JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CTNNA3_chr10_65907523_67701195	67378524	T T	TGGTCATC others(307): Show TGGTCATCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18960.hp2 NA18964.hp1 others(1): Show NA18612.hp2 NA18960.hp2 NA18964.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0002c0002t0017 a0001c0001t0004 a0002c0002t0003 a0002c0002t0017	a0001c0001t0004g0041 a0001c0001t0004g0043 a0002c0002t0003g0042 others(1): Show a0001c0001t0004g0041 a0001c0001t0004g0043 a0002c0002t0003g0042 a0002c0002t0017g0040	4	46	0.0870	314	c.579 others(335): Show c.579+143317_579+143318insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGATGACC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CUX2_chr12_111029165_111355554	111325710	G G	GTTTTGTT others(307): Show GTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTG TTGGGGTGGGGGAGGGGTGGGTTTGTTTATCGTGTTGGGGTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGT TTATCGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGT GGGGGAGGGGTGGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	100	0.0100	314	c.292 others(333): Show c.2926+3133_2926+3134insTGTTTATAGTGTTGTGGTGGGGGAGG GGTGGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTGTTTAT CGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTG TTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGG TGGGGGAGGGGTGGGTTTGTTTATCGTGTTGGGGTGGGGGAGGGGTGGGT TTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CXXC1_chr18_50277347_50292692	50288549	T T	TAAACATA others(307): Show TAAACATAGATCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	314	c.-96 others(323): Show c.-961_-960insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTGGATCTATGTTT	CXXC1	ENSG00000154832.16	transcript	ENST00000285106.11	protein_coding		858		chr18	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(307): Show CCTATATAATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01346.hp1 HG00597.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	264	0.0076	314	c.-15 others(325): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(307): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	314	c.-15 others(325): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CYBRD1_chr2_171517474_171563129	171558477	T T	TTAATATT others(307): Show TTAATATTATGTATTTATATATAATATGTAATATTATATATTTATATATA ATATGTAATATTATATATTTATATATAATATGTAATATTATATATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT GTAATATTATATATATATAATATGTAATATTATATATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0308 a0001c0001t0007g0308	1	394	0.0025	314	c.36 others(325): Show c.3650_*3651insTAATATTATGTATTTATATATAATATGTAATATT ATATATTTATATATAATATGTAATATTATATATTTATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATGTAATATTATATATAT ATAATATGTAATATTATATATATATAATATGTAATATTATATATATATAA TATGTAATATTATATATATATAATATGTAA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		349		chr2	TogoVar
CYBRD1_chr2_171517474_171563129	171558477	T T	TTAATATT others(307): Show TTAATATTATGTATTTATATATAATATGTAATATTATATATTTATATATA ATATGTAATATTATATATTTATATATAATATGTAATATTATATATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT GTAATATTATATATATATAATATGTAATATTATATATATATAATATGTAA TATTATATATATATAATATTACATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0304 a0001c0001t0019g0304	1	394	0.0025	314	c.36 others(325): Show c.3650_*3651insTAATATTATGTATTTATATATAATATGTAATATT ATATATTTATATATAATATGTAATATTATATATTTATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATTACATATTATATATAT ATAATATGTAATATTATATATATATAATATGTAATATTATATATATATAA TATGTAATATTATATATATATAATATGTAA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		349		chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(307): Show ATATATATGTGTATATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATATGTGTGTATATATATATATATATATGTGTGT ATATATATATATATATATGTGTATATATATATATATATATATATGTGTAT ATATATATATATATATGTGTGTGTATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0265 a0002c0002t0003g0265	1	334	0.0030	314	c.290 others(329): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATATATGTGTATATATATATATATATATATATATATGTGTGTATATATA TATATATATATGTGTGTATATATATATATATATATGTGTATATATATATA TATATATATATGTGTATATATATATATATATATGTGTGTGTATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATATGTGTATATATATATATATATATATGTGTATATATATATATATA TATATATGTGTATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(307): Show ATATATATGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATATATATATGTGTGTATATATATATATATATATATGTGTGTAT ATATATATATATATATGTGTATATATATATATATATATATGTGTATATAT ATATATATATATGTGTGTGTATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATATGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0267 a0002c0002t0005g0267	1	334	0.0030	314	c.290 others(329): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATATATATATGTGTGTATATATATATA TATATATATGTGTGTATATATATATATATATATGTGTATATATATATATA TATATATGTGTATATATATATATATATATGTGTGTGTATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATATGTGTATATATATATATATATATATATGTGTATATATATATATATA TATATATGTGTATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(307): Show ATATATGTGTATATATATATATATATATATATATGTGTATATATATATAT ATATATATGTGTGTATATATATATATATATATGTGTGTATATATATATAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATGTGTATATATATATATATAT ATATATGTGTATATATATATATATATATATATGTGTATATATATATATAT ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0313 a0002c0002t0005g0313	1	334	0.0030	314	c.290 others(329): Show c.290-150_290-149insTATGTGTATATATATATATATATATATATA TGTGTATATATATATATATATATATGTGTGTATATATATATATATATATG TGTGTATATATATATATATATATATATATATGTGTATATATATATATATA TATATATGTGTATATATATATATATATATATGTGTATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATGTG TATATATATATATATATATATATGTGTATATATATATATATATATATATG TGTATATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(307): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0219 a0001c0001t0005g0219	1	320	0.0031	314	c.546 others(331): Show c.546+3884_546+3885insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCCACATC others(307): Show CCCACATCTCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCCACACCCCCCACATCTCCCCACACACCCCCCACACCACACATC CCTCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACAC ATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCTCACACCCC CCACATCCCCACACCCCCATCCCCCACACTCCCCACACCCCCCCACACCC CCCACATCCCCACACCACACATCCCTCACACCCCCCAAATCCCCCACACC CCCCACATCCCCACA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	116	0.0086	314	c.207 others(333): Show c.2073+1468_2073+1469insTCTCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCCACACCCCCCACACCCCCCACATCTCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCAC ACACCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCC CACATCTCCTCACACCCCCCACATCCCCACACCCCCATCCCCCACACTCC CCACACCCCCCCACACCCCCCACATCCCCACACCACACATCCCTCACACC CCCCAAATCCCCCACACCCCCCACATCCCCACACCACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDI1_chr11_104031640_104044196	104041415	C C	CAAAAATC others(307): Show CAAAAATCCTCCTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02451.hp1 others(4): Show HG01884.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0021 a0001c0005 a0001c0021	a0001c0005t0007 a0001c0021t0007 a0001c0005t0007 a0001c0021t0007	a0001c0005t0007g0000 a0001c0021t0007g0000 a0001c0005t0007g0000 a0001c0021t0007g0000	7	448	0.0156	314	c.34 others(325): Show c.3402_*3403insAAAAATCCTCCTCTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGCAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAA	DDI1	ENSG00000170967.5	transcript	ENST00000302259.5	protein_coding		2220		chr11	TogoVar
DEFB119_chr20_31372164_31395590	31394336	T T	TAAAAAAT others(307): Show TAAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01358.hp2 HG02155.hp1 others(4): Show HG00423.hp1 HG01358.hp2 HG02155.hp1 HG02293.hp1 HG02293.hp2 NA18948.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0003t0001g0149	7	370	0.0189	314	c.-38 others(325): Show c.-3854_-3853insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGTATTTTTT	DEFB119	ENSG00000180483.7	transcript	ENST00000376321.4	protein_coding		3747		chr20	TogoVar
DGAT1_chr8_144309584_144331852	144313660	G G	GCGCCTCC others(307): Show GCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCC CCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCG CCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCAC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC CCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	314	c.28 others(325): Show c.2893_*2894insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAG GCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGTGCGGGGAGGCGGGGAGG CGGGGCGGGGAGGCGGGGAGGCGCGGGGAGGCGGGGCGGGGAGGCGGGGA GGCGGTGCGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGTGCGGGGAGGC GGGGAGGCGGTGCGGGGAGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		923		chr8	TogoVar
