Joint Open Genome and Omics Platform (JoGo)

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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ANKRD33B_chr5_10559070_10662816	10639172	CGGCGTTG others(582): Show CGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGC GATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCG GGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTA GCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGC GCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGGCGGTG ACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGA TGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGG GTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGC GGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0281 a0001c0004t0002g0281	1	324	0.0031	-589	c.637 others(17): Show c.637+1007_637+1595del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
CBFA2T3_chr16_88869858_88982207	88954988	GCCCAAGG others(582): Show GCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCTCC TGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCA AGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACCCAAGGCTCCTGACC CCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCTCAGCCAAGGCT CCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACC CAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCATCCAAGGCTCCTGA CCCCAGCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCGCCCAAGG CTCCTGACCTCACCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACCTCA GCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCT GACCTCAGCCAAGACTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAA GGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCC CACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	284	0.0035	-589	c.151 others(19): Show c.151+21080_151+21668del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CNST_chr1_246561456_246673595	246620151	TACAGGGA others(582): Show TACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCTCTGGGC ACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCTCT GGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGG CTCTGGGAACACTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATG GGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACAC GATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTTCAGTCGTGCATAC ACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCATCGTGGTGC ATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCATCGTG GTGCATACACACGATGGGCTCTGGGCACACTACAGGGAGGACGGCTTCAG TCGTGCATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCT TCAGTCGTGCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGG CTTCAGTCGTGGTGCATACACACGATGGGCTCTGGGAACA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03704.hp2 HG04204.hp1 HG03017.hp2 HG03704.hp2 HG04204.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0003 a0008c0007t0003 a0001c0001t0003 a0008c0007t0003	a0001c0001t0003g0206 a0001c0001t0003g0259 a0008c0007t0003g0267 a0001c0001t0003g0206 a0001c0001t0003g0259 a0008c0007t0003g0267	3	320	0.0094	-589	c.380 others(16): Show c.380-1277_380-689del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10			chr1	TogoVar
MLPH_chr2_237482251_237560322	237543201	CACAGTGG others(582): Show CACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTAGG GGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTG GGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGA GTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGAACAGTGGT GAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAG TGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGAC AGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGG ACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGT GGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0141 a0001c0015t0008g0141	1	286	0.0035	-589	c.153 others(18): Show c.1539+555_1539+1143del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(582): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02818.hp2 others(1): Show HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001	a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0011g0327 others(1): Show a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0011g0327 a0001c0002t0001g0196	4	340	0.0118	-589	c.915 others(17): Show c.915+1169_915+1757del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090947	CGCGCCTA others(582): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	340	0.0029	-589	c.915 others(17): Show c.915+1321_915+1909del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092621	CGCGCCTA others(582): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00639.hp2 others(26): Show HG00280.hp1 HG00558.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02602.hp2 HG03139.hp1 NA18943.hp2 NA18972.hp1 NA18977.hp1 NA18983.hp1 NA19060.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0023	a0001c0001t0001g0021 a0001c0001t0001g0071 a0001c0001t0001g0076 others(26): Show a0001c0001t0001g0021 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0324 a0001c0002t0001g0240 a0001c0002t0002g0051 a0001c0002t0002g0248 a0001c0002t0023g0116	29	340	0.0853	-589	c.915 others(17): Show c.915+2984_915+3572del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092869	CGCGCCTA others(582): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	340	0.0029	-589	c.915 others(17): Show c.915+3243_915+3831del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092993	CGCGCCTA others(582): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02071.hp2 HG01261.