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
OPRL1_chr20_64075082_64105633	64088837	G G	GCAGGATC others(913): Show GCAGGATCTGTGCAGAGCGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCCGTGCAGAGTGG CCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGGTCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGGTCTGTGCAGAGTGG CCAGGGTCTTGGCAGGGTGGCCAGGATCTGTGCAGAGTGGGCAGGATCTG TGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGGTCTGTGCAGGGAGG GCAGGATCTGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCG TGCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTG TGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGG CCAGGATCTGTGCAGAGTGGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0019 a0003c0002t0019	a0003c0002t0019g0022 a0003c0002t0019g0022	1	55	0.0182	920	c.-18 others(939): Show c.-184-3115_-184-3114insAGCGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCCGT GCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGGAGGG CAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGGTCTGT GCAGAGTGGCCAGGGTCTTGGCAGGGTGGCCAGGATCTGTGCAGAGTGGG CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGGTCTGT GCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGC CAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGGTCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64088857	G G	GCAGGATC others(913): Show GCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTA TGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGGTGG CCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTG TGCAGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGCGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGG CCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTG TGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGTCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19081.hp2 HG01934.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0017 a0001c0001t0012g0018	2	44	0.0455	920	c.-18 others(939): Show c.-184-3105_-184-3104insATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGC CAGGGTCTTTGCAGGGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GAAGAGTGGCCAGGATCTGTGCAGGGAGGGTAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGT GCAGAGCGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAAGG CAGGATCTGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGT GCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAAGGAGGTCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGT GCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(913): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATCCATGTGTGTATATATGCATATATGTATATGCAT GTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACAT ATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCAT ATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATATAT ACACATATACATGTATATGCATATGTGTGTATATATACACATATACATGT ATATGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGT GTATATATACACATATACATGTATATGCATATGTGTGTATATATACACAT ATACATGTATATGCATATGTGTGTATATATACACATATACATGTATATGC ATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATAT ATACACATATACATGTATATGCATATGTGTGTATATATACACATATACAT GTATATGCATATGTGTGTATATATACACATATACATGTATATGCATATGT GTGTATATATACACATATACATGTATATGCATATGTGTGTATATATACAC ATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATAT GCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATATATACACATATAC ATGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATAT GTGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTAT ATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	135	0.0074	920	c.31 others(931): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATCCATGTGTGTATATATGCA TATATGTATATGCATGTGTGTATATATACATATATATGTATATGCATATG TGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACATA TATATGTATATGCATATGTGTGTATATATACACATATACATGTATATGCA TATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATATA TACACATATACATGTATATGCATATGTGTGTATATATACACATATACATG TATATGCATATGTGTGTATATATACACATATACATGTATATGCATATGTG TGTATATATACACATATACATGTATATGCATATGTGTGTATATATACACA TATACATGTATATGCATATGTGTGTATATATACACATATACATGTATATG CATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATA TATACACATATACATGTATATGCATATGTGTGTATATATACACATATACA TGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATATG TGTGTATATATACACATATACATGTATATGCATATGTGTGTATATATACA CATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TATATACACATATACATGTATATGCATATGTGTGTATATATACACATATA CATGTATATGCATATGTGTGTATATATACACATATATATGTGTGTGTATA TATATGTGTGTGTATATATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(913): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGATAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	13	0.0769	920	c.215 others(937): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGC TCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGATAGTAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(913): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGATAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02896.hp2 others(3): Show HG02451.hp1 HG02572.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0009 a0001c0025 a0008c0013 a0001c0009 a0001c0025 a0008c0013	a0001c0009t0002 a0001c0025t0002 a0008c0013t0002 a0001c0009t0002 a0001c0025t0002 a0008c0013t0002	a0001c0009t0002g0095 a0001c0009t0002g0132 a0001c0009t0002g0182 others(2): Show a0001c0009t0002g0095 a0001c0009t0002g0132 a0001c0009t0002g0182 a0001c0025t0002g0093 a0008c0013t0002g0005	6	18	0.3333	920	c.215 others(937): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGC TCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGATAGTAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(913): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGATAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19030.hp1 HG01074.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0007 a0001c0001t0001 a0001c0009t0007	a0001c0001t0001g0131 a0001c0009t0007g0098 a0001c0001t0001g0131 a0001c0009t0007g0098	2	14	0.1429	920	c.215 others(937): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGC TCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGATAGTAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHA4_chr19_48832097_48873617	48835044	G G	GGCCTGGA others(913): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGG TCTGAGGAAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAG GAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAA GTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGA GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTG GGTCTGAGGAAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0001 a0002c0002t0004g0001	1	269	0.0037	920	c.22 others(931): Show c.2244_*2245insTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCC TACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGGCTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGC TCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCC TCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCA GGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCC CTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGA GTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGC CCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAG GCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTT CCTCCCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCT CCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2052		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	492507	C C	CCCAGAGC others(913): Show CCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAG ACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCG TCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCC GGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCG TCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTC CCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGC CGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCC TCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAG GCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGC CCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCG AGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGG GCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGA CCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTC CAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGA GACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCG TCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGG GAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTC CGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCC GGGAGACCCGAGGCCGTCCGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0041 a0001c0002t0009g0041	1	126	0.0079	920	c.126 others(939): Show c.1265+3511_1265+3512insAGCCCTCCCGGGAGACCCGAGGCCGC CCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCG GGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCG TCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCT CCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGG CCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCC CTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGA GGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGG CCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCC GAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAG GGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGAC CCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTC CAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGG AGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCC GTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCG GGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGT CCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCC CGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCC GTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114052993	C C	CGCTCCTG others(913): Show CGCTCCTGGGGGAGAGACCCCCGCTGCTGACTGTGCGTAGAGTCCTCGCT CCTGGGGGAGAAACCCCCGCTGCTGACTGTGCGTAGAGTCCTCGCTCCTG GGGGAGAAACCCCCGCTGCTGACTGTGCGTAGAGTCCTCGCTCCTGGGGG AGAGACCCCCGCTGCTGACTGTGCTTAGAGTCCTCGCTCCTGGGGGAGAA ATCCCCACTGCTGACTGTACTTAGAGTCCTGGCTCCTGGGGGAGAAACCC CCGCTGCTGACTGTGCTTAGAGTCCTCGCTCCTGGGGGAGAAATCCCCAC TGCTGACTGTACTTAGAGTCCTCGCTCCTGGGGGAGAAATCCCCACTGCT GACTGTACTTAGAGTCCTCGCTCCTGGGGGAGAAATCCCCACTGCTGACT GTACTTAGAGTCCTGGCTCCTGGGGGAGAGACCCCCGCTGCTGACTGTGC GTAGAGTCCTCGCTCCTGGGGGAGAGACCCCCGCTGCTGACTGTACTTAG AGTCCTCGCTCCTGGGGGAGAAATCCCCACTGCTGACTGTGCGTAGAGTC CTCGCTCCTGGGGGAGAGACCCCCGCTGCTGACTGTGCGTAGAGTCCTCG CTCCTGGGGGAGAAACCCCCGCTGCTGACTGTGCGTAGAGTCCTCGCTCC TGGGGGAGAAACCCCCGCTGCTGACTGTGCGTAGAGTCCTCGCTCCTGGG GGAGAGACCCCCGCTGCTGACTGTGCGTAGAGTCCTCGCTCCTGGGGGAG AGACCCCCGCTGCTGACTGTGCGTAGAGTCCTCGCTCCTGGGGGAGAAAT CGCCACTGCTGACTGTACTTAGAGTCCTGGCTCCTGGGGGAGAGGCCCCC GCTGCTGACTGTGCTTAGAGTCCTCGCTCCTGGGGGAGAGATCCCCGCTG CTGACTGTGCTTAGAGTCCTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	64	0.0156	920	c.174 others(935): Show c.174-839_174-838insCAGGACTCTAAGCACAGTCAGCAGCGGGGA TCTCTCCCCCAGGAGCGAGGACTCTAAGCACAGTCAGCAGCGGGGGCCTC TCCCCCAGGAGCCAGGACTCTAAGTACAGTCAGCAGTGGCGATTTCTCCC CCAGGAGCGAGGACTCTACGCACAGTCAGCAGCGGGGGTCTCTCCCCCAG GAGCGAGGACTCTACGCACAGTCAGCAGCGGGGGTCTCTCCCCCAGGAGC GAGGACTCTACGCACAGTCAGCAGCGGGGGTTTCTCCCCCAGGAGCGAGG ACTCTACGCACAGTCAGCAGCGGGGGTTTCTCCCCCAGGAGCGAGGACTC TACGCACAGTCAGCAGCGGGGGTCTCTCCCCCAGGAGCGAGGACTCTACG CACAGTCAGCAGTGGGGATTTCTCCCCCAGGAGCGAGGACTCTAAGTACA GTCAGCAGCGGGGGTCTCTCCCCCAGGAGCGAGGACTCTACGCACAGTCA GCAGCGGGGGTCTCTCCCCCAGGAGCCAGGACTCTAAGTACAGTCAGCAG TGGGGATTTCTCCCCCAGGAGCGAGGACTCTAAGTACAGTCAGCAGTGGG GATTTCTCCCCCAGGAGCGAGGACTCTAAGTACAGTCAGCAGTGGGGATT TCTCCCCCAGGAGCGAGGACTCTAAGCACAGTCAGCAGCGGGGGTTTCTC CCCCAGGAGCCAGGACTCTAAGTACAGTCAGCAGTGGGGATTTCTCCCCC AGGAGCGAGGACTCTAAGCACAGTCAGCAGCGGGGGTCTCTCCCCCAGGA GCGAGGACTCTACGCACAGTCAGCAGCGGGGGTTTCTCCCCCAGGAGCGA GGACTCTACGCACAGTCAGCAGCGGGGGTTTCTCCCCCAGGAGCGAGGAC TCTACGCACAGTCAGCAGCGGGGGTCTCTCCCCCAGGAGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(913): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	253	0.0040	920	c.66+ others(935): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SARDH_chr9_133658560_133743352	133668499	C C	CCCTCTCC others(913): Show CCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCC TCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTC TCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCC TCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCC CTCACCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCC TCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCT CTCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCCTCGCCCTCCCTCTCCCCTCACCCTCATCCTCCCTCTCCCTCACCC TCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCT CTCCCCTTACCCTCCCTCTCCCTCTCCTTCCCTCTCCCTTACCCTCCCTC TCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTC CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCCTTACCCACCCTCTCCCCCTTACCCTCCCCCCCTCCCTCT CCCTCACCTTCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0246 a0003c0003t0002g0246	1	253	0.0040	920	c.249 others(939): Show c.2496-1630_2496-1629insAGGGGAGAGGGAAGGTGAGGGAGAGG GAGGGGGGGAGGGTAAGGGGGAGAGGGTGGGTAAGGGGAGAGGGAGGGTG AGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGA GGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGA GGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGG AGGGTAAGGGAGAGGGAAGGAGAGGGAGAGGGAGGGTAAGGGGAGAGGGA GGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAG GTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGT GAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTG AGGGAGAGGGAGGATGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGG AGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTAAGGGGAGAGGGA GGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAG GGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGGAG AGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGTG AGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGG AGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGG AGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTG AGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668930	C C	CCTTACCC others(913): Show CCTTACCCTCCCTCTCCCTCACCTTCCCTCTCTCTCTCCTTCCCTCTCCC CCACCCTCCCTCTCCCTCTCCCTCATTCTCCCTCACCCTCCCTCTCCCTC ACCCTCATTCTCCTCAGCCTCCCTCTCCCTCTCCCCTTCACCCTCCCTCT CCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCTC CCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTC CCTCACCCTCCATCTCCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTC CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCC CCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCC CTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCTCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCATCTCCCCTCA CCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCAC CCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCAC CCTCCCTCTCTCTCTCCTTCCCTCTCCCTCACCCTCCCTCTCCCCTCATC CTCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCTCACCCTC CCTCTCTCTCTCCTTCCCTCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	260	0.0038	920	c.249 others(939): Show c.2495+1653_2495+1654insAGAGGGAAGGAGAGAGAGAGGGAGGG TGAGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGAGGATGA GGGGAGAGGGAGGGTGAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAG GGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAG GGGAGATGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGG GGAGATGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGTGAGG GAGAGGGAGGGTGAGGGGAGAGGAGGGTGAGGGAGAGGGAGGGTGAGGGA GAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGA GGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGA GGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGGAGA TGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAG GGAGGGTGAGGGGAGATGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAG GGAAGGTGAGGGAGAGGGAGGGGGAGGGTAAGGGGAGAGGGAGGGTGAGG GAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGG AGAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGG CGAGGGAGAGGGAGGGTAAGGGAGAGGGAGGGTGAAGGGAGAGGGAGAGG GAGGGTGAAGGGGAGAGGGAGAGGGAGGCTGAGGAGAATGAGGGTGAGGG AGAGGGAGGGTGAGGGAGAATGAGGGAGAGGGAGAGGGAGGGTGGGGGAG AGGGAAGGAGAGAGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(913): Show CATATATATATATATTCCATATATATATATATTCCATATATATATTCCAT ATATATATATATTCCATATATATATTCCATATATATATACCATATATATA TTCCATATATATATACCATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0015	1	230	0.0043	920	c.115 others(937): Show c.115-2573_115-2572insATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATGGTATATATATATGGAATATATAT ATGGTATATATATATGGAATATATATATGGAATATATATATATATGGAAT ATATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SHISAL1_chr22_44238665_44317951	44302617	A A	AGGGGCAA others(913): Show AGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC GGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC GGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC GGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCGGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC GGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCGGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0302 a0001c0003t0088g0302	1	377	0.0027	920	c.-32 others(937): Show c.-32-1641_-32-1640insCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCCGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC25A26_chr3_66216001_66383923	66285499	T T	TCCCCATG others(913): Show TCCCCATGAACTGCAGTATGATACCCTCATACTCATTTTGGCAGATATTA TAGCATATGCAACTTTAAAAATTGTTATAAGAAAACTTGAGCCCAGGAGT TGGAGCCCTGGGTAACAGCGAGACCCTTTCTCAAAACAAACAAACAAACA AAAAACAAAAAAACATATCCAAAAACAGGACGGATGAAAATTTTATAATT GTTGAAATATCATACATGATTTATATTGTTAATGTGTAAATTTTGCCTAT TTTCAGTAGCTTTTTAAAAATGTTCTCATGATTTCACAGTATTTTTTGTG AAAATTGGAAGTCAAAAGTTGGTCAGAATTTCACATTCTCAAATTGACTT TTAATATATTGATATTAATTCACTCTTCTTTGTCACCTAAATCAATATCA AGATCTAAATCATCAATTTAACTTTTTCTGCAGCTTCTTCTGTGGTTAGA ACTTAGATTATTTTCAGTAATTTTTGTTTTTTCTAGTTCTTTATTAAACA GAATAATAGGGACTTCTTCGTTTCTACATTTTGTGCAGACTTCACATTCA TACGCACATAGTCTACACATTATGTGATAAGAATCCTTCACTGACTTTTA TAAATAACCATTTAACACATTTTTTTAGGTTTTGATAATGGTTTGTGTTT TTAAATTTTATTAATGCATGCCATTCAGGAACTTCTTTACAGAGTTGACA TATTCCATCATGAAATTTTGCATTTATTTTCTTGGTCTGAACACTCTTAC CAAACTTGGTGTTTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTC TGTCACCCAGGCTGGAGTGTAGTGGCATGATCTCAGCTCACTGCAAACTC CTCCTCACAGGTTCAAAACTTGGGGGGTTTTTTTTTGTGCTTTTTTTTTG AGACAGAGTCTCAGTCTGTCA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01516.hp1 HG01952.hp1 others(11): Show HG01433.hp1 HG01516.hp1 HG01952.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG03834.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0004 a0001c0001 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0002c0003t0002 a0004c0004t0001 a0004c0004t0009	a0001c0001t0001g0245 a0001c0001t0002g0048 a0001c0001t0002g0050 others(11): Show a0001c0001t0001g0245 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0003g0295 a0001c0001t0004g0289 a0001c0001t0012g0049 a0001c0001t0014g0287 a0002c0003t0002g0162 a0004c0004t0001g0113 a0004c0004t0001g0115 a0004c0004t0001g0116 a0004c0004t0009g0114	14	176	0.0795	920	c.453 others(939): Show c.453+22123_453+22124insCATGAACTGCAGTATGATACCCTCAT ACTCATTTTGGCAGATATTATAGCATATGCAACTTTAAAAATTGTTATAA GAAAACTTGAGCCCAGGAGTTGGAGCCCTGGGTAACAGCGAGACCCTTTC TCAAAACAAACAAACAAACAAAAAACAAAAAAACATATCCAAAAACAGGA CGGATGAAAATTTTATAATTGTTGAAATATCATACATGATTTATATTGTT AATGTGTAAATTTTGCCTATTTTCAGTAGCTTTTTAAAAATGTTCTCATG ATTTCACAGTATTTTTTGTGAAAATTGGAAGTCAAAAGTTGGTCAGAATT TCACATTCTCAAATTGACTTTTAATATATTGATATTAATTCACTCTTCTT TGTCACCTAAATCAATATCAAGATCTAAATCATCAATTTAACTTTTTCTG CAGCTTCTTCTGTGGTTAGAACTTAGATTATTTTCAGTAATTTTTGTTTT TTCTAGTTCTTTATTAAACAGAATAATAGGGACTTCTTCGTTTCTACATT TTGTGCAGACTTCACATTCATACGCACATAGTCTACACATTATGTGATAA GAATCCTTCACTGACTTTTATAAATAACCATTTAACACATTTTTTTAGGT TTTGATAATGGTTTGTGTTTTTAAATTTTATTAATGCATGCCATTCAGGA ACTTCTTTACAGAGTTGACATATTCCATCATGAAATTTTGCATTTATTTT CTTGGTCTGAACACTCTTACCAAACTTGGTGTTTTTTTGTTTTGTTTTGT TTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGA TCTCAGCTCACTGCAAACTCCTCCTCACAGGTTCAAAACTTGGGGGGTTT TTTTTTGTGCTTTTTTTTTGAGACAGAGTCTCAGTCTGTCACCC	SLC25A26	ENSG00000144741.19	transcript	ENST00000354883.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC25A26_chr3_66216001_66383923	66285499	T T	TCCCCATG others(913): Show TCCCCATGAACTGCAGTATGATACCCTCATACTCATTTTGGCAGATATTA TAGCATATGCAACTTTAAAAATTGTTATAAGAAAACTTGAGCCCAGGAGT TGGAGCCCTGGGTAACAGCGAGACCCTTTCTCAAAACAAACAAACAAACA AAAAACAAAAAAACATATCCAAAAACAGGACGGATGAAAATTTTATAATT GTTGAAATATCATACATGATTTATATTGTTAATGTGTAAATTTTGCCTAT TTTCAGTAGCTTTTTAAAAATGTTCTCATGATTTCACAGTATTTTTTGTG AAAATTGGAAGTCAAAAGTTGGTCAGAATTTCACATTCTCAAATTGACTT TTAATATATTGATATTAATTCACTCTTCTTTGTCACCTAAATCAATATCA AGATCTAAATCATCAATTTAACTTTTTCTGCAGCTTCTTCTGTGGTTAGA ACTTAGATTATTTTCAGTAATTTTTGTTTTTTCTAGTTCTTTATTAAACA GAATAATAGGGACTTCTTCGTTTCTACATTTTGTGCAGACTTCACATTCA TAGGCACATAGTCTACACATTATGTGATAAGAATCCTTCACTGACATTTA TAAATAAACATTTAACACATTTTTTTAGGTTTTGATAATGGTTTGTGTTT TTAAATTTTATTAATGCATGCCATTCAGGAACTTCTTTACAGAGTTGACA TATTCCATCATGAAATTTTGCATTTATTTTCTTGGTCTGAACACTCTTAC CAAACTTGGTGTTTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTC TGTCACCCAGGCTGGAGTGTAGTGGCATGATCTCAGCTCACTGCAAACTC CTCCTCACAGGTTCAAAACTTGGGGGGTTTTTTTTTGTGCTTTTTTTTTG AGACAGAGTCTCAGTCTGTCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00544.hp2 others(86): Show HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02922.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0003 a0002c0006 others(5): Show a0001c0001 a0002c0003 a0002c0006 a0002c0007 a0003c0002 a0003c0012 a0005c0011 a0006c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0002c0003t0002 a0002c0003t0003 a0002c0006t0002 a0002c0007t0002 a0003c0002t0001 a0003c0002t0002 a0003c0012t0002 a0005c0011t0002 a0006c0008t0002	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 others(85): Show a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0105 a0001c0001t0002g0222 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0003g0002 a0001c0001t0003g0223 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0248 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0007g0228 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0010g0057 a0001c0001t0010g0063 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0081 a0002c0003t0002g0082 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0126 a0002c0003t0002g0127 a0002c0003t0002g0128 a0002c0003t0002g0130 a0002c0003t0002g0131 a0002c0003t0002g0133 a0002c0003t0002g0134 a0002c0003t0002g0135 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0156 a0002c0003t0002g0160 a0002c0003t0002g0171 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0203 a0002c0003t0002g0213 a0002c0003t0002g0218 a0002c0003t0003g0150 a0002c0006t0002g0119 a0002c0006t0002g0120 a0002c0006t0002g0121 a0002c0006t0002g0206 a0002c0006t0002g0208 a0002c0006t0002g0209 a0002c0006t0002g0210 a0002c0006t0002g0288 a0002c0007t0002g0219 a0003c0002t0001g0076 a0003c0002t0002g0178 a0003c0002t0002g0179 a0003c0002t0002g0180 a0003c0002t0002g0185 a0003c0002t0002g0186 a0003c0002t0002g0187 a0003c0002t0002g0190 a0003c0012t0002g0152 a0005c0011t0002g0137 a0006c0008t0002g0077	89	251	0.3546	920	c.453 others(939): Show c.453+22123_453+22124insCATGAACTGCAGTATGATACCCTCAT ACTCATTTTGGCAGATATTATAGCATATGCAACTTTAAAAATTGTTATAA GAAAACTTGAGCCCAGGAGTTGGAGCCCTGGGTAACAGCGAGACCCTTTC TCAAAACAAACAAACAAACAAAAAACAAAAAAACATATCCAAAAACAGGA CGGATGAAAATTTTATAATTGTTGAAATATCATACATGATTTATATTGTT AATGTGTAAATTTTGCCTATTTTCAGTAGCTTTTTAAAAATGTTCTCATG ATTTCACAGTATTTTTTGTGAAAATTGGAAGTCAAAAGTTGGTCAGAATT TCACATTCTCAAATTGACTTTTAATATATTGATATTAATTCACTCTTCTT TGTCACCTAAATCAATATCAAGATCTAAATCATCAATTTAACTTTTTCTG CAGCTTCTTCTGTGGTTAGAACTTAGATTATTTTCAGTAATTTTTGTTTT TTCTAGTTCTTTATTAAACAGAATAATAGGGACTTCTTCGTTTCTACATT TTGTGCAGACTTCACATTCATAGGCACATAGTCTACACATTATGTGATAA GAATCCTTCACTGACATTTATAAATAAACATTTAACACATTTTTTTAGGT TTTGATAATGGTTTGTGTTTTTAAATTTTATTAATGCATGCCATTCAGGA ACTTCTTTACAGAGTTGACATATTCCATCATGAAATTTTGCATTTATTTT CTTGGTCTGAACACTCTTACCAAACTTGGTGTTTTTTTGTTTTGTTTTGT TTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGA TCTCAGCTCACTGCAAACTCCTCCTCACAGGTTCAAAACTTGGGGGGTTT TTTTTTGTGCTTTTTTTTTGAGACAGAGTCTCAGTCTGTCACCC	SLC25A26	ENSG00000144741.19	transcript	ENST00000354883.