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
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(491): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGAT CTGTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGT ATACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	282	0.0035	498	c.366 others(515): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACACATATGTATACA GATCTGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TCTGTATACATATGTATACAGATCTGTATACACATATGTATACAGATATG TATACATATGTATACAGATATGTATACAGATATGTATACACATATGTATA TACAGATATGTATACACATATGTATACAGATATGTATACACATATGTATA TACAGATATGTATACACATATGTATATACAGATATGTATACACATATGTA TACAGATATGTATACATATGTATACAGATATGTATATACATATGTATACA GATATGTATATACATATGTATACAGATATGTATACATATGTATACAGATA TGTATATACATATGTATACAGATATGTATATACAGATATGTATACAGATA TGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CAPN11_chr6_44153820_44189401	44182117	A A	ACACTCAC others(491): Show ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACATACACACTCACATACAGACACAAC CACACCACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	443	0.0023	498	c.193 others(515): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACATACAGACACAACCACACCACACTCACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACTCACATACAGACACAACCACACCACACACACACAC ACTCACATACAGACACAACCACACCACACTCACACACACACACACTCACA TACAGACACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(491): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTAT ATACTATATATACACTATATATAGCATATATACTATATATACACTATATA TAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTTT ATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTTTATATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0047 a0003c0006t0001g0047	1	27	0.0370	498	c.349 others(513): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTAT ATACTATATATACACTATATATAGCATATATACTATATATACACTATATA TAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTTT ATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTTTATATATATACTATATATA CTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(491): Show GTGTGTATACACATACATATATACATATGTGTGTATACACATACATATAT ACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGTATAC ACATACATATATACATATGTGTGTATACACACATATATACATATGTGTGT ATACACATACATATATACATATGTGTGTGTATACACACATATATACATAT GTGTGTGTATACACACACACATATGTATATATGTATGTGTATACACACAC ATATATGTATATATGTATGTGCATACACACACACACGTATATATGTATGT GTATACACATACATATATACATATGTGTGTGTATACACATACATATATAC ATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGTGTATAC ACATACATATATACATATGTGTGTATACACACATATATACATATGTGTGT ATACACATACATATATACATATGTGTGTGTATACACACATATATACATA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	143	0.0070	498	c.253 others(517): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACGTGTGTGTGTGTA TGCACATACATATATACATATATGTGTGTGTATACACATACATATATACA TATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACACATATGTATATATG TATGTGCATACACACACATATGTATATATGTATGTGTATACACACATATG TATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(491): Show GTGTGTATACACATACATATATACATATGTGTGTATACACATACATATAT ACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGTATAC ACATACATATATACATATGTGTGTATACACACATATATACATATGTGTGT ATACACATACATATATACATATGTGTGTGTATACACACATATATACATAT GTGTGTGTATACACACACACATATGTATATATGTATGTGTATACACACAC ATATATGTATATATGTATGTGCATACACACACACATGTATATATGTATGT GTATACACATACATATATACATATGTGTGTGTATACACATACATATATAC ATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGTGTATAC ACATACATATATACATATGTGTGTATACACACATATATACATATGTGTGT ATACACATACATATATACATATGTGTGTGTATACACACATATATACATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0013 a0001c0001t0030g0013	1	143	0.0070	498	c.253 others(517): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACATGTGTGTGTGTA TGCACATACATATATACATATATGTGTGTGTATACACATACATATATACA TATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACACATATGTATATATG TATGTGCATACACACACATATGTATATATGTATGTGTATACACACATATG TATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960258	T T	TACATATA others(491): Show TACATATATACATATGTGTGTGTATGCACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTATACACACATATATACA TATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACACA TATATACATATGTGTGTGTATACACACACATATGTATATATGTATGTGTA TACACACACATATATGTATATATGTATGTGCATACACACACACATGTATA TATGTATGTGTATACACATACATATATACATATGTGTGTGTATACACATA CATATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTG TGTGTATACACATACATATATACATATGTGTGTATACACACATATATACA TATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATA TATACATATGTGTGTATACACATACATATATACATATGTGTGTATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0075 a0001c0001t0019g0075	1	152	0.0066	498	c.253 others(517): Show c.253-58786_253-58785insGTGTATACACACATATGTATATATGT ATGTGTATACACACATATGTATATATGTGTGTATACACACACATATGTAT ATATGTATGTGTATACACACATATGTATATATGTGTGTATACACACATAT GTATATATGTATGTGTATACACACACATATATGTATATGTGTATGTGCAT ACACACACACACATGTATATATGTATGTGTATACACACACATATGTATAT ATGTATGTGTATACACATACATATATACATGTGTGTGTGTATGCACATAC ATATATACATATATGTGTGTGTATACACATACATATATACATATGTGTGT GTATACACACACATATGTATATATGTGTGTGTATACACACACATATGTAT ATATGTATGTGTATACACACATATGTATATATGTGTGTATACACACATAT GTATATATGTATGTGTATACACACACACATATGTATATATGTATGTGCAT ACACACACATATGTATATATGT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(491): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	8	0.1250	498	c.69 others(509): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCC CCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
