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
CPS1_chr2_210551599_210684107	210586345	TTTAAAAT others(235): Show TTTAAAATTGGTCCCATTCATATGACTTCCCCTTGTTTTACATATTTCCC TGTGAAATGATTTAGTTTGAAACACAGCATGATAGAGGGTGATGATAGAT GATAGAATGTTAGAATTGAGAACTGCCTTGGTGGTTTAGTCTAGCATTTC CTAAACTGGAAAACAGTGGTGTGGAGCAATTCATCTTAAAAAATTCTGTG GTCAAGCAAGGTTGCAAAATGCTGCATAAGATATTCCTCTCTG	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0298 a0003c0003t0004g0298	1	340	0.0029	-242	c.622 others(17): Show c.622-1708_622-1467del		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	6/37					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYB5D2_chr17_4138197_4162697	4138890	CCCTTCTC others(235): Show CCCTTCTCCCTGGACCACACCTACCATGAGAAAAGGTGTGTTGTACTATA AAATGATAATGTTTCAGACTTTGGTCCATGGTCCAACTCCAAGAACTTCT TTATAACACCTCCTCAAGTAACTGAGGTCACAGGAATGTGAAAGCAAGAC AGCTGCGTGGACACCAATGGCAGCTAAGTTAGGAAGCCAAAGAAGAAACA TGTAACACTTGGAAACTCTCAGCATTATAATAAACCATGCGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01081.hp1 others(41): Show HG00140.hp2 HG00280.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0005t0005	a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0075 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0075 a0001c0001t0004g0004 a0001c0001t0005g0008 a0001c0001t0005g0017 a0001c0001t0005g0031 a0001c0001t0005g0035 a0001c0001t0005g0085 a0001c0001t0005g0089 a0001c0001t0007g0006 a0001c0001t0007g0088 a0001c0001t0007g0090 a0001c0001t0009g0041 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0104 a0001c0001t0012g0008 a0001c0001t0024g0008 a0001c0001t0025g0006 a0001c0005t0005g0029	44	370	0.1189	-242	c.-48 others(11): Show c.-4865_-4624del		CYB5D2	ENSG00000167740.10	transcript	ENST00000301391.8	protein_coding					4306		chr17	TogoVar
DDX51_chr12_132131594_132149319	132135696	CGCTCCTC others(235): Show CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA19070.hp1 NA18986.hp1 NA19070.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0022 a0005c0007t0011 a0005c0007t0022	a0005c0007t0011g0019 a0005c0007t0022g0085 a0005c0007t0011g0019 a0005c0007t0022g0085	2	334	0.0060	-242	c.33 others(11): Show c.3334_*3575del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					897		chr12	TogoVar
DPEP1_chr16_89608642_89643433	89619001	GCCCCCCC others(235): Show GCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	250	0.0040	-242	c.-10 others(19): Show c.-107+5283_-107+5524del		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
GTF2IRD2B_chr7_75087590_75154817	75154575	CTCAGCCT others(235): Show CTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAACATTGTGGCTGGC CTTAATTTGTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTCACCCAGGCT GAAGTACAGTGGCACGATCACAGCTTACTGCAGCCTCAAACTCCTGGGCT CAAGCGATCCTCCCACCCAGCCTGGGACTACAGGTGCACACCACCACACC TGTCTAATTTTTTAAAATGTTTGTCTAGACGGGTCTCACCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	170	0.0059	-242	c.52 others(11): Show c.5279_*5520del		GTF2IRD2B	ENSG00000174428.19	transcript	ENST00000472837.7	protein_coding					4759		chr7	TogoVar
