Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
PEX26_chr22_18072990_18110396	18106326	C C	CGTGGTTC others(471): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACAAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTT CAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCT GAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGA GTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGT CTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCT GAAGCCCGAGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0022 a0001c0001t0015g0022	1	362	0.0028	478	c.18 others(491): Show c.18251_*18252insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACA AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAG AGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAA GGACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATG GTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATAC GTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACAT GGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		931		chr22	TogoVar
PEX26_chr22_18072990_18110396	18106326	C C	CGTGGTTC others(471): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTT CAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCT GAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGA GTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGT CTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCT GAAGCCCGAGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01192.hp1 others(21): Show HG00738.hp2 HG01099.hp1 HG01192.hp1 HG01346.hp1 HG02129.hp2 HG02155.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 NA18906.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 others(12): Show a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0087 a0001c0001t0089 a0001c0001t0091 a0001c0001t0093 a0001c0001t0144 a0001c0001t0145 a0002c0002t0044	a0001c0001t0015g0022 a0001c0001t0015g0042 a0001c0001t0021g0014 others(16): Show a0001c0001t0015g0022 a0001c0001t0015g0042 a0001c0001t0021g0014 a0001c0001t0021g0051 a0001c0001t0023g0008 a0001c0001t0024g0034 a0001c0001t0024g0099 a0001c0001t0028g0046 a0001c0001t0028g0151 a0001c0001t0044g0142 a0001c0001t0051g0014 a0001c0001t0052g0014 a0001c0001t0087g0008 a0001c0001t0089g0052 a0001c0001t0091g0014 a0001c0001t0093g0008 a0001c0001t0144g0134 a0001c0001t0145g0022 a0002c0002t0044g0137	24	385	0.0623	478	c.18 others(491): Show c.18251_*18252insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAG AGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAA GGACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATG GTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATAC GTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACAT GGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		931		chr22	TogoVar
PEX26_chr22_18072990_18110396	18106326	C C	CGTGGTTC others(471): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTT CAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGA GTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGT CTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCT GAAGCCCGAGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0136 a0001c0001t0146g0136	1	362	0.0028	478	c.18 others(491): Show c.18251_*18252insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAG AGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAA GGACATGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGATG GTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATAC GTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACAT GGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		931		chr22	TogoVar
PEX26_chr22_18072990_18110396	18106326	C C	CGTGGTTC others(471): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTTTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTT CAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGA GTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGT CTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCT GAAGCCCGAGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02886.hp1 others(1): Show HG02615.hp1 HG02647.hp1 HG02886.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0088 a0001c0001t0016g0089 a0001c0001t0016g0090 others(1): Show a0001c0001t0016g0088 a0001c0001t0016g0089 a0001c0001t0016g0090 a0001c0001t0016g0091	4	365	0.0110	478	c.18 others(491): Show c.18251_*18252insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTTTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAG AGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAA GGACATGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGATG GTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATAC GTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACAT GGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		931		chr22	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(471): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTG TCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTG TGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0224 a0002c0001t0001g0224	1	385	0.0026	478	c.-10 others(495): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGT ATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGT GTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(471): Show TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0197 a0002c0001t0001g0197	1	320	0.0031	478	c.-10 others(495): Show c.