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
LOC128462377_chr16_89312046_89423292	89342040	C C	CGGCCACG others(959): Show CGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCC ACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCA CGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCG GGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAGT GCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGTGCTGCACC TCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTC CACGAACAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACA GCGGCCACAGCCCACGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCAC GGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCC ATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGG AGTGCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGC TGCACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAGTGCTGCAC CTCCACCCACAGCGGCCACAGCCCACGGCGGGAGTGCTGCACCTCCACTG CCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCACCCACAGC GGCCACAGCCCACGGCAGGAGTGCTGCACCTCCTCCACGAACAGCGGCCA CGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCGGCCACGGCC CACGGCGGGAGTGCTGCACCTCCACCCACAGCGGCCACGGCCCACGGCAG GAGTGCTGCACCTCCTCCACGAACAGCGGCCACGGCCCACGGCGGGAGTG CTGCACCTCCTCCACGAACAGCGGCCACGGCCCACGGCGGGAGTGCTGCA CCTCCACTGCCCACAGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	366	0.0027	966	c.10- others(983): Show c.10-24966_10-24965insTCTGTGGGCAGTGGAGGTGCAGCACTCC CGCCGTGGGCCGTGGCCGCTGTTCGTGGAGGAGGTGCAGCACTCCCGCCG TGGGCCGTGGCCGCTGTTCGTGGAGGAGGTGCAGCACTCCTGCCGTGGGC CGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCG CTGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTT CGTGGAGGAGGTGCAGCACTCCTGCCGTGGGCTGTGGCCGCTGTGGGTGG AGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGCAGTGGAGGTG CAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAGCACTC CTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTCCCGCC GTGGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGG CTGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCT GCTGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGT GGGTGGAGGTGCAGCACTCCTGCCGTGGGCTGTGGCCGCTGTGGGTGGAG GTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCA GCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACT CCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCAT GGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCC GTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGC CGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTC GTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(959): Show TGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTC GCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCAC GTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTG CCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCC ACTGCCACGTCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACG TCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTG CCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCATCCCGTCCC CACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCG TCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCC CTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCAC GTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACT GCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCACC ACCACGTCCACACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCA CTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp1 NA18999.hp2 others(2): Show HG02080.hp2 HG02165.hp1 NA18999.hp2 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0175 a0001c0001t0002g0231 others(2): Show a0001c0001t0002g0055 a0001c0001t0002g0175 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233	5	264	0.0189	966	c.180 others(985): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGTGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGAT GAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGAC GGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTG GGGACGGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACGGGGCGAG GGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGA TGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGT GGGGACGGGATGAGGGGACGTGGCAGTGGGGACGTGGCAGTGGGGACGGG GCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACG TGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCG AGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTCCCC others(959): Show CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CTCTCCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CGCTCCCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTCCC CCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCTTCTTTCACCT CCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACCTCCCCCTCCCC CCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACTCCTCCCCCTC CCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCCTTTTCCCCCTC CCCCCCTCCATGTTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCCCTTCCCCCTC CCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCTTCCCCCTCCCCCTT CCCCTTCCCCCTCCCCCTTCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTT CCCCTTCCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCC CCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCCTCTCCCTCACCC TCACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTC CCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATC CCCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0001 a0001c0001t0028g0001	1	194	0.0052	966	c.-12 others(985): Show c.-12-17662_-12-17661insTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCTCTCCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCT CCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCT CCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCT CTTCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCAC CTCCCCCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCA CTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCC CTTTTCCCCCTCCCCCCCTCCATGTTCCCCCTCCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCC CCCTTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCTTC CCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTTCCCCTTCCCCCTC CCCCTTCCCCTTCCCCTTCCCCCTTCCCCTTCCCCTCCCCCTTACTCTCC CCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCC TCTCCCTCACCCTCACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATC CCCCTCCCCCTCCCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTC CCCATCTCCATCCCCCTCCCCCTCCTCCTCCTCCCCCTCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(959): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGGAG GAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGA GGAGGGAGAGGAGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAA GGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGG GGGGAGGAGTGAGAGAAGGGGGGGAGGAGGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGA GGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGGAAGGATGGGGAGGAG GGAAAAGAGGAGGAGGGGGAGGAGGAGAGAAGGAAGGGGAGAAAGAAGAG GAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGG GAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAG GGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAG GAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0035 a0035	a0035c0036 a0035c0036	a0035c0036t0001 a0035c0036t0001	a0035c0036t0001g0166 a0035c0036t0001g0166	1	280	0.0036	966	c.641 others(981): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCC TTCCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCCTCCTCCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTC TTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCC TCCCCCCTTCTCTCCCTCCTCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCC CTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTC TCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCCTTCT CTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MLPH_chr2_237482251_237560322	237544181	G G	GGGACAGT others(959): Show GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTG GAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAG TGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	286	0.0035	966	c.153 others(985): Show c.1539+1524_1539+1525insACAGTGGTGAGTGGGGACAGTGGTGA GTGGAGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTG GCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTG GCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(959): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGG AGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGG AGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAG GGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGG GGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGG GAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGG GGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00280.hp1 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	272	0.0074	966	c.250 others(981): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCC CCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCC CCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTC CCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCT TTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(959): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGG AGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAG GGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGG GGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGG GAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGG GGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19079.hp2 HG00621.