COL19A1_chr6_69861556_70217468	69920979	T T	TGATATAT others(491): Show TGATATATATCATATATACATATGATATATACATGATATATATGATATAT ATGATACATATGATATATATGATATATATGATACATATGATATATATGAT ATATATATGATACAAATGATATATATGATATATATGATATATATCAGATA TATATATCATATATATCATATATATCATTTGTATCATATATATATCATAT ATATCATATGTATCATATATATCATATATATCATGTATATATCATATATA TCATATATGTATTCATATATATCATATATTCATATATAATATATATTCAT ATATCATATATATTCATATATATCATATAAATTCATATATCATATATATT CATATATATCATATATATTCATATATATATCATATATATTCATATATATC ATATATATTCATATATATATCATATATATTCATATATATCATATATATTC ATATATATCATATATATTCATATATATATCATATATATTCATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0075 a0002c0003t0031g0075	1	150	0.0067	498	c.267 others(515): Show c.267-6930_267-6929insGATATATATCATATATACATATGATATA TACATGATATATATGATATATATGATACATATGATATATATGATATATAT GATACATATGATATATATGATATATATATGATACAAATGATATATATGAT ATATATGATATATATCAGATATATATATCATATATATCATATATATCATT TGTATCATATATATATCATATATATCATATGTATCATATATATCATATAT ATCATGTATATATCATATATATCATATATGTATTCATATATATCATATAT TCATATATAATATATATTCATATATCATATATATTCATATATATCATATA AATTCATATATCATATATATTCATATATATCATATATATTCATATATATA TCATATATATTCATATATATCATATATATTCATATATATATCATATATAT TCATATATATCATATATATTCATATATATCATATATATTCATATATATAT CATATATATTCATATATATA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(491): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCATGAGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	214	0.0047	498	c.925 others(513): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGAGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(491): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01243.hp2 others(17): Show HG00438.hp1 HG00558.hp1 HG01243.hp2 HG01433.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02145.hp2 HG02155.hp2 HG02486.hp1 HG03492.hp1 HG03688.hp2 NA18747.hp1 NA18943.hp2 NA18967.hp1 NA18969.hp1 NA18986.hp1 NA19004.hp1 NA19004.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0001c0027 others(4): Show a0001c0002 a0001c0008 a0001c0027 a0001c0028 a0001c0056 a0001c0057 a0002c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0008t0001 a0001c0008t0002 a0001c0008t0011 a0001c0027t0002 a0001c0028t0004 a0001c0028t0038 a0001c0056t0001 a0001c0057t0002 a0002c0017t0003	a0001c0002t0001g0051 a0001c0002t0001g0114 a0001c0002t0001g0144 others(17): Show a0001c0002t0001g0051 a0001c0002t0001g0114 a0001c0002t0001g0144 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0002g0030 a0001c0002t0002g0096 a0001c0002t0002g0126 a0001c0002t0003g0154 a0001c0002t0005g0050 a0001c0002t0005g0211 a0001c0008t0001g0116 a0001c0008t0002g0092 a0001c0008t0011g0091 a0001c0027t0002g0090 a0001c0028t0004g0213 a0001c0028t0038g0138 a0001c0056t0001g0084 a0001c0057t0002g0024 a0002c0017t0003g0163	20	233	0.0858	498	c.925 others(513): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(491): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp1 HG01261.hp2 others(18): Show HG00323.hp1 HG00673.hp1 HG01261.hp2 HG01515.hp1 HG01993.hp1 HG02080.hp2 HG02273.hp1 HG02965.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18943.hp1 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19011.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp1 NA19085.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0002 a0001c0003 a0001c0061 others(3): Show a0001c0002 a0001c0003 a0001c0061 a0002c0017 a0004c0029 a0013c0055	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0055 a0001c0002t0056 a0001c0003t0028 a0001c0003t0044 a0001c0061t0013 a0002c0017t0003 a0004c0029t0002 a0004c0029t0005 a0013c0055t0007	a0001c0002t0001g0059 a0001c0002t0001g0209 a0001c0002t0001g0236 others(18): Show a0001c0002t0001g0059 a0001c0002t0001g0209 a0001c0002t0001g0236 a0001c0002t0002g0124 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0025 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0011g0093 a0001c0002t0055g0152 a0001c0002t0056g0162 a0001c0003t0028g0135 a0001c0003t0044g0185 a0001c0061t0013g0178 a0002c0017t0003g0223 a0004c0029t0002g0097 a0004c0029t0005g0100 a0013c0055t0007g0257	21	234	0.0897	498	c.925 others(513): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(491): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	214	0.0047	498	c.925 others(513): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(491): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0130 a0001c0027t0001g0130	1	214	0.0047	498	c.925 others(513): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(491): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0004 a0001c0060t0004	a0001c0060t0004g0240 a0001c0060t0004g0240	1	214	0.0047	498	c.925 others(513): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRTC1_chr19_18678680_18787333	18689482	G G	GTGTAGTA others(491): Show GTGTAGTAGCACAGTCATGGCTCACTGCAACCTCTGCCTCCCGAGTTCAA GCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGC CACCACACCCTGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCA TGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGACCCGCCCGCCT CAGCCTCCCAAAATGCTGAGATTACAGGCGTGAACCACTGTGCCTGGCCT CCATTTATTTCTTAAAATTGGTGGCATGGACAGACGCAGTGGCTCATGCC TGTAACCCCAGCACTTTGGGAGGCCAAGGAGGTGGGCGGATCACCTGAGG TTGGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCTGGATGTGGTGGCGCACGCCTGTAATCCCAGC