DIP2C_chr10_269201_694668	608535	A A	ACACACAC others(307): Show ACACACACACACCCCCCCCACACACACACACACCCCCCCCCACACACACA CACACCCCCCCCCACACACACACACCCCCCCCCACACACACACCCCCCCC CACACACACACCCCCCCCACACACACACACCCCCCCACACACACACACCC CCCCACACACACACACCCCCCCCCACACACACACACATCCCCCCCCCACA CACACACATCCCCCCCCACACACACACACATCCCCCCCACACACACACAT CCCCCCCACACACACACACATCCCCCCCCACACACACACACATCCCCCCC CACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0053 a0001c0003t0002g0053	1	88	0.0114	314	c.85+ others(331): Show c.85+80958_85+80959insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGATGTGTGTGTGTG GGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGGA TGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGGGGGGGTGTGTGTGTG TGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGT GTGTGGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGG GGGGGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608555	C C	CCACACAC others(307): Show CCACACACACACACACACCCCCCCCCACACACACACACCCCCCCCCACAC ACACACACCCCCCCACACACACACACCCCCCCACACACACACACACCCCC ACACACACACACCCCCCCCCACACACACACCCCCCCCACACACACATCCC CCCCCACACACACACACATCCCCCCCCACACACACACACATCCCCCCCCA CACACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACA CACATCCCCCCCCACACACACACACATCCCCCCCCACACACACACATCCC CCCCCACACACACAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0052 a0001c0012t0002g0052	1	88	0.0114	314	c.85+ others(331): Show c.85+80938_85+80939insATGTGTGTGTGGGGGGGGATGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGG GGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGT GTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGT GGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGGGGGTGTGTGTG TGTGTGGGGGGGTGTGTGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGGGG TGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	963262	T T	TGAAAATG others(307): Show TGAAAATGAGTGGCCGGGCGCGGTGGCTCACGCCTAGTAATCCCAGCACT GTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG02647.hp2 HG02895.hp2	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0002 a0002c0007t0008 a0002c0001t0002 a0002c0007t0008	a0002c0001t0002g0013 a0002c0007t0008g0040 a0002c0001t0002g0013 a0002c0007t0008g0040	2	40	0.0500	314	c.73+ others(331): Show c.73+55306_73+55307insGGCCGGGCGCGGTGGCTCACGCCTAGTA ATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAGAAAATGAGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC11_chr1_6629170_6706816	6698208	G G	GAAGGTAC others(307): Show GAAGGTACTTTGAGGGCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAACAAAAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02622.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	366	0.0055	314	c.72+ others(329): Show c.72+3520_72+3521insGTTTTTTGTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGCCCTCAAAGTACCTT	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding	1/15			chr1	TogoVar
DOCK1_chr10_126900428_127457516	127392028	A A	AGCATCTG others(307): Show AGCATCTGGCCTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0004 a0005c0014t0004	a0005c0014t0004g0057 a0005c0014t0004g0057	1	136	0.0074	314	c.392 others(333): Show c.3927+7133_3927+7134insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGCATCTGGCCTTCT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127392028	A A	AGCATCTG others(307): Show AGCATCTGGCCTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01175.hp2 others(1): Show HG01106.hp1 HG01106.hp2 HG01175.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0054 a0002c0055 others(1): Show a0001c0001 a0001c0054 a0002c0055 a0002c0059	a0001c0001t0002 a0001c0054t0011 a0002c0055t0001 others(1): Show a0001c0001t0002 a0001c0054t0011 a0002c0055t0001 a0002c0059t0001	a0001c0001t0002g0077 a0001c0054t0011g0024 a0002c0055t0001g0098 others(1): Show a0001c0001t0002g0077 a0001c0054t0011g0024 a0002c0055t0001g0098 a0002c0059t0001g0104	4	136	0.0294	314	c.392 others(333): Show c.3927+7133_3927+7134insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGCATCTGGCCTTCT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(307): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02258.hp1 others(2): Show HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02886.