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
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(660): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTC TCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTC CCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCTCCTCCCTCTCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCTCTCC CCTCCCTCCCCCTCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCT CCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCATCCCCTCCCTCCCCT CCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	4	0.2500	667	c.114 others(686): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCT CCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCG TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCTCCCTC TCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCTCCCCCTCTCCCCTCCCTCCCCCTCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCTCCTCCTCCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCCATCCCCTCCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(660): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCC CTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC TCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCT CCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	4	0.2500	667	c.114 others(686): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCTCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(660): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCC CTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCT CCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCT CCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	4	0.2500	667	c.114 others(686): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTC CCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(660): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCC GTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCC CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTTCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCT CCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0094 a0012c0022t0001g0094	1	4	0.2500	667	c.114 others(686): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCTCCCGTC TCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCT CCCCTCCCCTCCTCCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTTCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(660): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGAGTGCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0271 a0001c0005t0001g0271	1	206	0.0049	667	c.140 others(684): Show c.140+8514_140+8515insTGCACTCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(660): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0317 a0001c0014t0003g0317	1	237	0.0042	667	c.140 others(684): Show c.140+8240_140+8241insCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGC ACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCC TGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(660): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCC CTTCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTC CCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0240 a0001c0001t0021g0240	1	206	0.0049	667	c.433 others(684): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGAAGGGGGAGGGGG AGGGGAGGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGG AGGGGGAAGGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(660): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCA CCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTC CCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCC CTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCT CCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0187 a0001c0001t0112g0187	1	30	0.0333	667	c.433 others(684): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGTGGGAGGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCA others(660): Show CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTG CCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGC CCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGAC CCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCTGG CCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGA CCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAG ATACGGACCCCCTCCACCCACTGCCCAGATACGGACCTGGCCACCCACTG CCCAGATACGGACCCGGCCACCCACTGCCCAGATACGGACCCCCCCCCGC CCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	177	0.0056	667	c.471 others(682): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCC CCTCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACG GACCCGGCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTG CCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACC CACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCC CCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACG GACCCGGCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCA GATACGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCC ACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACC TGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACG GACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(660): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGCTATCTAGAGAT ATCTATAGATTAGATATCTGTGATATCTAGAGATATCTATAGATTGGATA TCTATATCTAGAGATATCTATAGATTGGATATCTATGATATCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATGT CTATGATATCTAGAGATATCTATAGATTAGATAGATATCTAGAGATATCT ATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTATGATA TCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATA GATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGA TATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCTA TAGATTAGATATCTATATCTAGAGATGTCTATAGATTAGATATCTATGAT ATCTAGAGATGTCTATAGATTAGATATCTATGATGTCTAGAGATTTCTAT AGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATATCTATG ATATCTCGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0122 a0003c0003t0002g0122	1	221	0.0045	667	c.176 others(686): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGATA TCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGAAAT CTCTAGACATCATAGATATCTAATCTATAGACATCTCTAGATATCATAGA TATCTAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGAT ATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATA TCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAG ATATCTAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCT CTAGATATCTATCTAATCTATAGATATCTCTAGATATCATAGACATCTAA TCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTA GATATCATAGATATCCAATCTATAGATATCTCTAGATATAGATATCCAAT CTATAGATATCTCTAGATATCACAGATATCTAATCTATAGATATCTCTAG ATAGCATAGATATCTAATCTATAGATATCTCTAGATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(660): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACC CCTGCACACACCTGCGTCACCTCCCTACCCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	