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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STIL_chr1_47245139_47319147	47290596	GGGAGGCT others(651): Show GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAG TGAGCCGAGATCGCGCCACAGCACTCCAGCCCGGGCAACAGAGCAAGACT CCGTCTCAAAAAAAAAAAAAAAGAAAAGATACACAATCTAAGAGAAAAAT GGCTAAAGACATGACTAGGCAGTTCCTGGAAGATGAGGTTATAAATCATT GGAAAAGTTTATTTTTCATCTATCAGGTTAGCAGAGGTCAAAAGTTTAAC AACAGCCCTCCACTCACCTCTCTGAGCTCATCTCCAGCTACTCTCCCCTT CCTTCACTCCTCTCTAGCTACAGTGGCCTCTTTGCTGCTCCTTGAAGATG TAACGTGTTGTTTCACCCAGAGCCCTTACACTTAACACATCCTTTGCCTA GGACAGTGCCCCAGACAGCCACAAGGCTTACTTCCTCACCTTAAGTCGGC CTCCCTGACCACCTATTTAAATTGCAACTCTTGGCCGGGTGCAGTGGCTC ACGCCTGTAATCGCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGA GGTCAGGAGTTCGAGATCAGCCTGACCAACATGGAGAAACCCTGTCTCTA CTGAAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCC AGCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0063 a0004c0005t0002g0063	1	392	0.0026	-658	c.873 others(17): Show c.873-1669_873-1012del	STIL	ENSG00000123473.17	transcript	ENST00000371877.8	protein_coding	8/16			chr1	TogoVar
BSPH1_chr19_47963046_47997170	47965988	GGATCACT others(650): Show GGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAATCCCCATCT TTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCATGTGCCTATAGTC CTAGCTACTTGGGAGGCTGAGGCAGAACAATCGCTTGAACCCAGGAGGCG GAGGTTGCAGTGAGCCGAGATCACGCCACAGCACTCTAGCCTGGGCTACA GAATGAGACTCTGTCAAAAAACAAAAACAAAAAACAAAACAAAATAAACA AAAAAACTTAAGGAAGCTCACAAAGCTCATAGGTGTTTAGAAAATAAACG TCCTCTGCCACGTTAAAAAAAAAAAAAAAAGGTATACTGGCAGCTGGAGT AGGAGACAACCTGCAGGGGAAGTACCTGAGCATACTGTTCTCTTCTTGGG ATGTACGAATGGGGTCGATCAAGGGGACTCGAGCTGGGGTACACACTGAG GTCACCAGGGGAGCTTTATTTAGAAGGTGTGATGCCTGGGCGCCACCCTA GGACTTTCTGAATGAATTGATATGGGCAGCATACTGGCCATGGAGACTTT TTAAAGTTCTACCGTTGAATGTAAACTAGATCAAAGTTCAGAAGCACTGG GGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGA GGCGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	444	0.0023	-657	c.15 others(11): Show c.1567_*2223del	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding		2057		chr19	TogoVar
DACT2_chr6_168301904_168324777	168316238	CCAGCATC others(650): Show CCAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGC TGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGC AAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACAC GTCTGTGGCTGTCGTGTGCTGAGCTGAGGGCACGCAGAAGCTGCGATTGT GTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATCA CGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAA ACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp2 HG03654.hp1 others(6): Show HG00438.hp2 HG02129.hp2 HG03654.hp1 HG03831.hp1 NA18944.hp2 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0003 a0001c0001 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0011t0001 a0002c0003t0006 others(1): Show a0001c0001t0001 a0001c0011t0001 a0002c0003t0006 a0002c0003t0009	a0001c0001t0001g0053 a0001c0001t0001g0231 a0001c0001t0001g0232 others(5): Show a0001c0001t0001g0053 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0011t0001g0323 a0002c0003t0006g0324 a0002c0003t0009g0296	9	476	0.0189	-657	c.246 others(17): Show c.246+2493_246+3149del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
ERICH1_chr8_659200_736224	675376	GTGAGGAC others(650): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCG GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGC GGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0366 a0012c0017t0002g0366	1	378	0.0027	-657	c.305 others(17): Show c.305-1986_305-1330del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675485	CGGCGAGG others(650): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG CCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0337 a0001c0002t0002g0337	1	378	0.0027	-657	c.305 others(17): Show c.305-2095_305-1439del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675515	TGAGGACA others(650): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTC GGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGG CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCC CCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0208 a0001c0001t0001g0209	2	378	0.0053	-657	c.305 others(17): Show c.305-2125_305-1469del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
MPPED1_chr22_43407014_43512848	43496233	TGGAGGTG others(650): Show TGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTG GTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGGAGATGGTGGTGATGGA GGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGG TGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGAG GTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGA GATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGG TGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGATGGTGGTGGTG GTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGA GATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGAA GTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGT GGTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTG GTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02809.hp1 others(1): Show HG02258.hp1 HG02486.hp2 HG02809.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0003t0011 a0001c0001t0002 a0001c0002t0002 a0001c0003t0011	a0001c0001t0002g0003 a0001c0002t0002g0091 a0001c0003t0011g0197 others(1): Show a0001c0001t0002g0003 a0001c0002t0002g0091 a0001c0003t0011g0197 a0001c0003t0011g0238	4	250	0.0160	-657	c.633 others(17): Show c.633-1999_633-1343del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MVB12B_chr9_126321829_126512040	126484675	ACCTTCCA others(650): Show ACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATG AGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTG TGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTA CCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCGTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACT TCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGT CAGGGTAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG03195.hp1 others(4): Show HG01243.hp1 HG01884.