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC25A26_chr3_66216001_66383923	66285499	T T	TCCCCATG others(913): Show TCCCCATGAACTGCAGTATGATACCCTCATACTCATTTTGGCAGATATTA TAGCATATGCAACTTTAAAAATTGTTATAAGAAAACTTGAGCCCAGGAGT TGGAGCCCTGGGTAACAGCGAGACCCTTTCTCAAAACAAACAAACAAACA AAAAACAAAAAAACATATCCAAAAACAGGACGGATGAAAATTTTATAATT GTTGAAATATCATACATGATTTATATTGTTAATGTGTAAATTTTGCCTAT TTTCAGTAGCTTTTTAAAAATGTTCTCATGATTTCACAGTATTTTTTGTG AAAATTGGAAGTCAAAAGTTGGTCAGAATTTCACATTCTCAAATTGACTT TTAATATATTGATATTAATTCACTCTTCTTTGTCACCTAAATCAATATCA AGATCTAAATCATCAATTTAACTTTTTCTGCAGCTTCTTCTGTGGTTAGA ACTTAGATTATTTTCAGTAATTTTTGTTTTTTCTAGTTCTTTATTAAACA GAATAATAGGGACTTCTTCGTTTCTACATTTTGTGCAGACTTCACATTCA TAGGCACATAGTCTACACATTATGTGATAAGAATCCTTCACTGACTTTTA TAAATAAACATTTAACACATTTTTTTAGGTTTTGATAATGGTTTGTGTTT TTAAATTTTATTAATGCATGCCATTCAGGAACTTCTTTACAGAGTTGACA TATTCCATCATGAAATTTTGCATTTATTTTCTTGGTCTGAACACTCTTAC CAAACTTGGTGTTTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTC TGTCACCCAGGCTGGAGTGTAGTGGCATGATCTCAGCTCACTGCAAACTC CTCCTCACAGGTTCAAAACTTGGGGGGTTTTTTTTTGTGCTTTTTTTTTG AGACAGAGTCTCAGTCTGTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01099.hp1 others(24): Show HG00280.hp1 HG00735.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01358.hp2 HG01981.hp1 HG02027.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0002c0003t0004	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0004g0232 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0011g0278 a0001c0001t0015g0013 a0001c0001t0019g0290 a0002c0003t0004g0142 a0002c0003t0004g0143	27	189	0.1429	920	c.453 others(939): Show c.453+22123_453+22124insCATGAACTGCAGTATGATACCCTCAT ACTCATTTTGGCAGATATTATAGCATATGCAACTTTAAAAATTGTTATAA GAAAACTTGAGCCCAGGAGTTGGAGCCCTGGGTAACAGCGAGACCCTTTC TCAAAACAAACAAACAAACAAAAAACAAAAAAACATATCCAAAAACAGGA CGGATGAAAATTTTATAATTGTTGAAATATCATACATGATTTATATTGTT AATGTGTAAATTTTGCCTATTTTCAGTAGCTTTTTAAAAATGTTCTCATG ATTTCACAGTATTTTTTGTGAAAATTGGAAGTCAAAAGTTGGTCAGAATT TCACATTCTCAAATTGACTTTTAATATATTGATATTAATTCACTCTTCTT TGTCACCTAAATCAATATCAAGATCTAAATCATCAATTTAACTTTTTCTG CAGCTTCTTCTGTGGTTAGAACTTAGATTATTTTCAGTAATTTTTGTTTT TTCTAGTTCTTTATTAAACAGAATAATAGGGACTTCTTCGTTTCTACATT TTGTGCAGACTTCACATTCATAGGCACATAGTCTACACATTATGTGATAA GAATCCTTCACTGACTTTTATAAATAAACATTTAACACATTTTTTTAGGT TTTGATAATGGTTTGTGTTTTTAAATTTTATTAATGCATGCCATTCAGGA ACTTCTTTACAGAGTTGACATATTCCATCATGAAATTTTGCATTTATTTT CTTGGTCTGAACACTCTTACCAAACTTGGTGTTTTTTTGTTTTGTTTTGT TTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGA TCTCAGCTCACTGCAAACTCCTCCTCACAGGTTCAAAACTTGGGGGGTTT TTTTTTGTGCTTTTTTTTTGAGACAGAGTCTCAGTCTGTCACCC	SLC25A26	ENSG00000144741.19	transcript	ENST00000354883.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC31A1_chr9_113216544_113269492	113250305	T T	TAAGAAAA others(913): Show TAAGAAAATGTGGCACATATACACCATGGAATATTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATC ACACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAA AAAAAAAAAAAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAA ACAGTGCGAAATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTC AGCTTCATTAACTTCTATAATTTGAAATTATCCCAATTATTACCTGACAT GTACTAAAATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGAT AATTTTTCTCTCTGTATATATTTATATAGTCACATATATGCACATACATT ATACAAGCATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGT TTTCTTTATCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTA GAAGTAAAGGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTAC ACTTAAATTATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02896.hp1 HG02155.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0055 a0001c0001t0005 a0001c0001t0055	a0001c0001t0005g0315 a0001c0001t0055g0320 a0001c0001t0005g0315 a0001c0001t0055g0320	2	376	0.0053	920	c.-35 others(937): Show c.-35-5777_-35-5776insTTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAGCATTGGGAGAT ATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATCACACCACTGCA CTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAAAAAAAAAAAA AAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAAACAGTGCGAAA TTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCAGCTTCATTAA CTTCTATAATTTGAAATTATCCCAATTATTACCTGACATGTACTAAAATT CCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATAATTTTTCTCT CTGTATATATTTATATAGTCACATATATGCACATACATTATACAAGCATT ACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTTTTCTTTATCT TTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAGAAGTAAAGGA GGAAGGAAATGAATAATCTTCAGATACTAAGAACATTACACTTAAATTAT TATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAAATGTGGCACATATACACCATGGAATA	SLC31A1	ENSG00000136868.11	transcript	ENST00000374212.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(913): Show CATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATC CATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC TATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATC CATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19074.hp2 NA18998.hp1 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0026 a0001c0004t0004g0301 a0001c0004t0004g0026 a0001c0004t0004g0301	2	274	0.0073	920	c.107 others(937): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(913): Show CATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC TACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	273	0.0037	920	c.107 others(937): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATAGAT GGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGT AGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(913): Show CATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATC CATCCATCTATCCATCCATCCATCCATCTACCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATC CATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	273	0.0037	920	c.107 others(937): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCCATC others(913): Show CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATC CATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	201	0.0050	920	c.107 others(937): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT AGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCCATC others(913): Show CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATC CATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0122	1	201	0.0050	920	c.107 others(937): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT AGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCCATC others(913): Show CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATC CATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0123 a0002c0002t0005g0123	1	201	0.0050	920	c.107 others(937): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT AGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SPATA6_chr1_48290373_48477204	48384327	A A	AGGGAGGA others(913): Show AGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAG AGGGAGAGGGAGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGAGAGGAGA GGGAGAGGGAGAGGGAGAGGGGAGAGGAGAGGGAGAGGGAGAGGAGAGGG AGAGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	320	0.0031	920	c.909 others(935): Show c.909+981_909+982insCTCTCCCTCTCCCTCTCCTCTCCCTCTCCT CTCCCTCTCCCTCTCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCTCTC CTCTCCCTCTCCCTCTCCCCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTC CCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89852621	C C	CTGGCCCG others(913): Show CTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCATC TTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTC CCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCC CCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATACGTCTTC TCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCC ATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGCATCCCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	153	0.0065	920	c.646 others(937): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCCA TGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCA TGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CTGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(913): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTC TCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	82	0.0122	920	c.646 others(937): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCA TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SUFU_chr10_102498972_102638535	102637465	A A	AATATATT others(913): Show AATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATATTATAT ATTAATATATCTATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	263	0.0038	920	c.73 others(931): Show c.7310_*7311insATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATATTATATATTAATATATCTATATATTAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3931		chr10	TogoVar