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0218 a0001c0001t0001g0226	2	340	0.0059	-589	c.915 others(17): Show c.915+3553_915+4141del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM132D_chr12_129066726_129909025	129857109	GTGCCCTT others(582): Show GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGG GATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGA GTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGG ATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	94	0.0106	-589	c.79+ others(17): Show c.79+45563_79+46151del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857152	GTAACAGA others(582): Show GTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGAT GGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAAC AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAAC GGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTG TAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGG GAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0001 a0001c0002t0011g0001	1	94	0.0106	-589	c.79+ others(17): Show c.79+45520_79+46108del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857549	AGGGGAAC others(582): Show AGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGG GTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCA GGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGC TGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGA GTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGG ATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTA ACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGA ACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCC TTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCG GGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGG TGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGA GTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01106.hp2 others(15): Show HG00099.hp1 HG00099.hp2 HG01106.hp2 HG01192.hp2 HG01891.hp1 HG01891.hp2 HG02083.hp1 HG02145.hp2 HG02451.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04204.hp2 NA19091.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0016 others(3): Show a0001c0001 a0001c0002 a0001c0016 a0003c0005 a0004c0017 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0016t0003 a0003c0005t0001 a0004c0017t0001 a0009c0008t0004	a0001c0001t0001g0015 a0001c0001t0002g0026 a0001c0001t0002g0038 others(15): Show a0001c0001t0001g0015 a0001c0001t0002g0026 a0001c0001t0002g0038 a0001c0001t0002g0053 a0001c0001t0002g0081 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0003g0084 a0001c0001t0005g0071 a0001c0001t0006g0007 a0001c0001t0006g0051 a0001c0001t0016g0072 a0001c0002t0001g0024 a0001c0002t0004g0023 a0001c0016t0003g0080 a0003c0005t0001g0069 a0004c0017t0001g0016 a0009c0008t0004g0047	18	94	0.1915	-589	c.79+ others(17): Show c.79+45123_79+45711del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857928	GGGGGAAC others(582): Show GGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGG AGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTA ACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGA ACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCC TTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCG GGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGG TGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGA GTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG03195.hp1 others(1): Show HG02109.hp2 HG02280.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004	a0001c0001t0007g0006 a0001c0001t0007g0027 a0001c0002t0001g0030 others(1): Show a0001c0001t0007g0006 a0001c0001t0007g0027 a0001c0002t0001g0030 a0001c0002t0004g0011	4	94	0.0426	-589	c.79+ others(17): Show c.79+44744_79+45332del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858037	GAACGGGA others(582): Show GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTC CGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATG GGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCC AGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG CTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCC CTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCC GGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG02040.hp2 others(6): Show HG00408.hp2 HG01074.hp1 HG02040.hp2 HG02083.hp2 HG02809.hp1 HG03669.hp1 HG03834.hp2 NA18906.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0007 a0007c0012 a0001c0001 a0001c0007 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0007t0019 a0007c0012t0003	a0001c0001t0001g0059 a0001c0001t0002g0039 a0001c0001t0005g0042 others(6): Show a0001c0001t0001g0059 a0001c0001t0002g0039 a0001c0001t0005g0042 a0001c0001t0005g0056 a0001c0001t0006g0067 a0001c0001t0010g0048 a0001c0001t0015g0005 a0001c0007t0019g0043 a0007c0012t0003g0045	9	94	0.0957	-589	c.79+ others(17): Show c.79+44635_79+45223del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TTC1_chr5_160004139_160070543	160047152	CAACTCTG others(582): Show CAACTCTGACTTCTACCCTGTAGTCTAGTGTCCTGTATCCCACTGCAAAG TTCTTTCTTCTTGGATGTCTGGTAGGCACCTCAGATTTAACGTGCCCAGC CCCCACACACACACAAAACTTGCAGTTAGTTTTTTCCATTCTAATAAATG ACATTACCATCTGTCCCCTTGCTTAAGTTAAACCTTTGGAGTCATCCCTG ATTGTTCTTTCGTGTCACATGGCTAATTGATTAATTAGCAAGTTCCATGG GCTCAAATTTAAAGACATATTTAATGTAATCCGGCTGCTGTTTTCCATCT CTACTACTTCCAGCTTAGACCAAGCCAACATCTTCTCTCATCTGGACCAC TGCATTAGCTTTCCAGCTGATCTCACAGCTTTCAGTCTTGCCCCACCCGC CAACACTACAGCCAAAGCAGTCCTTCAAAAATGTAAATCAGAGTATGTCT GAAGCTTGCTTGAAAACTTTCCAGTGGCTTCTCATCACACTGAGGAAAAA GTCCAAACTCCTTTCCCTGGCCAGGAAGGTCCTCCATGGCCCTACATTTC AGCCTCTGATCCCCAGCCTGATAACTCACATGCCAGAGTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00423.