-10+1012_-10+1013insGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTG GCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGG CTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGG GGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCT AGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCC TGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PTPN4_chr2_119754922_119989899	119843801	T T	TGACCCCC others(471): Show TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ATCCCTCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	250	0.0040	478	c.139 others(497): Show c.139-18732_139-18731insCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCCG AC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(471): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATA TATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATA TATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATA AATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	279	0.0072	478	c.-75 others(497): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAATAAATATATATTTATAAACTAAATATAT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCGB1C2_chr17_132569_144067	141114	T T	TGAGGGGA others(471): Show TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGGGACATGGTGAGGAGGACCTGGGGGGGAC CTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAG GAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGG TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACC TGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGA ACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGGGG GACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTGGTGA GGAGGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCT GGTGAGGGGACCTGGTGAGGGGACATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	400	0.0025	478	c.21 others(489): Show c.2172_*2173insGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGA CCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACATGGTGAGGA GGACCTGGGGGGGACCTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGA GGAGGACCTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTG GTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGA CCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGG GACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGA GGGGAACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATG GGTGGGACCTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGGAGCC TTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2048		chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GCGATTGT others(471): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATGGTGGT GATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp2 HG02717.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0032 a0003c0003t0037 a0001c0001t0032 a0003c0003t0037	a0001c0001t0032g0080 a0003c0003t0037g0137 a0001c0001t0032g0080 a0003c0003t0037g0137	2	10	0.2000	478	c.914 others(495): Show c.914-2409_914-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GCGATTGT others(471): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGGT GATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATGGTGGT GATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0100 a0001c0001t0027g0100	1	9	0.1111	478	c.914 others(495): Show c.914-2409_914-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GCGATTGT others(471): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATGGTGGT GATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0040 a0003c0003t0047 a0001c0001t0040 a0003c0003t0047	a0001c0001t0040g0012 a0003c0003t0047g0127 a0001c0001t0040g0012 a0003c0003t0047g0127	2	10	0.2000	478	c.860 others(495): Show c.860-2409_860-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GCGATTGT others(471): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGGT GATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATGGTGGT GATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0064 a0001c0001t0025g0064	1	9	0.1111	478	c.860 others(495): Show c.860-2409_860-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10			chr17	TogoVar
SLA2_chr20_36607318_36651196	36642167	C C	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGG CTTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTAT TGGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCT GAGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCAC TTAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAG GAGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAG AAACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCT ATTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGA TGGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCC AGCCCAGGCAAGAGTGAGACGCTGTCTCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01106.hp2 others(23): Show HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01891.hp1 HG01978.hp1 HG02071.hp2 HG02074.hp2 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 NA18946.hp2 NA18974.hp2 NA18978.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0046 others(23): Show a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0245 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0002g0045 a0001c0001t0002g0064 a0001c0001t0003g0024 a0001c0001t0006g0170 a0001c0001t0008g0008 a0001c0001t0016g0062 a0001c0001t0018g0355	26	270	0.0963	478	c.-43 others(493): Show c.