LILRA1_chr19_54588632_54607381	54606305	ACAGCTTT others(235): Show ACAGCTTTCAGCCTTGCCCAGAGCCCTGGCCCTTCTCTGCCTGTGAGGAC CCAGGGCCCCTTTTCTGTTCTGCACAGAAATGGAAACTTCCTCCCTAATG ACCCCTAATGGCACCAGACACAGATGCCCTCTCTGTTTCGTGTGTATCCT TCTCCTTCTGATGAACTTTCATTTCTCATTTTCTGGACATGACTGTGATA ACCGGGGTGTTGATGAAATATTATGAGAAGCATCTCTCAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp2 NA18939.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0003 a0001c0001t0001g0014	2	453	0.0044	-242	c.54 others(11): Show c.5489_*5730del		LILRA1	ENSG00000104974.12	transcript	ENST00000251372.8	protein_coding					3925		chr19	TogoVar
LOC122513141_chr9_137212494_137224361	137218332	CCGCAACC others(235): Show CCGCAACCCTGGGCCCTGGGGCTCCCTGGAGCACCGCTACCAGCTGCGCT TCCTGGCAGGGCCCGTGGGCGGCCGGGGCTGCCTGCCCTTCCTGCCCTGT CCACCCTGCCTGGGTGCCCGGCTCTGGACCCTGCGGGAGCGGGGACCCTG TGCCCGCCGCCTGGCGCTGCTGAGCCTGCTGGCCCTTGAGCTTCTGGGGC TGCTGCTGGTCTTCACGCCGCTCCTGCTGCTGGGACTGCTCTT	C C	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG01243.hp2	a0000 a0000	a0000c0012 a0000c0012	a0000c0012t0002 a0000c0012t0002	a0000c0012t0002g0000 a0000c0012t0002g0000	1	390	0.0026	-242	c.339 others(7): Show c.339_580del	p.Asn others(5): Show p.Asn114fs	LOC122513141	ENSG00000284976.2	transcript	ENST00000645271.2	protein_coding	1/1	842/1868	339/606	113/201		INFO_REALIGN_3_PRIME	chr9	TogoVar
LRP8_chr1_53237364_53333070	53283699	ACTTACTT others(235): Show ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	296	0.0034	-242	c.368 others(17): Show c.368-3226_368-2985del		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
MAST4_chr5_66591393_67174593	66907105	GGTGGGGA others(235): Show GGTGGGGAAAATGGAATTTACTTGGTGAAAAGGAAAAATAACTCTCAGCA AAGCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGTCCTGCTAGGAGGTTTCCCACTTCACAGATAGAATCCCAGGTCACCA CACAGGAACAGAAGAGGCCAGGCTTCTCCCCATTGCAAAGGGTGCAAACT TCCCGAGGCTTTACCTCATCCTCCCAGGGTGCAGGTGGGCATT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02572.hp2 others(2): Show HG01891.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 NA19043.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0004c0007 a0013c0027 a0001c0002 a0004c0007 a0013c0027	a0001c0002t0001 a0001c0002t0016 a0001c0002t0019 others(2): Show a0001c0002t0001 a0001c0002t0016 a0001c0002t0019 a0004c0007t0004 a0013c0027t0009	a0001c0002t0001g0070 a0001c0002t0016g0071 a0001c0002t0019g0068 others(2): Show a0001c0002t0001g0070 a0001c0002t0016g0071 a0001c0002t0019g0068 a0004c0007t0004g0066 a0013c0027t0009g0031	5	108	0.0463	-242	c.674 others(17): Show c.674+7124_674+7365del		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28						chr5	TogoVar
NDOR1_chr9_137200700_137224361	137218332	CCGCAACC others(235): Show CCGCAACCCTGGGCCCTGGGGCTCCCTGGAGCACCGCTACCAGCTGCGCT TCCTGGCAGGGCCCGTGGGCGGCCGGGGCTGCCTGCCCTTCCTGCCCTGT CCACCCTGCCTGGGTGCCCGGCTCTGGACCCTGCGGGAGCGGGGACCCTG TGCCCGCCGCCTGGCGCTGCTGAGCCTGCTGGCCCTTGAGCTTCTGGGGC TGCTGCTGGTCTTCACGCCGCTCCTGCTGCTGGGACTGCTCTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0002 a0001c0003t0037g0002	1	386	0.0026	-242	c.19 others(11): Show c.1919_*2160del		NDOR1	ENSG00000188566.15	transcript	ENST00000684003.1	protein_coding	14/14				1919	INFO_REALIGN_3_PRIME	chr9	TogoVar
P2RY12_chr3_151331843_151389753	151389511	AGAACGAT others(235): Show AGAACGATGTCTGGAAAATTGCAAGTGAAATACCATCTTGGCCAAAGAGT GGTTCTGAAGCACTGTAGGGCTCTCTGGCGTAATTCTCCAGACCCAAGAT ATTGGAAAGGCCTTCTAAGATGAAATGATCATGAGTCTTAGCAACTGAAG GTGCTTTTTCAGTGATGAGTGTCGTTCAGTATTGGTATTCCTGACACACT TGTAGTCTTTTGAAATAGAATTCAGAAGAGATCCTTTTCCATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0153 a0002c0004t0005g0153	1	396	0.0025	-242	c.-52 others(11): Show c.-5241_-5000del		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding					4759		chr3	TogoVar
