGGGTGTCCTGATGCGTAGACTCCTGTGGATACCTACT TAATTCACACCGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAA TCCACACCGGGTGTCCTGATGCGTAGACTCCTGTGGAGACCTACTTAATC CACACCGGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATTCA CACCAAGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACA CCGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCG GGTGTCCTGATGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BAHCC1_chr17_81390457_81471331	81426076	T T	TGGTGATG others(471): Show TGGTGATGTGGTTGGTGGTGATAATTGTGGGTGATGTGGTTGGGGGTGAT AGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGC GGTGATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTG GTTGGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGCGGTTGGTG GTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGG GTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTG GTTGGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGT TGGTGATGTGGTTGGTGGTGATAGTGGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01109.hp2 others(35): Show HG00438.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp2 HG02738.hp1 HG03491.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18944.hp2 NA18952.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA19002.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19080.hp1 NA19085.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0024 a0039 a0044 a0046 a0050 a0054	a0001c0001 a0001c0016 a0001c0056 others(14): Show a0001c0001 a0001c0016 a0001c0056 a0002c0009 a0002c0025 a0002c0084 a0003c0002 a0004c0011 a0005c0028 a0009c0024 a0011c0017 a0024c0082 a0039c0087 a0044c0081 a0046c0052 a0050c0059 a0054c0049	a0001c0001t0001 a0001c0016t0001 a0001c0056t0003 others(15): Show a0001c0001t0001 a0001c0016t0001 a0001c0056t0003 a0002c0009t0004 a0002c0025t0003 a0002c0084t0001 a0003c0002t0001 a0003c0002t0004 a0004c0011t0004 a0005c0028t0001 a0009c0024t0001 a0011c0017t0001 a0024c0082t0001 a0039c0087t0004 a0044c0081t0001 a0046c0052t0001 a0050c0059t0032 a0054c0049t0001	a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0176 others(35): Show a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0176 a0001c0001t0001g0225 a0001c0016t0001g0316 a0001c0056t0003g0284 a0002c0009t0004g0121 a0002c0025t0003g0065 a0002c0025t0003g0212 a0002c0084t0001g0070 a0003c0002t0001g0049 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0074 a0003c0002t0001g0097 a0003c0002t0001g0098 a0003c0002t0001g0100 a0003c0002t0001g0101 a0003c0002t0001g0103 a0003c0002t0001g0104 a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0001g0107 a0003c0002t0001g0111 a0003c0002t0004g0115 a0003c0002t0004g0182 a0003c0002t0004g0194 a0003c0002t0004g0280 a0004c0011t0004g0071 a0005c0028t0001g0226 a0009c0024t0001g0175 a0011c0017t0001g0299 a0024c0082t0001g0099 a0039c0087t0004g0165 a0044c0081t0001g0236 a0046c0052t0001g0195 a0050c0059t0032g0125 a0054c0049t0001g0102	38	79	0.4810	478	c.179 others(493): Show c.179-702_179-701insATTGTGGGTGATGTGGTTGGGGGTGATAGT GGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGCGGT GATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTGGTT GGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGCGGTTGGTGGTG ATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTGGTT GGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGTTGG TGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATA	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81426076	T T	TGGTGATG others(471): Show TGGTGATGTGGTTGGTGGTGATAATTGTGGGTGATGTGGTTGGGGGTGAT AGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGC GGTGATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTG GTTGGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGTGGTTGGTG GTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGG GTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTG GTTGGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGT TGGTGATGTGGTTGGTGGTGATAGTGGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0164 a0001c0043t0001g0164	1	42	0.0238	478	c.179 others(493): Show c.179-702_179-701insATTGTGGGTGATGTGGTTGGGGGTGATAGT GGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGCGGT GATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTGGTT GGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGTGGTTGGTGGTG ATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTGGTT GGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGTTGG TGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATA	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1orf159_chr1_1076823_1121089	1076911	G G	GGAGGCTG others(471): Show GGAGGCTGAGTCTACGGGGACTCCGTGCGGGGTGGCTGAGTCTATGGGGA CTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAG TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCG GGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGG GGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG GCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGG GGTGGCTGAGGCTATGGGGACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	243	0.0041	478	c.59 others(489): Show c.5981_*5982insGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCA CGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCCCCCGA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCA CGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAG CCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCC ATAGACTCAGCCACCCCGCACGGAGTCCCCGTAGACTCAGCCTC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4911		chr1	TogoVar