TACTTGGGAGGCTGAGGCGGAGAATTGCTTGATCCCGGGAGGCGGAGGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0145 a0001c0001t0018g0145	1	2	0.5000	498	c.126 others(515): Show c.126+5656_126+5657insTAGTAGCACAGTCATGGCTCACTGCAAC CTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC TGGGATTACAGGCGCCTGCCACCACACCCTGCTAAGTTTTGTATTTTTAG TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACC TCAGGTGACCCGCCCGCCTCAGCCTCCCAAAATGCTGAGATTACAGGCGT GAACCACTGTGCCTGGCCTCCATTTATTTCTTAAAATTGGTGGCATGGAC AGACGCAGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGAG GTGGGCGGATCACCTGAGGTTGGGAGTTCGAGACTAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGTGGTGGC GCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGAGAATTGCTTG ATCCCGGGAGGCGGAGGTTG	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18689482	G G	GTGTAGTA others(491): Show GTGTAGTAGCACAGTCATGGCTCACTGCAACCTCTGCCTCCCGAGTTCAA GCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGC CACCACACCCTGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCA TGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCT CAGCCTCCCAAAATGCTGAGATTACAGGCGTGAACCACTGTGCCTGGCCT CCATTTATTTCTTAAAATTGGTGGCATGGACAGACGCAGTGGCTCATGCC TGTAACCCCAGCACTTTGGGAGGCCAAGGAGGTGGGCGGATCACCTGAGG TTGGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCTGGATGTGGTGGCGCACGCCTGTAATCCCAGC TACTTGGGAGGCTGAGGCGGAGAATTGCTTGATCCCGGGAGGCGGAGGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp2 HG03831.hp2 HG04115.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0156 a0002c0005t0003g0270 a0002c0005t0003g0156 a0002c0005t0003g0270	2	3	0.6667	498	c.126 others(515): Show c.126+5656_126+5657insTAGTAGCACAGTCATGGCTCACTGCAAC CTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC TGGGATTACAGGCGCCTGCCACCACACCCTGCTAAGTTTTGTATTTTTAG TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACC TCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGAGATTACAGGCGT GAACCACTGTGCCTGGCCTCCATTTATTTCTTAAAATTGGTGGCATGGAC AGACGCAGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGAG GTGGGCGGATCACCTGAGGTTGGGAGTTCGAGACTAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGTGGTGGC GCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGAGAATTGCTTG ATCCCGGGAGGCGGAGGTTG	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18689482	G G	GTGTAGTA others(491): Show GTGTAGTAGCACAGTCATGGCTCACTGCAACCTCTGCCTCCCGAGTTCAA GCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGC CACCACACCCTGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCA TGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCT CAGCCTCCCAAAATGCTGAGATTACAGGCGTGAACCACTGTGCCTGGCCT CCATTTATTTCTTAAAATTGGTGGCATGGACAGACGCAGTGGCTCATGCC TGTAACCCCAGCACTTTGGGAGGCCAAGGAGGTGGGCGGATCACCTGAGG TTGGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCTGGATGTGGTGGCGCACGCCTGTAATCCCAGC TACTTGGGAGGCTGAGGCGGAGAATTGCTTGATCCCGGGAGGCGGAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(261): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0005 a0003c0004 a0004c0009 a0005c0008 a0006c0010 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0003t0002 a0001c0003t0024 a0001c0003t0025 a0001c0003t0028 a0001c0007t0008 a0002c0002t0003 a0002c0002t0010 a0002c0002t0016 a0002c0002t0017 a0002c0002t0020 a0002c0002t0021 a0002c0005t0003 a0003c0004t0002 a0003c0004t0023 a0003c0004t0026 a0004c0009t0001 a0005c0008t0003 a0006c0010t0001 a0007c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(260): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0124 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0002g0211 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0259 a0001c0001t0003g0044 a0001c0001t0003g0143 a0001c0001t0003g0253 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0037 a0001c0001t0004g0069 a0001c0001t0004g0101 a0001c0001t0004g0111 a0001c0001t0005g0034 a0001c0001t0005g0059 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0104 a0001c0001t0005g0129 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0006g0040 a0001c0001t0006g0049 a0001c0001t0006g0081 a0001c0001t0006g0088 a0001c0001t0006g0100 a0001c0001t0006g0237 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0007g0121 a0001c0001t0008g0132 a0001c0001t0008g0142 a0001c0001t0008g0252 a0001c0001t0009g0147 a0001c0001t0009g0249 a0001c0001t0011g0014 a0001c0001t0011g0070 a0001c0001t0012g0167 a0001c0001t0012g0188 a0001c0001t0013g0050 a0001c0001t0013g0110 a0001c0001t0014g0091 a0001c0001t0015g0005 a0001c0001t0019g0035 a0001c0001t0022g0152 a0001c0001t0027g0004 a0001c0001t0029g0051 a0001c0001t0030g0076 a0001c0001t0031g0247 a0001c0001t0032g0218 a0001c0003t0002g0001 a0001c0003t0002g0026 a0001c0003t0002g0071 a0001c0003t0002g0126 a0001c0003t0002g0161 a0001c0003t0002g0163 a0001c0003t0002g0207 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0260 a0001c0003t0002g0271 a0001c0003t0024g0201 a0001c0003t0025g0203 a0001c0003t0028g0116 a0001c0007t0008g0041 a0002c0002t0003g0032 a0002c0002t0003g0102 a0002c0002t0003g0107 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0177 a0002c0002t0003g0185 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0204 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0223 a0002c0002t0003g0225 a0002c0002t0003g0238 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0010g0172 a0002c0002t0010g0263 a0002c0002t0016g0103 a0002c0002t0017g0173 a0002c0002t0020g0245 