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0001c0015 a0001c0026 others(2): Show a0001c0012 a0001c0015 a0001c0026 a0003c0019 a0003c0053	a0001c0012t0056 a0001c0015t0020 a0001c0026t0001 others(2): Show a0001c0012t0056 a0001c0015t0020 a0001c0026t0001 a0003c0019t0020 a0003c0053t0010	a0001c0012t0056g0007 a0001c0015t0020g0180 a0001c0026t0001g0062 others(2): Show a0001c0012t0056g0007 a0001c0015t0020g0180 a0001c0026t0001g0062 a0003c0019t0020g0204 a0003c0053t0010g0205	5	210	0.0238	314	c.131 others(333): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(307): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18960.hp1 HG01167.hp1 NA18960.hp1	a0002 a0002	a0002c0007 a0002c0010 a0002c0007 a0002c0010	a0002c0007t0002 a0002c0010t0003 a0002c0007t0002 a0002c0010t0003	a0002c0007t0002g0065 a0002c0010t0003g0113 a0002c0007t0002g0065 a0002c0010t0003g0113	2	210	0.0095	314	c.131 others(333): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	256804	T T	TGAGGGCA others(307): Show TGAGGGCAGAGGCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG02896.hp2 others(2): Show HG01243.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2	a0002 a0013 a0015 others(1): Show a0002 a0013 a0015 a0040	a0002c0096 a0013c0093 a0015c0018 others(2): Show a0002c0096 a0013c0093 a0015c0018 a0015c0069 a0040c0048	a0002c0096t0001 a0013c0093t0001 a0015c0018t0002 others(2): Show a0002c0096t0001 a0013c0093t0001 a0015c0018t0002 a0015c0069t0002 a0040c0048t0008	a0002c0096t0001g0010 a0013c0093t0001g0009 a0015c0018t0002g0011 others(2): Show a0002c0096t0001g0010 a0013c0093t0001g0009 a0015c0018t0002g0011 a0015c0069t0002g0008 a0040c0048t0008g0012	5	256	0.0195	314	c.54- others(331): Show c.54-14807_54-14806insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGAGGGCAGAGGCTTTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK6_chr18_69395888_69854087	69492816	T T	TTGGTGGG others(307): Show TTGGTGGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02965.hp1 others(1): Show HG01884.hp2 HG02109.hp2 HG02965.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0001t0074	a0001c0001t0001g0067 a0001c0001t0005g0031 a0001c0001t0025g0023 others(1): Show a0001c0001t0001g0067 a0001c0001t0005g0031 a0001c0001t0025g0023 a0001c0001t0074g0051	4	170	0.0235	314	c.67- others(331): Show c.67-71657_67-71656insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGGTGGGCTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69492816	T T	TTGGTGGG others(307): Show TTGGTGGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	170	0.0059	314	c.67- others(331): Show c.67-71657_67-71656insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGGTGGGCTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69492816	T T	TTGGTGGG others(307): Show TTGGTGGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0110 a0001c0001t0013g0110	1	170	0.0059	314	c.67- others(331): Show c.67-71657_67-71656insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GTGTGAGCCACCGCGCCCGGCCTGGTGGGCTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOP1B_chr21_36151824_36299274	36218627	T T	TAAAAGAT others(307): Show TAAAAGATTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGTTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	292	0.0034	314	c.113 others(331): Show c.1130-737_1130-736insTAGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGTTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPH7_chr9_137549444_137583925	137566514	T T	TGTCTGTG others(307): Show TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	340	0.0029	314	c.641 others(331): Show c.641-1361_641-1360insTCACCCCGGGGAGCTTCCTCACAGACAG AGTCACCCCGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTC ACAGACAGAGTCACCCCGGGGAGCTTCCTCACGGACAGTCACCCAGGGGA GCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCAC CCCGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTC ACAGACAGAGTCACCCCGGGGAGCTTCCTCACAGAC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPY19L4_chr8_94714900_94798836	94782492	T T	TTACTGTG others(307): Show TTACTGTGGCCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0009 a0007c0008t0001g0009	1	290	0.0035	314	c.171 others(333): Show c.1716-1162_1716-1161insTTTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTACTGTGGCCATTTTT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPY19L4_chr8_94714900_94798836	94782492	T T	TTACTGTG others(307): Show TTACTGTGGCCATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02451.hp2 HG02572.hp2 others(3): Show HG01070.