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0021 a0001c0001t0010 a0001c0002t0021	a0001c0001t0010g0123 a0001c0001t0010g0294 a0001c0001t0010g0296 others(4): Show a0001c0001t0010g0123 a0001c0001t0010g0294 a0001c0001t0010g0296 a0001c0001t0010g0297 a0001c0001t0010g0298 a0001c0002t0021g0162 a0001c0002t0021g0163	7	318	0.0220	-657	c.873 others(16): Show c.873+645_873+1301del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACAP3_chr1_1287391_1312930	1288923	CCCCGTGT others(649): Show CCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0099 a0002c0006t0005g0099	1	295	0.0034	-656	c.39 others(11): Show c.3985_*4640del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3467		chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144531353	AAGGGCAC others(649): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAG GGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGA AGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG02965.hp2 others(2): Show HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0073 others(2): Show a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0073 a0001c0004t0006g0074 a0001c0004t0006g0075	5	246	0.0203	-656	c.298 others(17): Show c.2980+296_2981-483del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531353	AAGGGCAC others(649): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAG GGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGA AGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02922.hp2 HG02965.hp1 others(2): Show HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0010 a0001c0003t0007 a0001c0003t0010	a0001c0003t0007g0017 a0001c0003t0010g0023 a0001c0003t0007g0017 a0001c0003t0010g0023	5	398	0.0126	-656	c.-30 others(11): Show c.-3093_-2438del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2243		chr8	TogoVar
GALNT9_chr12_132191372_132334589	132223362	CNNNNNNN others(649): Show CNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNN	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0159 a0001c0007t0001g0159	1	183	0.0055	-656	c.107 others(21): Show c.1078-20328_1078-19673del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304873	ACACACCC others(649): Show ACACACCCTCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGC ACACCCTCACCCAGACACGCCCTCACCCAGACACGCCCTCACCCGGGCAC ACCCTCACCCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCACAC CCTCACCCAGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCC TCACCTGGGCACACCCTCACCCGGGCACAGCCTCACCCAGACACGCCCTC ACCCGGGCACAGCCTCGCCCGGGCACACCCTCGCCTGGGCACAGCCTCGC CCGGGCACACGCTCACCCAGACACACCCTTGCCCGGGCACACCCTCGCCC GGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGG GCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCCAGAC ACGCCCTCACCCAGACACGCCCTCACCCGGGCACACCCTCACCCGGGCAC ACCCTCACCCGGGCACATCCTCACCGGGGCACACCCTCACCCGGGCACAC CCTCACCCGGGCACAGAATCGCCCAGACACAGCCTGACCTGGGCACACCC TCACCCGGGCACACCCTCACCGGGGCACACCCTCACCCGGGCACAGCCTC ACCCGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02723.hp1 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0006t0001g0078 a0001c0006t0001g0142	2	183	0.0109	-656	c.239 others(19): Show c.239-19099_239-18444del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
INPP4B_chr4_142018160_142851301	142074773	GTTCAATG others(649): Show GTTCAATGTGCCACACATTACAACACTTAAACGTAAGCAAAATCACTTGA CAAGTGTGATGAATGAATAAGCACTACTCTTATCCACTTAGATAATTCTA ACATAGATTTTCCTAACTCCTGGCAACTTACCTAAATTGTATGCATCCTT AAGACACAGTTCAGATTCTACCTCCTCCAGGATACCTCCTGGCCACAGTG ATTCTTTTTATCCTCTGAGCCACTTAATAATGAACACTTTCTATGCTCTG GACTCATTTATTTGATTCTGTTCTTGTGGGAATTAGCAGTTTCCCCATAT AGGATGCTTAGTGTTATTCTTAGTGCATAGTAAGTCCTCATTGACTATTA GTGGCTATTATAATTTCAAATGTGTTTCTCCATTTGTATAGCATGGTACT CTGCCATAGTAGATATACAAAAGATGTTCACTTTTGACTATGAAAATGAC GACCACATATTTCTATTAATGACCTGTTTTCCCAACTCACCTCCAGAGGT GGGGCTCCTGACACATTAATTACAGGATATCCTAACTTGCCAGTGAAAGC TGTGGGAATTCAGGACTTAGACATTCTCTAGTTCCACAAACTGAGTGCTG AGTGCTGCTCTCTGGGGGCCCCGGATATGCACTAACCCCGACTCTAAGCT AAGTTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0002 a0001c0002t0004g0003	2	90	0.0222	-656	c.264 others(19): Show c.2642+6602_2642+7257del	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	25/25			chr4	TogoVar
LPP_chr3_188149157_188895671	188784412	CATATATA others(649): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATTCCATCATATATATATA TTCCATCATATATATATATTCCATCATATATATATATTCCATCATATATA TATTCCATCATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATA TATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCA TATATATATATTTCCATCATATATATATTCCATCATATATATATTCCATC ATATATATATATTCCATCATATATATATATTCCATCATATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATTCCATCATCATATATATATTCCATCATATATATATATT CCATCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00673.hp2 others(24): Show HG00438.hp1 HG00639.hp2 HG00673.hp2 HG01175.hp1 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01978.hp1 HG02074.hp1 HG02074.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18522.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004 a0005c0016 a0006c0013	a0001c0001t0001 a0001c0001t0017 a0001c0001t0025 others(21): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0057 a0001c0002t0001 a0001c0002t0011 a0001c0002t0016 a0001c0002t0019 a0001c0002t0024 a0001c0002t0047 a0001c0002t0058 a0001c0005t0030 a0001c0005t0042 a0001c0006t0034 a0001c0006t0064 a0002c0003t0006 a0002c0003t0052 a0002c0003t0059 a0002c0004t0039 a0002c0004t0067 a0002c0004t0068 a0005c0016t0043 a0006c0013t0003	a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0017g0064 others(24): Show a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0017g0064 a0001c0001t0025g0068 a0001c0001t0026g0069 a0001c0001t0057g0006 a0001c0002t0001g0029 a0001c0002t0001g0055 a0001c0002t0001g0076 a0001c0002t0011g0038 a0001c0002t0016g0028 a0001c0002t0019g0041 a0001c0002t0024g0036 a0001c0002t0047g0033 a0001c0002t0058g0013 a0001c0005t0030g0047 a0001c0005t0042g0037 a0001c0006t0034g0039 a0001c0006t0064g0007 a0002c0003t0006g0034 a0002c0003t0052g0014 a0002c0003t0059g0011 a0002c0004t0039g0053 a0002c0004t0067g0008 a0002c0004t0068g0020 a0005c0016t0043g0058 a0006c0013t0003g0046	27	76	0.3553	-656	c.141 others(21): Show c.1410+24141_1410+24796del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC24_chr8_144517388_144532033	144531353	AAGGGCAC others(649): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAG GGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGA AGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02922.hp1 HG02965.hp1 others(2): Show HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0009	5	398	0.0126	-656	c.-51 others(11): Show c.-5109_-4454del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4321		chr8	TogoVar