-43-790_-43-789insTGAGACAGCGTCTCACTCTTGCCTGGGCTG GAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCAT CTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATA GCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTC TTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCC TAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAG TGCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCA GCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAA TAACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGC CTGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642167	C C	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGC TTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATT GGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTG AGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACT TAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGG AGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGA AACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTA TTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGAT GGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCA GCCCAGGCAAGAGTGAGACGCTGTCTCAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02572.hp2 HG03492.hp1 others(2): Show HG01358.hp2 HG02572.hp2 HG03492.hp1 HG03834.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0345 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0006g0171	5	249	0.0201	478	c.-43 others(493): Show c.-43-790_-43-789insTTGAGACAGCGTCTCACTCTTGCCTGGGCT GGAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCA TCTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAAT AGCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTT CTTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTC CTAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAA GTGCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTC AGCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCA ATAACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAG CCTGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(471): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC CCACGGTGCTGGGTACCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	187	0.0053	478	c.654 others(493): Show c.654-731_654-730insTGGGCAGCGGTGGGTACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACC CAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(471): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0143 a0001c0003t0034g0143	1	187	0.0053	478	c.654 others(493): Show c.654-731_654-730insTGGGCAGCGGTGGGTACCCAGCACCGTGAG CAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACC CAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(471): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01167.hp1 HG01952.hp1 others(17): Show HG00621.hp2 HG01167.hp1 HG01952.hp1 HG02040.hp2 HG02074.hp1 HG02148.hp2 HG02273.hp1 NA18939.hp2 NA18944.hp2 NA18964.hp1 NA18971.hp1 NA18993.hp1 NA18998.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0066 others(17): Show a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0205 a0001c0001t0001g0213	20	206	0.0971	478	c.654 others(493): Show c.654-731_654-730insTGGGCAGCGGTGGGTACCCAGCACCGTGAG CAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACC CAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC9A3_chr5_465456_529449	505696	T T	TGGGGGGG others(471): Show TGGGGGGGTGGGGTGGGGAGTGACCACGGAGGTGAGAGTGACTGTGGGGG GGTGGGGAGTGACCATGGAAGGGGGAGAGTGACTGTGGGGGGTGGAGAGT GACCACAGAGGGGAGAGTGACTGTGGGGGGGTGGGGAGTGACCACGGGGG GAGAGTGACTGGGGGGGTGGGGTGGGGAGTGACCACGGAGGTGAGAGTGA CTGTGGGGGGGTGGGGAGTGACCATGGAAGGGGGAGAGTGACTGTGGGGG GTGGAGAGTGACCACAGAGGGGAGAGTGACTGTGGGGGGGTGGGGAGTGA CCACGGGGGGAGAGTGACTGGGGGGGTGGGGTGGGGAGTGACCACGGAGG TGAGAGTGACTGTGGGGGGGTGGGGAGTGACCATGGAAGGGGGAGAGTGA CTGTGGGGGGTGGAGAGTGACCACAGAGGGGAGAGTGACTGTGGGGGGGT GGGGAGTGACCACGGGGGGAGAGTGACTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0211 a0002c0002t0003g0211	1	119	0.0084	478	c.212 others(497): Show c.212-13626_212-13625insCAGTCACTCTCCCCCCGTGGTCACTC CCCACCCCCCCACAGTCACTCTCCCCTCTGTGGTCACTCTCCACCCCCCA CAGTCACTCTCCCCCTTCCATGGTCACTCCCCACCCCCCCACAGTCACTC TCACCTCCGTGGTCACTCCCCACCCCACCCCCCCAGTCACTCTCCCCCCG TGGTCACTCCCCACCCCCCCACAGTCACTCTCCCCTCTGTGGTCACTCTC CACCCCCCACAGTCACTCTCCCCCTTCCATGGTCACTCCCCACCCCCCCA CAGTCACTCTCACCTCCGTGGTCACTCCCCACCCCACCCCCCCAGTCACT CTCCCCCCGTGGTCACTCCCCACCCCCCCACAGTCACTCTCCCCTCTGTG GTCACTCTCCACCCCCCACAGTCACTCTCCCCCTTCCATGGTCACTCCCC ACCCCCCCACAGTCACTCTCACCTCCGTGGTCACTCCCCACCCCACCCCC CC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501088	C C	CTATTTTA others(471): Show CTATTTTATATTATAATATATAATATATATTATATTTTATATTATAATAT ATAATATATATTATATTTTATATTATAATATATAATATAATATATATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATACATATTATATTTTATGATATATAATATATATTATATTTTATGATAT ATAATATATATTTTATGATATATATTATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	246	0.0041	478	c.17 others(497): Show c.174+9790_*174+9791insTATAATATATATCATAAAATATATAT TATATATCATAAAATATAATATATATTATATATCATAAAATATAATATGT ATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGT ATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATATATATTATATTATATATTATAATATAAAATATAATATATAT TATATATTATAATATAAAATATAATATATATTATATATTATAATATAAAA TA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(471): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATACATTATATTTTATGATA TATGATATATATTATATTTTATGATATATATTATATATTATATTTTATGA TATATAATATATATTATATTTTATGATATATAATATATATTATATTTTAT GATATATAATATATATTATATTTTATGATATATAATATATTTTATATTTT ATGATATATAATATATTTTATATTTTATG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	152	0.0066	478	c.17 others(497): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAATATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATATATAATATATATCATAAAATATAATATATATC ATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTATA TCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATTATATATTAT AA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(471): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATACATTATATTTTATGATA TATGATATATATTATATTTTATGATATATGATATATATTATATTTTATGA TATATATTATATATTATATTTTATGATATATGATATATATTATATTTTAT GATATATGATATATATTATATTTTATGATATATGATATATATTATATTTT ATGATATATAATATATTTTATATTTTATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	152	0.0066	478	c.17 others(497): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAATATATATCATATATCATAAAATATAATATATATCATAT ATCATAAAATATAATATATATCATATATCATAAAATATAATATATAATAT ATATCATAAAATATAATATATATCATATATCATAAAATATAATATATATC ATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTATA TCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATTATATATTAT AA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(471): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATATATTATATTTTATGATA TATGATATATATTATATTTTATGATATATATTATATATTATATTTTATGA TATATAATATATATTATATTTTATGATATATAATATATATTATATTTTAT GATATATAATATATTTTATATTTTATGATATATAATATATTTTATATTTT ATGATATATAATATATTTTATATTTTATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	152	0.0066	478	c.17 others(497): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAAAATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATATATAATATATATCATAAAATATAATATATATC ATATATCATAAAATATAATATATATCATATATCATAAAATATAATGTATA TCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATTATATATTAT AA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(471): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATGAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATACATTATATTTTATGATA TATGATATATATTATATTTTATGATATATGATATATATTATATTTTATGA TATATGATATATATTATATTTTATGATATATGATATATATTATATTTTAT GATATATGATATATATTATATTTTATGATATATGATATATATTATATTTT ATGATATATAATATATTTTATATTTTATG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	152	0.0066	478	c.17 others(497): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAATATATATCATATATCATAAAATATAATATATATCATAT ATCATAAAATATAATATATATCATATATCATAAAATATAATATATATCAT ATATCATAAAATATAATATATATCATATATCATAAAATATAATATATATC ATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTATA TCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATCATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATTATATATTAT AA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(471): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATGAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATATATTATATTTTATGATATATGATATATATTATATTTTATGATA TATATTATATATTATATTTTATGATATATAATATATATTATATTTTATGA TATATAATATATATTATATTTTATGATATATAATATATATTATATTTTAT GATATATAATATATTTTATATTTTATGATATATAATATATTTTATATTTT ATGATATATAATATATTTTATATTTTATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	152	0.0066	478	c.17 others(497): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAAAATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATATATATTATATATCATAAAATATAATATATAAT ATATATCATAAAATATAATATATATCATATATCATAAAATATAATATATA TCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATCATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATTATATATTAT AA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1221467	C C	CTCTCTCT others(471): Show CTCTCTCTGTCTCTCTCTGTCTCTTTGTCCCTCTCTGTCTCTCTCTGTCT CTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCT GTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCT GCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCT GTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCT CTCTGTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCT TTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCT CTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCT CTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTTTCAGTCTCTGGTTTTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp2 HG02572.hp1 HG03579.hp2	a0005 a0010 a0005 a0010	a0005c0006 a0010c0013 a0005c0006 a0010c0013	a0005c0006t0001 a0010c0013t0001 a0005c0006t0001 a0010c0013t0001	a0005c0006t0001g0086 a0010c0013t0001g0042 a0005c0006t0001g0086 a0010c0013t0001g0042	2	188	0.0106	478	c.719 others(497): Show c.719+12242_719+12243insCTGTCTCTCTCTGTCTCTTTGTCCCT CTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCT CTGTCTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCT GCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCA GTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCT GTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCTCTGTCT CTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCT CTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCT GTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCT CTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCT CT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPIRE2_chr16_89823475_89876319	89852561	T T	TCCCTCTC others(471): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	288	0.0035	478	c.646 others(495): Show c.646-1724_646-1723insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(471): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA18941.hp2 NA18962.hp1 others(2): Show HG02135.hp1 NA18941.hp2 NA18962.hp1 NA19000.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202	5	13	0.3846	478	c.75 others(489): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(471): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGAGGGGGGAGGGGGAGAGAGAGG GGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGG GAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGAG GGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGG AGGAGGGGGGGAGGGAGGGAGGGAGGGGGGAGAGAGAGGGGAGGGAGGGA GGGGGAGGGAGGGGGGAGAGGGGGGGGGGGGGGAGAGAGAGGGGGAGGGG GGAGGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGG GGGAGGGGAGGGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGG AGGGAGGGGGGGAGGAGGGGGAGGGAGGGGGAGGAGGGGGGAGAGAGGGG GGAGAGAGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0058 a0001c0002t0059g0058	1	170	0.0059	478	c.