196	0.0051	667	c.106 others(684): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCTGCACACACCTGCGTCACCTCCCTACC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(660): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCACCATCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCAC CACCACCATCACCACCACCATCACCATCACCATCACCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCATCATCACCATCACCACC AGCACCACCACCAACATCATCATCATCACCATCACCACCACCATCACCAC CACCACCACCATCAACACCACCATCACCACCACCATCATCATCACCACCA CCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0014 a0014	a0014c0059 a0014c0059	a0014c0059t0004 a0014c0059t0004	a0014c0059t0004g0026 a0014c0059t0004g0026	1	140	0.0071	667	c.48 others(678): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGGTGGT GATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGA TGGTGATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGG TGATGGTGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGT GGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGG TGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGA TGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGA TGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATG ATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(660): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCACCCCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0085 a0003c0004t0004g0085	1	24	0.0417	667	c.147 others(684): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACC CCCTCCCCGCACACCCCCACCCCCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(660): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGCAGAGAGGAGGGAAGGAAGGAAGGGCAGAGACGAGGGA AGGAAGGAAGGGCAGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGA AGGGGTGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGGAG AGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAA GGAAGGGGGGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGGAAGGAAGGGG GGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGG GAAGGAAGGGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGT GGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGG AGGAAAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGGAGGAAGG AAGGAAGGAAGCAAGCAAGCAAGCAAAGCTGCTCAGAAACTAACTTCAGG AAGAAGGGAGGGAAGCTAACTTCAGAAGCTAACTTCAGGAGGGAGGGAAG GAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGG AGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0025 a0002c0001t0025	a0002c0001t0025g0002 a0002c0001t0025g0002	1	16	0.0625	667	c.88+ others(686): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGTTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCC CCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCT TTCCTCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCT CCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCC TTCCCTCCTCTCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCC TCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCT TCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCC TCCTCTCACCCCTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTTCCCTCGT CTCTGCCCTTCCTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTCCCCTCCC TCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(660): Show TATATTATGGATAATATAATATAATATATTATATTATCGATAATATAATA TCTTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATGGATAATATATTATATTATGGATAATATATTATGGATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATAATATATTATATTATGGAT AATATAATATAATATATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02738.hp2 HG02055.hp2 HG02738.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0008 a0004c0010t0033 a0001c0001t0008 a0004c0010t0033	a0001c0001t0008g0032 a0004c0010t0033g0018 a0001c0001t0008g0032 a0004c0010t0033g0018	2	131	0.0153	667	c.389 others(688): Show c.389-154328_389-154327insATATATTATATTATCGATAATATA ATATCTTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATATTATGGATAATATATTATATTATGGATAATATATTATGGATAATATA TTATATTATGGATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATATAATATAATATATTATATTATG GATAATATAATATAATATATCATATTATGGATAATATAATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(660): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19009.hp2 NA19001.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0199 a0001c0001t0003g0134 a0001c0001t0001g0199 a0001c0001t0003g0134	2	130	0.0154	667	c.-75 others(686): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATAT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGGAC others(660): Show AGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCAAGAGGGGGACAGGGCG GGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGAC AGGGCGAGAGGGGGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGACAGG GCGAGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGGGGGACAGGGCGGCAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	20	0.0500	667	c.351 others(686): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTGCCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCT CTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGT CCCCCTCTTGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	356241	C C	CCACACAC others(660): Show CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	69	0.0145	667	c.-37 others(678): Show c.-3743_-3742insTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3435		chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(660): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAAGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	149	0.0067	667	c.-12 others(686): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCTTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(660): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	149	0.0067	667	c.-12 others(686): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(660): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(25): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01256.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG03239.hp1 HG04115.hp2 NA18945.hp1 NA18947.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA19080.hp2 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0036 a0002c0003 a0002c0008 a0003c0009 a0003c0042 a0007c0039	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0036t0001 a0002c0003t0001 a0002c0008t0001 a0003c0009t0001 a0003c0009t0003 a0003c0042t0001 a0007c0039t0001	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0047 others(25): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0002t0001g0004 a0001c0002t0001g0043 a0001c0002t0001g0050 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0005t0001g0056 a0001c0005t0001g0164 a0001c0036t0001g0054 a0002c0003t0001g0020 a0002c0008t0001g0052 a0003c0009t0001g0065 a0003c0009t0001g0170 a0003c0009t0001g0173 a0003c0009t0003g0172 a0003c0042t0001g0042 a0007c0039t0001g0053	28	176	0.1591	667	c.