NKD2_chr5_1003802_1043943	1023330	CGTCTCAG others(649): Show CGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGC CCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCC CTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTC CCACCCGCTGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCT GTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTC CCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCAC CCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGG GCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAG CCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTC CCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTT CCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGC TGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0078 a0004c0007t0006g0078	1	319	0.0031	-656	c.142 others(17): Show c.142-8818_142-8163del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023382	ATTGTCCC others(649): Show ATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTG TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTC TTCCCACCCTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCC TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCC TGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCC CACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTG TGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCC CAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0079 a0004c0007t0006g0079	1	319	0.0031	-656	c.142 others(17): Show c.142-8748_142-8093del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSMF_chr9_137442570_137464334	137450731	TCCCCCCC others(649): Show TCCCCCCCTCGCCTCTTCCTCTTAATTCCCCCCAATGCCTCTTCCCCTTG ATCTCCCCCACCACACGCTCTTCTCCTTGATCTCCCCCCAATGCCTCTTC CCCTTGACCTGCCCGCCACGCCTCTTCCTTTTGATCTCCCCCCCACACCT CTTCCCCTTGATCTCCCCCCCACGCCTCTTCCCCTTGATCTCCCCCTCCA CACGCCTCTTCCCCTTGATCTTCCCCTGCCCCTCGTCTCTTCCCCTTGAT CTCCCCTGCCACGTCTCTTCCCCTTGATCTCCCCCACCACGTCTCTTCCC CTTGATCTCCCCTCCACGTCTCTTCCCCTTGATCTCCCCCTCCACACGCC TCTTCCCCTTGATCTTCCCCTGCCACACGTCTCTTCCCCTTGATCTCCCG CGCCACACGCCTCTTCCCCTTGTTCTGCCCTCCACGCCTCTTCCCCTTGG TCTTCCCCACCACACGCCTCTTCCCCTTGGTCTCCCCCGCCACGTCTCTT CCCCTTGGTCTTCCTTGGCCACACGCCTCTTCCCCTTGATCTCCCCACCA TGCCTCTTCCCCTTGATCTCCCCCTCCACACGCCTCTTCCCCTTGATCTT CCCCTGCCCCTCGTCTCTTCCCCTTGATCTCCCCCGCCACGTCTCTTCCC CTTGATC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02083.hp1 NA18952.hp1 others(1): Show HG02056.hp2 HG02083.hp1 NA18952.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0167 a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0167	4	414	0.0097	-656	c.123 others(17): Show c.1236+978_1237-477del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NWD2_chr4_37239743_37454463	37330830	GTACAATA others(649): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTT GAGTATTTCTATACAATACCACCGGAATCATCACCCTACTTGAGTATTTC TATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATA CCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAA TCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCC TACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGT ATTTCTA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02273.hp2 HG01346.hp2 HG02273.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0022 a0001c0001 a0006c0022	a0001c0001t0005 a0006c0022t0010 a0001c0001t0005 a0006c0022t0010	a0001c0001t0005g0273 a0006c0022t0010g0281 a0001c0001t0005g0273 a0006c0022t0010g0281	2	296	0.0068	-656	c.240 others(17): Show c.240+4888_240+5543del	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAFAH1B1_chr17_2588654_2690615	2630281	GCAGTTCT others(649): Show GCAGTTCTTGTAATGGTGGCTTGGTAATGGTGAATTCTCTCAGCATTTGT TTGTCTGAAAATGACTGTAGCTTTCCTTCATACACGATGCTTGGTTTCAC TGGATATAAAATTCTTGGCTGATAATTGTTTTGTTTGAGGAGGCCGAAGA TAAGGCCCTAATCCCTTCTAGCTTGTAGGGTTTTTGCTGAGAAATCTGCT GTTAAACTGATAGGTTTTCCTTTATAGGTTACCTGGTGCTTCTGTCTCAC AGCTCTTAAGATTCTTTCCTTTGTCTTAACTTTGGATAACCTGATGACAG TGTGCCTAGTGAAGATCTTTTTGCAGTGACTTTCCCAGGTGTTCTTTGTG CTTCTTGTATTTGAATGTCTAGGTCTCTAGCAGGGCCGGGGGAGTTTCCT CAGTTATTCTCCCAAATATGTTTTCCACGCTTTTAGAGTTCTCTTCTTCC TCAGGAACACTGATTATTCTTAGGTTTGGTCGTTTAAGATAATCCCAGAC GTCTTGGAAGCTTTGTTCATATTTTCTTATTCTTTTTTCTTTGTCTTTGT TGGGTTGGGTTACTGTCTTCAAGCTGGTAATTGAAAATAGACATGATTTA AATATCTAGCCATAAAAGATTGTTAAAAATAGTACATCCACATGATCAAA TATCATT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	280	0.0036	-656	c.-19 others(19): Show c.-190-7813_-190-7158del	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288923	CCCCGTGT others(649): Show CCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	290	0.0035	-656	c.166 others(17): Show c.1662+895_1663-684del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHOX_chrX_625791_656584	647276	AGCCTCCC others(649): Show AGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCC TCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTT CTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATT ACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAG ACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAG GCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCC GAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGG TATTTTTAGTACAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAG GCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAG GGTTTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp2 NA19054.hp1 NA19064.hp2 NA18969.hp2 NA19054.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0044 a0001c0001t0004 a0001c0001t0044	a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0044g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0044g0020	3	220	0.0136	-656	c.27 others(11): Show c.2722_*3377del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	2722	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647522	GGCCTCCC others(649): Show GGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCC TCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTT CTGGTATTTTTAGTACAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATT ACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAG ACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAG GCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCC GAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGG TATTTTTAGTAGAGACAGGGTTTCGGCCTCCTGAGTAGCTGGGATTACAG GCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAG GGTTTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00733.hp2 others(46): Show HG00323.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp2 HG01361.hp2 HG01981.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03516.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG06807.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18969.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA18991.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA19030.hp1 NA19057.