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0121 a0001c0001t0001g0080 a0001c0001t0001g0121	2	272	0.0074	966	c.250 others(981): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCC CCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCC CCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTC CCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCT TTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(959): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGGAGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAA GGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGG GGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGAGGGGGGAGGGAGGGGAGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAG GGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGAGGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGG GGGAGGGAAGAGAGGGAGGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGG GGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGG AGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGG GGAGGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGG GAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGG GGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	272	0.0037	966	c.250 others(981): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCCTCCCCCTCCACTCCCC TCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCC TCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCT CCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTC TCTTCCCTCCCCCTCCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCTCCC CTCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCTCCCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCC CTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTC CCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCTCCCCCCT TTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(959): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCA GTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCCAGTC CCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACA GAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGC CCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCC GTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTC CCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACA GAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCC CCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACT CCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCC CCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACA GAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCC CCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0320 a0001c0014t0003g0320	1	324	0.0031	966	c.140 others(983): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGG ACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGG CTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGG GGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAG GGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTT GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGGACTCGGGG GCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTC TGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(959): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGAGGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGAGGAGGAGGAAGGGGGAGGGGGAGGGAG GAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGAGGT GGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGGAGGAGGGGA GGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGGAGG GGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGA GGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGGAGGGGAGGA GGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAG GGGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAG GGAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGG AGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGG GAGGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGG AGGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGA GGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAG GAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGG GAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAA GGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAG GAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0145 a0001c0008t0001g0145	1	208	0.0048	966	c.279 others(981): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCT CCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCC CCCCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTC CCCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCTC CCCCTTCCTCCTCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTC CCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCC CCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCC TTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(959): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGA GGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGAGG TGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGGAGGAGGGG AGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGA GGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAG GGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAGG GGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGG GAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGA GGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGGG AGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGG AGGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGA GGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAG GAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGG GAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAA GGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAG GAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0144 a0011c0020t0001g0144	1	208	0.0048	966	c.279 others(981): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCC TCCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCC CTCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCT CCCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCC CCCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCC CCCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCC CCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCTCC CCCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCC CCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCC TTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(959): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGA GGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGAGG TGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGGAGGAGGGG AGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGGAGG AGGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGA GGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAG GGGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAG GGAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGG AGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGG GAGGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGG AGGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGA GGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAG GAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGG GAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAA GGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAG GAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	208	0.0048	966	c.279 others(981): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCC CCCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCC CCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCTCC CCCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCC CCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCC TTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(959): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAG GGGGAGGGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGG AGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGAG GTGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGGAGGAGGG GAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGA GGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAG GGGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAG GGAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGG AGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGG GAGGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGG AGGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGA GGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAG GAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGG GAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAA GGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAG GAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	208	0.0048	966	c.279 others(981): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCCC CCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCCC CCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCTCCC CCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCC CCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCC TTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCACCCT others(959): Show TCCACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGTCCCCCCTGAC CACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCT CACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCC TCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGG AGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACAG GCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCC TGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTC CACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	242	0.0041	966	c.361 others(985): Show c.361-15366_361-15365insGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGG TCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTG TGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCG GGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCT CGCGGGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGG TCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCTCCATGGTCGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCT GTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGG GACCCGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(959): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGAT AGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	279	0.0036	966	c.215 others(983): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGATAGTAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PJA2_chr5_109329722_109414974	109354509	T T	TATAGATT others(959): Show TATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGATA TCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTATG ATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATGTCTATAGATTAGATATCTA TGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATTT CTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATC TATGATATCTAGAGATATCTATAGATTAGATATCGATATCTAGAGATATC TATAGATTAGATATCTATATCTAGAGATATCTATAGATTAGATATCTATG ATATCTCGAGATATCTATAGATTAGATATCTATGATATCTCGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATA TCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAG ATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTGGA TATCTATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGA TATCTATAGATTCGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0104 a0003c0003t0002g0104	1	346	0.0029	966	c.176 others(985): Show c.1764+1405_1764+1406insCTCTAGATATCATAGATATCTAATCT ATAGATATCTCTAGATATCATAGATATCGAATCTATAGATATCTCTAGAT ATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCCAATCTA TAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATA TCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGA TATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAA TCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTA GATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC GAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGATAT CTAATCTATAGATATCTCTAGATATAGATATCTAATCTATAGATATCTCT AGATATCGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAA TCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAATCTCTA GACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGATATCT AATCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATAT CTAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCTCTAG ATATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGATATCTA ATCTATAGATATCTCTAGATATCATAGATATCCAATCTAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(959): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAG GGGGGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGG GGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGA GGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAG AGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAG GGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAG GGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAG AGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAG AGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGG CGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCG AGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAG AGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp1 HG02698.hp1 HG03017.hp1	a0002 a0044 a0002 a0044	a0002c0002 a0044c0049 a0002c0002 a0044c0049	a0002c0002t0001 a0044c0049t0001 a0002c0002t0001 a0044c0049t0001	a0002c0002t0001g0068 a0044c0049t0001g0066 a0002c0002t0001g0068 a0044c0049t0001g0066	2	308	0.0065	966	c.371 others(983): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCA CCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCC TCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTC TCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCT CTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(959): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAG GGGGGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGG GGGAGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGA GGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAG AGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAG GGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAG GGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAG AGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAG AGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGG CGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCG AGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAG AGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02735.hp2 HG03491.hp2 others(9): Show HG01071.hp1 HG02735.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp1 NA18942.hp2 NA18966.hp2 NA18986.hp1 NA19065.hp1 NA19066.hp1 NA20752.hp2 NA20805.hp1	a0002 a0011 a0016 others(2): Show a0002 a0011 a0016 a0017 a0018	a0002c0002 a0002c0046 a0011c0011 others(3): Show a0002c0002 a0002c0046 a0011c0011 a0016c0014 a0017c0016 a0018c0018	a0002c0002t0001 a0002c0046t0001 a0011c0011t0001 others(3): Show a0002c0002t0001 a0002c0046t0001 a0011c0011t0001 a0016c0014t0001 a0017c0016t0001 a0018c0018t0001	a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0086 others(9): Show a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0046t0001g0089 a0011c0011t0001g0227 a0016c0014t0001g0253 a0016c0014t0001g0255 a0017c0016t0001g0181 a0018c0018t0001g0275	12	308	0.0390	966	c.371 others(983): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCA CCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCC TCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTC TCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCT CTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PRKCB_chr16_23830983_24225611	23982176	T T	TCCCTTTC others(959): Show TCCCTTTCCCTTCCTCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCGCCT TCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCT TCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTCCCTT CCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCCCCTT CCCTTCCCTTTCCCTTCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCT TCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCT TTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTTCCC TTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCTTCCCCTTCCCCTCCCCCTTCCCTTCCCCTTCCCCTTCC CTTTACCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCCTTC CCTTCCCTTCTCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCTTTCCCTTACC CTTCCCTTTCCCTTCCCCTTCTCTTTCCTTTCCCTTTCCCTTTCCATTTC CCTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCACTTTCC CTTCCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTC CCTTCCACTTCCCTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTT CCCTTCCCTTCCCCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTT CCCTTCCCTTTCCTTTTCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CCCTTCCCTTTCCCTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG02155.hp1 HG00609.hp1 HG00609.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0001t0029 a0001c0002t0052 a0001c0001t0021 a0001c0001t0029 a0001c0002t0052	a0001c0001t0021g0006 a0001c0001t0029g0083 a0001c0002t0052g0127 a0001c0001t0021g0006 a0001c0001t0029g0083 a0001c0002t0052g0127	3	148	0.0203	966	c.206 others(983): Show c.206-6246_206-6245insCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCCTTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCT TCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCT TCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCCTTCC CTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTTCCCCTTCT CTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTTCCCTTTCC CTTCCTTTTCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCC CCTTCCCCTCCCCCTTCCCTTCCCCTTCCCCTTCCCTTTACCTTCCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCTCCTT CCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTTCCCTTCCCTTC CCTTTCCCTTCCCCTCCCCTTCCCTTTCCCTTACCCTTCCCTTTCCCTTC CCCTTCTCTTTCCTTTCCCTTTCCCTTTCCATTTCCCTTCCCTTCCCTTC CCCTTCCCTTCCCTTTCCCTTCCCCTTCACTTTCCCTTCCCCTTCCCTTC CCTTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTT TCCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCT TCCCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTT TTCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTTCCCT TCCCCTTTCCCTTCCTCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCGCC TTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