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02886.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 a0001c0001t0001 a0001c0001t0012 a0001c0001t0019	a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0012g0013 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0012g0116 a0001c0001t0019g0175	6	290	0.0207	314	c.171 others(333): Show c.1716-1162_1716-1161insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTACTGTGGCCATTTTT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYNC2H1_chr11_103104426_103484863	103177853	T T	TAGTAATT others(307): Show TAGTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG00735.hp1 HG00741.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0181 a0001c0010t0001g0182 a0001c0010t0001g0181 a0001c0010t0001g0182	2	262	0.0076	314	c.613 others(329): Show c.6139+43_6139+44insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGTAATTCTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	38/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
EGF_chr4_109907883_110018766	110013803	G G	GCCTTGAT others(307): Show GCCTTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01175.hp1 others(36): Show HG00597.hp2 HG00673.hp1 HG01175.hp1 HG01928.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02129.hp2 HG02165.hp1 HG03669.hp2 HG03710.hp1 HG04115.hp2 NA18939.hp2 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19060.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0004 a0004c0032 others(1): Show a0001c0001 a0004c0004 a0004c0032 a0008c0008	a0001c0001t0003 a0004c0004t0003 a0004c0004t0010 others(4): Show a0001c0001t0003 a0004c0004t0003 a0004c0004t0010 a0004c0004t0039 a0004c0032t0003 a0008c0008t0003 a0008c0008t0032	a0001c0001t0003g0073 a0001c0001t0003g0074 a0004c0004t0003g0008 others(36): Show a0001c0001t0003g0073 a0001c0001t0003g0074 a0004c0004t0003g0008 a0004c0004t0003g0132 a0004c0004t0003g0247 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0257 a0004c0004t0003g0258 a0004c0004t0003g0260 a0004c0004t0003g0261 a0004c0004t0003g0264 a0004c0004t0003g0265 a0004c0004t0003g0266 a0004c0004t0003g0270 a0004c0004t0003g0272 a0004c0004t0003g0273 a0004c0004t0003g0274 a0004c0004t0003g0276 a0004c0004t0003g0277 a0004c0004t0003g0280 a0004c0004t0003g0281 a0004c0004t0003g0282 a0004c0004t0003g0283 a0004c0004t0003g0286 a0004c0004t0003g0318 a0004c0004t0003g0379 a0004c0004t0010g0259 a0004c0004t0010g0268 a0004c0004t0010g0271 a0004c0004t0010g0284 a0004c0004t0039g0245 a0004c0032t0003g0269 a0008c0008t0003g0348 a0008c0008t0003g0349 a0008c0008t0003g0355 a0008c0008t0003g0370 a0008c0008t0003g0374 a0008c0008t0032g0220	39	388	0.1005	314	c.23 others(325): Show c.2348_*2349insCCTTGATTTCTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding		38		chr4	TogoVar
EHMT1_chr9_137614005_137841127	137716247	G G	GTTGGTGT others(307): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0051 a0001c0025t0001g0051	1	170	0.0059	314	c.86- others(327): Show c.86-379_86-378insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTG GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(307): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCC TACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATC ACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCA TCCACAGCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTA CCACCATCTTCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA20752.hp2 HG01516.