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0002 a0001c0001 a0002c0005 a0000c0002 a0001c0001 a0002c0005	a0000c0002t0002 a0000c0002t0041 a0001c0001t0002 others(42): Show a0000c0002t0002 a0000c0002t0041 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0052 a0001c0001t0094 a0001c0001t0104 a0001c0001t0105 a0001c0001t0125 a0001c0001t0138 a0001c0001t0157 a0001c0001t0165 a0001c0001t0166 a0001c0001t0168 a0001c0001t0172 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0184 a0001c0001t0185 a0001c0001t0197 a0002c0005t0186	a0000c0002t0002g0115 a0000c0002t0041g0029 a0001c0001t0002g0142 others(46): Show a0000c0002t0002g0115 a0000c0002t0041g0029 a0001c0001t0002g0142 a0001c0001t0002g0166 a0001c0001t0009g0060 a0001c0001t0009g0099 a0001c0001t0010g0008 a0001c0001t0010g0093 a0001c0001t0014g0051 a0001c0001t0014g0052 a0001c0001t0020g0072 a0001c0001t0023g0047 a0001c0001t0024g0160 a0001c0001t0025g0204 a0001c0001t0026g0154 a0001c0001t0028g0025 a0001c0001t0029g0091 a0001c0001t0030g0167 a0001c0001t0031g0094 a0001c0001t0032g0137 a0001c0001t0033g0006 a0001c0001t0034g0038 a0001c0001t0035g0179 a0001c0001t0036g0138 a0001c0001t0037g0011 a0001c0001t0038g0144 a0001c0001t0039g0203 a0001c0001t0040g0112 a0001c0001t0042g0145 a0001c0001t0043g0146 a0001c0001t0045g0198 a0001c0001t0052g0192 a0001c0001t0094g0004 a0001c0001t0104g0079 a0001c0001t0105g0129 a0001c0001t0125g0008 a0001c0001t0138g0033 a0001c0001t0157g0089 a0001c0001t0165g0019 a0001c0001t0166g0077 a0001c0001t0168g0174 a0001c0001t0172g0064 a0001c0001t0175g0168 a0001c0001t0176g0184 a0001c0001t0177g0113 a0001c0001t0184g0125 a0001c0001t0185g0124 a0001c0001t0197g0143 a0002c0005t0186g0092	49	220	0.2227	-656	c.29 others(11): Show c.2955_*3610del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	2955	INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC52A3_chr20_755080_773500	766030	GGGCTCAA others(649): Show GGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAG GTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTT TCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCT GGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAAC CGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGC AGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACAC GGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTG TCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGT AACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTG ATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACT GAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGA CTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTA TCTCCCT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0186 a0001c0005t0001g0186	1	466	0.0022	-656	c.-51 others(15): Show c.-51-861_-51-206del	SLC52A3	ENSG00000101276.18	transcript	ENST00000645534.1	protein_coding	1/4			chr20	TogoVar
BRAP_chr12_111637146_111690956	111671487	TTGCAGTG others(648): Show TTGCAGTGAGCCAAGAGAGTGCCACTGCACTCCAGCCTGGGCAACAGAGT GACACTCTGTCTCCAAAACAAAACAAAACGGAATCAAGAGGCCAGGCACA GTCGCTCACACTTGTAATCCCAGCACTTTGGAAGGCCATGGTGGGAAAAA TGCTTGAGCTGAGGAGTTCAAGAACAGTCTGGGTAACAGAGAGACTTTTT TTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTAGAG TGCAATGGCAAGATCACGGCTCACTATAGCCTGGACCTCCCCCGACTCAG GTGATCTTCCTGCTTCAGGGTCCTGAGTAGCTGGGACCAAAGGTGCTCAG CATCACACCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCGTCA TGTTGCCCAGCCTGGTCTCGAATTCCTACACTCAAGCAATCCATCACCTC GGCCTCCCAACTCCTGTGCTCAAGCGATCCGTCACCTCAGCCTCCCAAAG AGCTGGGATTATAGGCATGAACCACCGCGCCCAGCCAGGGTGATCTTGTC TCTAAAACAAATTTAAAAAATTAGCCAGGCGTGGTGGTACACACTTGTAG TCCCAGCTACCCAGGAGGCTGAGGCTAGCAGATGCTTGAACTGGAGAGAC AGAGGC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	364	0.0028	-655	c.747 others(16): Show c.747+519_747+1173del	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
DOCK1_chr10_126900428_127457516	127058062	AGATTCTA others(648): Show AGATTCTAGAGACTTTAACAGTGATCTTTTGTTACAGAAAGATGCTTCAA AAGGATCACGGCAAAATGCTATGTTCTAAACATGTTGGTTGGCACAAGAG AAACTGTTTTACATTTTTACTCATGAGAGGTTCTGGTAGAATTTAAAAAA TATTAAAGATTCATTAATCATGCCTTATAGATTTTGAAGCTGTGTTATTG GGGGCATACAGATTTATAATCATGATATCTTTCCTGTTGGTCTATTCCTT AATCAATATGAAAAGTTTCTCTTAATCTTTTGGCTAGTATTTGCATGGAA TACCTATTTCCATCCTTTTATTTTCATGCTTTCTGTGTCTTTATACTTAA GGTGTGCCTCTTATAATACAACATATAGTTGTATTTTTCTTTCATCCAGT CTGACAAGCTTCTTAATTGAGCATTTCATCCATTTATATATAGTGTAATT AAGTAATGTTAGATTTATATATTATTTTTGCATTAATTTTCCCTTCCCCA TCTGTATTATTTTCCCCTTTTCCTCCTTTTTTGCCTTCTTTTATACCAGT TACACTTTTTTTAAGCATCTCATTTTCTGATTTTTAAACATATTATTTGA ATATTCTTTTACTATTATTTTTAACAATTATTCTAGAGATGGTAACATCC ATGTTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 NA18522.hp1 HG02717.hp1 HG03486.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0002 a0001c0004t0010 a0003c0003t0004 a0001c0004t0002 a0001c0004t0010 a0003c0003t0004	a0001c0004t0002g0120 a0001c0004t0010g0052 a0003c0003t0004g0108 a0001c0004t0002g0120 a0001c0004t0010g0052 a0003c0003t0004g0108	3	136	0.0221	-655	c.233 others(19): Show c.2337-3603_2337-2949del	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	22/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
MVB12B_chr9_126321829_126512040	126484766	CTTCCACT others(648): Show CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCGTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCT TCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGT CAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCT TCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCGT CCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTC AGGGTA	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0186 a0001c0003t0013g0186	1	318	0.0031	-655	c.873 others(16): Show c.873+735_873+1389del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9			chr9	TogoVar
NOC4L_chr12_132139457_132157468	132149705	ACTCACAC others(648): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0138	1	294	0.0034	-655	c.901 others(15): Show c.901+845_902-587del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP2R3B_chrX_328933_391907	376601	CCAGTGGG others(648): Show CCAGTGGGGCCGCCATGGGGCTGTCTATACACTACTGTATGCAGGGACGG GCCATCCACACCCAGTGGGGCCACCATGGGGCTGTCTATACACTACTGTG TACAGGGACGGGCCGTCCACACCCAGTGGGGCCACCATGGGGCTGTCTAT ACACTACTGTGTACAGGGACGGGCCGTCCACAGTGGGGCCGCCATGGGGC TGTCTATACACTACTGTATACAGGGACGGGCCGTCCACAGTGGGGCCGCC ATGGGGCTGTCTATACACTACTGTATGCAGGGACGGGCCGTCCACACCCA GTGGGGCCGCCATGGGGCTGTCTATACACTACTGTATGCAGGGACGGGCC GTCCACACCCAGTGGGGCCGCCATGGGGCTGTCTATACACTACTGTATGC AGGGACGGGCCGTCCACACCCAGTGGGGCCGCCATGGGGCTGTCTATACA CTACTGTGTACAGGGACGGGCCGTCCACACCCAGTGGGGCCACCATGGGG CTGTCTATACACTACTGTATGCAGGGACGGGCCGTCCACAGTGGGGCCGC CATGGGGCTGTCTATACACTACTGTGTACAGGGACGGGCCGTCCACACCC AGTGGGGCCACCATGGGGCTGTCTATACACTACTGTATGCAGGGACGGGC CGTCCA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02630.hp2 HG02965.hp1	a0003 a0004 a0003 a0004	a0003c0013 a0004c0012 a0003c0013 a0004c0012	a0003c0013t0006 a0004c0012t0010 a0003c0013t0006 a0004c0012t0010	a0003c0013t0006g0025 a0004c0012t0010g0024 a0003c0013t0006g0025 a0004c0012t0010g0024	2	25	0.0800	-655	c.324 others(17): Show c.324+9112_324+9766del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
