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 (≤).

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PPP6R2_chr22_50338327_50450090	50433239	CGCTGGGC others(365): Show CGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGC CGGGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAAC CTGGAGGAGGGCTGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCT CTGGAGGTGAACCTGGAGGAGGGCTGGGGGCATGGATGCTGGGCAGGGGC CGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGCTGGGGGTGCGGACG CTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCTG GGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCT GGAGGAGGGCCGGGGGCATGGAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG01891.hp1 others(12): Show HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02738.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp2 HG04184.hp2 NA19011.hp2 NA19030.hp2 NA19081.hp1 NA20129.hp2 NA20300.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0020c0019	a0001c0001t0001 a0001c0001t0029 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0029 a0001c0003t0002 a0001c0008t0004 a0020c0019t0004	a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0029g0238 others(12): Show a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0029g0238 a0001c0003t0002g0180 a0001c0003t0002g0212 a0001c0008t0004g0288 a0001c0008t0004g0290 a0001c0008t0004g0291 a0001c0008t0004g0297 a0001c0008t0004g0299 a0001c0008t0004g0301 a0001c0008t0004g0302 a0001c0008t0004g0304 a0001c0008t0004g0338 a0020c0019t0004g0292	15	340	0.0441	-372	c.140 others(18): Show c.1400+992_1401-1274del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50433388	TCTGGAGG others(365): Show TCTGGAGGTGAACCTGGAGGAGGGCTGGGGGCATGGATGCTGGGCAGGGG CCGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGCTGGGGGTGCGGAC GCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCT GGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACC TGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTC TGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCC GGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCGGACGC TGGGCAGGGGCCAGGCATTTGCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	340	0.0029	-372	c.140 others(19): Show c.1400+1084_1401-1182del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCA_chr17_66297613_66815743	66799173	TGGTGATG others(365): Show TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTG GTGGTGATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0076 a0001c0003t0010g0076	1	178	0.0056	-372	c.185 others(19): Show c.1855-4695_1855-4324del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RIPK1_chr6_3063494_3120187	3090823	CGCACCTA others(365): Show CGCACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02886.hp2 HG02895.hp2 HG01192.hp2 HG02886.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0236 a0001c0001t0001g0329 a0001c0001t0001g0035 a0001c0001t0001g0236 a0001c0001t0001g0329	3	340	0.0088	-372	c.915 others(17): Show c.915+1169_915+1540del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090857	ACCTACCT others(365): Show ACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	340	0.0029	-372	c.915 others(17): Show c.915+1228_915+1599del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092209	TAACCGCA others(365): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGA ACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTG CCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAG CGCGCCTACCTGCCGCACCTCGG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0191 a0001c0001t0010g0191	1	340	0.0029	-372	c.915 others(17): Show c.915+2561_915+2932del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(365): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	340	0.0029	-372	c.915 others(17): Show c.915+2995_915+3366del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093179	CGCGCCTA others(365): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19240.hp1 HG02257.