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0264 a0001c0001t0001g0265	2	384	0.0052	-589	c.542 others(17): Show c.542-2360_542-1772del	TTC1	ENSG00000113312.12	transcript	ENST00000231238.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ACTN2_chr1_236681499_236769631	236756001	TGTTAGAA others(581): Show TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACC GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTA GAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAG AACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGA ACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAA CCCTGGTTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCATTAGAAC CCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACC CTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCC TGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 NA18906.hp1 HG02109.hp2 HG02572.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0005 a0001c0031t0005 a0001c0001t0005 a0001c0031t0005	a0001c0001t0005g0055 a0001c0001t0005g0080 a0001c0031t0005g0053 a0001c0001t0005g0055 a0001c0001t0005g0080 a0001c0031t0005g0053	3	344	0.0087	-588	c.215 others(17): Show c.2154+839_2155-862del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADARB2_chr10_1172313_1742525	1700296	TACACGCA others(581): Show TACACGCAATCCCACTCTACCAGGAGACCGGGCACTCGCCAACACACACA ATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACACTCAATCCCACT CCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCAGG AGACCGGGCACTCGCCAACACACACAATCCCACTCCACCGGGAGACCAGG CGCTCGTCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTCGCC AATACACTCAATCCCACTCCACCGGGAGACCAGGCACTCGCCAACACACA CAATCCCACTCCACCGGGAGACCAGACGCTAGTCAATACACGCAATCCCA CTCCACCGGGAGACCGGGCGCTCGCCAATACATGCAATCCCACTCCACCG GGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACCG GGCACTCGCCAACACACACAATCCCACTCCACCGGGAGACCAGGCGCTCG TCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACA CTCAATCCCACTCCACCGGGAGACCAGGCACTCGCCAAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02622.hp2 others(5): Show HG01884.hp1 HG01884.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG03209.hp1 HG03540.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0001t0049 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0049 a0001c0003t0001 a0001c0007t0033 a0002c0002t0021 a0002c0002t0038 a0002c0014t0008	a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0049g0040 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0049g0040 a0001c0003t0001g0070 a0001c0007t0033g0041 a0002c0002t0021g0035 a0002c0002t0038g0048 a0002c0014t0008g0060	8	106	0.0755	-588	c.100 others(19): Show c.100+36167_100+36754del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111366	ACCAGACA others(581): Show ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGA CACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATC CCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGA CAACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGC CCGCCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACA GACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCA GACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19030.hp2 HG02615.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0066 a0001c0001t0064 a0001c0001t0066	a0001c0001t0064g0215 a0001c0001t0066g0216 a0001c0001t0064g0215 a0001c0001t0066g0216	2	368	0.0054	-588	c.401 others(17): Show c.401+8531_401+9118del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89429214	GACTCTCA others(581): Show GACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGAC GTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGT ACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCA GGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCT CAACTCTCAGGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTC GCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAG TCGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG04199.hp1 HG03471.hp2 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0269 a0002c0002t0002g0245 a0002c0002t0002g0269	2	310	0.0065	-588	c.-14 others(21): Show c.-144-11434_-144-10847del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429228	ACGCTCAG others(581): Show ACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAG ACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTC TAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGA CTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGC TCAGTCGTTCTAGTACACAGCAGGTACTCTCAACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG03209.hp1 HG02451.hp1 HG02895.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0003c0017 a0001c0001 a0003c0008 a0003c0017	a0001c0001t0001 a0003c0008t0003 a0003c0017t0003 a0001c0001t0001 a0003c0008t0003 a0003c0017t0003	a0001c0001t0001g0197 a0003c0008t0003g0044 a0003c0017t0003g0028 a0001c0001t0001g0197 a0003c0008t0003g0044 a0003c0017t0003g0028	3	310	0.0097	-588	c.-14 others(21): Show c.-144-11448_-144-10861del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ATP10A_chr15_25673712_25868327	25758193	CCTAACTC others(581): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02451.hp1 HG02965.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0006 a0002c0002 a0008c0006	a0002c0002t0001 a0008c0006t0001 a0002c0002t0001 a0008c0006t0001	a0002c0002t0001g0029 a0008c0006t0001g0023 a0002c0002t0001g0029 a0008c0006t0001g0023	2	300	0.0067	-588	c.654 others(19): Show c.654+22238_655-22053del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