SSTR5_chr16_1067747_1086454	1069385	CCGCCCCC others(648): Show CCGCCCCCCAGCTGGGCCTATCAGAGTGCTGCTGCAGGCCTGAGGCCTCA CCTGGGTGGTACAACCTGCTGGCGGAGGAAAGAGCTGCCGTAGCCCAGGT GGGACTGGGGGGTCCCCATGATCCCCCAGGAGGGTGGGGGTCTTGTGTGG GAGTCTCTCACCAGCTCCAGACGCGGTTTCCAGGGCATATTCACTCAAAT TCCTCATCCTCACCTTCCCCCAAGTGCAGGCCCGGCAGTGGCTTCTACCT GGGGCTGGGAGGGGGCAGGTCTTTGGTGCTCATGGGACGTCACTCCACAC TGGGCACTGGTCCAGGTGCCAGGGGACAGAGTGGGCACCCCAGCGGGTTG TGTGGGTGAGGGCCTCAGCACTGCCCCCGCCTCCCATCCTGAAGGCTGGA GTAGCCTGGGAAGCTGCATTTTAATGAGCACCCCATTTTAACAGAGTGCC CACTGAAGCTCGAGACCACGGCCAGGAGGGTCAGCCAGGGCCCCAGGGGC GGGACTCAGGCCCCTGCAGAAGGCCCCATCCTTGAAACCCTTTGAGGGTC TCCCTGTTTCTGTCTGGACCCCGGGCCACGCTCTGCCCTTGGCAGCTGCA GCCTGCATCTCACTCCAGACGCCTTGGTGGGAAGCCCCTGCTGCCGGGTC CCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	-655	c.-34 others(11): Show c.-3464_-2810del	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding		3361		chr16	TogoVar
SVIL_chr10_29452338_29639971	29560699	ATCATTGA others(648): Show ATCATTGATACATGTGTTAAATCAGAGAAACAATGAAATTGCTGGTCTTT CCAAATCTGCCTATTTTTTTCATAAAAAGCAAAGATATGTGAAATAAGAC TGTAGAGAATTTAGGTGAAATTCAGGGGACATGGGGCACTGGCACTTTTT TTTTTTTTTAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGG CATGATCTTGGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTTGCCCAGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCACGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAG ATGCGAGCCACCATGCCCAGCCGGGGCACTGGCACTTTTAAAGCATGTTT TAAAGATTTAGGGACCATGTTAATTTAGAAACACCAATCTGGTGAACACA TAAAATCGTCATCTTTGATTTGTAAAAATTATTTTTTATAATCATTTATG ACAAATTTTTTAATACAACTGGCTAATAAGCTTAGGTGTTCTAAAAGTTT ATTACAGATGAAGTTACCATTTGTTGAACCTTAAGGAACCCAGCATTTCA TCCTGT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04115.hp1 HG03710.hp2 HG04115.hp1	a0018 a0042 a0018 a0042	a0018c0095 a0042c0110 a0018c0095 a0042c0110	a0018c0095t0001 a0042c0110t0005 a0018c0095t0001 a0042c0110t0005	a0018c0095t0001g0104 a0042c0110t0005g0116 a0018c0095t0001g0104 a0042c0110t0005g0116	2	290	0.0069	-655	c.-51 others(17): Show c.-51+1847_-51+2501del	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	3/37			chr10	TogoVar
ZFYVE28_chr4_2264597_2423645	2396035	GGAGCTGA others(648): Show GGAGCTGATGGGACAAGCTATCCTGCAGAGGGGACCCAAGGCGGGGGTGT CTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGGGTGT CTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGTGGGGGTG TCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGGGTG TCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGGGTG TCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGTGGGGGT GTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAGGCGGGGT GTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGCGGGGT GTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGGACACAAGGTGGGGG TGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAGGCGGGG TGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGGG TGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGCGGGG GTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGG GTGTCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02109.hp2 others(5): Show HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02258.hp1 HG02922.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0015	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0006 a0005c0014 a0015c0024	a0001c0001t0003 a0001c0002t0003 a0001c0005t0002 others(4): Show a0001c0001t0003 a0001c0002t0003 a0001c0005t0002 a0002c0003t0001 a0002c0006t0014 a0005c0014t0002 a0015c0024t0003	a0001c0001t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 others(5): Show a0001c0001t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0005t0002g0224 a0002c0003t0001g0259 a0002c0006t0014g0079 a0005c0014t0002g0080 a0015c0024t0003g0081	8	290	0.0276	-655	c.39+ others(17): Show c.39+21595_39+22249del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2396070	CCAAGGCG others(648): Show CCAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGC CACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGA CACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG CCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG CCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG ACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GACACAAGGCGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGG GACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGACACAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAG GGGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAG GGGCCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01515.hp2 HG02486.hp2 others(2): Show HG01358.hp2 HG01515.hp2 HG02486.hp2 HG02602.hp1 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0030 a0001c0004 a0001c0005 a0001c0030	a0001c0004t0002 a0001c0005t0002 a0001c0030t0002 a0001c0004t0002 a0001c0005t0002 a0001c0030t0002	a0001c0004t0002g0038 a0001c0005t0002g0039 a0001c0005t0002g0042 others(2): Show a0001c0004t0002g0038 a0001c0005t0002g0039 a0001c0005t0002g0042 a0001c0005t0002g0044 a0001c0030t0002g0041	5	290	0.0172	-655	c.39+ others(17): Show c.39+21560_39+22214del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
C7orf50_chr7_992006_1143247	1128623	CATCTCGG others(647): Show CATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGG CTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATC CCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGC TGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTG GCGCG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18612.hp1 NA18944.hp2 others(12): Show HG02132.hp1 NA18612.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18984.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19055.hp1 NA19056.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 others(12): Show a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0028g0201	15	326	0.0460	-654	c.-1- others(15): Show c.-1-1891_-1-1238del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128669	AATCTCGG others(647): Show AATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCT GGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGGGC TGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGC AGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp1 NA21309.hp2 HG01099.hp1 HG02622.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237	3	326	0.0092	-654	c.-1- others(15): Show c.-1-1937_-1-1284del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