RPH3AL_chr17_207389_357807	304024	A A	ATGGGGAG others(959): Show ATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTG ACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTT TAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAG GGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAG GAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTG GGCAGTGACCGTGTTTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGAAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAG TGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGG AGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTC AGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTAT TGGGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTA CTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGTGG GGCAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACC GTGTCTCAGGAAAGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0029 a0012c0022t0029	a0012c0022t0029g0103 a0012c0022t0029g0103	1	133	0.0075	966	c.351 others(985): Show c.351+15395_351+15396insCCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTGCCCCACTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCCCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCCCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTTCCTCC CTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCT TTCCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCACCTCTTTCCTGAAACACGGTCACTGCCCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCA ATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304067	A A	AGCAGTGA others(959): Show AGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGAAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGG AGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTC AGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTAT TGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTA CTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATG GGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACC GTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAA TAATTATTGAGCAGTGACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGAA GGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTTTCAGGAA AGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGC AGTGACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAG GTTTTAATAATTATTGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	133	0.0075	966	c.351 others(985): Show c.351+15352_351+15353insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAAACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAAA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTTCCTCCCT CCCCATCTCTTTCCTGAAACACGGTCACTGCTCAATAATTATTAAAACCT CAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA CCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTTCCTCC CTCCCCATCTCTTTCCTGAAACACGGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(959): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGG TGGTGGTGATGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGATG ATGGTGATGGTGGTGATGGTGATGCTGATGGTGGTGGTGATGATGGTGAT GGTGAGGATGGTGGTGATGGTGGTCATGATGGTGATGATGGTGGTGATGA TGATGGTGATGGTGGTGGTGATGGTGATGGTAGTGATGATGGAGGTGACG GTGATGGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGATGCTGGTGGTGATGATGGTGATGGTGATGATGA TGGTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTGATG GTGATGATGGTGATGGTAGTGATGATGGTGGTGGTGGTGATGGTGGTCAT GATGGTGATGGTGGTGATGATGGTGGTGACGGTGGTGGTGGTGATGGTGA CGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGTGGTG ATGGTGATGATGATGGTGATGGCGGTGGTGGTGATGGTGATGGTGGTGAT GACGGTGGTGATGGTGATGGTGGCAATGGTGATGATGTGATGATGGTGGT GGTGATGATAGTGATGGCGATGATGTGGTGATGGTGGTGGTGGTGGTGAT GGCGATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGAT GGTGGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGT GATGGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGAT GGTGATGGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG02257.hp1 others(1): Show HG01074.hp2 HG01167.hp1 HG02257.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0002t0001g0001 a0001c0001t0001g0008 a0001c0002t0001g0001	4	412	0.0097	966	c.-48 others(977): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGA TGGTGGTGATGATGGTGGTGGTGATGGTGATGGTGACGATGGTGGTGATG GTGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGCTGATGGTGGT GGTGATGATGGTGATGGTGAGGATGGTGGTGATGGTGGTCATGATGGTGA TGATGGTGGTGATGATGATGGTGATGGTGGTGGTGATGGTGATGGTAGTG ATGATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGATGGTGGT GGTGGTGGTGATGGTGATGGTGGTGATGGTGATGCTGGTGGTGATGATGG TGATGGTGATGATGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTG ATGATGGTGGTGATGGTGATGATGGTGATGGTAGTGATGATGGTGGTGGT GGTGATGGTGGTCATGATGGTGATGGTGGTGATGATGGTGGTGACGGTGG TGGTGGTGATGGTGACGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTG ATGATGGTGGTGGTGATGGTGATGATGATGGTGATGGCGGTGGTGGTGAT GGTGATGGTGGTGATGACGGTGGTGATGGTGATGGTGGCAATGGTGATGA TGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGGTGATGGT GGTGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGG CGATGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGAT GGTGGTGGTGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGAT GATAGTGATGGCGATGGTGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(959): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCACAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCAC CCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCG CAGACGCCCGAATCCTCACCCCGCAGACGCCCGAATCCCCACCCCACAGA CGCCCGAATCCCCACCCCACAGACGCCCGAATCCTCACCCCACAGACGCC CGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGCCCGAA TCCTCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCTC CACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACC CCACAGACGCCCGAATCCTCACCCCACAGACGCCCGAATCCCCACCCCAC AGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGAC GCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCC GAATCCCCACCCCACAGACGCCCGAATCTCCACCCCGCAGACGCCCGAAT CCCCACCCCGCAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCC ACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCTCACCC CACAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCA GACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACG CCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0153 a0002c0005t0002g0153	1	218	0.0046	966	c.212 others(985): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGAGGA TTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGTGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCG TCTGCGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTG TGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGG GTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGG GGATTCGGGCGTCTGTGGGGTGAGGATTCGGGCGTCTGTGGGGTGGGGAT TCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGAGATTCGG GCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGAGGATTCGGGCGT CTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGT GGGGTGAGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGG TGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTGGG GATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATT CGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGG CGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTC TGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTG GGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGT GGGGATTCGGGCGTCTGCAGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(959): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATACATATATATAAATATATATAAATATATATACATATATAAATATATAA AAAATATATAAATATATAAAAAATATATAAATATATAAAAATATATATAA ATATATATAAATATATATACATATATATACATATATATAAATATATAAAA ATATATAAATATATATAAATATAAATATATACAAATATATATATAAATAT GTATAAATATATAAAAATATATATATAAATATATAAAAATATATATATTA ATATATAAAAATATATATATTAATATATAAAAATATATATAAATATATAT ATAAATATATATATATAAATATATATAAAAATATATATAAAAATATATAT AAATATATATATAAATATATATAAATATATATAAATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATATAAATATATATAAAC ATATATAAATATATATAAAAATATATATAAATATATATAAATATATATAA ATATATATAAAAATATATATAAATATATATATAAATATATATAAATATAT ATATAAATATATATAAATATATATAAATATATAAAAAATATATATAAATA TATATATATAAATATATATAAATATATAAAAAAAATATATATAAATATAT ATAAATATATTTATATATATAAATATATTTATATATAAATATAAATATAT ATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	3	186	0.0161	966	c.-50 others(977): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATACATATATATAAATATATATAAATATATATACA TATATAAATATATAAAAAATATATAAATATATAAAAAATATATAAATATA TAAAAATATATATAAATATATATAAATATATATACATATATATACATATA TATAAATATATAAAAATATATAAATATATATAAATATAAATATATACAAA TATATATATAAATATGTATAAATATATAAAAATATATATATAAATATATA AAAATATATATATTAATATATAAAAATATATATATTAATATATAAAAATA TATATAAATATATATATAAATATATATATATAAATATATATAAAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAACATATATAAATATATATAAAAATATATATAAATATA TATAAATATATATAAATATATATAAAAATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA AAATATATATAAATATATATATATAAATATATATAAATATATAAAAAAAA TATATATAAATATATATAAATATATTTATATATATAAATATATTTATATA TAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(959): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATAATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTTATATAACTATATATTATATATAAAAAT ATATTATATATTATATAACTATATATTATATATATATATTATATATTATA TAACTATATATTATATATATATTATATATTATATACTATATATTATATAT ATTATATATATATATATATATTATATATTATATATATTATATATTTATAT AACTATATATTATATATATATATATATATTATATATTATATAACTATATA TTTTATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATTTAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATATATATTATATATTATATAACTATATATTATATATATATATT ATATATTATATAACATATATTATATATATATATATTATATATTATATAAC TATATTTATATATATATATTATATATTATATAACTATATATTATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATATAATATATATATTATTATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACATATATTATATAATATATATATATTAT ATAACTATATCTTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	268	0.0037	966	c.73 others(977): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATAATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTTATATAACTATAT ATTATATATAAAAATATATTATATATTATATAACTATATATTATATATAT ATATTATATATTATATAACTATATATTATATATATATTATATATTATATA CTATATATTATATATATTATATATATATATATATATTATATATTATATAT ATTATATATTTATATAACTATATATTATATATATATATATATATTATATA TTATATAACTATATATTTTATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATTTAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATATATATTATATATTATATAACTATATA TTATATATATATATTATATATTATATAACATATATTATATATATATATAT TATATATTATATAACTATATTTATATATATATATTATATATTATATAACT ATATATTATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATATAATATATATATTATTATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACATATATTATATA ATATATATATATTATATAACTATATCTTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