PCLO_chr7_82749012_83167884	83130123	TTATGTTT others(235): Show TTATGTTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTATTATTTGAG ACGAAGTCTCCCATTATTATTATTTGAGACGAAGTCTCTCTGTGTTGTCC ACGCTGGAGTGTAGTAGGGAAAACTTAGTTCACTGCAACCTCTGTCTCCC AGGTTTAAGCAATTCTCCTTCCTCAGCTTCCTGAGTAGCTAGGACTACAG GCATGAACCACCATGCCGGCTTTCTCATATTTCTAGTAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0020 a0020	a0020c0072 a0020c0072	a0020c0072t0002 a0020c0072t0002	a0020c0072t0002g0023 a0020c0072t0002g0023	1	188	0.0053	-242	c.330 others(19): Show c.3300+3885_3300+4126del		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PERM1_chr1_970198_987093	977598	CCCCCACC others(235): Show CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCC CGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGG AACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02155.hp2 HG03130.hp2 others(8): Show HG00673.hp2 HG02155.hp2 HG03130.hp2 HG03209.hp1 NA18954.hp1 NA18974.hp1 NA18980.hp1 NA19059.hp1 NA19079.hp2 NA19081.hp2 NA19240.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0004 a0004c0021 others(1): Show a0001c0001 a0004c0004 a0004c0021 a0008c0012	a0001c0001t0001 a0001c0001t0012 a0004c0004t0002 others(3): Show a0001c0001t0001 a0001c0001t0012 a0004c0004t0002 a0004c0021t0002 a0008c0012t0002 a0008c0012t0016	a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0012g0113 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0012g0113 a0004c0004t0002g0004 a0004c0021t0002g0084 a0008c0012t0002g0202 a0008c0012t0016g0201	11	408	0.0270	-242	c.214 others(18): Show c.2149+1041_2150-975del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PKD1_chr16_2083708_2140898	2127901	CCAGGGAG others(235): Show CCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGG GCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGG AGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGG TGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGAGGGAGGGAG AGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG02723.hp2 others(2): Show HG00642.hp2 HG01099.hp1 HG02723.hp2 HG03130.hp2 NA19043.hp2	a0001 a0003 a0051 others(2): Show a0001 a0003 a0051 a0063 a0064	a0001c0083 a0003c0076 a0051c0051 others(2): Show a0001c0083 a0003c0076 a0051c0051 a0063c0102 a0064c0104	a0001c0083t0001 a0003c0076t0001 a0051c0051t0002 others(2): Show a0001c0083t0001 a0003c0076t0001 a0051c0051t0002 a0063c0102t0001 a0064c0104t0020	a0001c0083t0001g0024 a0003c0076t0001g0025 a0051c0051t0002g0193 others(2): Show a0001c0083t0001g0024 a0003c0076t0001g0025 a0051c0051t0002g0193 a0063c0102t0001g0194 a0064c0104t0020g0198	5	216	0.0232	-242	c.215 others(17): Show c.215+7332_215+7573del		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45						chr16	TogoVar