CAPN11_chr6_44153820_44189401	44182127	A A	ACACACTC others(471): Show ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACACAACCACACCACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACACACACATACACAC TCACATACAGACACAACCACACCACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACTCACATACAGACACAACCACACCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACA CTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	458	0.0022	478	c.193 others(495): Show c.1939-810_1939-809insCTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACACTCACATACAGACACAACCACACCACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(471): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC TCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTC GCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0212 a0001c0002t0003g0212	1	376	0.0027	478	c.-22 others(495): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(471): Show ACGTCGTCGTCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0002 a0001c0004t0003g0002	2	377	0.0053	478	c.-22 others(495): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGTCGTCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215648	T T	TTCCTTCC others(471): Show TTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCTCCCCCTCCT TCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACC CCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	3	0.3333	478	c.-28 others(489): Show c.-2873_-2872insGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGGTGC TGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG GGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAG GGGGAGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2807		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215648	T T	TTCCTTCC others(471): Show TTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCTCCCCCTCCT TCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	3	0.3333	478	c.-28 others(489): Show c.-2873_-2872insGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG GGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAG GGGGAGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2807		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293482	T T	TCACCTTC others(471): Show TCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACGTGC CACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTCTC ACCTGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATCCTCACGT GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTC TCACCTGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTC CTATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCC ACCTTCCTGTCCCCTCACCTGCCACGGCC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0181 a0001c0006t0001g0181	1	253	0.0040	478	c.411 others(495): Show c.4112+690_4112+691insGGCCGTGGCAGGTGAGGGGACAGGAAGG TGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATA GGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCAGGTG AGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CACGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAA GGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCAGG TGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCACGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDH8_chr16_61642250_62041438	61960228	C C	CATACATA others(471): Show CATACATATATACATATGTGTGTATACACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTGTATGCACATACATATA TACATATGTGTGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATATGTGTGTATACACATACATATATACATATGTGTGTG TATACACACATATATACATATGTGTGTGTATACACACACACATATGTATA TATGTATGTGTATACACACACATATATGTATATATGTATGTGCATACACA CACACACATGTATATATGTATGTGTATACACATACATATATACATATGTG TGTGTATACACATACATATATACATGTGTGTGTGTATGCACATACACATA TACATATATGTGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATATGTGTGTATACACAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18966.hp2 NA18964.