ETDA_chrX_135247061_135258583	135250041	GCTCAGCC others(647): Show GCTCAGCCTTCCAAAGTGCTGGGATTATAGGCGAGAGCCACTGTGCCTCA CCTAGTATGCAAAGTTTTTACGCATTTAACTTCTATCAATCAGCCTCTCC TGACCTATTTCCTAGGTGATTGCCTTGGATTTCTAGGATGTCAGTTCCTT AAGAGAAAGATAGTTTTCCACTTTCTTTGTTAACAAAATACACCGATAAG TTATCTTCCCTCTCCAAATTGTTTAGGACAATGAATATGGCCTCAGGGTC TTTACACGGTTCTATGTGGCCAGGAGAAAACCTGCGGGACTGAGCGTTCC TTCCCTGCCACTCAAGAAAGGGAGTGTGTGACCTGGGTCGCTTTAAAAAA AAAATTTTTTTAAACATGCTATGTATAGAAAGGAAATGTAGCTCCAGTTC AATGAAAATTTTCACAAACGGTGAGTATTGACCTATTTAAGGAACAGACA GTGCCAAAAAGATTCTGACACTGACTTATGTATTTAGACTCTGGCCCTGC AGAGCTACATCTCATCCTTGCATCTACAGGGCTGCTTATGGCAATCACCA TGACTCTCTGCCTTAGGGGCTTTTTGCCTTACAGTTGGAACATGCTGGAT ATGACCCAAGGCCAACTGGAGGTCTTGAACTCCTGGGCTCAAGCGATCCA CTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01515.hp1 HG01517.hp1 others(1): Show HG01070.hp1 HG01515.hp1 HG01517.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	4	335	0.0119	-654	c.-23 others(11): Show c.-2344_-1691del	ETDA	ENSG00000238210.4	transcript	ENST00000427686.3	protein_coding		2019		chrX	TogoVar
MCF2L_chr13_112964214_113104742	113011933	GGTGTGGA others(647): Show GGTGTGGATGGTGGACAGGCGGTGTGGACGGTGGACAGGCTGGGTGGATG GTGGACACTGCGATGAGGACGGTGGACACTGCGATGAGGACAGTGGACAG GTGGTGTGGACGGTGGACACTGCAGTGTGAATGGTGGACAGGTGGTGTGG ACAGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGGTGGAC AGGCAGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCAGTGT GGATGGTGGACAGGCGGTGTGGACGGTGGACAGGCTGGGTGGATGGTGGA CACTGCGATGAGGACGGTGGACACTGCGATGAGGACAGTGGACAGGTGGT GTAGACAGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGGT GGACAGGCAGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCA GTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCAGTGTGGACG GTGGACACTGCAGTGCGGATGGTGGACAGGTGGTGTGGATGGTGGACAGG CGGTGTGGACGGTGGACAGGCTGGGTGGATGGTGGACACTGCAATGAGGA CGGTGGACACTGCGATGAGGACAGTGGACAGGTGGTGTGGACGGTGGACA CTGCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01515.hp1 others(4): Show HG01256.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG02293.hp2 HG03492.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0015	a0001c0001t0001 a0001c0002t0005 a0001c0004t0005 others(2): Show a0001c0001t0001 a0001c0002t0005 a0001c0004t0005 a0001c0005t0029 a0001c0015t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0002t0005g0060 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0002t0005g0060 a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0005t0029g0091 a0001c0015t0001g0013	7	116	0.0603	-654	c.80- others(15): Show c.80-2822_80-2169del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
OTUD7A_chr15_31470398_31875673	31510734	TACATATG others(647): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATGTATATC TATATGTAACATATGTATATCTATATGTAACATACATGTATATCTATATG TAACATACATGTATATCTATATGTAACATACATATATATGTATATCTATA TGTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATA TGTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATA TGTAACACACATATGTATATCTATATGTAACACACATACATATGTATATC TATATGTAACACACATACATATGTATATCTATATGTAACACACATACATA TGTATATCTATATGTAACACACATATATATGTATATCTATATGTAACACA CATATATATGTATATCTATATGTAACACACATATATATGTATATCTATAT GTAAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	244	0.0041	-654	c.894 others(17): Show c.894-7570_894-6917del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PRKCA_chr17_66297613_66815743	66798891	TGGTGGTG others(647): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTA GTGAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	178	0.0056	-654	c.185 others(19): Show c.1855-4959_1855-4306del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
UTP20_chr12_101275105_101391618	101362525	GAAACCCC others(647): Show GAAACCCCGTCTCTAAGAAAAATACAAAAACTAGCCAGGCATGGTGATGC GCACCTGTAATCCCAGCTACCCAGGAGGCTGAAGCAGGAAAATCCCCTGA ACCTGGGCTGTGGAGGTTGCAGTGAGCGCAGACCGCGCCACTGCACTTCA GCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAA ATTGGATAGTATACTAATTTGGAGGCTACCATTGTGAAGATAATAAATTT GCCACATAACCTTTTGTTCATTTGTTTTAAAATGTAGACACTAACATTTT GAATCTCAATTTAAATATTTACGTTAGGCCAGGCACAATGGCTCACACCT GTAATCCCAGCACTTTGGGATGCTGAAGTGGGTGGATGACTTGAGACCAG GAGTTTGAGACCAGCCTGTGCTACATGGTGAAACCCCATCTCTGCTAAAA ATACAAAACTTAGTCAGGTGGGGTGGCACATGCCTGTGATCCCAGCTACT TAGGAGGCTGAGACACGAGAATTGCTTGAACCCAGGAGCTGGAGGTTGCA ATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGCCAGAGTGGGAC TCTGTATCAAAAAATAAGGTAATTAATTAGACTAATAATTAATTAGATTG CAAAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp2 others(144): Show HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18953.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(11): Show a0001 a0003 a0004 a0005 a0010 a0013 a0016 a0017 a0020 a0021 a0026 a0029 a0031 a0032	a0001c0002 a0001c0004 a0001c0008 others(16): Show a0001c0002 a0001c0004 a0001c0008 a0001c0047 a0003c0006 a0003c0026 a0004c0009 a0004c0020 a0005c0018 a0010c0012 a0013c0021 a0016c0014 a0017c0025 a0020c0038 a0021c0048 a0026c0044 a0029c0043 a0031c0039 a0032c0050	a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 others(21): Show a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0008t0001 a0001c0008t0003 a0001c0047t0001 a0003c0006t0001 a0003c0006t0003 a0003c0026t0001 a0004c0009t0001 a0004c0020t0001 a0005c0018t0001 a0010c0012t0001 a0010c0012t0003 a0013c0021t0001 a0016c0014t0001 a0017c0025t0001 a0020c0038t0001 a0021c0048t0003 a0026c0044t0003 a0029c0043t0001 a0031c0039t0003 a0032c0050t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(142): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0178 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0264 a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0179 a0001c0002t0003g0185 a0001c0002t0003g0187 a0001c0002t0003g0189 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0221 a0001c0002t0003g0229 a0001c0002t0003g0246 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0248 a0001c0004t0001g0249 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0001g0254 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0262 a0001c0004t0001g0263 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0003g0027 a0001c0004t0003g0255 a0001c0008t0001g0012 a0001c0008t0001g0269 a0001c0008t0001g0271 a0001c0008t0003g0013 a0001c0008t0003g0014 a0001c0008t0003g0272 a0001c0047t0001g0237 a0003c0006t0001g0001 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0151 a0003c0006t0001g0154 a0003c0006t0001g0155 a0003c0006t0001g0156 a0003c0006t0001g0159 a0003c0006t0001g0160 a0003c0006t0001g0161 a0003c0006t0001g0162 a0003c0006t0001g0163 a0003c0006t0001g0164 a0003c0006t0003g0152 a0003c0006t0003g0153 a0003c0006t0003g0157 a0003c0026t0001g0158 a0004c0009t0001g0037 a0004c0009t0001g0038 a0004c0009t0001g0039 a0004c0009t0001g0278 a0004c0009t0001g0280 a0004c0020t0001g0277 a0004c0020t0001g0279 a0005c0018t0001g0105 a0005c0018t0001g0106 a0010c0012t0001g0214 a0010c0012t0001g0222 a0010c0012t0003g0204 a0013c0021t0001g0032 a0013c0021t0001g0033 a0016c0014t0001g0176 a0016c0014t0001g0177 a0017c0025t0001g0244 a0020c0038t0001g0240 a0021c0048t0003g0203 a0026c0044t0003g0192 a0029c0043t0001g0235 a0031c0039t0003g0015 a0032c0050t0001g0095	147	356	0.4129	-654	c.579 others(17): Show c.5790+467_5791-396del	