-12 others(686): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(660): Show CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCTCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0067 a0001c0001t0016g0067	1	40	0.0250	667	c.77- others(684): Show c.77-45377_77-45376insTCCCTCCCCTCCCCTCCCCTCCCCTACC TCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCC CCTCCCCCTCCCCTCCCCTCCCTCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTC CCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(660): Show CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCTCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	45	0.0222	667	c.22+ others(684): Show c.22+36334_22+36335insTCCCTCCCCTCCCCTCCCCTCCCCTACC TCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCC CCTCCCCCTCCCCTCCCCTCCCTCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTC CCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401878	G G	GGCCCCGC others(660): Show GGCCCCGCTCACACCCCGGCCCCGCTCACACACCCGCCCCGCTCACACCC GGCCCCCGCTCACACCCGACCCGCTCCCACCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCG CTCACACCCCGGCCCGCCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGG CCCCGCTCACACCCGCCCCGCTCACCCCCCGCTCACCCCCGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTCACCACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACACCCCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACGACCACCGCCCCGC TCACACCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCAGCCACCCCGCCCGC TCACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	182	0.0055	667	c.40 others(678): Show c.4017_*4018insGAGCGGGGCCGGGGGTGAGCGGGCGGGGTGGCTG GTGTGAGCGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGGCGGGGTGTGAGCGGGGCGGTGGTCGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGTGAGCGGGG CCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGGTGAGCGGGGCCGGGTGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGGT GAGCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG CCGGGGGGTGAGCGGGGGCGGGCCGGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGTGAGCGGGG CCGGGTGGGAGCGGGTCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCG GGTGTGTGAGCGGGGCCGGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3837		chr11	TogoVar
SLC19A1_chr21_45507565_45547440	45531241	A A	AGGGGGAG others(660): Show AGGGGGAGGTGGCGGGGAGCCTCCGGGGAAGGATCCACGGGGCAGGGGGA GGTGGCGGGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGG GCGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAAGGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGGAGCCTCCGGGGGAAGG ATCCACGGGGCAGGGGGCGGGGGAGGGGGAGCCTCCGGGGGAAGGATCCA CGGGGCAGGGGGCGGGGAGGGGGAGCCTCCGGGGGGAAGGATCCACGGGG CAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGG GAGGTGGCGGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTG GCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGG AGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	315	0.0032	667	c.949 others(682): Show c.949+147_949+148insCTGCCCCGTGGATCCTTCCCCCGGAGGCTC CCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTG CCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTGCCCCGT GGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCC TTCCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGGATCCTTCCC CCGGAGGCTCCCCCTCCCCCGCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTC CCCGCCACCTCCCCCCTTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCG CCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCT CCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCGCCCACCTCCCCCT GCCCCGTGGATCCTTCCCCAGGAGGCTCCCCCGCCACCTCCCCCTGCCCC GTGGATCCTTCCCCGGAGGCTCCCCGCCACCTCCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(660): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAG GGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTG AAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGG AGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGG AGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAG AGAAGAGGGAAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	2	0.5000	667	c.624 others(682): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCT CCCCTCCTTCCTCTCCTCCTCCTCCCCTTCCCTCTTCTCTCCTCCTCCCC TCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTC CTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTC CTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTC CTCCCTTTCACCTTTTCCTCCTCCTCCCCTCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(660): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(43): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG01243.hp2 HG01884.hp1 HG02027.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 NA18944.hp1 NA18947.hp2 NA18969.hp2 NA18999.hp1 NA19004.hp2 NA19056.hp2 NA19066.hp2 NA19088.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0007c0016 a0009c0012	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0007c0016t0001 a0009c0012t0001	a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0114 others(34): Show a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0181 a0001c0001t0001g0204 a0002c0003t0001g0007 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0044 a0002c0003t0001g0059 a0002c0003t0001g0061 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0239 a0003c0004t0001g0244 a0007c0016t0001g0148 a0009c0012t0001g0110	46	47	0.9787	667	c.624 others(682): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCC TCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCC TCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(660): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04228.hp1 HG02451.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0088 a0001c0001t0002g0111 a0001c0001t0001g0088 a0001c0001t0002g0111	2	3	0.6667	667	c.624 others(682): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(660): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATATATATTATATATAATATATA ATATAAATATATTATATATAATATATATAATATATATATTATATATAATA TATATAATATATATATTATATATATTATATATATTATATATAATATAAAT ATATTATATATAATATATATAATATAAATATATTATATATAATATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAATATAAATAT ATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA20300.hp2 HG03669.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0129 a0001c0001t0003g0005 a0001c0001t0003g0129	2	133	0.0150	667	c.