THBS2_chr6_169210785_169258846	169242751	T T	TTCCCACC others(913): Show TTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCACTGCTCCCACCTTCCCACT GCTCCCACCTTCCCACCTTCCCACATTCCCACCACTCCCACCTTCCCACC ACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACC TTCCCACCACTCCCACCTTCCCACTGCTCCCACCTTCCCACTGCTCCCAC CTTCCCACCTTCCCACATTCCCACCACTCCCACCTTCCCACCGCTCCCAC CTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCAC CTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACT GCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCT TCCCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCT TCCCACATTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTT CCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCGCTCCCACCTT CCCACATTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTC CCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTC TCACCTTCCCACCTTTCCACCTTCCCACCACTCCTACCTTCCCACCTTCC CACATTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCA CCGCTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCC ACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCC ACCTTCCCACCTTCCCACCAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0305 a0001c0013t0002g0306 a0001c0013t0002g0305 a0001c0013t0002g0306	2	383	0.0052	920	c.695 others(935): Show c.695-794_695-793insGTGGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCGGTGGGAAGGT GGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTAGGAGTGGTGGGAAGGTGGAAAGGTGGGAAGGTGAGAATGTGGG AGCGGTGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGG AGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGA GCGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA GCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA TGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAG GTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGCG GTGGGAAGGTGGGAGTGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCA GTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAG GTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAG GTGGGAGTGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAG GTGGGAGCAGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAG GTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TMEM120B_chr12_121707752_121787068	121747471	G G	GCTGGGGT others(913): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	260	0.0038	920	c.189 others(935): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747525	C C	CGGGAGTC others(913): Show CGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0166 a0002c0002t0007g0166	1	230	0.0043	920	c.189 others(935): Show c.189-796_189-795insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(913): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCAACACACACATCACACACCACA CACCCCACACACACATCACATACCACACACAAACCACACACCCCACACAC ACATCACATACCACACACAAACCACACACCCCCACACACCCCACACACCC CACACACACCACACACCCCACACACACACCACACACCCCACACACACATC ACATACCACACACAAACCACACACCCCACACACCCCACACACCACACACA CACCACACACACATCACATACCACACACAAACCACACACCCTACACACAC CACACACCCCACACACACCACACACCCGACACACGCCACACACACACCAC ACACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACA CCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	35	0.0286	920	c.35 others(939): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCAACACACACAT CACACACCACACACCCCACACACACATCACATACCACACACAAACCACAC ACCCCACACACACATCACATACCACACACAAACCACACACCCCCACACAC CCCACACACCCCACACACACCACACACCCCACACACACACCACACACCCC ACACACACATCACATACCACACACAAACCACACACCCCACACACCCCACA CACCACACACACACCACACACACATCACATACCACACACAAACCACACAC CCTACACACACCACACACCCCACACACACCACACACCCGACACACGCCAC ACACACACCACACACCCCACGCACACATCACATACCACACACAAACCACA CACCCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS16_chr5_5135330_5325304	5305067	A A	ACACACAT others(914): Show ACACACATCCCACACACACACCCCACACCACACACACACACATCCACACC ACACACACACATTCCCACACCACACACACACAATCCCACACCACACACAC ATCCCACACCACACACACATCCCACGCCACACACACACACACCCCACACC ACACACACATCCCACACCACACATCCACACCACACACACACATCCCACAC CACACACACACACATCCCACACCACACACACACACATCCCACACACACAC ACATATCCTACATCACACACACATCCCACACCACACACACACTTCCCACA CCACACACACACACTTCCCACACCACACACACACTCACACATCCCACACC ACACACATCCCACACCACACACACACATACCGCACACACACATACCACAC CACACACACACATCCCACACCACACACACATCCCACACCACACACACATA CCACACCACACACACACACATCCCACACCACACACACACCCCACACCACA CACACATCCCACACCACACACATCCACACCACACACACACACATCCCACA CCAGACACACACATCCCACACACACATCCCACAACACACACACATCCCAC ATCACACACACACATCCCACACACACATCCCACACCACACACACACATCC CACACACACACACCCACCACACACACACATCCCACACCACACACACAATC CCACACCACACACACACACAATCCCACACCACACACACACACATCCCACA CCACACACACATCCCACGCCACACACACACACATCCCACACCACACACAC ATCCCACACCACACACATCCACACCACACACACACATCCCACACCACACA TACACACACACATCCCATACCACACACATCCCACACCACACACACATCCC ACACCACACACACATCCCACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0244 a0003c0017t0001g0244	1	322	0.0031	921	c.318 others(940): Show c.3186+1307_3186+1308insTCCCACACACACACCCCACACCACAC ACACACACATCCACACCACACACACACATTCCCACACCACACACACACAA TCCCACACCACACACACATCCCACACCACACACACATCCCACGCCACACA CACACACACCCCACACCACACACACATCCCACACCACACATCCACACCAC ACACACACATCCCACACCACACACACACACATCCCACACCACACACACAC ACATCCCACACACACACACATATCCTACATCACACACACATCCCACACCA CACACACACTTCCCACACCACACACACACACTTCCCACACCACACACACA CTCACACATCCCACACCACACACATCCCACACCACACACACACATACCGC ACACACACATACCACACCACACACACACATCCCACACCACACACACATCC CACACCACACACACATACCACACCACACACACACACATCCCACACCACAC ACACACCCCACACCACACACACATCCCACACCACACACATCCACACCACA CACACACACATCCCACACCAGACACACACATCCCACACACACATCCCACA ACACACACACATCCCACATCACACACACACATCCCACACACACATCCCAC ACCACACACACACATCCCACACACACACACCCACCACACACACACATCCC ACACCACACACACAATCCCACACCACACACACACACAATCCCACACCACA CACACACACATCCCACACCACACACACATCCCACGCCACACACACACACA TCCCACACCACACACACATCCCACACCACACACATCCACACCACACACAC ACATCCCACACCACACATACACACACACATCCCATACCACACACATCCCA CACCACACACACATCCCACACCACACACACATCCCACACCACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP5S1_chr20_3815547_3833838	3818460	G G	GAGGCTGA others(914): Show GAGGCTGAAGTGGGAGGATCACTGGAGCCCAGGAGTTCAGGCTGCTGAGC TAGGATTGCACCACTTTGCTTGCTCCAGCCTGGGCAATAGAGCAAGACCC TGTCTGTAACAAAATAAGCAAAGCCCAGCTGTGGTGTGTAGGAAGCAGCA GCCTATGCAGCAGTACAGGTAGCAGTTAGGAAGCTGCCAATGGAGGTTTG GTGGAGACAGAAGATGGGAGAGCTGTCTGAGTGCCCAATGGGAGGCTCCC AACACAGAGTGCTGCTGTGTCTGAGAGGGTCCAGGGAGGTAGAAGAAAGG AAGAGACAGACATTGCCCGACTTTGGCCTCCTTTATTCTAGGGCAGCCAT AATCCACCGAATTTCAGTCCACCTTGATTTGCAGAAAAGCATATTCCCTT TTCTTCTTAGTTTCCTGCTTTGATCTTTGAGAAATGACTAAACACTCTTA TCAGAGAGGCATTAAAAAATCCACTGCTGGCTGGGCACAGTGGCTCACGC CTATAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCCCTTTAGTTC AGGAGTTTGAGACCAGCTGAGCAACACGGTGAAACCCCGTCTCTACAAAA AATACAAAAATTAGCCAGACGTAATGGCACGTGCCTGTGGTCCCAGCTAC TCTGCTCTGAAGGCTGAGGTGCAAAGTTGGCTCAAGCCCAGGAAACAGAG GTTGCAGTGAGCCAAAATCACGCCATTGCACTCCAGCGTGGGCGACAGAG CAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTCCCACTGCC TGGGGCTAGCAGATTCTACCTAATTGCTCTCCCCACATCCAGAAGTAGGT GGTTGCTGGTCTAGCTTGAAGTCTCAGTTTCTGTAAAGATCATCAATGTG GCTGGGTATGGTGGTAAGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0024 a0001c0001t0029g0024	1	404	0.0025	921	c.