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0143 a0001c0003t0002g0144	2	64	0.0313	478	c.253 others(497): Show c.253-58756_253-58755insATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACATATAT GTATATGTGTATGTGCATACACACACACATGTATATATGTATGTGTATAC ACACACATATGTATATATGTATGTGTATACACATACATATATACATGTGT GTGTGTGTATGCACATACATATATACATATATGTGTGTGTATACACATAC ATATATACATATGTGTGTGTGTATACACACACATATGTATATATGTGTGT ATACACACACATATGTATATATGTATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACACATAT GTATATATGTATGTGCATACACACACATATGTATATATGTATGTGTATAC ACACACACATATGTATATATGTATGTGTATACACACATATGTATATATGT AT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960228	C C	CATACATA others(471): Show CATACATATATACATATGTGTGTATACACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTGTATGCACATACATATA TACATATGTGTGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATATGTGTGTATACACATACATATATACATATGTGTGTG TATACACACATATATACATATGTGTGTGTATACACACACACATATGTATA TATGTATGTGTATACACACACATATATGTATATATGTATGTGCATACACA CACACACGTATATATGTATGTGTATACACATACATATATACATATGTGTG TGTATACACATACACATATACATGTGTGTGTGTGTATGCACATACACATA TACATATATGTGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATATGTGTGTATACACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	63	0.0159	478	c.253 others(497): Show c.253-58756_253-58755insATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACATATAT GTATATGTGTATGTGCATACACACACACACATGTATATGTGTATGTGTAT ACACACACATATGTATATATGTATGTGTATACACATACATATATACGTGT GTGTGTGTATGCACATACATATATACATATATGTGTGTGTATACACATAC ATATATACATATGTGTGTGTGTATACACACACATATGTATATATGTGTGT ATACACACACATATGTATATATGTATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACACATAT GTATATATGTATGTGCATACACACACATATGTATATATGTATGTGTATAC ACACACACATATGTATATATGTATGTGTATACACACATATGTATATATGT AT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960228	C C	CATACATA others(471): Show CATACATATATACATATGTGTGTATACACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTGTATGCACATACATATA TACATATGTGTGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATATGTGTGTATACACATACATATATACATATGTGTGTG TATACACACATATATACATATGTGTGTGTATACACACACATATGTATATA TGTATGTGTATACACACACATATATGTATATATGTATGTGCATACACACA CACACATGTATATATGTATGTGTATACACATACATATATACATATGTGTG TGTATACACATACATATATACATGTGTGTGTGTGTATGCACATACACATA TACATATATGTGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATATGTGTGTATACACAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02965.hp1 HG02615.hp2 HG02622.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0112 a0001c0001t0008g0120 a0001c0001t0009g0113 a0001c0001t0008g0112 a0001c0001t0008g0120 a0001c0001t0009g0113	3	65	0.0462	478	c.253 others(497): Show c.253-58756_253-58755insATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACATATAT GTATATGTGTATGTGCATACACACACACACATGTATATATGTATGTGTAT ACACACACATATGTATATATGTATGTGTATACACATACATATATACATGT GTGTGTGTGTATGCACATACATATATACATATATGTGTGTGTATACACAT ACATATATACATATGTGTGTGTATACACACACATATGTATATATGTGTGT ATACACACACATATGTATATATGTATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACACATAT GTATATATGTATGTGCATACACACACATATGTATATATGTATGTGTATAC ACACACACATATGTATATATGTATGTGTATACACACATATGTATATATGT AT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CHODL_chr21_18239833_18272370	18251520	T T	TAAATATT others(471): Show TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATA AATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAA AATATTTATTTTATTTATTTTAATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	383	0.0026	478	c.80- others(493): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTTAATATATAAAATATTTATTTTATTTATTTTAATATATAA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098162	T T	TATATATA others(471): Show TATATATAAATATATATATAAATATATATATAAATATATATATATAAATA TATATAAATATATAACTATATAAATAAATATATATAAATATATAAATATA TAAAAATATATATAAATATATATGTAAATATATAAATATATATAAATATA TATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATATA TATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATA AATATATATATAAATATATATAAGTATATATAAATATATATAAATATATA TAAGTATATATAAATATATAAAAATATATATAAGTATATATAAATATATA TAAATATATATAAATATATGCAAATATATATAAATATATATAAATAGATA TATAAATAGATATAAATAGATATAAATAGATATATAAATACATATATAAA TAGATATAAATACATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0059 a0001c0001t0008g0059	1	220	0.0045	478	c.181 others(497): Show c.1812+3309_1812+3310insTTATATATTTATATATGTATTTATAT CTATTTATATATGTATTTATATATCTATTTATATCTATTTATATCTATTT ATATATCTATTTATATATATTTATATATATTTGCATATATTTATATATAT TTATATATATTTATATATACTTATATATATTTTTATATATTTATATATAC TTATATATATTTATATATATTTATATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATTTATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATTTATATATTTACATATATATTTATATATATTT TTATATATTTATATATTTATATATATTTATTTATATAGTTATATATTTAT ATATATTTATATATATATATTTATATATATATTTATATATATATTTATAT AT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CPNE4_chr3_131528569_132040014	131978218	A A	ATTTATAT others(471): Show ATTTATATATATTTATATTTATATATATATTTTTATATATATTTATATAT ATATTTTTATATATTTATATAGATATTTTTATATATTTATATATTTATGT ATATATATTTTTATATAATTTATATATATTTATATATATATATTTATATA TATATTTATATATATATATTTATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATTTATATATATATTTATATATATTTATATATATTTATATATTTATA TATATTTATATATTTATATATATATTTATATATATTTATATATTTATATA TATATTTATATATATTTATATATTTCTATATATATTTATATATTTATATA TATTTTTATATATTTATATATATATTTATATATTTATATATATTTTTATA TATTTATATATATATTTATATATTTATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	81	0.0123	478	c.