PLEKHN1_chr1_961482_980865	977598	CCCCCACC others(235): Show CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCC CGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGG AACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG03130.hp2 HG03209.hp1 others(9): Show HG01943.hp1 HG03130.hp2 HG03209.hp1 NA18954.hp2 NA18980.hp1 NA19010.hp1 NA19056.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0010 a0001c0050 a0002c0006 others(3): Show a0001c0010 a0001c0050 a0002c0006 a0002c0008 a0002c0017 a0016c0052	a0001c0010t0021 a0001c0050t0021 a0002c0006t0006 others(3): Show a0001c0010t0021 a0001c0050t0021 a0002c0006t0006 a0002c0008t0006 a0002c0017t0004 a0016c0052t0039	a0001c0010t0021g0046 a0001c0050t0021g0046 a0002c0006t0006g0001 others(6): Show a0001c0010t0021g0046 a0001c0050t0021g0046 a0002c0006t0006g0001 a0002c0006t0006g0005 a0002c0006t0006g0059 a0002c0008t0006g0005 a0002c0008t0006g0029 a0002c0017t0004g0101 a0016c0052t0039g0027	12	422	0.0284	-242	c.30 others(11): Show c.3024_*3265del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1734		chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122121	ACGGTGGT others(235): Show ACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGT GGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTG GTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	286	0.0035	-242	c.335 others(19): Show c.335-13140_335-12899del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
RNF208_chr9_137215259_137227240	137218332	CCGCAACC others(235): Show CCGCAACCCTGGGCCCTGGGGCTCCCTGGAGCACCGCTACCAGCTGCGCT TCCTGGCAGGGCCCGTGGGCGGCCGGGGCTGCCTGCCCTTCCTGCCCTGT CCACCCTGCCTGGGTGCCCGGCTCTGGACCCTGCGGGAGCGGGGACCCTG TGCCCGCCGCCTGGCGCTGCTGAGCCTGCTGGCCCTTGAGCTTCTGGGGC TGCTGCTGGTCTTCACGCCGCTCCTGCTGCTGGGACTGCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	390	0.0026	-242	c.18 others(11): Show c.1853_*2094del		RNF208	ENSG00000212864.4	transcript	ENST00000391553.3	protein_coding					1926		chr9	TogoVar
ROR2_chr9_91717601_91955228	91796743	CGGGGCTG others(235): Show CGGGGCTGACACCCTGCATTCTGTGGGCAGGGCTGACACCCTGGGCTCTG TGGGTGGGGAATGACACCCTGGGATCTGTGGGTGGGGCTGACACCCTGGG CTCTGTGGGTGGGGCTGACACCCTGGCTCTGTGGGCGGGGCTGACACCCT GGGATCTGTGGATGGGGCTGACACCCTGGCTCTGTGGGCGGGGCTGACAC CCTGGGATCTGTGGATAGGGCTGACACCCTGGGCTCTGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(58): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01109.hp2 HG01169.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp2 NA18985.hp2 NA18994.hp1 NA18998.hp1 NA19012.hp1 NA19056.hp2 NA19065.hp2 NA19067.hp1 NA19072.hp1 NA19089.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0014	a0001c0001 a0001c0005 a0001c0009 others(15): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0001c0035 a0001c0042 a0002c0004 a0002c0006 a0002c0007 a0002c0013 a0003c0003 a0004c0002 a0005c0021 a0006c0011 a0007c0012 a0009c0016 a0010c0038 a0014c0031	a0001c0001t0001 a0001c0001t0007 a0001c0005t0003 others(19): Show a0001c0001t0001 a0001c0001t0007 a0001c0005t0003 a0001c0005t0009 a0001c0009t0010 a0001c0010t0004 a0001c0035t0003 a0001c0042t0015 a0002c0004t0003 a0002c0004t0012 a0002c0006t0004 a0002c0007t0001 a0002c0013t0003 a0003c0003t0002 a0004c0002t0002 a0004c0002t0008 a0005c0021t0005 a0006c0011t0001 a0007c0012t0003 a0009c0016t0007 a0010c0038t0004 a0014c0031t0004	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0051 others(58): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0007g0007 a0001c0005t0003g0018 a0001c0005t0003g0102 a0001c0005t0003g0148 a0001c0005t0003g0155 a0001c0005t0003g0171 a0001c0005t0003g0217 a0001c0005t0009g0099 a0001c0009t0010g0008 a0001c0010t0004g0109 