THEG_chr19_356747_381026	377214	G G	GCCCCACC others(959): Show GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC CCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAG CCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0106 a0001c0001t0016g0106	1	370	0.0027	966	c.-12 others(977): Show c.-1245_-1244insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGAGGG GGAGAGGCTGGGTGGGGCACGGAGGGGGAGAGGCTGGGTGGGGCACGGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTG GGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1189		chr19	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(959): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0390 a0003c0003t0001g0390	1	444	0.0023	966	c.227 others(985): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(959): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0206 a0005c0004t0001g0206	1	444	0.0023	966	c.227 others(985): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115870	G G	AGCGAAGG others(959): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGA GTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCAC AGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0352 a0003c0003t0003g0352	1	444	0.0023	966	c.227 others(985): Show c.2277+1399_2277+1400insCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCT CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(959): Show TCACCATCATCACCACCACCACCACCACCACTACCACTACCATCATAATT ACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCAC CACCACCACCACTAGCACAACCACAACACTACCACATCACCACCACCACT ACCACTACTACCATCACCATCACCACCACCATCACCACCACCACCACAAT ACTACCACATCACCACCACGATCACCATCATCACCACCACCACCACCACT AGCACAACCACAACACTACCACATCACCACCACCACTACCACCACCACCA CCATCACTACTACCATCACCACCACCACCACCATCACCACCACCACGACC ACCACAACACTACCACATCACCACCACCACCATCATCATCACCACCACTA CCACCACCACTACCACCACCACCACCATCACTACTACCATCACCACCACC ACCACCATCACCACCACCACGACCACCACAACACTACCACATCACCACCA CCACCATCACCACTGCCACCACCACTACCACCACCACCACTACCACCATC GCCACCATCACCACCACATCACCACCACCACCACACTACCACCACCACCA CCATCACCACTACTACCATCACCACTACTACCACCACCACCATCACAATC ACCACTATCACCATCATCACCATCACTACCACCACCACCATCACCATCAT CGCCACCACCACCAACACTACTGCCACCACCACTATTACCATCACCACCA CTACTACCACCACCACTACCATAACCACCATCATCACCATCACCATCATT ACTGCTATTATGACCACCATCACTACCACCATTATCACCACCACCACTAA ACTACCACCACTACCTCACTGCCATCATCACCATCACCATTACTAACATC ACCATTACTAACATCACCATTATAATACTACCACCATCACTACCACCACC ACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	966	c.24 others(977): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGCGATGATGGTGATGGTGGT GGTGGTAGTGATGGTGATGATGGTGATAGTGGTGATTGTGATGGTGGTGG TGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTG TGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGG TGGTGGTAGTGGTGGTGGCAGTGGTGATGGTGGTGGTGGTGATGTGGTAG TGTTGTGGTGGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAG TAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATG ATGGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGTGGTGGTGGTAGTG GTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGG TGATGATGGTGATCGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGGT GATGGTGGTGGTGATGGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGT GGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGT GATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTATGATGGTAGTGG TAGTGGTGGTGGTGGTGGTGGTGATGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
WDR7_chr18_56646359_57034792	57024649	A A	AATTTCAC others(959): Show AATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTAT AGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTA TGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGG AATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGT CCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATG TGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTC AGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGAT TTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATA GTTATGTCCCTTACAGG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	144	0.0069	966	c.427 others(985): Show c.4270-2290_4270-2289insTAGAATTTCACATATCCCTATTCTCA GGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTA CAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCT ATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAG GAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACA TATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATG TCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATAT GTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCT CAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGAT AGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATA GGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCC CTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCT TACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAG CTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGAC AGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZSCAN22_chr19_58321994_58347332	58326617	T T	TCTCACAC others(959): Show TCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACAC AGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGG CACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCAC CCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCC CTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTC ACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCA CCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGC CCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCTC ACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCC AACCCCATCCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAG CCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGCCCTCACA CAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCCTCACACAG CCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCA CCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGC CCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCTC ACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCC AACCCCATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCAC CCTCAGCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCT CAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCA CACAGCCAACCCCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01070.hp2 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0025 a0001c0001t0016g0070 a0001c0001t0001g0025 a0001c0001t0016g0070	2	400	0.0050	966	c.-54 others(975): Show c.-549_-548insCTCACACAGGCACCCTCAGCCCTCACACAGCCAACC CCATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTC AGCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGC CTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACA GCCAACCCCATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCT CACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGC TCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACAC AGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGG CACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAG CCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGCTCTCACA CAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACC CTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTC AGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGC TCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACAC AGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGG CACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAG CCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGCCCTCACA CAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCCTCACACAG CCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCA CCCTCAGCCCTCACACAGCCAACCCCATCC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		376		chr19	TogoVar