-2+ others(495): Show c.-2+56348_-2+56349insATATAAATATATAAATATATATATAAAT ATATAAAAATATATATAAATATATAAATATATATATAAATATATAAAAAT ATATATAAATATATAAATATATATAGAAATATATAAATATATATAAATAT ATATATAAATATATAAATATATATAAATATATATATAAATATATAAATAT ATATAAATATATAAATATATATAAATATATATAAATATATATATAAATAT ATAAATATATATATAAATATATATAAATATATATATAAATATATATAAAT ATATATATAAATATATATATAAATATATATAAATATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATTATATAAAAATATATA TACATAAATATATAAATATATAAAAATATCTATATAAATATATAAAAATA TATATATAAATATATATAAAAATATATATATAAATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DCLK1_chr13_35763652_36136382	35958279	T T	TTACTACT others(471): Show TTACTACTATAACCACCACCACCACCACCACTATAATCATTACCACTATA CCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCATC ATCATCACCACCACTACCACTACTATAACCATTACCACCATCACTGCTAT AACCACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCA CCACTACCACCACTACCACTATGATAACCATCACCAACACCACTATAACC ACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACC AGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCACTACT ACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCACCAC CACCATCACTATAATCATCACCATCATCACCACTATAACCACCACTACCA CCACCACCACCAGTTATAACCATCACCAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0052 a0001c0006t0052	a0001c0006t0052g0186 a0001c0006t0052g0186	1	137	0.0073	478	c.724 others(497): Show c.724-10823_724-10822insGTGGTGATGGTTATAACTGGTGGTGG TGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAGTGATG GTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGT GGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTATC CCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCATT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGCAGTGATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGAT GATGATGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGG TGGTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTTATAGTAG TA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251117	T T	TCCCTCAC others(471): Show TCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCA CACCACACATCCCTCACACCCCCCACACCCCCCAACACCCCCACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCAACAC CCCCACACCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACAC CCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCA CACCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCCACACCAC ACATCCCTCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACAC CCCCCACACCCCCACACCCCCCACACCACACATCCCCCACACCCCCCACA CCCCCCAACACCCCCACACCCCCACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	105	0.0095	478	c.207 others(497): Show c.2073+1436_2073+1437insTCACACCCCCCACACCCCCCACACCA CACATCCCTCACACCCCCCACACCACACATCCCTCACACCCCCCACACCC CCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACA CCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACCC CCCACACCACACATCCCCCACACCCCCCACACCCCCCAACACCCCCACAC CCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCAAC ACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCC ACACCCCCCACACCACACACCCCCCACACCCCCACACCCCCCACACCACA CATCCCCCACACCCCCCACACCCCCCAACACCCCCACACCCCCACACACC CC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(471): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	164	0.0061	478	c.-42 others(489): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875272	C C	CCACCCCC others(471): Show CCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCCACCCGC ACCGGCACCCCCACCCTCACCCTCACCCCCACCCCCACCCCCACCCCACC CCCACCCCCACCCTCACCCCCACCCCCACCCCACCCCCACCCCCACCCTC ACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCCAC CCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCC GCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18943.hp2 NA19003.hp2 others(1): Show HG00597.hp1 NA18943.hp2 NA19003.hp2 NA19007.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0020 a0007c0007t0001g0193 a0007c0007t0001g0194 others(1): Show a0007c0007t0001g0020 a0007c0007t0001g0193 a0007c0007t0001g0194 a0007c0007t0001g0195	4	304	0.0132	478	c.39 others(489): Show c.3960_*3961insCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGCGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGG GGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGG TGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGG GGTGGGGGTGGGGGTGGGGGTGAGGGTGAGGGTGGGGGTGCCGGTGCGGG TGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2470		chr20	TogoVar