a0002c0002t0021g0246 a0002c0005t0003g0200 a0003c0004t0002g0028 a0003c0004t0002g0030 a0003c0004t0002g0219 a0003c0004t0002g0221 a0003c0004t0002g0222 a0003c0004t0023g0029 a0003c0004t0026g0220 a0004c0009t0001g0093 a0005c0008t0003g0146 a0006c0010t0001g0150 a0007c0006t0001g0148	264	265	0.9962	498	c.126 others(515): Show c.126+5656_126+5657insTAGTAGCACAGTCATGGCTCACTGCAAC CTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC TGGGATTACAGGCGCCTGCCACCACACCCTGCTAAGTTTTGTATTTTTAG TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACC TCAGGTGATCCGCCCGCCTCAGCCTCCCAAAATGCTGAGATTACAGGCGT GAACCACTGTGCCTGGCCTCCATTTATTTCTTAAAATTGGTGGCATGGAC AGACGCAGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGAG GTGGGCGGATCACCTGAGGTTGGGAGTTCGAGACTAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGTGGTGGC GCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGAGAATTGCTTG ATCCCGGGAGGCGGAGGTTG	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18689482	G G	GTGTAGTA others(491): Show GTGTAGTAGCACAGTCATGGCTCACTGCAACCTCTGCCTCCCGAGTTCAA GCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGC CACCACACCCTGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCA TGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCT CAGCCTCCCAAAATGCTGAGATTACAGGCGTGAACCACTGTGCCTGGCCT CCATTTATTTCTTAAAATTGGTGGCATGGACAGACGCAGTGGCTCATGCC TGTAACCCCAGCACTTTGGGAGGCCAAGGAGGTGGGCGGATCACCTGAGG TTGGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCTGGATGTGGTGGCGCACGCCTGTAATCCCAGC TACTTGGGAGGCTGAGGCGGAGAATTGCTTGATCCCGGGAGGCGGAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01168.hp2 others(1): Show HG00099.hp2 HG01070.hp2 HG01168.hp2 HG01169.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0135 a0001c0001t0001g0248 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0248 a0001c0001t0001g0250 a0002c0002t0003g0136	4	5	0.8000	498	c.126 others(515): Show c.126+5656_126+5657insTAGTAGCACAGTCATGGCTCACTGCAAC CTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC TGGGATTACAGGCGCCTGCCACCACACCCTGCTAAGTTTTGTATTTTTAG TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACC TCAGGTGATCCGCCTGCCTCAGCCTCCCAAAATGCTGAGATTACAGGCGT GAACCACTGTGCCTGGCCTCCATTTATTTCTTAAAATTGGTGGCATGGAC AGACGCAGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGAG GTGGGCGGATCACCTGAGGTTGGGAGTTCGAGACTAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGTGGTGGC GCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGAGAATTGCTTG ATCCCGGGAGGCGGAGGTTG	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(491): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGG AGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0171 a0003c0003t0012g0171	1	97	0.0103	498	c.923 others(517): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCC CTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCC CTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCCTCCCTCCCTCCCTCCC TCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTC CCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(491): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	325	0.0031	498	c.-42 others(509): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(491): Show CCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAG CCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCA CCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCC CTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCG GATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACG GCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	73	0.0137	498	c.86- others(515): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTG GGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGT CCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGG CTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGG GTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC CGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGAT CCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGG AGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGT GGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCT GGGATCCGGCTGTGGGAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1337418	G G	GGATGATG others(491): Show GGATGATGGTGTTGGTGAGAATGATGGTGATGATGTGACGGTGAGGATGA TGGTGGTAGTGAGGATGATGGTGAGAATGATGGTGAGGAAGATGGTGGTG AGGATAATGGTGATGGTGAGAATGATGGTGAGGATGATGGTGGTGAGGAT AATGGTGATGGTGAGGATGATGACGGTGAGAATGATGATGGTGATGGTGA GGATGATGGTGGTAGTGAGGATGATAATGGTGAGAGTGAGGGTGATGGTG GTGAGGATAATGATGATGGTGAGGATGATGACAGTGAGGATGATGATGAT GGTGAGGATGATGGTGGTGAGGATAATGGTGATGATGAGGATGATGGTGG TGAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATGAAGATGATG GTGATGGTGACGATGATGGTGGTAGTGAGGGTGATGATGGTGAGAATTAT GGTGAGGATGATGGTGGTGAGGATGGTGATGGTGATGCTGATGACTGAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0001 a0001c0002t0022	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0002t0001g0015 a0001c0002t0022g0034	2	16	0.1250	498	c.106 others(517): Show c.106+78545_106+78546insTTGGTGAGAATGATGGTGATGATGTG ACGGTGAGGATGATGGTGGTAGTGAGGATGATGGTGAGAATGATGGTGAG GAAGATGGTGGTGAGGATAATGGTGATGGTGAGAATGATGGTGAGGATGA TGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATGATG ATGGTGATGGTGAGGATGATGGTGGTAGTGAGGATGATAATGGTGAGAGT GAGGGTGATGGTGGTGAGGATAATGATGATGGTGAGGATGATGACAGTGA GGATGATGATGATGGTGAGGATGATGGTGGTGAGGATAATGGTGATGATG AGGATGATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACGGTGAG AATGAAGATGATGGTGATGGTGACGATGATGGTGGTAGTGAGGGTGATGA TGGTGAGAATTATGGTGAGGATGATGGTGGTGAGGATGGTGATGGTGATG CTGATGACTGATGATGATGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400981	C C	CATCACCA others(491): Show CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCT TCACCATCACCATCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCA TCACCACCACCTCCACCATCACCACCTCCTTCACCACCACCACTTCCACC ATCACCACCTCCTTCACCACCACCTCCACCACCACCTCCACCACCACCTC CACCACCACCACCTCCACCACCACCACTTCCACCATCACCACCTCCTTCA CCATCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACC CTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCT GCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0117 a0008c0117	a0008c0117t0001 a0008c0117t0001	a0008c0117t0001g0016 a0008c0117t0001g0016	1	142	0.0070	498	c.323 others(517): Show c.3234+1723_3234+1724insTCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCAC CTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCA CCATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCTC CTTCACCACCACCACTTCCACCATCACCACCTCCTTCACCACCACCTCCA CCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACT TCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCCTCACCACCTTCTCCACCACCACCATCT TCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTT CCTATCACCTCCAATATCACTA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634538	C C	CCCTTTCC others(491): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	213	0.0047	498	c.105 others(515): Show c.105-1370_105-1369insCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(491): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATAGTGTATATATACACTGTATATGTATATATAGTGTATATATACACTA TACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATATG TATATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTA TATATACACTATACACTGTATATGTATATATAGTGTATATATACACTATA TATACACTATATAGTGTATATATAGTATATATATATACTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03471.hp1 HG01934.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0174 a0001c0001t0001g0175	2	56	0.0357	498	c.114 others(517): Show c.1143+6991_1143+6992insATATATATACAGTATATATATATACT ATATATACACTATATAGTGTATATATAGTGTATATATACACTATATATAC ATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTAT AGTGTATATATACACTATATATACATATACAGTGTATAGTGTATATATAC ACTATATATACATATACAGTGTATAGTGTATATATACACTATATATACAT ATACAGTGTATATATACACTATATATACACTATATATACATATACAGTGT ATATATAGTGTATATATACACTATATATACATATACAGTGTATATATACA CTATATATACACTATATATGTATATATATACATATATAGTGTATATATAG TGTATATATACTATATATATAGTGTATATATACTATATATATAGTGTATA TACACTATATATATAGTGTATATATACTATATATAGTGTATATATACTAT ACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCACCATC others(491): Show CCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0074 a0001c0001t0044g0074	1	258	0.0039	498	c.666 others(515): Show c.666+1789_666+1790insTCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(491): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTGGAGACGGAGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00735.hp1 others(80): Show HG00438.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0016 a0001c0002t0019 a0001c0003t0001 a0002c0005t0017 a0003c0006t0001	a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0071 others(74): Show a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0210 a0001c0001t0001g0262 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0379 a0001c0001t0004g0405 a0001c0001t0006g0021 a0001c0001t0006g0287 a0001c0001t0006g0289 a0001c0001t0009g0310 a0001c0001t0009g0315 a0001c0001t0011g0037 a0001c0002t0001g0003 a0001c0002t0001g0024 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0070 a0001c0002t0001g0086 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0135 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0235 a0001c0002t0001g0249 a0001c0002t0001g0255 a0001c0002t0001g0270 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0305 a0001c0002t0001g0380 a0001c0002t0001g0381 a0001c0002t0007g0003 a0001c0002t0007g0143 a0001c0002t0008g0350 a0001c0002t0014g0161 a0001c0002t0016g0155 a0001c0002t0019g0328 a0001c0003t0001g0018 a0002c0005t0017g0311 a0003c0006t0001g0014 a0003c0006t0001g0197	83	170	0.4882	498	c.146 others(515): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTGGAGACGGAGCCTCACT CTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(491): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACTACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTGGAGACGGAGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01261.hp1 others(13): Show HG01081.hp1 HG01081.hp2 HG01261.hp1 HG01361.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02080.hp2 NA18747.hp2 NA18943.hp1 NA18999.hp2 NA19075.hp2 NA19084.hp1 NA19090.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0013 a0001c0001 a0001c0002 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0004c0013t0001 a0001c0001t0001 a0001c0002t0001 a0004c0013t0001	a0001c0001t0001g0167 a0001c0001t0001g0364 a0001c0002t0001g0002 others(8): Show a0001c0001t0001g0167 a0001c0001t0001g0364 a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0095 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0004c0013t0001g0182	16	103	0.1553	498	c.146 others(515): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACTACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTGGAGACGGAGCCTCACT CTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(491): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATTTATATATAAATATA TATAAATATACATTTATATATAAATATATATAAATATACATTTATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0090 a0001c0003t0014g0090	1	169	0.0059	498	c.