ADAMTS17_chr15_99966437_100346975	100276332	G G	GGGTGGGA others(960): Show GGGTGGGAGGGAGTGGGTACCTGGTGGGAGGGTGGGAGGGAGTGGGTGCC TGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGAAGGGAG TGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGGGTGCCTGGTGGGAGGGAG TGGGTGCCTGGCGGGAGGGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTG GGAGGGAGTGGGTGCCTGGCGGGAAGGTGGGAGGGTGTGGGTGCCTGGCG GGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGT GCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGG GTGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGG GTGGCAGAGAGTGGGTGCCTGGTGGGAGGGTGGAAGGGAGTGGGTGCCTG GTGGGAGGGTGTGGGTGCCTGGTGGGAGGGAGTGGGTGCCTGGTGGGAGA GTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGGGTGCCTG GTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGCAGAGAGTG GGTGCCTGGTGGGAGGGTGGAAGGGAGTGGGTGCCTGGTGGGAGGGTGTG GGTGCCTGGTGGGAGGGAGTGGGTGCCTGGTGGGAGAGTGGGAGGGAGTG GGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGG AGGGAGTGGGTGCCTGGCGGGAAGGTGGGAGGGTGTGGGTGCCTGGCGGG AGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGC CTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGA GTGGGTGCCTGGTGGGAGGGTGGCAGAGAGTGGGTGCCTGGTGGGAGGGT GGAAGGGAGTGGGTGCCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04199.hp2 HG04115.hp2 HG04199.hp2	a0002 a0007 a0002 a0007	a0002c0069 a0007c0023 a0002c0069 a0007c0023	a0002c0069t0013 a0007c0023t0026 a0002c0069t0013 a0007c0023t0026	a0002c0069t0013g0032 a0007c0023t0026g0031 a0002c0069t0013g0032 a0007c0023t0026g0031	2	228	0.0088	967	c.789 others(984): Show c.789+4896_789+4897insAGGCACCCACTCCCTTCCACCCTCCCAC CAGGCACCCACTCTCTGCCACCCTCCCACCAGGCACCCACTCCCTCCCAC CCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTC CCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGC ACCCACACCCTCCCACCTTCCCGCCAGGCACCCACTCCCTCCCACCCTCC CGCCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTCC CACTCTCCCACCAGGCACCCACTCCCTCCCACCAGGCACCCACACCCTCC CACCAGGCACCCACTCCCTTCCACCCTCCCACCAGGCACCCACTCTCTGC CACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCA CACCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCACTCTCCCACCA GGCACCCACTCCCTCCCACCAGGCACCCACACCCTCCCACCAGGCACCCA CTCCCTTCCACCCTCCCACCAGGCACCCACTCTCTGCCACCCTCCCACCA GGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACACCCTCCCACCC TCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCC TCCCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGCAC CCACACCCTCCCACCTTCCCGCCAGGCACCCACTCCCTCCCACCCTCCCG CCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGCACCCACTCCCTCCCA CCAGGCACCCACACCCTCCCACCCTCCCACCAGGCACCCACTCCCTTCCA CCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACT CCCTCCCACCCTCCCACCAGGTACCCACTCCCTCCCACC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACGG others(960): Show CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGACACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACC TGCCCGCCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGAC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCC CTCCAGACAACCTGCCCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	368	0.0027	967	c.401 others(984): Show c.401+8833_401+8834insACCACGGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCC ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCCCCAGACA ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCTCCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATC CCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCT GCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ALDH16A1_chr19_49448225_49476050	49461400	T T	TCTGGACT others(960): Show TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGCGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGG GACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGAGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGC TGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0057 a0002c0007t0003g0057	1	342	0.0029	967	c.578 others(982): Show c.578-187_578-186insAGGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGG ACTCCTGGGTCTGAGGGAGGAAGGGCTGGGCGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCT GGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGCCTGGACTC CTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49461400	T T	TCTGGACT others(960): Show TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGCGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGG GACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGC TGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0058 a0002c0007t0003g0058	1	342	0.0029	967	c.578 others(982): Show c.578-187_578-186insAGGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGG ACTCCTGGGTCTGAGGGAGGAAGGGCTGGGCGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCT GGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(960): Show TCTCTCCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCT CTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCC CTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTC TCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCCTCCCCCTTCCCCTCTCCC CCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCC CCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCC CCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCT ACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCG TCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCT CCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCC CCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTC CTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCC CCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTC TCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCT CTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCC CCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCC CCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0275 a0001c0001t0004g0275	1	320	0.0031	967	c.380 others(984): Show c.380-7767_380-7766insCCCCCCTCTCTCCCTCTCCCTCACCTCC TCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCC ATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCCTCC CCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCA CATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTT CCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTC CCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTC TCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTC CTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCC CCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCC TCTCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTC CCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACC CTCTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTC TCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCT CTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCC CTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(960): Show TCTCTCCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCT CTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCTCTCCCCCTC TCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCC CTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCC CTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCC TCTCTCTCTCCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCC CCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCACCCCTCTCCCTCTC TACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTC GTCCTCTCTCTCTCCCCCTCTCCCCCCTCTCCCTCTCCTCCTGTCCCTCT CTCCCTCTCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTC CCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCTGCCTCTCCTC CTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCC CCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTC TCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCT CTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCC CCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCC CCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	320	0.0031	967	c.380 others(984): Show c.380-7767_380-7766insCCCCCCTCTCTCCCTCTCCCTCACCTCC TCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCCCTCCCCCTCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCTCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCC CCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCAC ATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CTCTCCCTCACGTCCTCTCTCTCTCCCCCCCTCCCCCTCCCTCTCCCCTT CCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTC ACCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCT CTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCCTCTCCCTC TCCTCCTGTCCCTCTCTCCCTCTCCCCTCCTCCTCTCCCTCTCCCCCTCC CCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTC CCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACC CTCTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTC TCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCT CTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCC CTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(960): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTCT CCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCT CCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCT CCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCC CTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCT CTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCC CTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTCTCC CTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCCCTC TCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCT CTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCC CCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTCCCT CTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCC CCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCC CCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG01261.