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	44/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZFYVE28_chr4_2264597_2423645	2396077	GGGGGTGT others(647): Show GGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGG CGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGG TGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAG GCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAG GCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAG GTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAA GGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAA GGCGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGGACACAA GGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATA AGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACA AGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACA AGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCAC AAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCAC AAGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00738.hp1 others(49): Show HG00140.hp1 HG00597.hp2 HG00738.hp1 HG01069.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02074.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03669.hp2 HG03834.hp2 HG04184.hp1 HG04228.hp1 NA18950.hp2 NA18952.hp2 NA18963.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0017 a0020	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0002c0007 a0002c0017 a0003c0008 a0003c0010 a0003c0022 a0003c0037 a0004c0019 a0004c0020 a0006c0011 a0017c0036 a0020c0042	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0002 a0001c0005t0002 a0001c0005t0005 a0001c0005t0011 a0002c0003t0001 a0002c0003t0003 a0002c0003t0017 a0002c0007t0002 a0002c0007t0005 a0002c0017t0003 a0003c0008t0001 a0003c0010t0002 a0003c0022t0003 a0003c0037t0002 a0004c0019t0001 a0004c0020t0002 a0006c0011t0002 a0006c0011t0008 a0006c0011t0016 a0017c0036t0001 a0020c0042t0001	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0033 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0166 a0001c0001t0001g0229 a0001c0001t0003g0027 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0275 a0001c0001t0004g0045 a0001c0002t0001g0009 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0222 a0001c0002t0002g0010 a0001c0002t0003g0212 a0001c0004t0002g0002 a0001c0004t0002g0026 a0001c0004t0002g0228 a0001c0004t0002g0254 a0001c0005t0002g0232 a0001c0005t0005g0057 a0001c0005t0005g0249 a0001c0005t0011g0231 a0002c0003t0001g0046 a0002c0003t0001g0230 a0002c0003t0003g0031 a0002c0003t0003g0034 a0002c0003t0003g0036 a0002c0003t0003g0096 a0002c0003t0003g0143 a0002c0003t0017g0284 a0002c0007t0002g0122 a0002c0007t0005g0257 a0002c0017t0003g0250 a0003c0008t0001g0176 a0003c0008t0001g0236 a0003c0008t0001g0253 a0003c0008t0001g0255 a0003c0010t0002g0251 a0003c0022t0003g0123 a0003c0037t0002g0247 a0004c0019t0001g0252 a0004c0020t0002g0256 a0006c0011t0002g0245 a0006c0011t0008g0283 a0006c0011t0016g0282 a0017c0036t0001g0183 a0020c0042t0001g0049	52	290	0.1793	-654	c.39+ others(17): Show c.39+21554_39+22207del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2396121	ACAAGGCG others(647): Show ACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGAC ACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGC CACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGC CACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGA CACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG CCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG ACACAAGGCGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGG ACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GACACAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGACC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(82): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01891.hp2 HG01975.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18986.hp2 NA19000.hp2 NA19030.hp1 NA19043.hp1 NA19066.hp1 NA19070.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011 a0019	a0001c0001 a0001c0002 a0001c0004 others(19): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0001c0046 a0002c0003 a0002c0006 a0002c0007 a0002c0009 a0002c0012 a0002c0017 a0002c0018 a0002c0038 a0003c0008 a0003c0010 a0004c0020 a0005c0027 a0007c0016 a0007c0035 a0011c0028 a0019c0034	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0004t0002 a0001c0004t0008 a0001c0005t0002 a0001c0005t0007 a0001c0013t0006 a0001c0013t0019 a0001c0046t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0015 a0002c0006t0003 a0002c0006t0004 a0002c0007t0002 a0002c0009t0002 a0002c0012t0003 a0002c0017t0003 a0002c0018t0002 a0002c0038t0002 a0003c0008t0004 a0003c0010t0002 a0004c0020t0005 a0005c0027t0003 a0007c0016t0002 a0007c0035t0004 a0011c0028t0004 a0019c0034t0001	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0097 others(82): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0240 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0226 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0004g0124 a0001c0002t0001g0052 a0001c0002t0001g0153 a0001c0002t0001g0200 a0001c0002t0001g0217 a0001c0002t0001g0239 a0001c0002t0003g0132 a0001c0002t0004g0276 a0001c0004t0002g0025 a0001c0004t0002g0029 a0001c0004t0002g0103 a0001c0004t0002g0112 a0001c0004t0002g0145 a0001c0004t0002g0169 a0001c0004t0002g0170 a0001c0004t0002g0171 a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0227 a0001c0004t0002g0233 a0001c0004t0002g0248 a0001c0004t0008g0285 a0001c0005t0002g0022 a0001c0005t0002g0028 a0001c0005t0002g0129 a0001c0005t0002g0152 a0001c0005t0007g0067 a0001c0013t0006g0287 a0001c0013t0006g0288 a0001c0013t0019g0290 a0001c0046t0006g0289 a0002c0003t0001g0024 a0002c0003t0001g0115 a0002c0003t0001g0190 a0002c0003t0001g0211 a0002c0003t0001g0221 a0002c0003t0003g0098 a0002c0003t0003g0102 a0002c0003t0003g0144 a0002c0003t0015g0281 a0002c0006t0003g0162 a0002c0006t0003g0163 a0002c0006t0004g0267 a0002c0007t0002g0219 a0002c0009t0002g0201 a0002c0012t0003g0130 a0002c0017t0003g0182 a0002c0018t0002g0194 a0002c0018t0002g0202 a0002c0038t0002g0225 a0003c0008t0004g0016 a0003c0010t0002g0154 a0004c0020t0005g0159 a0005c0027t0003g0277 a0007c0016t0002g0266 a0007c0035t0004g0272 a0011c0028t0004g0278 a0019c0034t0001g0004	85	290	0.2931	-654	c.39+ others(17): Show c.39+21510_39+22163del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
C1R_chr12_7075219_7097445	7084000	NNNNNNNN others(646): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NGTA	N N	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19011.hp1 HG03831.hp1 NA19011.hp1	a0005 a0009 a0005 a0009	a0005c0018 a0009c0023 a0005c0018 a0009c0023	a0005c0018t0001 a0009c0023t0001 a0005c0018t0001 a0009c0023t0001	a0005c0018t0001g0185 a0009c0023t0001g0126 a0005c0018t0001g0185 a0009c0023t0001g0126	2	320	0.0063	-653	c.127 others(19): Show c.1273+1209_1273+1861del	C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10			chr12	TogoVar