BANP_chr16_87946434_88082316	88053702	TCATCATC others(581): Show TCATCATCATCACCAACACAACCACCTTCACCACCACCTCTACTGTCATC TCCATCATCATCACCAACACAGCCACCCTAACAACCACTACCACCACCAC CTCTACTATCTCCATCATCACCAACACAACCACCTTAACAACCACTACCA CCCCCACCTCCTTCACTATCATCACCATCACCAACACAGTCCCCTTCACC ACCACCACCACCTCTACCACTGTCATCTCCATCATCATCACCAACACAAC CACCCTAACAGCCACTCCCACCTCCTTCACTATCATCACCATCACCAACA CAACCACCTTTACCACCACCACCACCTCTACCACTGTCATCTCCATCATC ATCATCACCAACACAACCACCTTCACCACCACCTCTACTGTCATCTCCAT CATCATCACCAGCACAACCACAACCACCTTAACAAACACTACCACCACCA CCTCCACCATCATCTCCATCATCATCATCATCACCAACACAACCACCCTA ACGACTACCACCCCCACCTCCTTCACTATCATCACCATCACCAACACAGT CACCTTCACCACCACCACCACCTCTACCACTGTCATCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02280.hp2 others(6): Show HG01891.hp2 HG02055.hp1 HG02280.hp2 HG02615.hp2 HG02809.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0031 a0001c0007 a0001c0008 a0001c0031	a0001c0007t0001 a0001c0008t0001 a0001c0008t0004 others(1): Show a0001c0007t0001 a0001c0008t0001 a0001c0008t0004 a0001c0031t0001	a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 others(6): Show a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 a0001c0008t0001g0347 a0001c0008t0004g0146 a0001c0031t0001g0162	9	352	0.0256	-588	c.131 others(21): Show c.1312-11531_1312-10944del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647732	GGACCCAG others(581): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAG AAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18977.hp1 NA18980.hp1 others(1): Show HG00673.hp1 NA18977.hp1 NA18980.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0189 a0001c0001t0001g0006 a0001c0001t0001g0189	4	392	0.0102	-588	c.253 others(15): Show c.253-989_253-402del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CIBAR2_chr16_85093358_85117472	85115881	CGACCTCA others(581): Show CGACCTCAGGTGATCTGCGCACCTCGGCCTCCCAAAGTGCTGGGATTACA GGCATGAGCCACTGCACCTGGCCCTGTAAATGTGTTTTTGGGGAACCACA TGGGAGAGGGTTGCAGACATCAAGAAATCCAGGGAGCACCTCCAAAGAGT AAGGACGTCTCCCGCAGGTCCACCTGTGACTCCACACCCAGGAAATTCAC ACGGCCGTGCTGGCATCTGACACTGTCCATAGGCTCACTTGCCACATCCA GCCGCTGCCGTCATGGCAGCCGGTTTTCCCCGGATCCAGGGGGGTCTGCA ATGACTACCTGGGTCTACATAGTCTCCTGGAATCAGAAACTGTTCTCAGT TTTTTTTGTTTTTGTTTTCGTTTTTTCTAAGATGGAGTTTTGCTCTTGTC ACCCAGGCTAAGGTGCAATGGCACAATCTCAGCTCACTGCAACCTCCGCC TCCTGGGTTCAAGCCATTGTCCTGCATCAGCCTCCTGAGTATCTGGTATT ACAGGCGCCCACCACCATGCAGGGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTTACCACGTTGGTCAGGCTGGTCTCAAACTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(183): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18953.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0004c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0005t0010 a0002c0003t0003 a0003c0004t0001 a0004c0007t0008 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(126): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0043 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0003g0050 a0001c0001t0003g0216 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0004g0004 a0001c0001t0004g0156 a0001c0001t0004g0195 a0001c0001t0004g0206 a0001c0001t0004g0211 a0001c0001t0005g0010 a0001c0001t0005g0023 a0001c0001t0005g0038 a0001c0001t0005g0054 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0147 a0001c0001t0006g0014 a0001c0001t0006g0034 a0001c0001t0006g0060 a0001c0001t0007g0041 a0001c0001t0007g0171 a0001c0001t0007g0189 a0001c0001t0008g0046 a0001c0001t0008g0179 a0001c0001t0008g0201 a0001c0001t0008g0212 a0001c0001t0009g0048 a0001c0001t0009g0227 a0001c0001t0009g0238 a0001c0001t0010g0022 a0001c0001t0011g0047 a0001c0001t0011g0217 a0001c0001t0011g0242 a0001c0001t0014g0228 a0001c0001t0016g0095 a0001c0001t0017g0096 a0001c0001t0018g0071 a0001c0001t0022g0154 a0001c0001t0023g0215 a0001c0001t0024g0226 a0001c0001t0025g0237 a0001c0002t0002g0026 a0001c0002t0002g0191 a0001c0002t0003g0016 a0001c0002t0003g0229 a0001c0002t0003g0231 a0001c0002t0008g0182 a0001c0005t0010g0080 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0223 a0003c0004t0001g0019 a0004c0007t0008g0205 a0006c0008t0001g0088	186	436	0.4266	-588	c.-41 others(11): Show c.-4117_-3530del	CIBAR2	ENSG00000153789.14	transcript	ENST00000539556.6	protein_coding		3410		chr16	TogoVar
CIBAR2_chr16_85093358_85117472	85115899	GCACCTCG others(581): Show GCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACC TGGCCCTGTAAATGTGTTTTTGGGGAACCACATGGGAGAGGGTTGCAGAC ATCAAGAAATCCAGGGAGCACCTCCAAAGAGTAAGGACGTCTCCCGCAGG TCCACCTGTGACTCCACACCCAGGAAATTCACACGGCCGTGCTGGCATCT GACACTGTCCATAGGCTCACTTGCCACATCCAGCCGCTGCCGTCATGGCA GCCGGTTTTCCCCGGATCCAGGGGGGTCTGCAATGACTACCTGGGTCTAC ATAGTCTCCTGGAATCAGAAACTGTTCTCAGTTTTTTTTGTTTTTGTTTT CGTTTTTTCTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTAAGGTGCAA TGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATT GTCCTGCATCAGCCTCCTGAGTATCTGGTATTACAGGCGCCCACCACCAT GCAGGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCACGTTGG TCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG02071.hp1 others(9): Show HG01255.hp2 HG01891.hp2 HG02071.hp1 HG02074.hp2 HG02698.hp2 NA18952.hp2 NA18961.hp2 NA18982.hp2 NA18984.hp2 NA18992.hp1 NA19002.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0040 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0148 a0001c0001t0002g0193 a0001c0001t0002g0202 a0001c0001t0004g0004 a0001c0001t0004g0163 a0001c0001t0019g0122	12	436	0.0275	-588	c.-41 others(11): Show c.-4135_-3548del	CIBAR2	ENSG00000153789.14	transcript	ENST00000539556.6	protein_coding		3428		chr16	TogoVar