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0231 a0001c0001t0003g0056 a0001c0001t0003g0231	2	340	0.0059	-372	c.915 others(17): Show c.915+3573_915+3944del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093639	CGCAGCGC others(365): Show CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGAGCG CCTACCTGCCGCACCTAGTAACT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	340	0.0029	-372	c.915 others(17): Show c.915+4013_915+4384del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RPH3AL_chr17_207389_357807	233839	CCCCTGAC others(365): Show CCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTCCCCTGACCAACT TTCCCCCAAGCGGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAG GGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTT ACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACT TCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGG AGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTAC CCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTC CCTGAGCAGGGAGCGGCTACTTA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	-372	c.613 others(19): Show c.613+12900_613+13271del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	233937	AGGGAGCG others(365): Show AGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTAC TTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAA CTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAG GGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTT ACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACT TCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGG AGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTAC CCTGACCAACTTTCCCCCAAGCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	133	0.0075	-372	c.613 others(19): Show c.613+12802_613+13173del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288269	TCCGTCCC others(365): Show TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0093 a0002c0028t0001g0093	1	290	0.0035	-372	c.166 others(17): Show c.1662+240_1662+611del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1238235	TAGGAAAG others(365): Show TAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG AGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCA GGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGG CCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCAGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAG GTTTGGAGTGAGCCAGGGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02015.hp1 HG02818.hp2 others(6): Show HG01081.hp1 HG02015.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG04204.hp1	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0002 a0009c0011 a0010c0012 a0001c0002 a0009c0011 a0010c0012	a0001c0002t0001 a0009c0011t0001 a0010c0012t0003 a0001c0002t0001 a0009c0011t0001 a0010c0012t0003	a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0002t0001g0136 others(5): Show a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0002t0001g0136 a0009c0011t0001g0292 a0009c0011t0001g0293 a0009c0011t0001g0294 a0010c0012t0003g0032 a0010c0012t0003g0242	9	456	0.0197	-372	c.732 others(15): Show c.732+207_732+578del		SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC2_chr6_168436184_168672992	168572739	GCATCCCC others(365): Show GCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTT CATTTCCTGCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCT GAACGCGATGTTCATTTCCTGCCCGCATCTCCGGGTGCTGGGACCAGGGC TGCGTGGTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCTGGTGC CGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCTCCCCAC ATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCA TTTCCTCCCCGCATCCCCGGGTGCGGGGACCAGGGCTGCGTGCTCCTTGG ACGCGATGCTCATTTCCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0125 a0001c0002t0002g0063 a0001c0001t0001g0125 a0001c0002t0002g0063	2	180	0.0111	-372	c.637 others(19): Show c.637+23568_637+23939del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168572863	GCATCTCC others(365): Show GCATCTCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTT CACTTCCTCCCCGCATCCCCTGGTGCCGGGACCAGGGCTGCGTGCTCCTT GGACGCGATGCTCATTTCCTCCCCACATCCCCGGGTGCTGGGACCAGGGC TGCGTGGTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGC GGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCTTCCCAC ATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAATGCGATGTTCA CTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCTTGG ACGCGATGCTCATTTCCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	180	0.0056	-372	c.637 others(19): Show c.637+23665_637+24036del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF4_chr20_61969798_62070881	61971085	ATCACACA others(365): Show ATCACACACCGGGCAGACGTGCGTTCAACACTGGGTAGACGTGCATTCAG CTTCATCACTGCATCACACACCGGGTAGACGTGCATTCAACACTGGGTAG ACGTGCATTCAGCTTCATCACTGCATCACACACCGGGTAGACGTGCATTC AACACTGGGTAGACGTGCATTCAGCTTCATCACTGCGTCACACACCGGGC AGACGTGCATTCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGCAT CACACACCGGGCAGACGTGCATTCAACACTGGGTAGACGGGCATTCAGCT TCATCACTGCGTCACACACCGGGCAGACGTGCATTCAACACTGGGTAGAC GTGCATTCAGCTTCATCACTGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp1 others(5): Show HG01167.hp1 HG01169.hp1 HG01192.hp1 HG02056.hp2 HG02896.hp1 HG03654.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0025 a0003c0007 others(1): Show a0001c0001 a0001c0025 a0003c0007 a0010c0019	a0001c0001t0001 a0001c0025t0001 a0003c0007t0001 others(1): Show a0001c0001t0001 a0001c0025t0001 a0003c0007t0001 a0010c0019t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0100 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0100 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0025t0001g0202 a0003c0007t0001g0015 a0010c0019t0001g0010	8	314	0.0255	-372	c.47 others(11): Show c.4711_*5082del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding					3712		chr20	TogoVar