-18 others(497): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCTCTC TCCCCCCTCTCTCCCCCCTCCTCCCCCTCCCTCCCCCTCCTCCCCCCCTC CCTCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCCCTCCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCC TCCCCCCTCCCCCTCTCTCTCCCCCCCCCCCCCCTCTCCCCCCTCCCTCC CCCTCCCTCCCTCCCCTCTCTCTCCCCCCTCCCTCCCTCCCTCCCCCCCT CCTCCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCCTCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCT CCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCTCCCCCTCCCCCCCTCCC TC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAB2_chr6_149312712_149416607	149377163	A A	GGGTTCAC others(471): Show GGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTATTTTTAGTAGAGACG GGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAAGCGTAAAAACAATCTGAGGTTTTTTT CCCCCCCGCCACTCTGGAGTAGATTTTTATGATGTTATCTAAAGGCAGAG ATAGGAGCTAGTTCTTCTGGAGGCTACCTTGAGCCTCCAGAGAGAGAGGG ATTACACAAGTTAAGAGGAAGCGTGTGAAGGATTGAGATGACTGGTATGA ATTTCAGAACTTTAAATGCTACAAATGTAACTTATTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAG TCTCGGCTCACTGCAAGCTCCGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02572.hp2 others(2): Show HG02055.hp1 HG02145.hp2 HG02572.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0084 others(2): Show a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0016g0087	5	212	0.0236	478	c.103 others(493): Show c.103-856_103-855insGGGTTCACGCCATTCTCCTGCCTCAGCCTC TCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTAA AAACAATCTGAGGTTTTTTTCCCCCCCGCCACTCTGGAGTAGATTTTTAT GATGTTATCTAAAGGCAGAGATAGGAGCTAGTTCTTCTGGAGGCTACCTT GAGCCTCCAGAGAGAGAGGGATTACACAAGTTAAGAGGAAGCGTGTGAAG GATTGAGATGACTGGTATGAATTTCAGAACTTTAAATGCTACAAATGTAA CTTATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAG GCTGGAGTGCAGTGGCGCAGTCTCGGCTCACTGCAAGCTCCGCCTCCC	TAB2	ENSG00000055208.20	transcript	ENST00000637181.2	protein_coding	2/6			chr6	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(471): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	357	0.0028	478	c.228 others(497): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377448	G G	GCCCCCAC others(471): Show GCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	303	0.0033	478	c.-14 others(489): Show c.-1479_-1478insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1423		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(471): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	256	0.0039	478	c.189 others(493): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMPRSS6_chr22_37060436_37114713	37097760	T T	TGTCCTGT others(471): Show TGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGG GAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTC CTGTAACGGAGGGGCAGGAGTGGGCCACCGTCCTGTAACGGAGGGGGAGG AGTGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTA ACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGG GCCACCGTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTCCTGTAACGG AGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCAC CGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGG GAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTC CTGTAACGGAGGGGCAGGGGCGGGCCACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG00280.hp2 HG01433.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0002 a0001c0004 a0003c0002	a0001c0004t0001 a0003c0002t0001 a0001c0004t0001 a0003c0002t0001	a0001c0004t0001g0196 a0003c0002t0001g0222 a0001c0004t0001g0196 a0003c0002t0001g0222	2	136	0.0147	478	c.336 others(493): Show c.336+655_336+656insGGTGGCCCGCCCCTGCCCCTCCGTTACAGG ACGGTGGCCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCC CCCTCCGTTACAGGACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGACGG TGGCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTC CGTTACAGGACGGTGGCCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCC CGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTT ACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCACTC CTCCCCCTCCGTTACAGGACGGTGGCCCACTCCTGCCCCTCCGTTACAGG ACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCC CCCTCCGTTACAGGACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGAC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37098006	G G	GTGGGCCA others(471): Show GTGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTA ACGGAGGGGTAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGG CCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGA GGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCAC CGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGG AGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGA GCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGG CCACCGTCCTGTAACGGAGGGGGAGGAGC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19085.hp2 NA18984.hp2 NA19085.