DCDC2C_chr2_3698575_3853008	3775148	GGCTGTGA others(581): Show GGCTGTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGA GCTAGGCAGCTGTGGCTGTGGACTAGGCAGCTGTGGCTCTGAGCTAGGCA GCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGC TGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCT AGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCT GTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCT GAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGG CAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTG GCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGG CTAGGCACCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAG CTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCT GTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18992.hp2 NA19074.hp1 NA18989.hp1 NA18992.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0005 a0001c0002t0002 a0002c0004t0001 a0001c0001t0005 a0001c0002t0002 a0002c0004t0001	a0001c0001t0005g0120 a0001c0002t0002g0146 a0002c0004t0001g0194 a0001c0001t0005g0120 a0001c0002t0002g0146 a0002c0004t0001g0194	3	324	0.0093	-588	c.955 others(17): Show c.955-3661_955-3074del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	321947	CTGTTAGA others(581): Show CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAA CAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAAC AGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAACA GTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0003 a0001c0009t0003g0003	1	88	0.0114	-588	c.392 others(19): Show c.3924+4471_3924+5058del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DPH7_chr9_137549444_137583925	137565280	TCTGTCTG others(581): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	340	0.0029	-588	c.641 others(15): Show c.641-714_641-127del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566902	TGTCTGTG others(581): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	340	0.0029	-588	c.641 others(17): Show c.641-2336_641-1749del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567958	GGGGTGAC others(581): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0309 a0001c0009t0002g0308 a0001c0001t0002g0309 a0001c0009t0002g0308	2	340	0.0059	-588	c.641 others(17): Show c.641-3392_641-2805del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DVL3_chr3_184150377_184178614	184159027	CGGCCTCC others(581): Show CGGCCTCCCCAAGTGCTGGGATTACAGGTGATGAGCCACCGCGCCTGGCC TGCCATCTTAAGTTATTTGAGAAATGGAGGAAGGATAAACATTTTCAGCA TTGAGGGCATGGTGGATGGTTCATAGAAGTAAGGTGCCTACTGCTAGTCT GGCCTTGAGCTGTGAGAGAGGGCAGCATGGCGATCAGGTCATTAGCTGTG TGGCTTCCTGCTCCACTGTCCTCCCTCTGGGCCTTCCACCTGCAGACTCT TCTTCCCCTGTCTCCTCCAGGTTCAAATTCTCCTGTCTTCTGGGTTGAGC TTTTCTGTGAGAACTGTCATGGCACTCTCTTATTTTATCCTTTTTTTTTT TTTTTGAGATGGAGCCTGGCTTTGTCACCCAGGCTGGGGTACAGTGGTGC GACCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTG CTTCAGCCTCACAAATAGCTGGGACTACTGGTGTGTGCCACCACACCTGG CTAATTTTTGTATTTTAAATAGAGATGGGGTTTTGCTACGTTAGCCAAGC TAGTCACGAACTCTTGACCTCAAGTGATCCGCCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(198): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0002c0002 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0004t0006 a0001c0007t0004 a0001c0010t0003 a0002c0002t0002 a0002c0002t0010 a0006c0012t0003	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0002g0002 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0113 a0001c0001t0002g0124 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0004g0005 a0001c0001t0004g0038 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0111 a0001c0001t0004g0123 a0001c0001t0005g0010 a0001c0001t0005g0042 a0001c0001t0005g0046 a0001c0001t0006g0019 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0008g0013 a0001c0001t0008g0047 a0001c0001t0011g0027 a0001c0001t0012g0109 a0001c0001t0012g0110 a0001c0001t0013g0008 a0001c0001t0013g0041 a0001c0001t0014g0008 a0001c0001t0016g0105 a0001c0001t0017g0002 a0001c0001t0018g0108 a0001c0001t0019g0010 a0001c0001t0020g0002 a0001c0001t0023g0002 a0001c0001t0024g0058 a0001c0001t0025g0005 a0001c0001t0027g0043 a0001c0001t0028g0070 a0001c0004t0006g0072 a0001c0004t0006g0073 a0001c0007t0004g0040 a0001c0010t0003g0009 a0002c0002t0002g0003 a0002c0002t0010g0003 a0006c0012t0003g0052	201	400	0.5025	-588	c.161 others(17): Show c.161+3240_161+3827del	DVL3	ENSG00000161202.20	transcript	ENST00000313143.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDDM13_chr19_56267748_56315454	56306541	TTCTCCCA others(581): Show TTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCT TCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCA GAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCA AAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGA CAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTG GCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCT CTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGC CAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGATAGCTA CAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAG GACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCC CGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGAGATTT CTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG03209.hp2 others(2): Show HG02572.hp2 HG02886.hp2 HG03209.