a0001c0035t0003g0204 a0001c0042t0015g0225 a0002c0004t0003g0072 a0002c0004t0003g0074 a0002c0004t0003g0112 a0002c0004t0003g0161 a0002c0004t0012g0114 a0002c0006t0004g0026 a0002c0006t0004g0037 a0002c0006t0004g0047 a0002c0006t0004g0055 a0002c0006t0004g0075 a0002c0006t0004g0086 a0002c0006t0004g0113 a0002c0006t0004g0124 a0002c0006t0004g0181 a0002c0007t0001g0009 a0002c0007t0001g0012 a0002c0013t0003g0058 a0002c0013t0003g0105 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0172 a0003c0003t0002g0173 a0004c0002t0002g0057 a0004c0002t0002g0125 a0004c0002t0008g0203 a0005c0021t0005g0002 a0006c0011t0001g0205 a0006c0011t0001g0209 a0006c0011t0001g0222 a0007c0012t0003g0163 a0007c0012t0003g0164 a0009c0016t0007g0116 a0009c0016t0007g0121 a0010c0038t0004g0096 a0014c0031t0004g0122	61	226	0.2699	-242	c.98- others(17): Show c.98-21167_98-20926del		ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8						chr9	TogoVar
RPH3AL_chr17_207389_357807	287657	CCTCTCTC others(235): Show CCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACCGA CAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTCCA CCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTC CACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03453.hp2 HG02080.hp2 HG03453.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0002 a0007c0014t0018 a0001c0001t0002 a0007c0014t0018	a0001c0001t0002g0079 a0007c0014t0018g0102 a0001c0001t0002g0079 a0007c0014t0018g0102	2	133	0.0150	-242	c.352 others(17): Show c.352-6045_352-5804del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SBK2_chr19_55523611_55542133	55530538	GGGCCTAG others(235): Show GGGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGTGGCTTAGTGTGA CCCGTGAGGCCTGTGGGTTTAGTGTGGCCTAGTGTGACCCGTGAGGCCTG TGGGTTTAGTGTGGCCTAGGGTGACCCCGTGAGGCCTAGTGTGACCTGTG AGGCCTGTGGGTTTAGTGGGGCCTAGTGTGACCTGTGAGGCCTGTGGGTT TAGTGTGGCTTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02015.hp1 HG02258.hp2 others(27): Show HG01928.hp1 HG02015.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp1 NA18612.hp1 NA18942.hp2 NA18947.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18991.hp2 NA18997.hp2 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2	a0000 a0001 a0005 a0000 a0001 a0005	a0000c0003 a0000c0007 a0001c0001 others(1): Show a0000c0003 a0000c0007 a0001c0001 a0005c0009	a0000c0003t0004 a0000c0007t0004 a0001c0001t0004 others(8): Show a0000c0003t0004 a0000c0007t0004 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0045 a0005c0009t0042 a0005c0009t0043	a0000c0003t0004g0126 a0000c0003t0004g0149 a0000c0003t0004g0153 others(17): Show a0000c0003t0004g0126 a0000c0003t0004g0149 a0000c0003t0004g0153 a0000c0007t0004g0150 a0001c0001t0004g0005 a0001c0001t0004g0023 a0001c0001t0004g0048 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0245 a0001c0001t0007g0139 a0001c0001t0008g0166 a0001c0001t0010g0059 a0001c0001t0011g0151 a0001c0001t0013g0178 a0001c0001t0045g0055 a0005c0009t0042g0155 a0005c0009t0043g0215	30	434	0.0691	-242	c.456 others(15): Show c.456+363_457-216del		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3						chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1288403	CCGTGTCC others(235): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	290	0.0035	-242	c.166 others(17): Show