DIP2C_chr10_269201_694668	608556	C C	CCCACACA others(471): Show CCCACACACACACACACCCCCCCCACACACACACACCCCCCCACACACAC ACACACACCCCCCCCCACACACCCCCCCCACACACACACACCCCCCCCAC ACACACACACCCCCCCCCACACACACACACCCCCCCCACACACACACACC CCCCCCCACACACACACACCCCCCCCCACACACACACACCCCCCCCCCAC ACACACACACCCCCCCCCACACACACACACCCCCCCCCACACACACACAC ACATCCCCCCCCACACACACACACACATCCCCCCCCACACACACACACAT CCCCCCCCACACACACACACATCCCCCCCCCACACACACACACATCCCCC CCACACACACACACACATCCCCCCCCCACACACACATCCCCCCCCACACA CACACACACATCCCCCCCCACACACACACACACATCCCCCCCCACACACA CACACATCCCCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0003 a0001c0009t0003g0003	1	71	0.0141	478	c.85+ others(495): Show c.85+80937_85+80938insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGGGGGGGGATGTGTGTGTGTGTGTGGGGGGGGATGTGTGTGT GTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGGATGTGTGTGTGTGTGTG GGGGGGATGTGTGTGTGTGTGGGGGGGGGATGTGTGTGTGTGTGGGGGGG GATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGTGGGGGGGGATG TGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTG TGTGGGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGGGGGG GGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTG TGTGGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGGGGGGGGGTGTGTG TGTGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608557	C C	CCACACAC others(471): Show CCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACAC ACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCC CCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACAC ACATCCCCCCCACACACACACATCCCCCCCCCACACACACATCCCCCCCC CACACACACATCCCCCCCCACACACACATCCCCCCCCACACACATCCCCC CCACACACACACATCCCCCCCACACACACACATCCCCCCCCACACACACA TCCCCCCCCCCACACACACATCCCCCCCCACACACACACATCCCCCCCCA CACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACA TCCCCCCCCACACACACACATCCCCCCCCACACACACATCCCCCCCCACA CACACACATCCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	71	0.0141	478	c.85+ others(495): Show c.85+80936_85+80937insATGTGTGTGTGTGGGGGGGGATGTGTGT GTGTGGGGGGGGATGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGG ATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGGG ATGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTG GGGGGGATGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGATGTGTGTGT GGGGGGGGGATGTGTGTGTGGGGGGGGGATGTGTGTGTGTGGGGGGGATG TGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTG GGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATG TGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1164112	G G	GCCCCCCC others(471): Show GCCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGA GTCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTGTGAGCCCC CCAGGGTTTGTTTTGGTTTGTGCGGATAGATTTTTCTGTGAGCCCCCAGG GCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGT CATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCG TTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCCGTCGT TTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCAT TTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCGTTT TGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTT GGTTTGTGGGGACAGATTTTTCTGTGAGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	22	0.0455	478	c.74- others(495): Show c.74-94736_74-94735insCCCCAGGGCCTGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGTCCCCCCAGGGCCCCTCGTTTTGGTTTGTGG GGACTGATTGTGAGCCCCCCAGGGTTTGTTTTGGTTTGTGCGGATAGATT TTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTG TGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTG AGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAG CCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGC CCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGC CCCCAGGGCCCGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCC CCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	141114	T T	TGAGGGGA others(471): Show TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGGGACATGGTGAGGAGGACCTGGGGGGGAC CTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAG GAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGG TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACC TGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGA ACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGGGG GACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTGGTGA GGAGGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCT GGTGAGGGGACCTGGTGAGGGGACATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0279 a0001c0002t0016g0279	1	336	0.0030	478	c.63 others(489): Show c.6326_*6327insCCCATGTCCCCTCACCAGGTCCCCTCACCAGGTC CCCTCACCAAGGCTCCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACC AGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCCCC CATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCACCCATGTTCCCC TCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCC CCTCACCAGGTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGG TCCTCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCAC CAGGTCCTCCTCACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCC CCCCAGGTCCTCCTCACCATGTCCCCTCACCAAGGTCCCACCCATGTTCC CCTCACCAGGTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1674		chr17	TogoVar