-97 others(515): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRID1_chr10_85594552_86371795	86121548	T T	TATCTCAC others(491): Show TATCTCACCATCATTATCACCATCAGCATCATCATCACCATCATTATCAC CATCATCATAATCATCATCACAATCATCATCATCACCACCATCACCATCA TCACCATCACCATTACCATCATCACCATCACCATCATCATCACTACCATC ATCACCATCATCACCATCACCATCATCATCACTACCATCATCACCATCAT CACCATCACCATTATCTCACCATCATTATCACCATCAGCATCATCATCAC CATCATTATCACCATCATCATAATCATCATCACAATCATCATCATCACCA TCACCATCATCACCATCACCATTACCATCATCACCATTATCACCACCATC ACCATCATCTTACCATCATTATCACCATCATCATCACCATCACCACCATC ATTACCATTACCATCATCTCACCATCATTATCACCATCATCATCACACTG TCACCAACATCTCACTATCATTATCACCACCATCATCACCATTACCATC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0029 a0001c0001t0026g0029	1	50	0.0200	498	c.726 others(517): Show c.726+17270_726+17271insGATGGTAATGGTGATGATGGTGGTGA TAATGATAGTGAGATGTTGGTGACAGTGTGATGATGATGGTGATAATGAT GGTGAGATGATGGTAATGGTAATGATGGTGGTGATGGTGATGATGATGGT GATAATGATGGTAAGATGATGGTGATGGTGGTGATAATGGTGATGATGGT AATGGTGATGGTGATGATGGTGATGGTGATGATGATGATTGTGATGATGA TTATGATGATGGTGATAATGATGGTGATGATGATGCTGATGGTGATAATG ATGGTGAGATAATGGTGATGGTGATGATGGTGATGATGGTAGTGATGATG ATGGTGATGGTGATGATGGTGATGATGGTAGTGATGATGATGGTGATGGT GATGATGGTAATGGTGATGGTGATGATGGTGATGGTGGTGATGATGATGA TTGTGATGATGATTATGATGATGGTGATAATGATGGTGATGATGATGCTG ATGGTGATAATGATGGTGAGAT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15			chr10	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(491): Show TTTTAAATATATAAAATACACTGTTTTATAATATTTTAAATATATAAAAT ACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTA AATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGT TTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATAT AAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATAT ATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp1 HG01891.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0003g0145 a0001c0001t0001g0070 a0001c0001t0003g0145	2	101	0.0198	498	c.132 others(517): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATA TATTTAAATATATAAAACAGTGTATTTTATATATTTAAAATATTATAAAA CAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(491): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCAT CACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCA CCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 HG03139.hp1 others(2): Show HG02280.hp2 HG03130.hp1 HG03139.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0247 a0001c0001t0002g0253 a0001c0001t0003g0006 others(2): Show a0001c0001t0001g0247 a0001c0001t0002g0253 a0001c0001t0003g0006 a0001c0002t0002g0190 a0001c0002t0005g0137	5	229	0.0218	498	c.804 others(515): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATG GTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGT GGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGA TGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATG GTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGT GGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGG TAGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
JAKMIP3_chr10_132060946_132189858	132173136	C C	CCCCCTCC others(491): Show CCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCT CTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCC CTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTC CCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTC CCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCC CTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTC TCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCC CCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTC CCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0030 a0001c0015t0001g0030	1	155	0.0065	498	c.11 others(519): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCT CTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCT CCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCC CCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCT CCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCC TCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCC CTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTGTCTCTCTCCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCT TCCCCCTGTCTCTCTCTCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(491): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0240 a0002c0005t0003g0240	1	237	0.0042	498	c.178 others(515): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGG GGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGA GCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(491): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG02970.hp2 others(8): Show HG01243.hp1 HG02622.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 NA18947.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19067.