c.1662+368_1662+609del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMOC2_chr6_168436184_168672992	168488790	TCTTGGAT others(235): Show TCTTGGATCACACTGTTTTAGAGGGAAATATATCGAATCATCTGGGTCCC CTTGCATCACACTGTTTTAGAATGAAATATATCAAATCGTCTGGGTCCCC TTGGATCACACTGTTTTAGAATGAAATATATCAAATCGTCTGGGTCCCCT TGCATCACACTGTTTTAGAGTGAAATATATCGAATCGTCTGGGTCCTCTT GGATCACAGTTTTAGAGTGAAATATATGAATCATCTGGGTCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	180	0.0056	-242	c.85- others(17): Show c.85-21071_85-20830del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTB1_chr8_120530756_120817046	120584888	GATACGTT others(235): Show GATACGTTTCCATGCCAAGGAATGCCAGAGATTGCCAGCAATCTGGTGGT GACCTGAAACTAGGAGACAGGCATGGAACATATTCTTCCTTATGTCGTCA GAAGGAACCAATCCAGCTGACACCTTAATCTCCTAATTCTAGCCTCCAGA ACTGTGAGACTATACATTTCTGTAGTGTAAGCCACCCAGTTTATGGTACT TTGTTATGGCAGCCCTAACAAGGGCATTCGAGCCCTATGCTGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	254	0.0039	-242	c.997 others(17): Show c.997-9905_997-9664del		SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	3/6						chr8	TogoVar
STARD13_chr13_33098137_33290755	33177748	AAAAAAGG others(235): Show AAAAAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19065.hp1 NA19043.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0001t0002 a0001c0002t0008	a0001c0001t0002g0229 a0001c0002t0008g0045 a0001c0001t0002g0229 a0001c0002t0008g0045	2	302	0.0066	-242	c.170 others(19): Show c.170-10368_170-10127del		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
TRDN_chr6_123211339_123641950	123266349	AATATATA others(235): Show AATATATATATTATGATATGTATTATATATAATATATATATTATGATATG TATTATATATAATATATAGATTATGATATGTATTATATATAATATATAGA TTATGATATGTATTATATATAATATATATATTATAATATGTATTATATAT AATATATATATTATAATATGTATTATATATAATATATATATTATAATATG TATTATATATAATATATATATTATAATATGTATTATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0004 a0009c0011t0004	a0009c0011t0004g0131 a0009c0011t0004g0131	1	152	0.0066	-242	c.178 others(19): Show c.1783+1116_1784-1012del		TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	32/40						chr6	TogoVar
TRIML1_chr4_188134441_188152743	188152501	GGGGTGAG others(235): Show GGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA GGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG02074.hp1 HG02074.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0009c0012t0001 a0001c0001t0001 a0009c0012t0001	a0001c0001t0001g0002 a0009c0012t0001g0002 a0001c0001t0001g0002 a0009c0012t0001g0002	2	228	0.0088	-242	c.51 others(11): Show c.5130_*5371del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4759		chr4	TogoVar
TSPAN32_chr11_2297013_2323204	2308463	CCAACAGT others(235): Show CCAACAGTGACCAGCCCCCCATAGTGACCGGCCCCCCACAGTGACCAGCC CCCCGCAATGACCAGCCCCCAACAGTGACCAGCCCCCCATAGTGACCGGC CCCCCGCAGTGACCAGCCCCCCGCAATGACCAGCCCCCAACAGTGACCAG CCCCCCATAGTGACCGGCCCCCCACAGTGACTGGCCCGCCCACAGTGACC GGCCCCCCCCAGCAGCGACCAGCCCCCCGCAGTGACCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	412	0.0024	-242	c.280 others(14): Show c.280-255_280-14del		TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