TEX13D_chrX_124327660_124341863	124334356	CAGAGAGG others(365): Show CAGAGAGGGCCCAGGGGATGGCCACCCTGGTGTTTAGCAGGAGCTGCAAA CCAGAAGAAGGTCCAGAGAGGCCCCAGGACACTCCCCTGGGGGACAGCAG AAGTCATATCAAGGAAGAAGGCCCAGAGGGGCCCCAGAGGATTGTCCTCC AGGGAGACAACAGGAGCTATAGCCAGGAAGGAAGCCCAGAGAGGGCCCAG GGGATGGCCACCCTGGTGTTTAGCAGGAGCTGCAAACCAGAAGAAGGTCC AGAGAGGCCCCAGGACACTCCCCTGGGGGACAGCAGAAGTCATATCAAGG AAGAAGGCCCAGAGGGGCCCCAGAGGATTGTCCTCCAGGGAGACAACAGA AGCTATAGCCAGGAAGGAAGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00099.hp2 HG00140.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0000 a0009c0012t0002g0000	2	333	0.0060	-372	c.151 others(9): Show c.1517_1888del	p.Asp others(13): Show p.Asp506_Gln629del	TEX13D	ENSG00000282419.3	transcript	ENST00000632372.3	protein_coding	1/1	1775/4204	1517/2145	506/714		INFO_REALIGN_3_PRIME	chrX	TogoVar
TEX13D_chrX_124327660_124341863	124334434	ACACTCCC others(365): Show ACACTCCCCTGGGGGACAGCAGAAGTCATATCAAGGAAGAAGGCCCAGAG GGGCCCCAGAGGATTGTCCTCCAGGGAGACAACAGGAGCTATAGCCAGGA AGGAAGCCCAGAGAGGGCCCAGGGGATGGCCACCCTGGTGTTTAGCAGGA GCTGCAAACCAGAAGAAGGTCCAGAGAGGCCCCAGGACACTCCCCTGGGG GACAGCAGAAGTCATATCAAGGAAGAAGGCCCAGAGGGGCCCCAGAGGAT TGTCCTCCAGGGAGACAACAGAAGCTATAGCCAGGAAGGAAGCCGAGAGA GGGCCCAGGGGATGGCCACCCTGGTGTTTAGCAGGAGCTGCAAACCAGAA GAAGGTCCAGAGAGGCCCCAGGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02280.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0006 a0013c0020t0006	a0013c0020t0006g0000 a0013c0020t0006g0000	1	333	0.0030	-372	c.153 others(9): Show c.1539_1910del	p.Ser others(13): Show p.Ser514_Arg637del	TEX13D	ENSG00000282419.3	transcript	ENST00000632372.3	protein_coding	1/1	1797/4204	1539/2145	513/714		INFO_REALIGN_3_PRIME	chrX	TogoVar
TSNARE1_chr8_142207080_142408182	142390435	AGCTGTAC others(365): Show AGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGCGGGGGA CTCCGTAACAGACGCTGTACACTGCTGGGGACTCTGTAACAGACGCTGTA CACTGCTGGGGACTCTGTAACAGACGCTGTACACTGCAGGGGACTCTATA GCAGACGCTGTACACTGCTGGGGACTCCATAGCAGACGCTGTACACTGCG GGGGACTCTGTAACAGAAGCTGTACACTGCGGGGGACTCCGTAACAGACG CTGTACACTGCGGGGGACTCCGTAACAGAAGCTGTACACTGCGGGGGACT CCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACA CTGCGGGGGACTCCGTAACAGAC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	238	0.0042	-372	c.-40 others(19): Show c.-40+12297_-40+12668del		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
UBTD1_chr10_97493924_97576206	97528353	ACCCCCCC others(365): Show ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACGG GGCGGCTCGCCTGGCGGGGGGCTCACCCCCCCACCTCCCTCCCGAACGGG GCGGCTGGCCGGGCGGGGGGCTGAACCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18955.hp1 NA19054.hp2 others(4): Show NA18946.hp2 NA18955.hp1 NA19054.hp2 NA19056.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0006g0049 a0001c0001t0006g0098	7	314	0.0223	-372	c.70+ others(17): Show c.70+29103_70+29474del		UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANXA2_chr15_60342151_60402986	60366846	TGGGGGGG others(364): Show TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGGGGAGGGGGGATCAGCCCCCCGCCTGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCCGTCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02055.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0324 a0001c0001t0001g0325	2	334	0.0060	-371	c.149 others(17): Show c.149-2694_149-2324del		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12						chr15	TogoVar
ARHGAP8_chr22_44747575_44867784	44856726	GACAGAGA others(364): Show GACAGAGACAAAGGCAAACAGTGACTCTTCCTGGGAGGCTGAAGATCACC GAGGACTCCTCGAGATCAGATGCGCTGAAGTCAAAACCAAAGAACCCATT CTTCCGAATGTGGCTCTGCTGGTCCAAATTCAGAAAGGAAGAAAACAAAG AGACTTTGACCACCCTCACACAGTCGCGCTGCAGACAGAAATCTGGGAGG CTGACTTGAGTAAGAATTCTTTTTTTTTTTTTGAGACGGAGTTTTGCTCT TGTCGCAAAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGACTCTGTTGCCTCAGCCTCCCAAGTAGCTGG GATTACAGGTGCCCACCACCAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp2 HG02257.hp2 NA18522.hp2	a0012 a0012	a0012c0038 a0012c0056 a0012c0038 a0012c0056	a0012c0038t0005 a0012c0056t0005 a0012c0038t0005 a0012c0056t0005	a0012c0038t0005g0318 a0012c0056t0005g0323 a0012c0038t0005g0318 a0012c0056t0005g0323	2	390	0.0051	-371	c.878 others(17): Show c.878-3002_878-2632del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