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0051 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0105 a0001c0001t0001g0151 a0004c0004t0001g0054 a0004c0004t0001g0088 a0004c0004t0001g0102 a0004c0004t0001g0103 a0004c0004t0001g0134	11	162	0.0679	498	c.507 others(515): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(491): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATGCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0145 a0007c0008t0001g0145	1	152	0.0066	498	c.507 others(515): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGCATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(491): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTATATATATATATTTATATATATATAT TTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTATAT ATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATAT ATAGTTATATATATAGTTATATATAGTTATATATATATTTATATATATAT TTTTATATATATATTTATATATATATATTTTTATATATATATTTATATAT ATTTATATATATATTTATATATATAAATATATATATATTTATATATATAT TTATATATATAAATATATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATTTATATATTTATATATGTATTTATATATATTTAT ATATGTATTTATATATATTTATATATAATTATATGTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	80	0.0125	498	c.125 others(515): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT ATATTTATATATATATATTTTTATATATATTTATATATATTTTTATATAT AGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTATATAT AGTTATGTATAGTTATATATAGTTATATATATAGTTATATATAGTTATAT ATATATTTATATATATATTTTTATATATATATTTATATATATATATTTTT ATATATATATTTATATATATTTATATATATATTTATATATATAAATATAT ATATATTTATATATATATTTATATATATAAATATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATTTATATATTTATATAT GTATTTATATATATTTATATATGTATTTATATATATTTATATATAATTAT ATGTATTTATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	953579	A A	ACACCCAC others(491): Show ACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACACACCCCA AACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACATGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTTCACACAGACACGGACCC CAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCCTC CTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCAC ACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCAC CCCACACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAGCC TCCTGCACATCCACACAGACACAGACCCGAAACCAGCCTCCTGCACATCC ACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG01081.hp1 HG01361.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0054 a0001c0005 a0002c0054	a0001c0005t0001 a0002c0054t0001 a0001c0005t0001 a0002c0054t0001	a0001c0005t0001g0113 a0002c0054t0001g0111 a0001c0005t0001g0113 a0002c0054t0001g0111	2	222	0.0090	498	c.503 others(513): Show c.503+777_503+778insGGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCTGTG TCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTG TGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCTGTGTCTGTGTGGA TGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTG GGTGTCTGTGTGGACATGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTG GATGTGCAGGAGGCTGGTTTGGGGTGTGTGTCTGTGTGGACGTGCAGGAG GCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAGCCA others(491): Show AAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC TGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGCA GTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAAT TACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCAT CAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGCG CCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACTC CAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0123 a0001c0004t0001g0123	1	61	0.0164	498	c.363 others(515): Show c.3638-629_3638-628insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAGAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(491): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0061 a0012c0018t0061	a0012c0018t0061g0152 a0012c0018t0061g0152	1	6	0.1667	498	c.368 others(515): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAAGTAAGTGGCCC GGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(491): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0019 a0001c0001t0032g0019	1	6	0.1667	498	c.368 others(515): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGT ATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGG GTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGT ATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(491): Show TATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATTCATATATAGATTCATATATATATTCATATATAGATTCATATATATA TTCATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	155	0.0065	498	c.343 others(515): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATGAATATATATATGAATCTATATATGAATATAT ATATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBP_chr18_76973833_77137783	77117851	A A	ACGGGGGA others(491): Show ACGGGGGACATTGGGTTGGGGTGGGACGGGGGGTCAGTGGGTTGGGGCGG GATGGGGTCAGTGGGTTGGGGTGGGACAGGGACAGGGGGTTGGGGCGGGA TGGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGA TGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATG GGGACAGTGGGTTGGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATG GGGACAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGG ACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGAGTGGGATGGGGAC AGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGACA GTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	364	0.0027	498	c.-25 others(517): Show c.