DPP6_chr7_154047398_154899285	154063675	C C	CGCAGGAG others(471): Show CGCAGGAGGGGGAGGCACCCCCAATGAGAGTGGGGACTGAGAGCCAACCC CTCTTCCCCCCCTGGCTCTTGGGACCACCATCGCAGGGGGGGAGGCAATC CCCCCGAGGCGGGACTGCGAACCTCCGCCTTTCCCCCCCTCGCTCTTTGC ACCCCCATCGCAGGGGGGGAGGCACCCCTCGCGACGCGGGGACTGAGAGC GAGCCCCTCTTCCCCCCTTTGCTCTTAGGATCCCCATCGCTGGGGGCGGA GGCACCCCCCGCGAGGCAGGGACTGAGAGCCAGTCCCTCTTCCCCCCCTG GCTCTGAGGACCCCCATCGCAGGAGGGAGAGGCACCCCCCACGAGGGTGG GGACTGAGAGCTATCCCCTCTTCCGCCCCTGGTTGTTAGTACCCCCATCG CAAGCAGGGGAGGCACCCCCCGCGAGGCAGGGACTGAGAGCCACTCCCTC TTCCCCCTCTGGCGCTTAGGACCCCCATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0014 a0002c0023t0014	a0002c0023t0014g0017 a0002c0023t0014g0017	1	18	0.0556	478	c.243 others(497): Show c.243+10612_243+10613insGCAGGAGGGGGAGGCACCCCCAATGA GAGTGGGGACTGAGAGCCAACCCCTCTTCCCCCCCTGGCTCTTGGGACCA CCATCGCAGGGGGGGAGGCAATCCCCCCGAGGCGGGACTGCGAACCTCCG CCTTTCCCCCCCTCGCTCTTTGCACCCCCATCGCAGGGGGGGAGGCACCC CTCGCGACGCGGGGACTGAGAGCGAGCCCCTCTTCCCCCCTTTGCTCTTA GGATCCCCATCGCTGGGGGCGGAGGCACCCCCCGCGAGGCAGGGACTGAG AGCCAGTCCCTCTTCCCCCCCTGGCTCTGAGGACCCCCATCGCAGGAGGG AGAGGCACCCCCCACGAGGGTGGGGACTGAGAGCTATCCCCTCTTCCGCC CCTGGTTGTTAGTACCCCCATCGCAAGCAGGGGAGGCACCCCCCGCGAGG CAGGGACTGAGAGCCACTCCCTCTTCCCCCTCTGGCGCTTAGGACCCCCA TT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
FLT4_chr5_180596506_180654600	180615704	T T	TTCCTTTC others(471): Show TTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCATCCACTTC CTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTC GGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCA CTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGC CTGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCTGCCG GTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCGCCGGTCAC CTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCC TTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTC CTTTCGGAGCACTGGGCCTGCCGGTCACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0369 a0002c0003t0001g0369	1	292	0.0034	478	c.321 others(495): Show c.3219+662_3219+663insGGTGACCGGCAGGCCCAGTGCTCCGAAA GGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGA AGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGA GGTGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGA CCGGCAGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCA GGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCA GTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTC CGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAA GGAAGTGGATGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
GABRA3_chrX_152161234_152456315	152182740	C C	CTATATAT others(471): Show CTATATATACACTATATATGTATAGTATATATACACTATATATATAGTAT ATATACACTATATATATAGTATATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATA TACACTATACACTGTATATGTATATATAGTGTATATATACACTATACACT GTATATGTATATATAGTGTATATATAGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	202	0.0050	478	c.114 others(497): Show c.1143+6989_1143+6990insCACTATATATACACTATATATACATA TACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAGT GTATATATACACTATATATACATATACAGTGTATAGTGTATATATACACT ATATATACATATACAGTGTATAGTGTATATATACACTATATATACATATA CAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAGTGT ATATATACACTATATATACATATACAGTGTATATATAGTGTATATATACA CTATATATACATATACAGTGTATATATACACTATATATACACTATATATG TATATATATACATATATAGTGTATATATAGTGTATATATACTATATATAT AGTGTATATATACTATATATATAGTGTATATATACTATATATATAGTGTA TATATACTATATATATAGTGTATATATACTATACATATATAGTGTATATA TA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(471): Show AGGCTGGGGAGACTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGGAGGCTG GGGAGGTGGAGGCTGGGGAGGTGGGGAGGCTGGGGGCTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGA AGGCTGGGGAGGTGGGGGGCTAAGAAGGCTGGGGGGCTGGGGTGCTGGGG AGGCTGGGGAGGTGGGGGCTGGGGAGGCTGGGGGGCTGGGGCGCTGGGGA GGCTGGGGAGGCTGGGGGTGCTGGGCAGGCTGAGGAGGTGGGGAGGCTGG GGGAGCAAGGGGTGGGGGAGGTAGGGAGGCTGGGGAGGCTGGGGGCGGGG GAGTCTGGGGAGGCTGGGGGGGGTGGGGGGCTAGGAGGTGGGGGAGGCGG GGAGGCTGGGGAGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0005 a0009c0012t0005	a0009c0012t0005g0199 a0009c0012t0005g0199	1	129	0.0078	478	c.148 others(495): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCCAGCCTCCCCAGACT CCCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCC CCCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGC CTCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCC TCCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCC TTCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCC TCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCC CCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCC CCAGCCTCCCCAGACTCCCAGCACCCCCAACCTCCCCAGTCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346769	T T	TGGGAGGA others(471): Show TGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCCG AGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATC TCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACC CGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGCCTG ACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAACAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACC CAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTG ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACC TCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCCGAGAGCGGACC CAGGAGCACCTCTGTGGCTGAGCGGATCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	148	0.0068	478	c.466 others(495): Show c.466-1811_466-1810insGGATCCGCTCAGCCACAGAGGTGCTCCT GGGTCCGCTCTCGGCCACAGAGGTCCTCCCAGGTCTGCTCTCGGCCACAG AGGTCCTCCCGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTG TCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCT GGGTCTGCTCTCGGCCACAGAGGTCCTCCTGGGTCTGTTCTCAGCCACAG AGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCACTG TCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCC GGGTCTGCTCTTGTCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAG AGATCCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCTGGGTCTGCTC TCGGCCACAGAGGTCCTCCCGGGTCTGCTCTTTGCCACAGAGGTCCTCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(471): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCC CCTCCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCTCCTCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	175	0.0057	478	c.427 others(495): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCC CCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HBQ1_chr16_175459_186179	182788	G G	GTGAAACA others(471): Show GTGAAACACCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATACAAAAATTAGCCAGGCATAGTGGCGGGCGCCT GTAATCCCAGCTGTTCGGGAGGCTGAGGCAGGACAATCACTTAAACCAGG GAAGCAGAGGTTGCAGTGAGCTGAGATCGAGCCACTGCACTCCAGCCTGG GCGACAGACCGAGACTGTCTCAAAAAAAAGACCGGGCACGGTGGCTCACG CCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCTGATCACGATGTCA GGAGATCTAGACCATCCTGGCCAACATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG03209.hp1 HG00738.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	237	0.0084	478	c.16 others(489): Show c.1680_*1681insTGAAACACCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCCAGGCA TAGTGGCGGGCGCCTGTAATCCCAGCTGTTCGGGAGGCTGAGGCAGGACA ATCACTTAAACCAGGGAAGCAGAGGTTGCAGTGAGCTGAGATCGAGCCAC TGCACTCCAGCCTGGGCGACAGACCGAGACTGTCTCAAAAAAAAGACCGG GCACGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGG CTGATCACGATGTCAGGAGATCTAGACCATCCTGGCCAACATGT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		1610		chr16	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307546	A A	AATATATA others(471): Show AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATATTTTATATTATATATATTATATATAATATATATA TTTTATATTATATATATTATATATAATATATATATTTTATATTATATATA TTATATATAATATATATATTTTATATTATATATATTATATATAATATATA TATTTTATATTATATATATTATATATAAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	114	0.0088	478	c.697 others(497): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAATATATATATTTTATATTATATATATTATATATAATATATATATTT TATATTATATATATTATATATAATATATATATTTTATATTATATATATTA TATATAATATATATATTTTATATTATATATATTATATATAATATATATAT TTTATATTATATATATTATATATAATATATATATTTTATATTATATATAT TATATATAATATATATATTTTATATTATATATATTATATATAATATATAT AT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GATGGGCA others(471): Show GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGA GGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0011 a0001c0004t0001g0012	2	14	0.1429	478	c.978 others(495): Show c.978-2483_978-2482insATGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(471): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTACCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	11	0.0909	478	c.10- others(495): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT ACCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCC CCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(471): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01069.hp1 others(4): Show HG00099.hp2 HG00280.hp1 HG01069.hp1 HG01071.hp1 HG01256.hp2 HG02683.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0125 others(4): Show a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0216	7	17	0.4118	478	c.10- others(495): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCC CCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar

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