BPHL_chr6_3113711_3158578	3145740	CGAGTGCT others(364): Show CGAGTGCTGGTTTGGGTCGAGTGCTGGTTCAGGTTGGAGTGCTGGTTCCG GCTAGAGTGCTGGTTTGGGTCGAGTGCTGGTTTGGGTCGAGTGCTGGTTC AGGTTGGAGTGCTGGTTCCGGCTGGAGTGCTGGTTTGGGTCGGAGTGCTG GTTTGGGTCGAGTGCTGGTTTGGGTTGGAGTGCTGGTTCGGGTTGGAGTG CTGGTTCCAGCTGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGGTCGA GTGCTGGTTCGGGGTGGAGTGCTGGTTCGGGTCCGAGTGCTGGTTCGGGT GGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCGGGGTGGAGTGCTGATGTG GGTTGGAGTGCTGGTTCCGGTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01975.hp1 others(28): Show HG01081.hp1 HG01099.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02145.hp2 HG02257.hp1 HG02300.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03704.hp1 HG06807.hp2 NA18946.hp1 NA18952.hp1 NA18965.hp1 NA18980.hp2 NA18998.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 a0002c0003t0005 a0005c0009t0001	a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0002t0003g0009 others(21): Show a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0002t0003g0009 a0001c0002t0003g0247 a0001c0002t0003g0249 a0001c0002t0003g0251 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0002c0003t0001g0005 a0002c0003t0001g0035 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0005g0035 a0005c0009t0001g0235	31	350	0.0886	-371	c.788 others(17): Show c.788+5233_788+5603del		BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
BRF1_chr14_105204286_105306001	105276945	GGAGCTGG others(364): Show GGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCAC TAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCT CACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGC CCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGG GGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGA GGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTG AGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAG CCGAGAGGCGGCCCTCACTAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	72	0.0139	-371	c.266 others(17): Show c.266-4422_266-4052del		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105277084	CGAGAGGC others(364): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCC ACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAG GCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAG GAGGCCACAGTGAGAAGGAGCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	72	0.0139	-371	c.266 others(17): Show c.266-4561_266-4191del		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17						chr14	TogoVar
CCDC187_chr9_136244973_136309094	136251894	CGCGGAGC others(364): Show CGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCCGCCCA CCCAGTCCACCCCGGGAAGGTCCAGGCGACCGTCCCGCGGAGCCGGCCGC CCACCTGGTCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCTGG GAAGGTCCAGGCAACCATCCCGCACAGCCGGCCGCCCACCCCGTCCACCA GGGGAAGGTCCAGGCGACCGTCCCGCAGAGCCGGCGCCCACCCTGTCCAC CAGGGGAAGAGCCGGCCGCCCACCCGGTCCACCCCGGGAAGAGCCGGCCG CCCACCCGGCCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCCG GGAAGGTCCAGGCGACCGTCCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01175.hp1 NA20905.hp1 HG00735.hp1 HG01175.hp1 NA20905.hp1	a0001 a0029 a0001 a0029	a0001c0012 a0029c0029 a0029c0085 a0001c0012 a0029c0029 a0029c0085	a0001c0012t0044 a0029c0029t0110 a0029c0085t0044 a0001c0012t0044 a0029c0029t0110 a0029c0085t0044	a0001c0012t0044g0186 a0029c0029t0110g0028 a0029c0085t0044g0052 a0001c0012t0044g0186 a0029c0029t0110g0028 a0029c0085t0044g0052	3	400	0.0075	-371	c.13 others(11): Show c.1329_*1699del		CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26				1329		chr9	TogoVar