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0098 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0353 a0001c0001t0001g0354	5	396	0.0126	-588	c.461 others(17): Show c.461+1810_461+2397del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERC1_chr12_986223_1500931	1087512	GTTATTAT others(581): Show GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCGTTATTATTATTGTTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG02559.hp2 others(1): Show HG01261.hp1 HG02145.hp1 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 others(1): Show a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0138	a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 others(1): Show a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 a0001c0001t0138g0095	4	162	0.0247	-588	c.108 others(19): Show c.1086+4217_1086+4804del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121849	CTCTATCT others(581): Show CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTATCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCT ATCTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	162	0.0062	-588	c.156 others(19): Show c.1569+5818_1569+6405del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
HDAC4_chr2_239043168_239406020	239069168	GGTGCAAG others(581): Show GGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACG GTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACGG TGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACGGT GCAAGCCAGCAAGCCCCACTGCACTTGCTGGGTGAGAGGGAGTCACGGTG CAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGTCACGGTGC AAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGTCACGGTGCA AGCCAGCAAGCCCCACGACACTTGCTTGGTGAGAGGGAGTCACGGTGCAA GCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACAGTGCAAG CCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACAGTGCAAGC CAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACGGTGCAAGCC AGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACGGTGCAAGCCA GCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(11): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00642.hp1 HG01517.hp2 HG02015.hp1 HG02683.hp2 HG03017.hp2 HG03654.hp1 HG03654.hp2 HG04204.hp2 HG04228.hp1 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0001c0027 a0008c0029	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0009 a0001c0002t0020 a0001c0006t0045 a0001c0012t0028 a0001c0012t0030 a0001c0027t0009 a0008c0029t0042	a0001c0001t0001g0085 a0001c0001t0001g0136 a0001c0001t0001g0150 others(11): Show a0001c0001t0001g0085 a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0209 a0001c0001t0005g0099 a0001c0001t0006g0189 a0001c0002t0009g0185 a0001c0002t0020g0086 a0001c0002t0020g0175 a0001c0006t0045g0135 a0001c0012t0028g0133 a0001c0012t0030g0225 a0001c0027t0009g0148 a0008c0029t0042g0204	14	242	0.0579	-588	c.275 others(18): Show c.2751-1149_2751-562del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
MPPED1_chr22_43407014_43512848	43499704	ATGATGGT others(581): Show ATGATGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATG GTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCG GTGGTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGGGGT GGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTAG TGGGGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTG GTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTAAT GGAGGTGGTGGGGGTGATGGTGGAGGTGGTGATGGAGGTGGCAGTGATGA TGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG03453.hp2 HG01496.hp2 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0019 a0001c0009t0002 a0001c0009t0019	a0001c0009t0002g0205 a0001c0009t0002g0222 a0001c0009t0019g0188 a0001c0009t0002g0205 a0001c0009t0002g0222 a0001c0009t0019g0188	3	250	0.0120	-588	c.748 others(17): Show c.748+1357_748+1944del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
SHC2_chr19_411589_466033	429109	GTGCACGG others(581): Show GTGCACGGAAACCTAACACTGTGTGGATGATGCAGTACCTATATCCAACA TGCACAGAAACCTAACACCGTGTGGATGACGCAGTACCTATATCCAACAT GCAGAGAAACCTAATACCGTGTGGATGACACAGTACCTATACCCAACATG CACGGAAACCTCATACCGTGTGGATGACGCAGTACCTATACCCAACATGC ACGGAAACCTAACACCGTGTGGATGACGCAGTACCTATACCCAACACGCA CGGAAACCTAACACCGTGTGGATGACGCAGTACCTATATCCAACATGCAG AGAAACCTAATACCGTGTGGATGACACAGTATCTACACCCAACGTGCACA GAAACCTAATACCGTGTGGATGACGCAGTACCTATACCCAACGTGCACGG AAACCTAACACCGTGTGGATGACGCAGTACCTATATCCAACGTGCACAGA AACCTAACACCGTGTGGATGACGCAGTACCTATACCCAACATGCAGAGAA ACCTAATACCGTGTGGATGACACAGTACCTATACCCAACATGCACGGAAA TCTCATACCGTGTGGATGACGCAGTACCTATACCCAACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01358.hp1 HG00733.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0160 a0001c0016t0001g0144 a0001c0001t0001g0160 a0001c0016t0001g0144	2	212	0.0094	-588	c.117 others(18): Show c.1174+987_1174+1574del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