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0118 a0001c0002t0002g0020 a0001c0002t0002g0118	2	250	0.0080	314	c.259 others(333): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGAAGATGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGAGGATGGTGGTAGGGGCTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(307): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCC TACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATC ACCACCATCCCCATCCACAGCCCCTACCACCATCCTCACCACCATCCCCA TCCACACCCCCTACCACCATCTTCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCAC CACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	250	0.0040	314	c.259 others(333): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGAGGATGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGAAGATGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGAGGATGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(307): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	386	0.0026	314	c.129 others(329): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54889450	T T	TAAAGTCT others(307): Show TAAAGTCTGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0053 a0001c0018t0001g0053	1	264	0.0038	314	c.243 others(333): Show c.2439-1589_2439-1588insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAAGTCTGCCTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(307): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG01433.hp2 others(9): Show HG00408.hp1 HG01168.hp2 HG01433.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 NA18944.hp1 NA18961.hp1 NA18962.hp2 NA19004.hp2 NA19082.hp2 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0001c0001t0025 a0004c0009t0002 a0001c0001t0002 a0001c0001t0025 a0004c0009t0002	a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 others(9): Show a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0025g0114 a0004c0009t0002g0125	12	312	0.0385	314	c.231 others(333): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(307): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGGAGCGAAACTCCGTCTC AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	312	0.0032	314	c.231 others(333): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGGAGCGAAACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22599868	G G	GGAAGGAA others(307): Show GGAAGGAAGGAAGGAGGGAAGGAGGGAGGGAAGGGAGAGAAGGAGGGAGG GAGTAGGGGAGGAAGGGAGGGAGAGGGAGGAAGGAAGGGGGAAGGAGGAA GAAAGGAGGGAGGGAAGGCGGGAAGGAAGGGGGGAGGGAGGAAGGAAGAG GGAAATGAGGGAAGGAAGGTGGAAAGGAAGGAAGGAGGGAAGGGGAGAGA AGGGGGGAGGGGAGGGAAGGAGAGAAGGAATGAGGGAGGGAGTGGGGGAG GAAGGAAGGAAGGAAGGAGAGGAGGAGGAAAGGAGGGATGGAGGGAAGGA AGGAGGGAAGGGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01106.hp2 others(10): Show HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01243.hp2 HG01884.hp1 HG02280.hp2 HG02886.hp1 HG02896.hp1 HG02976.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0025 a0001c0001t0033	a0001c0001t0002g0011 a0001c0001t0002g0070 a0001c0001t0002g0133 others(9): Show a0001c0001t0002g0011 a0001c0001t0002g0070 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0009g0132 a0001c0001t0010g0170 a0001c0001t0016g0166 a0001c0001t0016g0167 a0001c0001t0016g0169 a0001c0001t0025g0026 a0001c0001t0025g0157 a0001c0001t0033g0171	13	342	0.0380	314	c.238 others(331): Show c.2389-787_2389-786insAGGAAGGAGGGAAGGAGGGAGGGAAGGG AGAGAAGGAGGGAGGGAGTAGGGGAGGAAGGGAGGGAGAGGGAGGAAGGA AGGGGGAAGGAGGAAGAAAGGAGGGAGGGAAGGCGGGAAGGAAGGGGGGA GGGAGGAAGGAAGAGGGAAATGAGGGAAGGAAGGTGGAAAGGAAGGAAGG AGGGAAGGGGAGAGAAGGGGGGAGGGGAGGGAAGGAGAGAAGGAATGAGG GAGGGAGTGGGGGAGGAAGGAAGGAAGGAAGGAGAGGAGGAGGAAAGGAG GGATGGAGGGAAGGAAGGAGGGAAGGGAGAGAAGGA	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPS15_chr1_51349263_51524266	51509246	T T	TTCATATT others(307): Show TTCATATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0040 a0002c0001t0004g0040	1	152	0.0066	314	c.33+ others(329): Show c.33+9952_33+9953insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAATATGA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51509246	T T	TTCATTTT others(307): Show TTCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show HG02109.hp2 HG02717.hp2 HG02818.hp1 HG03209.hp2	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0010 a0002c0007t0010 a0002c0001t0010 a0002c0007t0010	a0002c0001t0010g0041 a0002c0001t0010g0042 a0002c0001t0010g0044 others(1): Show a0002c0001t0010g0041 a0002c0001t0010g0042 a0002c0001t0010g0044 a0002c0007t0010g0043	4	152	0.0263	314	c.33+ others(329): Show c.33+9952_33+9953insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