-23 others(932): Show c.-2315_-2314insAGGCTGAAGTGGGAGGATCACTGGAGCCCAGGAG TTCAGGCTGCTGAGCTAGGATTGCACCACTTTGCTTGCTCCAGCCTGGGC AATAGAGCAAGACCCTGTCTGTAACAAAATAAGCAAAGCCCAGCTGTGGT GTGTAGGAAGCAGCAGCCTATGCAGCAGTACAGGTAGCAGTTAGGAAGCT GCCAATGGAGGTTTGGTGGAGACAGAAGATGGGAGAGCTGTCTGAGTGCC CAATGGGAGGCTCCCAACACAGAGTGCTGCTGTGTCTGAGAGGGTCCAGG GAGGTAGAAGAAAGGAAGAGACAGACATTGCCCGACTTTGGCCTCCTTTA TTCTAGGGCAGCCATAATCCACCGAATTTCAGTCCACCTTGATTTGCAGA AAAGCATATTCCCTTTTCTTCTTAGTTTCCTGCTTTGATCTTTGAGAAAT GACTAAACACTCTTATCAGAGAGGCATTAAAAAATCCACTGCTGGCTGGG CACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGAC AGATCCCTTTAGTTCAGGAGTTTGAGACCAGCTGAGCAACACGGTGAAAC CCCGTCTCTACAAAAAATACAAAAATTAGCCAGACGTAATGGCACGTGCC TGTGGTCCCAGCTACTCTGCTCTGAAGGCTGAGGTGCAAAGTTGGCTCAA GCCCAGGAAACAGAGGTTGCAGTGAGCCAAAATCACGCCATTGCACTCCA GCGTGGGCGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAA AAAATTCCCACTGCCTGGGGCTAGCAGATTCTACCTAATTGCTCTCCCCA CATCCAGAAGTAGGTGGTTGCTGGTCTAGCTTGAAGTCTCAGTTTCTGTA AAGATCATCAATGTGGCTGGGTATGGTGGTAAGTGCC	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2086		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687409	C C	CCGTGACC others(914): Show CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCAC TGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACT TCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACC ACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGTGA GCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCC GTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTG GCGGCGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGTGAGCACTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCTCACCCCGTGACCACACACTGGCGGCGAGC ACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTT ACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	236	0.0042	921	c.-18 others(932): Show c.-1806_-1805insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGG GAAGTGCTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGC CAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAG TGTGTGGTCACGGGGTGAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACC GCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGAGAAG TGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG CGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTG GGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGC CAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCAC GGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1564		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185836	G G	GGGGTGTG others(914): Show GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTG CATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0066 a0002c0008t0001g0066	1	330	0.0030	921	c.300 others(938): Show c.300-9133_300-9132insTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(914): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGA GAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0209 a0001c0002t0010g0209	1	9	0.1111	921	c.565 others(938): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882220	G G	GAAGGAAA others(914): Show GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAA AGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAA GCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGG AGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAG GAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGCGGGGAGAAGGAAAGGAAAGCCGC GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCTG GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGCGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0144 a0001c0010t0017g0144	1	134	0.0075	921	c.303 others(940): Show c.303+23901_303+23902insTCCCGCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC CCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCAGC TTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGG CTTTCCTTTCCTTCTCCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCC TTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDCA2_chr8_25454233_25512911	25465572	A A	ATCAAACT others(914): Show ATCAAACTTTGTATTTTTTTTTTTTGACTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTATTATACTCTAAGTTTCAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTC CTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTG GTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCC AGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTC TTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGT TTGTTTTTTTCTTGTAAATTTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	315	0.0032	921	c.388 others(936): Show c.388-587_388-586insTTTTTTTTGACTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTATTATACTCTAAGTTTCAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCAC CCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCC CCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCT GTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCC AATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGC TGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTA TCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGT GCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATA GTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTT CTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGA ACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCA TCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAA CTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATG GCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTC TTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGT TGTTTGTTTTTTTCTTGTAAATTTGTCAAACTTTGTATTTT	CDCA2	ENSG00000184661.14	transcript	ENST00000330560.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDHR2_chr5_176544342_176600824	176591754	A A	ATGATGGT others(914): Show ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0247 a0001c0003t0001g0247	1	341	0.0029	921	c.373 others(938): Show c.3734+278_3734+279insTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGT TGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGG TGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGT TGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGG TGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGA TGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGG TGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGA TGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGG TGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(914): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTACATATGTAATATATATT ATATATGTAATATATAATATATATTATATATGTAATATATATTATATATG TAATATATATTATATATGTAATATATATTATATATGTAATATATAATATA TATTATATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATTACATATATAATATATATTACATATATAATATATATTATATATGT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATTATATATGTAAT ATATATTATATATGTAATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	174	0.0057	921	c.342 others(942): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATATTATATATGCAATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATTATATATTACATATGTAATATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATTACATATGTAATATATATTATATATGT AATATATATTACATATATTACATATGTAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATATTACATATGTAATATATATTATATATGTAATATATAATATATATTAT ATATGTAATATATATTATATATGTAATATATATTATATATGTAATATATA TTATATATGTAATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATATTATATATGTAATATATTACATATATAATATATATTACA TATATAATATATATTATATATGTAATATATATTATATATGTAATATATAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAT TATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATTATATATGTAATATATATTATATATGTAATATATGTAAT ATATATTATATATGTAATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(914): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTACATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATATTACATATGTAATATATATTATATATGTAATATATAATATATA