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0123 a0003c0002t0001g0299 a0003c0002t0001g0123 a0003c0002t0001g0299	2	338	0.0059	478	c.336 others(493): Show c.336+409_336+410insGCTCCTCCCCCTCCGTTACAGGACGGTGGC CCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTT ACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCT CCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAG GACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTC CCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGGACGG TGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCCCCTGCCCCT CCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGC CCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTACCCCTCCGTT ACAGGACGGTGGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGCCCA	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TOP3A_chr17_18266428_18319994	18298415	G G	GTCCGGGA others(471): Show GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCAGCCGGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCTTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCA CCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CATCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGTCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCTCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02809.hp1 others(3): Show HG01884.hp1 HG02559.hp2 HG02809.hp1 HG03209.hp1 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0033 a0001c0004t0007g0034 a0001c0004t0007g0035 others(3): Show a0001c0004t0007g0033 a0001c0004t0007g0034 a0001c0004t0007g0035 a0001c0004t0007g0036 a0001c0004t0007g0037 a0001c0004t0007g0038	6	386	0.0155	478	c.990 others(495): Show c.990+1143_990+1144insTGGAGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGACTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGG GTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAAGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCTGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	9/18			chr17	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(471): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCA TCCTAAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTG AAGACCCCACACACCCTCGTAAAGACCCCCATCACACCATCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACAC ACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	184	0.0054	478	c.225 others(497): Show c.2251+1798_2251+1799insGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCT TTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTA GGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGG GT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106326	C C	CGTGGTTC others(471): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACAAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTT CAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCT GAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGA GTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGT CTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCT GAAGCCCGAGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	391	0.0026	478	c.-45 others(489): Show c.-4540_-4539insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACAAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAG CTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGA AGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGG ACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGT GTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGT AGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGG TTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4482		chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106326	C C	CGTGGTTC others(471): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTT CAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCT GAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGA GTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGT CTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCT GAAGCCCGAGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01192.hp1 others(21): Show HG00738.hp2 HG01099.hp1 HG01192.hp1 HG01346.hp1 HG02129.hp1 HG02155.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 NA18964.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0008t0001	a0001c0001t0001g0063 a0001c0001t0001g0126 a0001c0001t0001g0129 others(21): Show a0001c0001t0001g0063 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0319 a0001c0001t0002g0029 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0189 a0001c0001t0003g0065 a0004c0008t0001g0186	24	414	0.0580	478	c.-45 others(489): Show c.-4540_-4539insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAG CTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGA AGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGG ACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGT GTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGT AGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGG TTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4482		chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106326	C C	CGTGGTTC others(471): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTT CAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGA GTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGT CTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCT GAAGCCCGAGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	391	0.0026	478	c.-45 others(489): Show c.-4540_-4539insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAG CTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGA AGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGG ACATGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGT GTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGT AGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGG TTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4482		chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106326	C C	CGTGGTTC others(471): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTTTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTT CAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGA GTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGT CTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCT GAAGCCCGAGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02886.hp1 others(1): Show HG02615.hp2 HG02647.hp2 HG02886.