TAF4_chr20_61969798_62070881	62057665	GGGGGGCC others(581): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGG GCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAG GCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGG ACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCA ACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCA CAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACG GACACAGGCCTACACACCAGGCCACAGACAATGGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03669.hp2 NA18747.hp2 HG02027.hp2 HG03669.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0013t0001g0312 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0013t0001g0312	3	314	0.0096	-588	c.136 others(19): Show c.1360+6198_1360+6785del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TSC22D1_chr13_44427143_44581330	44483710	ATTGGCTG others(581): Show ATTGGCTGACCCTGAACATAGACAGGATATTATTTGAATAGCTTAAAACG CCCACATTCTACAGACTGGTCAATTAAGTTAAAGGACATGCAGAAAGATG CTGGACTTGGAATATGCCATTGGGAAAAATCCAAACGTACACCAAGAAGT AATTATTCTGACCTAACAGTAGATGGCGCTAATACAACGTATCCTTTTCA TTAAAAAATGGTCCATTTAGCCTTCTAGATTATTTTTATGAATGCAACCA GGGCTCTTAAATTAGGTACAATTTGATTCATATAATTTCATTTCTAACCT AATTTTGCTTAAGCTGAACACATAGGTATCTTATACACGAATCTTGGCCC TTTTTAAAAGCATTACTTAAACATAGATTAAAAAGCTACAAAATTTGCTA ACAAATAAAACAGACATACATACTATCACAAAGTTTGAAACTGAAAAAAG TAGGAACAGGTTTTAAAAAACCCTCAAAACAAATAGTATCTGAACGTTTT GAGGTTTGAGTAGCCTAAGAGTTTGAAATTATGCCTACAGTTCAACTATG GGAATGCTAAAAAAAATCCCTCAAAAATCTCTAGTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0232 a0001c0006t0021g0232	1	240	0.0042	-588	c.291 others(21): Show c.2913-48203_2913-47616del	TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2			chr13	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306541	TTCTCCCA others(581): Show TTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCT TCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCA GAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCA AAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGA CAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTG GCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCT CTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGC CAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGATAGCTA CAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAG GACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCC CGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGAGATTT CTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG03209.hp1 others(2): Show HG02572.hp2 HG02886.hp1 HG03209.hp1 HG03453.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0004c0005t0003 a0001c0001t0001 a0001c0001t0003 a0004c0005t0003	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0347 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0347 a0001c0001t0003g0004 a0004c0005t0003g0003	5	362	0.0138	-588	c.-12 others(19): Show c.-128+6154_-128+6741del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
AMZ1_chr7_2683202_2724683	2691068	GAGGAGAA others(580): Show GAGGAGAAGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCC TGGGTGACAGAGGCAAAAAAAAAAAAAAAAAAAGCATTTCTCATTTCCTG ATGCTTTGCCTGGAGTAGGAGGGTTTGCTGGCAGGGAAGCCTCTGACCAG GGTTTTCGGGTGGTCAGGTGGGTGTGGGTGCTGGCAGGAAAGCCCCCTCA AGAGTAGGGGAAGGTCCGTGTGTGAGGACTGGAGTCAGGGGTCTCTGTGC TGGGAGTCAAGATCCAGGTGAGCTGTGTAACCCTGGGCAAGTGGCTTTCC CTCTCTGAGCCTCAGTCTCCTGGGTTATGACATGGGTGAATCTCAGGATG GCTTTGGAGGTCGGACAAGGTGTTGCATCAGAAAGTGATTTTGGGCCGGG CGCGGTGGCTCACACATATAATCCCAGCACTTCGGGAGGCCGAGGCGGGT GGATCACAAGGTCAGGAGTCTGAGAACAGCTTGGCCAATATGGTGAAACC TCGTTTCTACTAAAAATACAAAAATAAGCTGGGTGTGGTCGTGAGCGCCT GCAGTCCCAGCTGTTCGGGAGGCTCAGGCAGTGAACCC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01167.hp1 others(19): Show HG00639.hp2 HG00741.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01496.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0002c0003 a0002c0010 a0002c0015 a0006c0049	a0001c0001t0030 a0001c0002t0004 a0001c0009t0125 others(13): Show a0001c0001t0030 a0001c0002t0004 a0001c0009t0125 a0001c0009t0133 a0001c0011t0096 a0002c0003t0006 a0002c0003t0018 a0002c0003t0037 a0002c0003t0038 a0002c0003t0040 a0002c0003t0108 a0002c0003t0112 a0002c0003t0160 a0002c0010t0144 a0002c0015t0052 a0006c0049t0025	a0001c0001t0030g0174 a0001c0002t0004g0137 a0001c0002t0004g0148 others(19): Show a0001c0001t0030g0174 a0001c0002t0004g0137 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0009t0125g0169 a0001c0009t0133g0143 a0001c0011t0096g0133 a0002c0003t0006g0129 a0002c0003t0006g0132 a0002c0003t0006g0140 a0002c0003t0006g0147 a0002c0003t0018g0138 a0002c0003t0037g0146 a0002c0003t0038g0144 a0002c0003t0040g0134 a0002c0003t0108g0142 a0002c0003t0112g0135 a0002c0003t0160g0139 a0002c0010t0144g0136 a0002c0015t0052g0141 a0006c0049t0025g0145	22	438	0.0502	-587	c.-21 others(19): Show c.-219+2778_-219+3364del	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHMP1A_chr16_89639435_89662708	89647785	GGGGTCGG others(580): Show GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAA AGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG GACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGC	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	392	0.0026	-587	c.252 others(15): Show c.252+979_253-455del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647827	GGGGTCGG others(580): Show GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCG TGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG GACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGC	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	392	0.0026	-587	c.252 others(15): Show c.252+937_253-497del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