CFAP77_chr9_132405211_132578319	132524781	TGGGACTA others(364): Show TGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACAGTGTTAGCTACGATGGTCTCGATCTCCTGAC CTCATGATCCTCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTG AGCCACTGTACCCGGCCGACACACCCCATATTTATTTTTACCCTATATTT TTTGGCCCTATACTCTTCGATTACCTCTTTATGTGATAGTAATTTTTTTT TTTTTTTGAGATGGAGCCTCATTGTGACGCCCAGGTTGGAGTGCAATGGC ACAATCTCAGCTCACTGCAACCTCCGCTTCCCGAGTTCAAGCGGTTCTCC TGCGTCAGCCTCCTGAGTAGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00609.hp1 others(23): Show HG00280.hp2 HG00423.hp1 HG00609.hp1 HG01934.hp1 HG02074.hp1 HG02083.hp2 HG02602.hp1 HG02735.hp2 HG03098.hp2 HG03486.hp2 NA18941.hp1 NA18969.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19083.hp2 NA19087.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0010 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 a0003c0010t0002 a0009c0012t0002	a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0080 others(23): Show a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0199 a0001c0001t0001g0241 a0001c0001t0001g0304 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0002g0217 a0001c0001t0002g0289 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0309 a0001c0001t0002g0320 a0001c0001t0004g0075 a0001c0002t0001g0275 a0001c0005t0001g0318 a0001c0005t0002g0166 a0003c0010t0002g0195 a0009c0012t0002g0187	26	322	0.0808	-371	c.525 others(19): Show c.525-12807_525-12437del		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CMTM8_chr3_32233680_32375321	32341675	AAGACCAG others(364): Show AAGACCAGCCTGGCCAACATGGCGAAACCCCCTCTCTAATAAAAATTTAA AAATCAGCCAGGTGTGGTGTCATGTGCTTTTGATCCCAGCTACTCTGGAG GCTGAAGCAGAAGAATCACTTGAACCCAGGGGTCGGAGGTTGCAGTGAGC CAAGGTTGCCGCTGCACTCTAGCCTGGGCGACAGAGCAAGACTCTGTCTC AAAAAAAATAAATAAACTTGGACTAAGTTTTTTAACTCACTGTGCCTTGG TTTTCCTATCTATAAAATCATCATGATAAAACCTATTTTAAGGCTGGGCA TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGG ATCACCTGAGGTCAGGAGTTTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	344	0.0029	-371	c.148 others(19): Show c.148-15676_148-15306del		CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CSMD1_chr8_2930361_4999914	3795681	TCATGTAT others(364): Show TCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTA TCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCAT GTACAGATATAGATATATACCTATCATGTACAGATATAGATATATATCTA TCATGTACAGATATAGATATATATCTATCATGTACAGATATAGATATATA TCTATCATGTACAGATATATATATCATGTACAGATATAGATATCTATCAT GTACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTAC AGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAGAT ATAGATATATATCTATCATAGA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0113 a0009c0113	a0009c0113t0011 a0009c0113t0011	a0009c0113t0011g0043 a0009c0113t0011g0043	1	126	0.0079	-371	c.819 others(19): Show c.819-42010_819-41640del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
DCC_chr18_52335197_53540899	53086173	CTCTTCTT others(364): Show CTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTC TTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCT TCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTT CCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCT TCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTT CCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCT TCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG01496.hp1 others(2): Show HG00738.hp1 HG01433.hp1 HG01496.hp1 HG02809.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0007 a0003c0006 a0001c0003 a0001c0007 a0003c0006	a0001c0003t0016 a0001c0007t0003 a0003c0006t0009 others(1): Show a0001c0003t0016 a0001c0007t0003 a0003c0006t0009 a0003c0006t0010	a0001c0003t0016g0007 a0001c0007t0003g0025 a0001c0007t0003g0026 others(2): Show a0001c0003t0016g0007 a0001c0007t0003g0025 a0001c0007t0003g0026 a0003c0006t0009g0046 a0003c0006t0010g0001	5	114	0.0439	-371	c.126 others(21): Show c.1261+20009_1261+20379del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132148948	CGCCGCCT others(364): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCAC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-371	c.-50 others(11): Show c.-5023_-4653del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4630		chr12	TogoVar
DENND1A_chr9_123374658_123935126	123405297	TTCCTGCC others(364): Show TTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGG CACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGG AAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAG GACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCT TTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTGCACTT CCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCA CACACTCCACCTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAA GGGAGCAGGCACACACTCCACC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	162	0.0062	-371	c.154 others(19): Show c.1543-2178_1543-1808del		DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23						chr9	TogoVar