TTATATATGTAATATATATTATATATGTAATATATATTATATATGTAATA TATATTATATATGTAATATATAATATATATTATATATGTAATATATATTA TATATGTAATATATATTATATATGTAATATATTACATATATAATATATAT TACATATATAATATATATTATATATGTAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATTATATATGTA ATATATATTATATATTATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	174	0.0057	921	c.342 others(942): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTACATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTACATATGTAATATATATT ATATATGTAATATATAATATATATTATATATGTAATATATATTATATATG TAATATATATTATATATGTAATATATATTATATATGTAATATATAATATA TATTATATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATTACATATATAATATATATTACATATATAATATATATTATATATGT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATTATATATGTAATATATATTATATATTATATATGTAAT ATATATTATATATGTAATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(914): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTACATATGTAATATATA TTATATATGTAATATATTATATATTATATATGTAATATATATTATATATG TAATATATATTATATATGTAATATATATTATATATGTAATATATAATATA TATTATATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATTACATATATAATATATATTACATATATAATATATATTACATATGT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATTATATATGTAATATATATTATATATTATATATGTAAT ATATATTATATATGTAATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	174	0.0057	921	c.342 others(942): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATATTACATATGTAATATATATTATATATGTAATATATTATATATTAT ATATGTAATATATATTATATATGTAATATATATTATATATGTAATATATA TTATATATGTAATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATATTATATATGTAATATATTACATATATAATATATATTACA TATATAATATATATTACATATGTAATATATATTATATATGTAATATATAA TATATATTATATATGTAATATATATTATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATATTATATATGTAATAT ATATTATATATTATATATGTAATATATATTATATATGTAATATATGTAAT ATATATTATATATGTAATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNST_chr1_246561456_246673595	246613654	T T	TCCCCCTC others(914): Show TCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTC CCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCT CCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCC TCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTC TCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCT CACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCC CTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCT CACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCC CTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTC CTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCC CTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCC CTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCT CTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCC CTCTCCCCATCTCCTCCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTC TCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCA TCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCT CCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCAT CTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCC CCTCCCCCTCCCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	318	0.0031	921	c.380 others(938): Show c.380-7774_380-7773insCCCCTCTCCCTCTCTCCCTCTCTCCCTC TCCTCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTC TCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCT CTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTC CCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCC CTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTC CCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCT CTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCT TTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCC GTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCC CTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCT CTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCC CCCTCTCTCCCTCTCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCT CTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCTCCTCCCCCCCTTCTC CCTCTCCCACCCTCTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCT CCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCC CCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTC CCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCC TCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(914): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTACCACCACTACCACCACCACCACTATAA CCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACCACT ACTATAACCATTACCACCATCACTACTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACTATAACCACCATCATCACCACCACCACTATAACC ACCATCATCATCACCACCACTACCACTACTGTAACCATCACCACCATCAC TGCTATAACCACCACCACCACCACTATAACCACCACCACCATCACCACTA TAACCACCACTACCACCACCACCATTATAACCATCACCACCACCACTATA ACCACCATCATCATCACCACCACTACCACTACTACAACCATTACCACCAT CACTGCTATAACCACCACCACCACCACCACCACTATAACCACCATCATCA TCACCACCACTACCACTACTATAACCATCACCACCATCACTGCTATAACC ACCACCACCACCACTATAACCACCACCACCACCACCACCACCACTATAAT CATTACCACTATAACCACCACTACCACCACTACCACTATGATAACCATCA CCAACACCACTATAACCACCATCATCATCACCACCACTACCACTACTATA ACCATTACCACCATCACTGCTATAACCACCACCACCACCACTATAACCAT CACCACCATCACCACTATAACCACCACTACCACCACCACCATTATAACCA TCACCACCACCGCTATAACCACCATCATCATCACCACCACTACCACTACT GTAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02723.hp1 others(2): Show HG01106.hp2 HG01891.hp2 HG02723.hp1 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0002t0015 a0001c0004t0037 a0001c0005t0047 others(2): Show a0001c0002t0015 a0001c0004t0037 a0001c0005t0047 a0001c0005t0051 a0001c0006t0009	a0001c0002t0015g0181 a0001c0004t0037g0077 a0001c0005t0047g0213 others(2): Show a0001c0002t0015g0181 a0001c0004t0037g0077 a0001c0005t0047g0213 a0001c0005t0051g0212 a0001c0006t0009g0173	5	49	0.1020	921	c.724 others(940): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGCGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTATA GTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGTTGGTGAT GGTTATCATAGTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTA TAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTT ATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGAT GATGGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGATGG TGGTAATGGTTGTAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATA GTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGT GGTGATGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGA TGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTT ATAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTGGTTATAGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAG TGGTGGTGGTGGTGGTTATAGTAGTGATGGTGGTAATGGTTATAGTAGTG GTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTAT AGTGGTGGTGGTGGTAGTGGTGGTAGTGGTGATGGTGGTGATGGTTATAG TGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(914): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACCACACATCACACCATTCCACCACACAACAC ACCACACATCACTCCACAAAACACCACACACACGCCACACCACTCCACAC ACAGCACACCACTCCACACACAGCACACCACTCCACACACACCACACACC ACACGCCACAGCACACCACACATCACACCACACACTACCACACCACACAC CACTCCACACCACATACCACTCCACACCAAAACATACCACACCACGCCAC ACCACTCCACACAACGTGCCACACACCAGTCCACACCAAACCACACACCA CACACCACACATCACTCCACACCCCACACCACACACCACTCCACACACAC CACACACCACTCCACACCAAACCACACCACTCCACACCAAACCACACCAT GACACACCAAACCACACCACACACATCACACCACACCACACCATGCCATA TGACTCCACACACCAGACCACACCACATACCACTCCACACCACACCCCAC TCCACACACCATGCCACACACACTACACCACACACACCACACACACCAAA CCACACCACACCACTCCACACACTTCACACCAAACCACACACCCCACCAC ACACACTCCACACCAAACCACATCACACCACACCACTCCACACCATACAC ATCTCATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCA CACCAAACCACACACCATGCCACACCACTCCATATGACACACACCACGGC ACACACCACATACCACACTCCACACCAAACCACACCACACCATATACCAC ACCACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03017.hp2 HG00673.hp1 HG03017.hp2	a0002 a0002	a0002c0011 a0002c0015 a0002c0011 a0002c0015	a0002c0011t0017 a0002c0015t0022 