DCC_chr18_52335197_53540899	53085986	CTTCTCCT others(580): Show CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCT TTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTC TTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCT TCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19057.hp1 HG02572.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0020 a0001c0002 a0002c0020	a0001c0002t0005 a0002c0020t0007 a0001c0002t0005 a0002c0020t0007	a0001c0002t0005g0028 a0002c0020t0007g0113 a0001c0002t0005g0028 a0002c0020t0007g0113	2	114	0.0175	-587	c.126 others(21): Show c.1261+19825_1261+20411del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DMRT1_chr9_836697_974090	871681	AGCCAGGA others(580): Show AGCCAGGATGGTCTCAATCTCCTGACCTCGTGATTCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCAACCGTGCCTGGCCGGCCTAG TCTTTGAACTCTTAAAGCTGCATTTCTTTTGGAAGATGGCCCAGCATTTT TGTCTGATTCTTCAAGGAGTCTGTGACCTAAAAAGTATTAAGAACCACTG CTTTGAGTTTAAAACGATGGCCCTTTTCCAACAACTACCATTTCTTGTTA TATTTTCTTCATCTCTCTATATACCTATTTACATTTTTCTATTGATTTCT GAGTAAATAGGAAGCAGACTTTATATTATTTGAGACCCTTCTAAAAATAA CTTACTGAGGTATAATTTACATGCCATAAAACTCACCATCTTTTTTTTTG TGATGGCATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATTTC GGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTGAG CCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCAGGCTAATT TTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01891.hp1 others(4): Show HG00741.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02976.hp1 HG03139.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0002c0002t0003 a0002c0005t0005 a0002c0005t0020	a0001c0001t0004g0116 a0001c0001t0007g0255 a0001c0001t0016g0267 others(4): Show a0001c0001t0004g0116 a0001c0001t0007g0255 a0001c0001t0016g0267 a0002c0002t0003g0254 a0002c0005t0005g0021 a0002c0005t0005g0023 a0002c0005t0020g0022	7	306	0.0229	-587	c.539 others(19): Show c.539-22224_539-21638del	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC5_chr20_63890126_63941011	63919381	CGCACCCG others(580): Show CGCACCCGGCTGTGTGGACATGTGCCCAGGGCCCAGGACAGCGCCACGGA AGAGGACACACCCGGCTGTGTGGACATGTGCCCAGGGCCCGGGACAGCGC CACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCCCGGGA CAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGC CCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCC CAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGGACA TGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACAGGACAGCG CCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCCCGGG ACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGG CCCGGGACAGCGCCATGGAAGAGGACGCACCCGGCTGTGTGCACATGTGC CCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCAC ATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	372	0.0027	-587	c.-11 others(17): Show c.-11-8920_-11-8334del	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64011987	TCTTTCTT others(580): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTT CTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC GGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGG AAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAG GAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACAC CTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAA ATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00673.hp1 others(27): Show HG00140.hp1 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02523.hp2 HG02738.hp1 HG03239.hp1 HG03491.hp1 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA19005.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0003t0001 a0002c0006t0001 a0001c0001t0001 a0001c0003t0001 a0002c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(26): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0003t0001g0001 a0002c0006t0001g0020	30	294	0.1020	-587	c.152 others(18): Show c.1524+774_1524+1360del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
VGLL4_chr3_11551069_11648915	11604396	CTAAGACT others(580): Show CTAAGACTGTGCAGCCTCACACAAGGCTTACAGCAAAGGAAAAGAATCCG CACATAAGGTCAGGGACAGGTCCGTTCAGTTATGTGCCTTTATGCATCTT TGGGGCCCCTCCCTAGATGGCCTTAACCCAACACTTGTATGTTAGACAAG AGTGGTAACTGTTGTATGTGTGGTGGGGTTAAAATTATTTTTGTAAAACT GAAGCAGACATTTGTTCTGGGAGATAAGACACTTGCATTGCAATCTTGAC TCCTCCTTTATTTAGGATGGGGTGAATTTGGGCACGTGCTTCCCCTCTCT GGGCCTCCCTCCATACAACAAGGGGCTGGACTAGCTAATGTGTCATGTTC TTTCCAGCTCTTAGAATTACTGATGCAATTCTATGATCAACAAGTGACCA ACCAACTAACCAACATTTACAAAGAAATTGCTACTTGTGTAATGGTGAAC TAAGACAGCAAAACTCAAGGTATGTACCTCAGATGTTATTCATCGAAAAA AACAAGGGTGACCCTGGGGTCAAATAAATTTGGAAACCGTGAGATTGAAC AACTTTTACAGGAGTTTAACTACAGGCCTTTCTGTCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	388	0.0026	-587	c.83- others(15): Show c.83-2961_83-2375del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
ZNF516_chr18_76352682_76500242	76393475	CGGGTGGT others(580): Show CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0265 a0001c0001t0023g0265	1	346	0.0029	-587	c.181 others(21): Show c.1811-13759_1811-13173del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
BABAM2_chr2_27885729_28343901	28136896	ATGAGTAA others(579): Show ATGAGTAAGGATATTACATTCGGATAAATTGGATCAAATACGTTTTTTAA AAGCAATAAGCAAGTTAAATATATTGGTATATGTGATTTTATTTACCACC AAATTTGATATCTTAACAGAATGGAAAATTTTTATTTTAGATGCTTAAAA TATTTTTAAAACAATGAGAAAAATTGTATAACTAACAGGTATAGATTTTA AAGAAAAAAATTCTTGCCTTGAAAAAAAATCCGTATCAGTCTTCTCAAAA AAGAGACCTTCCAGATCTCTTAGGCTGATTTTGTGTCAGGATTTAAGTAA TAGAACGTAATAGTAAACATGGTTTAATTTAGCCTTACTCATGTTTTCTC GAGTCACTGAGATAATCCTATAATAAATATTGTGCTCCTGGAGAGTTTTT TTCTTTAGTCCTTTGATAAATAGATGGTCCTGAGTATGCTAAGACAGCCA GCTCTCAGGAGAAGATATGTATTTGATTTTGGTAGAGAGAGCTGTCTTAT CCTCTAGGGACTTGAGATGTTCGTTTTACTAGTCTGGGAGCAGGGCCAAA AGGGTTCTTCATGACTTAGAATGGAATTCTGAAAAGT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	158	0.0063	-586	c.680 others(17): Show c.680+7517_680+8102del	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)