DLGAP2_chr8_732628_1713476	1710822	ACAGATGT others(364): Show ACAGATGTAAAAGAAGCACCACTGGTTACCTAGCTATAATGCACACCTAA CACCCTACTTCGTCCAACTGCAGCAGAACACACATGCTTCCCAAGCTACA CTCTGGGCTATGAAACACACTTTAAAAATGTAAAAGAAGCACCACTGGTT ACCTAGCTATAATGAACACCTAACACCCTACTTCATCCAACTACAGCAGA ACACACATGCTTCCCAAGCTACACTCTGGGCTATGAAACACACTTTAAAA ATGTAAAAGAAGCACCACTGGTTACCTAGCTATAATGCACACCTAACACC CTACTTCGTCCAACTGCAGCAGAACACACAGGCTTCCCAAGCTACACTCT GGGCTATGAAACACACCTTAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA20300.hp2 HG02258.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0006 a0001c0002t0006 a0001c0003t0006	a0001c0002t0006g0011 a0001c0003t0006g0033 a0001c0002t0006g0011 a0001c0003t0006g0033	2	40	0.0500	-371	c.94 others(11): Show c.9417_*9787del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding					2347		chr8	TogoVar
DLGAP2_chr8_732628_1713476	1711109	CACACCTA others(364): Show CACACCTAACACCCTACTTCGTCCAACTGCAGCAGAACACACAGGCTTCC CAAGCTACACTCTGGGCTATGAAACACACCTTAACAGATGTAAAAGAAGC ACCACTGGTTACCTAGCTATAATGCACACCTAACACCCTACTTCGTCCAA CTGCAGCAGAACACACATGCTTCCCAAGCTACACTCTGGGCTATGAAACA CACTTTAAAAATGTAAAAGAAGCACCACTGGTTACCTAGCTATAATGAAC ACCTAACACCCTACTTCATCCAACTACAGCAGAACACACATGCTTCCCAA GCTACACTCTGGGCTATGAAACACACGCTAACAGATGTAAAAGAAGCACC ACTGGTTACCTAGCTGTAATGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-371	c.97 others(12): Show c.9704_*10074del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding					2634		chr8	TogoVar
EXD3_chr9_137301896_137428162	137330043	GCTACACG others(364): Show GCTACACGGGACTACACAGGAGCTACACAGGAACTACACAGGAGCTACAC AGGGCTCCACAGGAGCTACACAGGAGCTACACAGGAGCTACACAGGAACT ACACCGGAGCTACACAGGACTACACCGGAGCTACACGGGACTACACAGGA CTACACAGGACTACACAGGAGCTACACAGGAACTACACAGGACTACACAG GAGCTACACAGGGCTCCACAGGAGCTACACAGGAACTACACAGGAACTAC ACAGGAGCTACACAGGAACTACACCGGAGCTACACGGGACTACACAGGAC TACACAGGACTACACAGGAGCTACACAGGAGCTACACAGGACTACACAGG AGCTACACAGGGCTCCACAGGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	82	0.0122	-371	c.199 others(19): Show c.1999-6271_1999-5901del		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21						chr9	TogoVar
HEATR6_chr17_60036008_60083921	60042430	GCGTCCTG others(364): Show GCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGC GTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCT GTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTC AGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCGCGT CCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGCTGT GAGGCACCGTCAGCATCCTCGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02055.hp2 HG02896.hp1 HG02897.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0190 a0001c0001t0014g0191 a0001c0001t0014g0192 others(2): Show a0001c0001t0014g0190 a0001c0001t0014g0191 a0001c0001t0014g0192 a0001c0001t0014g0194 a0001c0001t0014g0195	5	250	0.0200	-371	c.76 others(10): Show c.762_*1132del		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				762		chr17	TogoVar
HSPBAP1_chr3_122734999_122798831	122780045	AGCCGGGC others(364): Show AGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGCTGACCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCACC TCCCTCCTGGACGGGGCGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01169.hp1 others(8): Show HG00741.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01361.hp2 HG01934.hp2 HG02148.hp1 HG02615.hp2 HG03209.hp1 HG06807.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0009 a0005c0005 a0001c0009 a0005c0005	a0001c0009t0002 a0005c0005t0002 a0001c0009t0002 a0005c0005t0002	a0001c0009t0002g0149 a0005c0005t0002g0138 a0005c0005t0002g0139 others(8): Show a0001c0009t0002g0149 a0005c0005t0002g0138 a0005c0005t0002g0139 a0005c0005t0002g0140 a0005c0005t0002g0141 a0005c0005t0002g0142 a0005c0005t0002g0143 a0005c0005t0002g0144 a0005c0005t0002g0145 a0005c0005t0002g0146 a0005c0005t0002g0147	11	350	0.0314	-371	c.65- others(15): Show c.65-2510_65-2140del		HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	1/7						chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132160607	GGTCTCCC others(364): Show GGTCTCCCTGTGTGATGCTGGGGGGGGCCTCTTCCTGTGTGATGCTGGTG GGGGTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCT GGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATG CTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCCTGTGTGA TGCTGGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTAT GTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCAGGCGGTGGCCTCTTC CTGTGTGATGCTAGGGGGTCTCTTCCTGTGTGATGCTGGGTGGGCCTCTC CCTGTGTGATGCTGGGTGGGCC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18999.hp2 HG04228.hp2 NA18999.hp2	a0004 a0004	a0004c0007 a0004c0045 a0004c0007 a0004c0045	a0004c0007t0001 a0004c0045t0001 a0004c0007t0001 a0004c0045t0001	a0004c0007t0001g0108 a0004c0045t0001g0090 a0004c0007t0001g0108 a0004c0045t0001g0090	2	158	0.0127	-371	c.222 others(19): Show c.2221-2601_2221-2231del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23						chr10	TogoVar