CDH4_chr20_61247261_61945617	61943092	GACCACGA others(646): Show GACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCCTCTGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACC GACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02723.hp1 HG03130.hp1 others(1): Show HG01255.hp1 HG02723.hp1 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0013 a0001c0020 a0001c0006 a0001c0013 a0001c0020	a0001c0006t0006 a0001c0006t0029 a0001c0013t0006 others(1): Show a0001c0006t0006 a0001c0006t0029 a0001c0013t0006 a0001c0020t0006	a0001c0006t0006g0029 a0001c0006t0029g0035 a0001c0013t0006g0036 others(1): Show a0001c0006t0006g0029 a0001c0006t0029g0035 a0001c0013t0006g0036 a0001c0020t0006g0094	4	106	0.0377	-653	c.61 others(11): Show c.6150_*6802del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2476		chr20	TogoVar
CHCHD3_chr7_132779870_133087090	132984916	GCCCGGCC others(646): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGAA GGGAGGTGGGGGGGTTAGCCCCCCGTCCGGCCAGCCGCCCCATCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGTCCCT CTGCCCGGCCAGCCGCCCCGTCCGGAAGGGAGGTGGGGGGGTTAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGAGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCC CCCGGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCT	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	310	0.0032	-653	c.252 others(18): Show c.252-10283_252-9631del	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
EPHB1_chr3_134790260_135265467	134955060	TGACATCC others(646): Show TGACATCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTT TTTTTTTTTAATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTA ACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTC CCCCAACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTC ATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATA GTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTG TTGGACATTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGT GTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCA TCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAA GACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGAC TTGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00673.hp1 others(67): Show HG00323.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02109.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0011 a0001c0003t0020 a0001c0006t0001 a0001c0006t0012 a0001c0006t0022 a0001c0006t0026 a0001c0007t0003 a0001c0007t0007 a0001c0007t0009 a0001c0011t0023 a0001c0015t0008 a0001c0016t0001 a0002c0014t0002	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0051 others(67): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0126 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0091 a0001c0001t0002g0120 a0001c0001t0003g0053 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0006g0047 a0001c0001t0007g0027 a0001c0001t0009g0042 a0001c0001t0012g0076 a0001c0001t0014g0029 a0001c0001t0015g0109 a0001c0001t0017g0059 a0001c0001t0021g0058 a0001c0001t0024g0107 a0001c0003t0001g0016 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0062 a0001c0003t0001g0089 a0001c0003t0002g0008 a0001c0003t0002g0014 a0001c0003t0002g0017 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0088 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0054 a0001c0003t0004g0106 a0001c0003t0004g0113 a0001c0003t0004g0119 a0001c0003t0005g0099 a0001c0003t0006g0063 a0001c0003t0007g0044 a0001c0003t0011g0100 a0001c0003t0020g0124 a0001c0006t0001g0086 a0001c0006t0012g0085 a0001c0006t0022g0019 a0001c0006t0026g0117 a0001c0007t0003g0068 a0001c0007t0007g0043 a0001c0007t0009g0028 a0001c0011t0023g0115 a0001c0015t0008g0013 a0001c0016t0001g0071 a0002c0014t0002g0031	70	134	0.5224	-653	c.805 others(17): Show c.805+3023_805+3675del	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLT4_chr5_180596506_180654600	180617426	TCCAGAGC others(646): Show TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTAC TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTAC TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTAC TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTAT TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTAC TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTAC TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTAT TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTAC TCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTA TTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTA CTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCT ATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCT ACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCT ACTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01106.hp2 HG00140.hp1 HG00733.hp1 HG01106.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0024 a0001c0001 a0009c0024	a0001c0001t0001 a0009c0024t0001 a0001c0001t0001 a0009c0024t0001	a0001c0001t0001g0259 a0009c0024t0001g0004 a0001c0001t0001g0259 a0009c0024t0001g0004	3	388	0.0077	-653	c.300 others(17): Show c.3001+691_3002-433del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180617519	GTCCTACT others(646): Show GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCAC GTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCA CGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCA CGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCC ACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCC ACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCC ACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACC CACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACC CACA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0043 a0002c0003t0010g0043	1	388	0.0026	-653	c.300 others(17): Show c.3001+598_3002-526del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79921193	GGAACCGA others(646): Show GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAG ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAG GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACC GAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAA CCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGG TCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT GGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC AGGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0279 a0001c0001t0007g0279	1	352	0.0028	-653	c.392 others(17): Show c.392-2446_392-1794del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar

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Search Results (Total: 10000 hits)