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 others(1): Show a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0002g0323	4	394	0.0102	478	c.-45 others(489): Show c.-4540_-4539insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTTTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAG CTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGA AGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGG ACATGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGT GTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGT AGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGG TTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4482		chr22	TogoVar
ULK1_chr12_131889622_131928150	131918730	G G	GGGGTGTG others(471): Show GGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTAG GGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTG TGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGT GTAGGGTATGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAG GGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTG TGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGT GTAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCG GGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTG GGGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGTGT AGGGTGTGTGGTGTAGGGTATGGGGTGTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0305 a0001c0002t0001g0305	1	169	0.0059	478	c.251 others(493): Show c.2511+96_2511+97insAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTG TGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTGTGGG GTATAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTG TGTGGGGTGTCGGGTGTGGGGTGTAGGGTGTGTGGGGTATAGGGTGTGTG GGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGT AGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTCAGGTGTG TGGGGTGTAGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGTATGGGGTGT CGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131918778	C C	CGGGTGTG others(471): Show CGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTG TGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGT GTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTAT AGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAG TGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGG GTGTAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTG TGGGGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGT GTAGGGTGTGTGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGG TGTGTGGGGTATAGGGTGTGTGGGGTGTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01109.hp1 others(16): Show HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01978.hp1 HG01993.hp1 HG02129.hp1 HG03139.hp1 HG04204.hp2 NA18948.hp1 NA18959.hp1 NA18977.hp2 NA18980.hp1 NA19003.hp1 NA19066.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 others(3): Show a0001c0001 a0001c0006 a0002c0004 a0002c0008 a0002c0011 a0002c0031	a0001c0001t0002 a0001c0001t0007 a0001c0006t0004 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0006t0004 a0002c0004t0003 a0002c0004t0004 a0002c0008t0004 a0002c0011t0004 a0002c0031t0002	a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0164 others(14): Show a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0164 a0001c0001t0002g0187 a0001c0001t0007g0205 a0001c0006t0004g0181 a0002c0004t0003g0180 a0002c0004t0004g0012 a0002c0004t0004g0013 a0002c0004t0004g0185 a0002c0004t0004g0212 a0002c0004t0004g0213 a0002c0004t0004g0214 a0002c0008t0004g0135 a0002c0011t0004g0024 a0002c0011t0004g0027 a0002c0031t0002g0198	19	238	0.0798	478	c.251 others(495): Show c.2511+128_2511+129insAGTGTGGGGTGTAGTGTGTGGGGTGTCA GGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTG TGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAGGGTGTGTG GGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGT AGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTG TGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTG GGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGGGTGTCG GGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGTGTAGGGTGTG TGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGT ATAGGGTGTGTGGGGTGTTGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(471): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATA TATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATA TATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATA AATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	2	226	0.0088	478	c.82+ others(493): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTATT TAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(471): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATTATATTTATGTAATATATAATATATATTATATAT TATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATA TATAATATTTATATATTATATTTATGTAATATATAATATTTATATATTAT ATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATA TTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTATG TAATATATATTTATATATTATATTTATGTAATATATAATATTTATATATA TTTATGTAATATATAATATTTATATATATTTATGTAATATATAATATTTA TATATTATATTTATGTAATATATAATATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0102 a0002c0001t0002g0102	1	59	0.0169	478	c.213 others(497): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATAATATATAAATATATA TTACATAAATATAATATATAAATATTATATATTACATAAATATAATATAT AAATATTATATATTACATAAATATAATATATAAATATTATATATTACATA AATATAATATATAAATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAAATATATATTATATATTACATAAAT ATAATATATAATATATATTATATATTACATAAATATAATATATAATATAT ATTATATATTACATAAATATAATATATAATATATATTATATATTACATAA ATATAATATATAATATATATTATATATTACATAAATATAATATATAAATA TA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(471): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTC CCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCT CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC CCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC CCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01256.hp1 others(7): Show HG00323.hp1 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG02698.hp1 HG02809.hp1 HG02922.hp2 HG03704.hp1 HG03834.