MACROD2_chr20_13990516_16058197	15731370	TCTGATGC others(364): Show TCTGATGCCCTTGGGGGTTTGATTGTGGTATAAGGTGAGTTCAGTCAACT GGGTTGATTTCTGGAAGATTTTAAGGGGCCAAGGCTCAGCTCAGCATTCC TGGTCTGAGTGCTTTAACTCTGGGGGGCTGGTACCAGGTCCCCACACTTG TTCTCTGGCACCTTGAGGTTAGAAACCAGCTGCACTAGAAAGGCCAACGT GTTTCCAGTCCACTGGCTACAACATTCCTGTGGGAGGTACTGACCAAAGC ACTTCACTGGGGCAGTGGCAGTGGGATCCATGCTCACTTACACATGCTAG GAGCCATGGCATTGCAGAGAGGTGCACATGCGTCGCCTGGGGCAGGATAC TGGCAGAAACGAGTTTGCAGCA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0013 a0002c0002t0007g0013	1	24	0.0417	-371	c.646 others(21): Show c.646-131374_646-131004del		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17						chr20	TogoVar
PCGF3_chr4_700832_775089	758648	CTTCTCCT others(364): Show CTTCTCCTTCCGGACTCCAGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCC CGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCG CGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCC GCGCGGCCCCTCTCCCGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01346.hp2 others(14): Show HG00099.hp1 HG01175.hp2 HG01346.hp2 HG02071.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG03831.hp1 HG04115.hp2 NA18943.hp1 NA18944.hp2 NA18960.hp1 NA18968.hp1 NA18986.hp1 NA19067.hp2 NA19074.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0033 a0001c0001t0065 others(1): Show a0001c0001t0008 a0001c0001t0033 a0001c0001t0065 a0001c0001t0066	a0001c0001t0008g0171 a0001c0001t0008g0246 a0001c0001t0008g0252 others(14): Show a0001c0001t0008g0171 a0001c0001t0008g0246 a0001c0001t0008g0252 a0001c0001t0008g0270 a0001c0001t0008g0271 a0001c0001t0008g0273 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0281 a0001c0001t0008g0338 a0001c0001t0008g0339 a0001c0001t0008g0340 a0001c0001t0008g0344 a0001c0001t0033g0067 a0001c0001t0065g0107 a0001c0001t0066g0091	17	366	0.0465	-371	c.463 others(17): Show c.463-2613_463-2243del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	758920	TTCCGGAC others(364): Show TTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTC TCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTG TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG TTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCT CCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCC TCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGC CCCTCTCCCGAGCTCTTCTCGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02976.hp1 others(2): Show HG02109.hp1 HG02559.hp1 HG02976.hp1 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0008 a0001c0001t0012g0016 a0001c0001t0012g0260 others(2): Show a0001c0001t0012g0008 a0001c0001t0012g0016 a0001c0001t0012g0260 a0001c0001t0012g0290 a0001c0001t0012g0337	5	366	0.0137	-371	c.463 others(17): Show c.463-2315_463-1945del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759390	GTTCTCCT others(364): Show GTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCG CGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCTGGGTCTTTCTCCCC GCGCGGCCCCTCTCCCGAGTTC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0339 a0001c0001t0008g0339	1	366	0.0027	-371	c.463 others(17): Show c.463-1836_463-1466del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
THAP12_chr11_76344956_76386132	76373147	TCCAGCCT others(364): Show TCCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATATAAAAA TTAGCCAGGCATGGTGGTATGTACCTGCAGTCCCAGCTACTTGGGAGGAT AAGGCAGGAGAATTACTTGAGCGCAGGAGGCAGAGGTTGCAATGACTGGA GATCGTGTCATTGCACTTTAGCCTGGGTGACAGTGAGACACTGTCTCAAA AAAAAAAAAAAAAGGAAAAAGAAGTACTATTATTACAACTCACCCCATTG TTTGGAAGATTAAATGAGTTGATATGAAAGTACTTCAGGCTGGGCGTGGT GTCTCACATCTGCAATCCTAAGACTTTGGGAGGCTGAACAAGGGGGGAAT GCTTCAGCTCAGGAGTCCAAGA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	382	0.0026	-371	c.89+ others(15): Show c.89+7230_90-7176del		THAP12	ENSG00000137492.9	transcript	ENST00000260045.8	protein_coding	1/4						chr11	TogoVar
THOP1_chr19_2780503_2820807	2817994	TCAGAGCA others(364): Show TCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATG ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACC AAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCA GGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGG TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACC AAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGC AGGTGACAAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	370	0.0027	-371	c.47 others(11): Show c.4719_*5089del		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding					2188		chr19	TogoVar