-25-12566_-25-12565insCTGTCCCCATCCCGCCCCAACCCACT GTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTG TCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTC CCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCC CATCCCGCCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCC ATCCCACCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCA TCCCACCCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCAT CCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCC CACCCCAACCCACTGTCCCCCCATCCCGCCCCAACCCCCTGTCCCTGTCC CACCCCAACCCACTGACCCCATCCCGCCCCAACCCACTGACCCCCCGTCC CACCCCAACCCAATGTCCCCCG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(491): Show ATATATATATGTTCATGTATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0307 a0004c0004t0001g0307	1	168	0.0060	498	c.394 others(513): Show c.394-662_394-661insTATATATATGTTCATGTATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MYH15_chr3_108375368_108515596	108419835	T T	TAAAACTG others(491): Show TAAAACTGTGTGCCTCCGTATGTTTATTGCGGCACTATTCACAATAGCAA AGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAA ATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGA GTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCA GTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATA GGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCAC ACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGG AGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCAT GGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCT AAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19087.hp2 NA18978.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0154 a0001c0001t0003g0127 a0001c0001t0003g0154	2	300	0.0067	498	c.382 others(517): Show c.3829+1252_3829+1253insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGGAGGCACACAGTTTT	MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	28/40			chr3	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(491): Show TTCCATCCATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTT GTCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCA TCCATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCAT CCATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0065 a0003c0003t0065	a0003c0003t0065g0143 a0003c0003t0065g0143	1	53	0.0189	498	c.46 others(507): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCAC TTGTCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCC ACCTATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCG TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCC ATCCATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(491): Show TTCCATCCATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTT GTCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCA TCCATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCAT CCATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0072 a0003c0003t0072	a0003c0003t0072g0132 a0003c0003t0072g0132	1	53	0.0189	498	c.46 others(507): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCAC TTGTCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCC ACCTATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCG TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCC ATCCATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571084	T T	TGTGTGTG others(491): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTG TGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTG GCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGG TGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAG CCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	498	c.26 others(509): Show c.2665_*2666insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC GCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCT AGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGT GTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT GGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT CTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGG CTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1590		chr16	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(491): Show GTTTTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA TAGTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTT TTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATATA GTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTT TATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTT AAACTATGTAGTTTTAAACTCTATAGTTTTAAACTATGTAGTTTTAAACT ATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTAT GTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp2 NA18906.hp1 HG02055.hp2 HG03098.hp2 NA18906.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0214 a0001c0011t0002g0215 a0001c0011t0002g0216 a0001c0011t0002g0214 a0001c0011t0002g0215 a0001c0011t0002g0216	3	40	0.0750	498	c.342 others(517): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TAGAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAA CTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT ATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAACT ATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAT ATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTAT ATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACT ATATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(491): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTGTGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	166	0.0060	498	c.-45 others(519): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACACAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar

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