-70 others(684): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATATTATATATAATATATTTATATTA TATATAATATATATAATATATATAATATATATATTATATATATTATATAT AATATATATATTATATATATTATATATAATATATTTATATTATATATTAT ATATAATATATATATTATATATTATATATAATATATTTATATTTATATAA TATATAATATATTTATATTTATATATAATATATATAATATATTTATATTT ATGTATAATATATATAATATATTTATATTTATGTATAATATATATAATAT ATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(660): Show GAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGA GGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGAGGGA GGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGG GAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGAGGCA GGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGA GAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGG GGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGG CAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGA GAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA GAGGGAGGAAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19060.hp1 NA19005.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0012 a0001c0003 a0002c0012	a0001c0003t0031 a0002c0012t0030 a0001c0003t0031 a0002c0012t0030	a0001c0003t0031g0026 a0002c0012t0030g0077 a0001c0003t0031g0026 a0002c0012t0030g0077	2	3	0.6667	667	c.227 others(686): Show c.2271-2055_2271-2054insTCTCTCCCTTCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTGCCTCCCCCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTC CCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCTCTCCCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC TCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(660): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAG GGGAGGAGGGAGGGGAGGAGGGAGGAGGAGGGGGGAAGGGGGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGA GGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	667	c.12 others(678): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCTCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCCTCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCC CTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCC TCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCT CCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCC CCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCT CCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCC TCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCC CCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCC TCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCC CCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(660): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAG GGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGA GGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	667	c.12 others(678): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCCTCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCC CTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCC TCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCT CCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCC CCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCT CCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCC TCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCC CCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCC TCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCC CCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(660): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGT AGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGA TTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACC ACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCT CCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCT CAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTG GCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCAC CTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATA ATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19003.hp2 NA18986.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0060 a0001c0001t0001g0071	2	3	0.6667	667	c.188 others(684): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGAGAAAAAGTTC GAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTTG CTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCAA CCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(660): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGT AGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGA TTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACC ACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCT CCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCT CAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTG GCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCAC CTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATA ATCGCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	2	0.5000	667	c.188 others(684): Show c.188+1430_188+1431insGTCCTGAGTAGCTGCGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGAGAAAAAGTTC GAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTTG CTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCAA CCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(660): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCT CCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCT CAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTG GCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCAC CTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATA ATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	2	0.5000	667	c.188 others(684): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCAACATGGTGAA ACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGCG CCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACC CGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGCC TGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGAAAAAGTTC GAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTTG CTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCAA CCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467999	C C	CAGAAGAA others(660): Show CAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAGCGGAGACA GTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAA AAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTCTCTTTTTT TTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGTAGTGGCG CCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCT GCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACCACGCCCA GCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGG ATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCCTAAAG TGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCTCAATATC CTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTGGCTCACG CCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCACCTCAGGT CGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTCTCTACTA AAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATAATCCCAG CTACTCAGGACGCTGAAG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	442	0.0023	667	c.188 others(684): Show c.188+1422_188+1423insCTTCAGCGTCCTGAGTAGCTGGGATTAT AGGCATGCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTG ATCCGCCCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCAC CTCACCCGGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGG ATTTAGAGTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGG CCGAGGCGGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGT GGCGCGCGCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCT CTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACA TCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGA AAAAGTTCGAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACG GAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCT CACTGCAACCTCGGCCTCCCAGGTTCAATCGATTCTTCT	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(660): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAAT ATAATTATATATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	9	0.1111	667	c.75 others(678): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATTAT ATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATTATATATGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TGS1_chr8_55768446_55831445	55821296	T T	TGGAGGTG others(660): Show TGGAGGTGGGGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTCAATTCTTTTTTTTTTTTTTTTTATTGATCAT TCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAG TGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCC TAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTT AAGATTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCAT CTGTTCAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAG TGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAG ATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATG AAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGA TTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGC CATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGA CGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC CGGCAGAAGTGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	368	0.0027	667	c.244 others(686): Show c.2440-3268_2440-3267insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTCAATTCTTTTTTTTTTTTTTTTTATT GATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGA CAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGG TTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGG GTACTTAAGATTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTC AAGCATCTGTTCAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAAC CCTGAGTGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGG TCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAAC AAAATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACC ATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAA AACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCT CCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCCGGCAGAAGTGCCCCTCAGGAGGTGGGGATTTCTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(660): Show CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTC CCCCGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	12	0.0833	667	c.22 others(678): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGAC AGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(660): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTTCTCTCTCTCTCTGTCTCTCTCTG TCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCCTCC TCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCCTCT CTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGGTCTCTCTCTCTGTCTCTC TCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTC TGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0003 a0001c0001t0021g0003	1	111	0.0090	667	c.924 others(684): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGACCAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGGAGGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAG AGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAG AGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAG AGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAG AGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAG AGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAG ACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAG AGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAG AGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(660): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCC TCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCC CTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCC CCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0001 a0012c0018t0002g0001	1	10	0.1000	667	c.-25 others(686): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCT CCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCC TCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCC CCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(660): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCC CCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCTTACCCTTCCCC TTCCCCCCTCTGCCCTCCCCTATCCCTCCTCTGCCCTCCCCTCTCCCCTC CCCTCCCCCCCTCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCTCTCCCCTCTCCCCTCCCTCTCCCTCTCCCCTCT CCCCTACCCTCTCCCCTCCCTCTCCCTCTCCCCTCCCCTCCCCTCTCCCC TCTCCCATCCCCCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCTCCTCCCCTCCCCTCCCCCCTCCCCC TCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCTCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCC TCCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCACCTCCCCTCCCCCCCTCCCCTCC CCCCCTCCCCTCCCCTCCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCCTC CCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0002 a0011c0022t0002	a0011c0022t0002g0110 a0011c0022t0002g0110	1	10	0.1000	667	c.-25 others(686): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTTCCCTCCC CTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCTTACCCTTCCCCT TCCCCCCTCTGCCCTCCCCTATCCCTCCTCTGCCCTCCCCTCTCCCCTCC CCTCCCCCCCTCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCTCTCCCCTCTCCCCTCCCTCTCCCTCTCCCCTCTC CCCTACCCTCTCCCCTCCCTCTCCCTCTCCCCTCCCCTCCCCTCTCCCCT CTCCCATCCCCCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCTCCTCCCCTCCCCTCCCCCCTCCCCCT CCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCTCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCT CCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCACCTCCCCTCCCCCCCTCCCCTCCC CCCCTCCCCTCCCCTCCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCCTCC CCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(660): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACAGGCACGCCAC ACACAGGCACGCCACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACGCACGCCACACACAGGCACGCCACACACGCACGCCACACACA CGCACGCCACACACACACGCACGCCACACACACACGCACGCCACAAACGC ACGCCACACACGCACGCCACACACGCACGCCAGCCACACACGCACGCCAC ACACGAACGCCACACAAACGCCACACACACGAATGCCACACGCACACCAC ACACGCACGCCACACACGCACGCCACACACGCACGCCACACACAGGCATG CCACACACATGCACGCCACACACAGGCACGCCACACACGCACGCCACACA CAGGCATGCCAAACACGCACGCCACACATGCATGCCACACACACAGGCAC ACCACACACAGGCACGCCACACACACAGGCACGCCACACACATGCACGCC