TMEM18_chr2_658877_682406	671353	CCCTCCTG others(364): Show CCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAG GCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGA GAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGA GGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCG GGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCAT CCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTG CATCCGGGAGGAGAGGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19043.hp1 HG03098.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0005 a0001c0001t0008 a0001c0002t0005	a0001c0001t0008g0134 a0001c0002t0005g0052 a0001c0001t0008g0134 a0001c0002t0005g0052	2	442	0.0045	-371	c.233 others(17): Show c.233+1084_233+1454del		TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4						chr2	TogoVar
ZNF554_chr19_2814868_2841735	2817994	TCAGAGCA others(364): Show TCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATG ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACC AAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCA GGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGG TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACC AAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGC AGGTGACAAGGGTGACTAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0208 a0001c0006t0008g0208	1	410	0.0024	-371	c.-20 others(11): Show c.-2077_-1707del		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding					1873		chr19	TogoVar
ANO2_chr12_5557655_5950259	5928554	TATTAGTC others(363): Show TATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTT CCTTACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTC CTTCCTTACTAGTCTATCTTCTTTCCTTACTCGTCTACCTTCTTTCCTTA TTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTGTCTTCTTTCC TTACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCT TCCTTACTAGTCTATCTTCTTTCCTTACTCGTCTACCTTCTTTCCTTATT AGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTT ACTCGTCTACCTTATTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	162	0.0062	-370	c.23- others(15): Show c.23-6120_23-5751del		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24						chr12	TogoVar
ATP11A_chr13_112685038_112892168	112803942	CCCCTCCT others(363): Show CCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCC CCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCT TCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCT CTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCC TCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTG CCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCCTCCTTTTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19002.hp1 NA18966.hp1 NA19002.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0010 a0003c0008t0001g0170 a0003c0008t0001g0010 a0003c0008t0001g0170	2	254	0.0079	-370	c.163 others(16): Show c.163-1006_163-637del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79245971	CTGCGGAG others(363): Show CTGCGGAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGCCCTACTGA CTGAGGAGGGCACCGCCCTACTGACTGTGCGGAGGGCACCACCCTACTGA CTGAGGAGGGCACCACCCTGACTGTGTGGAGGGCACCACCCTACTGACTG CGGAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGCCCTACTGACTG AGGAGGGCACCGCCCTACTGACTGTGCGGAGGGCACCACCCTACTGACTG AGGAGGGCACCACCCTGACTGTGTGGAGGGCACCACCCTACTGACTGCGG AGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGCCCTACTGACTGAGG AGGGCACCGCCCTACTGACTG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02630.hp2 others(1): Show HG01952.hp2 HG02055.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 others(1): Show a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0003g0098	4	298	0.0134	-370	c.110 others(19): Show c.1108-7387_1108-7018del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
C7orf50_chr7_992006_1143247	1127701	AATCTCGG others(363): Show AATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATC TCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGG CTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18962.hp1 NA18972.hp1 others(2): Show NA18944.hp2 NA18962.hp1 NA18972.hp1 NA18986.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0181 a0001c0001t0004g0190 a0001c0001t0004g0191 others(2): Show a0001c0001t0004g0181 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0198 a0001c0001t0027g0193	5	326	0.0153	-370	c.-1- others(13): Show c.-1-685_-1-316del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar

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Search Results (Total: 10000 hits)