a0002c0011t0017 a0002c0015t0022	a0002c0011t0017g0073 a0002c0015t0022g0222 a0002c0011t0017g0073 a0002c0015t0022g0222	2	11	0.1818	921	c.310 others(936): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGAGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTTTGGTGT GTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGGTG TGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCAT GGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATGGTGTG GTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGT GGAGTGGTGTGTGGTGTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGTGT GGTTTGGTGTGGACTGGTGTGTGGCACGTTGTGTGGAGTGGTGTGGCGTG GTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGTGG TGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGTGTGTG GTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTGTGTGGAG TGGTGTGGCGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTG TGGTGGAATGGTGTGATGTGTGGTGTGTGTGGTGTGTGTGTGTGTGGAGT GGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGT GGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPRIN1_chr5_176590802_176615156	176591754	A A	ATGATGGT others(914): Show ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	394	0.0025	921	c.50 others(932): Show c.5053_*5054insCCTCAACACCAACACCATCATCACCACCATCACC ATCACCACCATCACCATCACCTCAACACCAACACCATCATCACCACCATC ACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACC ATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACC ACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATC ACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATC ATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACC ATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAAC ACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC AACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCATCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4047		chr5	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATATT others(914): Show TATATATTTTATATATAATATATATTTTATATATATTATATATTTTATAT ATAATATATATTTTATATATATTATATATTTTATATATAATATATATTTT ATATATAATATATATTTTATATATATTATATATTTTATATATAATATATA TTTTATATATATTATATATTTTATATATATTATATATATATTATATATAA TATATATTATATATAATATATATATTATATAAAATATATAATATATATCT TATATATATCATATATTTTATATATATCATATATTTTATATATATCATAT ATTTTATATATAATATATATTATATATACATTATATAATATATATTATAT TATATATAATATATTATATAATATATATTATATATTATACGTAATATACA ATGTATATTATATGTAATATACATTATATAATGTATATTATATATAATAT ACATTATATACAATGTATATTATATATAATATACATTGTATATAATGTAT ATTACATATAATATACATTATATAATGTATATTACATATAATATACATTG TATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACA TATAATATACATTATATATAATGTGTATATTACATGTAATATACATTATA TATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTACA TGTAATATATACATTATATATAATGTATATATTATATGTAATATATACAT TATATATAATGTATATATTACATGTAATATATACATTATATATAATGTAT ATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATAT ACATTATATATAATGTATATTATATGTAATATATACATTATATAATGTAT ACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	132	0.0076	921	c.94- others(934): Show c.94-787_94-786insATATATTTTATATATAATATATATTTTATATA TATTATATATTTTATATATAATATATATTTTATATATATTATATATTTTA TATATAATATATATTTTATATATAATATATATTTTATATATATTATATAT TTTATATATAATATATATTTTATATATATTATATATTTTATATATATTAT ATATATATTATATATAATATATATTATATATAATATATATATTATATAAA ATATATAATATATATCTTATATATATCATATATTTTATATATATCATATA TTTTATATATATCATATATTTTATATATAATATATATTATATATACATTA TATAATATATATTATATTATATATAATATATTATATAATATATATTATAT ATTATACGTAATATACAATGTATATTATATGTAATATACATTATATAATG TATATTATATATAATATACATTATATACAATGTATATTATATATAATATA CATTGTATATAATGTATATTACATATAATATACATTATATAATGTATATT ACATATAATATACATTGTATATAATGTATATTACATATAATATACATTGT ATATAATGTATATTACATATAATATACATTATATATAATGTGTATATTAC ATGTAATATACATTATATATAATGTATATTATATGTAATATATACATTAT ATAATGTGTATATTACATGTAATATATACATTATATATAATGTATATATT ATATGTAATATATACATTATATATAATGTATATATTACATGTAATATATA CATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTA TATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATA TACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(914): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATAATATATATTTTATATATATTATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATATATTATATATAATA TATATTATATATAATATATATATTATATAAAATATATAATATATATCTTA TATATATCATATATTTTATATATATCATATATTTTATATATATCATATAT TTTATATATAATATATATTATATATACATTATATAATATATATTATATTA TATATAATATATTATATAATATATATTATATATTATACGTAATATATAAT GTATATTATATATAATATACATTATATAATGTATATTATATATAATATAC ATTATATACAATGTATATTACATATAATATACATTATATAATGTATATTA CATATAATATACATTGTATATAATGTATATTACATATAATATACATTGTA TATAATGTATATTACATATAATATACATTATATATAATGTGTATATTACA TGTAATATACATTATATATAATGTATATTATATGTAATATATACATTATA TAATGTGTATATTATATGTAATATATACATTATATAATGTGTATATTATA TGTAATATATACATTATATATAATGTATATATTATATGTAATATATACAT TATATATAATGTATATATTACATGTAATATATACATTATATATAATGTAT ATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATAT ACATTATATATAATGTATATTATATGTAATATATACATTATATAATGTAT ACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	132	0.0076	921	c.94- others(934): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATATATTATATATAATATATATTATATATAATATATATATTATATAAAAT ATATAATATATATCTTATATATATCATATATTTTATATATATCATATATT TTATATATATCATATATTTTATATATAATATATATTATATATACATTATA TAATATATATTATATTATATATAATATATTATATAATATATATTATATAT TATACGTAATATATAATGTATATTATATATAATATACATTATATAATGTA TATTATATATAATATACATTATATACAATGTATATTACATATAATATACA TTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATTACATATAATATACATTATAT ATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATAT GTAATATATACATTATATAATGTGTATATTATATGTAATATATACATTAT ATAATGTGTATATTATATGTAATATATACATTATATATAATGTATATATT ATATGTAATATATACATTATATATAATGTATATATTACATGTAATATATA CATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTA TATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATA TACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(914): Show CCACCACTACCCCCAGCACTACCACCATCACCTCCTCCACCATCACCACC ACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCAC CATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCC CCACCACTACCACCATCACCATCACCTCCACCACCACCACCATCTCCTTC ATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCAC CACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTT CCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATT ATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCAC CATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCA CCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAAC ACCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCAC CATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCT CCACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACC ATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCAC CACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCA CCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACC ACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCAT CTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCA CCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	225	0.0044	921	c.804 others(938): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTG GTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGT AGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGA TGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTG GTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAA GGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGG TAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAG GAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGT GGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGG TGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTG GTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGA GATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAG TGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATA GTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGT GATGGTGGAGGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar

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