ERCC6L2_chr9_95870691_96023447	95934454	A A	ATGTGATT others(307): Show ATGTGATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAG GTGGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTTTTTTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0303 a0002c0002t0003g0303	1	392	0.0026	314	c.175 others(333): Show c.1751+5600_1751+5601insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTT TTTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAAGCGTGAGCCACCGCGCCCGGCCTGTGATTTTT	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95934454	A A	ATGTGATT others(307): Show ATGTGATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCA GGTGGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCA GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTTTTTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01928.hp2 NA18947.hp2 others(6): Show HG01243.hp1 HG01928.hp2 NA18947.hp2 NA18951.hp2 NA18969.hp2 NA18995.hp1 NA19058.hp2 NA19070.hp2 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007	a0002c0002t0003g0337 a0002c0002t0003g0338 a0002c0002t0003g0341 others(6): Show a0002c0002t0003g0337 a0002c0002t0003g0338 a0002c0002t0003g0341 a0002c0002t0003g0356 a0002c0002t0003g0365 a0002c0002t0003g0366 a0002c0002t0006g0305 a0002c0002t0006g0339 a0002c0002t0007g0340	9	392	0.0230	314	c.175 others(333): Show c.1751+5600_1751+5601insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTT TTTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAAGCGTGAGCCACCGCGCCCGGCCTGTGATTTTT	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERP44_chr9_99974185_100104000	100087012	T T	TAAAAAAA others(307): Show TAAAAAAAAAAACTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 NA20300.hp1 HG02622.hp2 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0090 a0001c0001t0003g0105 a0001c0001t0004g0110 a0001c0001t0003g0090 a0001c0001t0003g0105 a0001c0001t0004g0110	3	220	0.0136	314	c.57+ others(331): Show c.57+11771_57+11772insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAAAGTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESF1_chr20_13709325_13789919	13723498	T T	TCCTAGAT others(307): Show TCCTAGATGATATTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTTTAGT AGAGACGGAGTTTCACTTTGTTATCCAGGATGGTCTCGATCTCCTGAACT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0240 a0006c0011t0002g0240	1	390	0.0026	314	c.203 others(333): Show c.2039-4515_2039-4514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGA TCGAGACCATCCTGGATAACAAAGTGAAACTCCGTCTCTACTAAAAATAC AAAAAAATAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAATATCATCTAGG	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	11/13			chr20	TogoVar
EXOC4_chr7_133248078_134070761	133895129	T T	TGGTGCGC others(307): Show TGGTGCGCCGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0058 a0001c0003t0018g0058	1	102	0.0098	314	c.173 others(331): Show c.1735-455_1735-454insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGGTGCGCCGTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72281513	A A	ATAGCAGA others(307): Show ATAGCAGAGAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTCAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0008 a0001c0006t0010g0008	1	104	0.0096	314	c.219 others(335): Show c.2196+53433_2196+53434insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAATCTCTCTGCTA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EYS_chr6_63714980_65712226	65454073	T T	TCTATTTT others(307): Show TCTATTTTTCATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG CGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTTTTAGCCGGGATGTTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp1 HG02965.hp1 HG02970.hp1	a0010 a0012 a0010 a0012	a0010c0003 a0012c0005 a0010c0003 a0012c0005	a0010c0003t0001 a0012c0005t0001 a0010c0003t0001 a0012c0005t0001	a0010c0003t0001g0016 a0012c0005t0001g0014 a0010c0003t0001g0016 a0012c0005t0001g0014	2	24	0.0833	314	c.862 others(333): Show c.862+36520_862+36521insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGAACATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCGCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATGAAAAATAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	5/42			chr6	TogoVar

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Search Results (Total: 10000 hits)