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	320	0.0063	967	c.380 others(984): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTC ACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCC TCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTC ACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCC TCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCC TCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCC TCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCC TCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCT CCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCT CTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTC CCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCC CTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCC TCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCT CTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCC CTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(960): Show TCTCTCCCCCCTTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCCTCCCCCTTCCCCTCTCCCC CTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCC CTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCC TCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCC CCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCT ACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCG TCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCT CCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCC CCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTC CTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCC CCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTC TCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCT CTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCC CCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCC CCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	320	0.0031	967	c.380 others(984): Show c.380-7767_380-7766insCCCCTTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCCTCCC CCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCAC ATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTC CTCTCCCCCTCTCCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTC CCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTC TCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTC CTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCC CCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCC TCTCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTC CCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACC CTCTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTC TCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCT CTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCC CTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(960): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGTCAGGGCGGGGGGTGCAGTTTA TAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTGATAGATGATATGGGG GTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGC GGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGC GGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGC AGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAA TATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGG CAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTT GTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGG GGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0017 a0001c0008t0003g0017	1	272	0.0037	967	c.109 others(986): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGTCAGGGCGGG GGGTGCAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTGATA GATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTG GGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGA TAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGG GTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTA CTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAAT ATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCA GGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTA TAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(960): Show GGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGA GACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGC AGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCCAGAGGAAGACGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0262 a0001c0002t0004g0262	1	324	0.0031	967	c.340 others(984): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCGGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCG GAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	1164157	C C	CCCCCCAG others(960): Show CCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGT CCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTGTGAGCCCCCC AGGGTTTGTTTTGGTTTGTGCGGATAGATTTTTCTGTGAGCCCCCAGGGC CCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCA TTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCAGGGCCCATCGTT TTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCGTTTTGGTT TGTGGGGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTG GGGATTTTTCTGTGAGCCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGA CAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGA CAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGA CAGATTTTTCTGTGAGCCCGCAGGGCCCGTCATTTTGGTTTGTGGGGATT TTTCTGTGAGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTG TGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTG AGTCCCCAGGGCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCC CAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGC CCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCTGTC GTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCCCAGGGCCCCTC GTTTTGGTTTGTGGGGACTGATTGTGAGCCCCCCAGGGTTTGTTTTGGTT TGTGCGGATAGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTG TGGGGATTTTTCTGTGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	40	0.0250	967	c.74- others(984): Show c.74-94683_74-94682insTGTCGTTTTGGTTTGTGGGGACAGATTT TTCTGTGAGTCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTG TGAGCCCCCCAGGGTTTGTTTTGGTTTGTGCGGATAGATTTTTCTGTGAG CCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCA GGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCAGG GCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGT CGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTT TTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCCAGGGCCTGTCGTTTTGG TTTGTGGGGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGG TTTGTGGGGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGG TTTGTGGGGACAGATTTTTCTGTGAGCCCGCAGGGCCCGTCATTTTGGTT TGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGG GATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGA TTTTTCTGTGAGTCCCCAGGGCCCATCGTTTTGGTTTGTGGGGATTTTTC TGTGAGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAG CCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCC AGGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCCC AGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTGTGAGCCCCCCAGGGTT TGTTTTGGTTTGTGCGGATAGATTTTTCTGTGAGCCCCCAGGGCCCGTCA TTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAT3_chr11_92219818_92901473	92705593	T T	TGTGGTGT others(960): Show TGTGGTGTGATGGTGGTGGTGTGATGGTGGTAGTGATGGTGGTGGTGATG GTGGGTGATGGTAGTGGTGTGATGGTGGTGGTGATGGTGGGTGGTGGTGT GATGGTGGTGGTGATGGTGGTGGTGGTTATGGTGGTGGTGATGGTGACGT GATGGTGGTGAAGGTGGTGGTGTGTTGGTGGTGGTGTGATGGTGGTGTTG GTGGTGGTGTGATGGTGACGTGATGGTGGTGGTGGTGATGGTGGTGGTGT GATGGTGGTGGTGGTGTGATGGTGGTGGTGGTGTGATGGTGGTGATGGTG GTGGTGTGATGGTGGTGGTGGTGTGATGGTGGTGATGGTGGTGGTGTGAT GGTGGTGTTGATGGTGTTGGTGTGATGATGGTGGTGTGATGGTGGTAGTG ATGGTGGTGGTGTGATGGTGGTGTGATGGTGGTGGTGATGGTGGTGGTGT GATGGTGGTGATGGTGTGTTGGTGGTGTGATGATGGTGGTGTGATGGTGG TGTTATGATGGTGGTGTGATGGTGGTTGTGATGGTGGTGGTGTGATGGTG GTGGTGTGATGGTGTGATGATCATGGTCATGTGATGGTGGTGTGATGGTG GTGGTGTGATGGTGGTGGTGGTGGTGTGATGGTGGTGGTGGTGTGATGGT GGTGGTGGTGTTGGTGGTAGTGTGATGGTGGTGTGATGGTGGTGGTGGTG TGATGGTGGTGGTGTGATGGTGGTGGTGGTGGTGGTGTGATGATGGTGGT GGTGGTGGTGTGATGGTGGTGATGGTGGTGGTGTGATGATGGTGGTATTG GTGGTAGTGTGTTGGTGGTGGTGATGGTGGTGGTGTGATGATGGTGTGTT GGTGGTGGTGATGGTGGTGGTGTGATGGTGCTGTGATGGTGTGATGGTGG TGGTGTGATGGTGTTTGTGGTGGTGGTGTTATGGTGGTGGTGGTGGTGGT GGTGTGATGGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp2 HG02622.hp1 HG02976.hp2	a0024 a0032 a0024 a0032	a0024c0037 a0032c0083 a0024c0037 a0032c0083	a0024c0037t0056 a0032c0083t0072 a0024c0037t0056 a0032c0083t0072	a0024c0037t0056g0100 a0032c0083t0072g0013 a0024c0037t0056g0100 a0032c0083t0072g0013	2	118	0.0170	967	c.366 others(986): Show c.3669+8154_3669+8155insTGATGGTGGTGGTGTGATGGTGGTAG TGATGGTGGTGGTGATGGTGGGTGATGGTAGTGGTGTGATGGTGGTGGTG ATGGTGGGTGGTGGTGTGATGGTGGTGGTGATGGTGGTGGTGGTTATGGT GGTGGTGATGGTGACGTGATGGTGGTGAAGGTGGTGGTGTGTTGGTGGTG GTGTGATGGTGGTGTTGGTGGTGGTGTGATGGTGACGTGATGGTGGTGGT GGTGATGGTGGTGGTGTGATGGTGGTGGTGGTGTGATGGTGGTGGTGGTG TGATGGTGGTGATGGTGGTGGTGTGATGGTGGTGGTGGTGTGATGGTGGT GATGGTGGTGGTGTGATGGTGGTGTTGATGGTGTTGGTGTGATGATGGTG GTGTGATGGTGGTAGTGATGGTGGTGGTGTGATGGTGGTGTGATGGTGGT GGTGATGGTGGTGGTGTGATGGTGGTGATGGTGTGTTGGTGGTGTGATGA TGGTGGTGTGATGGTGGTGTTATGATGGTGGTGTGATGGTGGTTGTGATG GTGGTGGTGTGATGGTGGTGGTGTGATGGTGTGATGATCATGGTCATGTG ATGGTGGTGTGATGGTGGTGGTGTGATGGTGGTGGTGGTGGTGTGATGGT GGTGGTGGTGTGATGGTGGTGGTGGTGTTGGTGGTAGTGTGATGGTGGTG TGATGGTGGTGGTGGTGTGATGGTGGTGGTGTGATGGTGGTGGTGGTGGT GGTGTGATGATGGTGGTGGTGGTGGTGTGATGGTGGTGATGGTGGTGGTG TGATGATGGTGGTATTGGTGGTAGTGTGTTGGTGGTGGTGATGGTGGTGG TGTGATGATGGTGTGTTGGTGGTGGTGATGGTGGTGGTGTGATGGTGCTG TGATGGTGTGATGGTGGTGGTGTGATGGTGTTTGTGGTGGTGGTGTTATG GTGGTGGTGGTGGTGGTGGTGTGATGGTGGTGGTGGTGGTG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