ACACACGCACGCCACACG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	230	0.0043	667	c.961 others(682): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGT GTGGCATGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCATGTGTGTGGCATGCCTGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTG TGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTG TGTGGCTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCG TGCGTGTGTGTGTGGCGTGCGTGTGTGTGTGGCGTGCGTGTGTGTGGCGT GCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTG GCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCCTG TGTGTGTGGCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGT GTGTGGCGTGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGT GCGTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGGCGTGCCTGTGTGTG TGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273397	A A	AAAATTAT others(660): Show AAAATTATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATTATATATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATATAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	268	0.0037	667	c.29 others(678): Show c.2962_*2963insAAATTATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATTATATA TATATAAAAATTATATATATATTATATATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATATAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2284		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370245	G G	GTATGTGT others(660): Show GTATGTGTGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGT GTGTATATGTGTGTATATGTGTGTGTATGTGTGCGTGTATGTGTGTATGT GTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTATGTGTGTGTAT GTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGT GTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGT GTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGT TCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGTATGTGTGTGTATGTG TGTGTATATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGTGTGTG TATGTGTGTGTATATGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTA TGTGTGTATGTGTGTGTATACGTGTGTATATGTGTGTGTGTATATGTGCG TGTATATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTA TGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTCTGTGTATATGTGTG TGTATATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00597.hp2 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0361 a0002c0002t0005g0362 a0002c0002t0005g0361 a0002c0002t0005g0362	2	357	0.0056	667	c.-6- others(682): Show c.-6-3466_-6-3465insTGTGTGTGTGTGTATATGTGTGTGTATGTG TGTGTGTATATGCGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGCG TGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTG TGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTA TGTGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTA TATGCGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTG TGTATATGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTG TGTGTATATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGT ATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGCGT GTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGCGTGT ATATGTGTGTGTGTATGTGTGTATGTGTGTGTATACGTGTGTATATGTGT GTGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTGTATATGTGT GTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGT CTGTGTATATGTGTGTGTATATGTGTGTGTGTATATG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(660): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG02135.hp2 others(3): Show HG01123.hp2 HG01192.hp1 HG02135.hp2 HG04115.hp2 HG04204.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0118 a0001c0001t0002g0085 a0001c0001t0005g0008 others(3): Show a0001c0001t0001g0118 a0001c0001t0002g0085 a0001c0001t0005g0008 a0001c0001t0011g0044 a0001c0001t0013g0084 a0001c0001t0013g0124	6	110	0.0545	667	c.82+ others(682): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(660): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	25	0.0400	667	c.483 others(682): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCC TCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(660): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATATTATAAATAATATATTATATATATTATATATTA TAAATAATATATTATATATATTATATATTATAAATAATATATTATATATA TTATATATTATAAATAATATATTATATATATTATATATTATAAATAATAT ATTATATATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATAAATAATAT ATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0170 a0001c0001t0098g0170	1	44	0.0227	667	c.-1- others(684): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATATTATAAATAATATATTA TATATATTATATATTATAAATAATATATTATATATATTATATATTATAAA TAATATATTATATATATTATATATTATAAATAATATATTATATATATTAT ATATTATAAATAATATATTATATATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATTATATATTATAAATAATATATTAT ATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(660): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGG AGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGG AGGGAAGGGGAGGGAGGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGA AGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGA GGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGA GGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGG GAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGG AGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGA AAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0129 a0001c0005t0002g0129	1	72	0.0139	667	c.205 others(686): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTCCCTCCCT CTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCC CTTCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCC TCGCTCCCCTCACTTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCC TCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCC TCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCT CCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCC TCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCT CACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCA CTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(660): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATA ACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATAT TGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATA ACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02698.hp2 HG02965.hp1 others(3): Show HG01891.hp2 HG02698.hp2 HG02965.hp1 HG03516.hp2 HG03942.hp1 NA19043.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0003 a0006c0006 a0009c0010 a0003c0003 a0006c0006 a0009c0010	a0003c0003t0002 a0006c0006t0006 a0009c0010t0006 a0003c0003t0002 a0006c0006t0006 a0009c0010t0006	a0003c0003t0002g0002 a0003c0003t0002g0016 a0006c0006t0006g0095 others(1): Show a0003c0003t0002g0002 a0003c0003t0002g0016 a0006c0006t0006g0095 a0009c0010t0006g0181	6	307	0.0195	667	c.-42 others(678): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar

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