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0017 a0003c0003t0018 others(5): Show a0003c0003t0011 a0003c0003t0017 a0003c0003t0018 a0003c0003t0025 a0003c0003t0035 a0003c0003t0036 a0003c0003t0037 a0003c0003t0039	a0003c0003t0011g0015 a0003c0003t0011g0020 a0003c0003t0011g0021 others(7): Show a0003c0003t0011g0015 a0003c0003t0011g0020 a0003c0003t0011g0021 a0003c0003t0017g0014 a0003c0003t0018g0023 a0003c0003t0025g0011 a0003c0003t0035g0016 a0003c0003t0036g0022 a0003c0003t0037g0010 a0003c0003t0039g0012	10	42	0.2381	478	c.53- others(491): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCT CCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCC CTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTC CCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(471): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18983.hp1 HG01243.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0241 a0002c0002t0003g0071 a0001c0001t0001g0241 a0002c0002t0003g0071	2	34	0.0588	478	c.53- others(491): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(471): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTGTGTGT TCATGCGTGTTCTGTGTATTCTTTGTGTGTGTTCGTGTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTGTTTTTTTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCT GTGTTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATG TGCGTGTTCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTG TGCTCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTG TGTGTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTG TTTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTTCT TCGTGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	137	0.0073	478	c.682 others(497): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTGTGTGTTCATGCGTGTTCTGTGTATTCTTTGTGTGT GTTCGTGTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTGTTTTTTTTGTGTGTGTGTTCT GTGTGTTCTTTGTGTGTTCTGTGTTTTTGTGTGTGTTCTTCGTGTGTGTG TTCTGTATGTTTTTTGTATGTGCGTGTTCTGTGTTCATGTGTTCTGTGTG TTCTTTGTGTGTGTTCTGTGTGCTCTTCCTGTGTGTGTTCTGTGTGTTCT TCGTGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTG TTCTTTGTATGTGTTCTGTGTTTTGTGTGTGTGTTCTGTGTGTTCTTTGT GTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGCAT GT	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(471): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTGTGTGT TCATGTGTGTTCTGTGTATTCTTTGTGTGTGTTCGTGTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTGTTTTGTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCTGT GTTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATATG CGTGTCCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTGTG CTCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTGTG TGTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTGTT TTGTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTTCT TCGTGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0021 a0021	a0021c0045 a0021c0045	a0021c0045t0001 a0021c0045t0001	a0021c0045t0001g0295 a0021c0045t0001g0295	1	137	0.0073	478	c.682 others(497): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTGTGTGTTCATGTGTGTTCTGTGTATTCTTTGTGTGT GTTCGTGTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTGTTTTGTGTGTGTGTGTTCTGT GTGTTCTTTGTGTGTTCTGTGTTTTTGTGTGTGTTCTTCGTGTGTGTGTT CTGTATGTTTTTTGTATATGCGTGTCCTGTGTTCATGTGTTCTGTGTGTT CTTTGTGTGTGTTCTGTGTGCTCTTCCTGTGTGTGTTCTGTGTGTTCTTC GTGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTGTT CTTTGTATGTGTTCTGTGTTTTGTGTGTGTGTGTTCTGTGTGTTCTTTGT GTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGCAT GT	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(471): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTGTGTGT TCATGTGTGTTCTGTGTATTCTTTGTGTGTGTTCGTGTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTGTTTTTTGTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCT GTGTTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATG TGCGTGTTCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTG TGATCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTG TGTGTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTG TTTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTTCT TCGTGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	137	0.0073	478	c.682 others(497): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTGTGTGTTCATGTGTGTTCTGTGTATTCTTTGTGTGT GTTCGTGTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTGTTTTTTGTGTGTGTGTGTTCT GTGTGTTCTTTGTGTGTTCTGTGTTTTTGTGTGTGTTCTTCGTGTGTGTG TTCTGTATGTTTTTTGTATGTGCGTGTTCTGTGTTCATGTGTTCTGTGTG TTCTTTGTGTGTGTTCTGTGTGATCTTCCTGTGTGTGTTCTGTGTGTTCT TCGTGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTG TTCTTTGTATGTGTTCTGTGTTTTGTGTGTGTGTTCTGTGTGTTCTTTGT GTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGCAT GT	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results