GCAT_chr22_37802934_37821897	37817170	C C	CGAAATTA others(960): Show CGAAATTAGCCAGGCGTTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGACAGCCCCCCCGCCCAGCCAG CCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGG GAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGG GCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCC ATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAA AAAATTGAGAAATCGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACA TGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGG GATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACAT GTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGC TTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCA CTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAGGC CGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTAT CTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTC TGCGAGAAACACCCAAGAATGATCAATTAAAAAAAAAATTAATTAATTAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0061 a0003c0005t0002g0061	1	390	0.0026	967	c.45 others(976): Show c.452_*453insGAAATTAGCCAGGCGTTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGACAGCCCC CCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGG CCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT CCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATC CGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCA TTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGG GAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTCTGTGG ATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAAT TCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTG CTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCG GTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTA AGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGC GGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTG TTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTG CCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATTAAAAAAAAA ATTAATTAATTAAAAAAAAAAAAAAAAAAAA	GCAT	ENSG00000100116.17	transcript	ENST00000248924.11	protein_coding		274		chr22	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(960): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATATAATATATAATATATATATTATATAAAATATATA ATATATATCTTATATATATCATATATTTTATATAATATATATTTTATATA TATCATATATTTTATATATAATATATATTATATATACATTATATAATATA TATTATATTATATATATTATATATTATATAATATATATTATATATTATAC GTAATATATAATGTATATTATATATAATATATTATGTATATAATGTATAT TATATGTAATATACATTATATATAATGTATATTATATATAATATACATTG TATATAATGTATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTGTATATAATGTATATATTACATATAATATACATTA TATATAATGTATATTATATGTAATATATACATTATATACAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATATAATGTATATTATATGTAATATATACATTACATATAATGTATAT TATATGTAATATATACATTACATATAATGTATATTATATGTAATATATAC ATTACATATAATGTATATTATATGTAATATATACATTACATAATGTATAT TATATGTAATATATACATTACATAATGTATATTATATGTAATATATACAT TACATAATGTATATTATATGTAATATATACATTATATAATATATACATTG TATATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA TATATAATATATACATTGTATATAATGTATATTATATATAATATATACAT TGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	350	0.0029	967	c.94- others(980): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATATAATATATAATATATAT ATTATATAAAATATATAATATATATCTTATATATATCATATATTTTATAT AATATATATTTTATATATATCATATATTTTATATATAATATATATTATAT ATACATTATATAATATATATTATATTATATATATTATATATTATATAATA TATATTATATATTATACGTAATATATAATGTATATTATATATAATATATT ATGTATATAATGTATATTATATGTAATATACATTATATATAATGTATATT ATATATAATATACATTGTATATAATGTATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTGTATATAATGTATATATT ACATATAATATACATTATATATAATGTATATTATATGTAATATATACATT ATATACAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATATAATGTATATTATATGTAATATATACA TTACATATAATGTATATTATATGTAATATATACATTACATATAATGTATA TTATATGTAATATATACATTACATATAATGTATATTATATGTAATATATA CATTACATAATGTATATTATATGTAATATATACATTACATAATGTATATT ATATGTAATATATACATTACATAATGTATATTATATGTAATATATACATT ATATAATATATACATTGTATATAATGTATATTATATATAATATATACATT GTATATAATGTATATTATATATAATATATACATTGTATATAATGTATATT ATATATAATATATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
LINGO2_chr9_27932617_29218601	28189685	G G	GAGGGAGG others(960): Show GAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGAA GGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAGGAAGGAAGGGAGGAAG GAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGG AGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAG GAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGG AGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAG GAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGAAAGGA AGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAG GAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGA AGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAG GAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGA AGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAG GGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGAAAGGAAGGAAGGA AGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAG GGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGA AGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAG GAAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	62	0.0161	967	c.-36 others(988): Show c.-36+105522_-36+105523insTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTC CTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCT TCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTT CTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCT TCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCT CCCTTCCTTCCTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCC TCCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTC CCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
MAD1L1_chr7_1810795_2237945	1930516	C C	CCCCCACT others(960): Show CCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCC CTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACG TCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGC CACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCA CTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCACTGCCACGTCCCCTCATCCCGTCCCCAC TGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCATC CCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGT CCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCC ACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCA CTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGT CCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCAT CCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCC TCGCCCCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACA TCCCACCACCACGTCCACACTGCCATGTCCCCTCGCCCCATCCCCCTGCC ACGTCCACTTACCCCATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	264	0.0038	967	c.180 others(986): Show c.1807+6170_1807+6171insTATGGGGTAAGTGGACGTGGCAGGGG GATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATGTGGCAG TAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGGCGAGGGGACGT GGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGATGAGGGG ACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACGGGATG AGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACG GGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGG GGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCA GTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACG TGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGATGAGGG GACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGAC GGGATGAGGGGACGTGGCAGTGGGGACGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGG GACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAG TGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTG GCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(960): Show TGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTC GCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCCTCGCCCCGTCCCCACTGCCA CGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACT GCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCC CACTGCCACGTCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCAC GTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACT GCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCATCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTC GCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCC CCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCA CGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCAC TGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCAC CACCACGTCCACACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCC ACTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	264	0.0038	967	c.180 others(986): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGTGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGAT GAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGAC GGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTG GGGACGGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACGGGGCGAG GGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGA TGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGT GGGGACGGGATGAGGGGACGTGGCAGTGGGGACGTGGCAGTGGGGACGGG GCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(960): Show GCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCTCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTC CCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTC CCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTC CCCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCC TCCCTTCCCCTCCCCTCCCTTCCTCCCGCCTCCCCTTCCCCCCTCCCCTC CCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCT CCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0212 a0001c0004t0003g0212	1	278	0.0036	967	c.115 others(984): Show c.1157+156_1157+157insCCCTCCCCTCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCC CTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCC CTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCTTCCCCTCCCCTC CCCTCCCTTCCCCTCCCCTCCCTTCCTCCCGCCTCCCCTTCCCCCCTCCC CTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTC CATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTT CGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCC CTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCC CCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar

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