USP53_chr4_119207713_119300518	119248205	AGAAACTG others(235): Show AGAAACTGAATGATGTTTCCAGTTTCTTAATTTAGATTAGAAATACAGGT TGGGTATCTCTTGTCTGAAATGCTCAGGACCAGCAGTGTCCTCTGAGGGT GGGACCTGGGAACCCTATATGTTTAATTCTTGTGTCTGCTAACATTTGAT TTAGAGGCTGGTGCAAACATTTCTACACTTGATGATACAAATAATTAATT TTTGTATGAAATTTTAGAGCAAAAGACTTCTGTATTATTTTCC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0219 a0001c0001t0016g0219	1	380	0.0026	-242	c.238 others(15): Show c.238-538_238-297del		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF584_chr19_58403649_58423327	58410539	ATATATAT others(235): Show ATATATATATATATATATATGTGTATATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTGTATATATGTGTATATATGTGTAT ATATATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTAT ATATGTATATATATATGTATATATGTGTATATATATATGTATATATATAT ATGTGTGTATATATATATATATATGTATATATATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG02257.hp2 others(24): Show HG01256.hp1 HG01261.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA18984.hp2 NA19043.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0005 a0001c0001t0003 a0002c0002t0005	a0001c0001t0003g0283 a0002c0002t0005g0010 a0002c0002t0005g0037 others(16): Show a0001c0001t0003g0283 a0002c0002t0005g0010 a0002c0002t0005g0037 a0002c0002t0005g0038 a0002c0002t0005g0039 a0002c0002t0005g0040 a0002c0002t0005g0274 a0002c0002t0005g0275 a0002c0002t0005g0276 a0002c0002t0005g0277 a0002c0002t0005g0278 a0002c0002t0005g0279 a0002c0002t0005g0280 a0002c0002t0005g0281 a0002c0002t0005g0282 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0005g0286 a0002c0002t0005g0293	27	426	0.0634	-242	c.169 others(15): Show c.169+450_169+691del		ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410543	ATATATAT others(235): Show ATATATATATATATATGTGTATATATATATGTATATATATGTATATATAT GTATATATATGTATATATATGTGTATATATGTGTATATATGTGTATATAT ATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTATATAT GTATATATATATGTATATATGTGTATATATATATGTATATATATATATGT GTGTATATATATATATATATGTATATATATATATAATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0251 a0003c0003t0004g0251	1	426	0.0024	-242	c.169 others(15): Show c.169+454_169+695del		ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410545	ATATATAT others(235): Show ATATATATATATATGTGTATATATATATGTATATATATGTATATATATGT ATATATATGTATATATATGTGTATATATGTGTATATATGTGTATATATAT GTGTATATATGTGTATATATGTATATATGTGTATATATATGTATATATGT ATATATATATGTATATATGTGTATATATATATGTATATATATATATGTGT GTATATATATATATATATGTATATATATATATAATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19063.hp1 HG04204.hp2 NA19063.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0247 a0003c0003t0004g0265 a0003c0003t0004g0247 a0003c0003t0004g0265	2	426	0.0047	-242	c.169 others(15): Show c.169+456_169+697del		ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZZEF1_chr17_3999445_4148030	4138890	CCCTTCTC others(235): Show CCCTTCTCCCTGGACCACACCTACCATGAGAAAAGGTGTGTTGTACTATA AAATGATAATGTTTCAGACTTTGGTCCATGGTCCAACTCCAAGAACTTCT TTATAACACCTCCTCAAGTAACTGAGGTCACAGGAATGTGAAAGCAAGAC AGCTGCGTGGACACCAATGGCAGCTAAGTTAGGAAGCCAAAGAAGAAACA TGTAACACTTGGAAACTCTCAGCATTATAATAAACCATGCGCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01168.hp1 others(33): Show HG00140.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01517.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03453.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA21309.hp1	a0004 a0005 a0006 others(4): Show a0004 a0005 a0006 a0011 a0015 a0017 a0022	a0004c0009 a0004c0025 a0004c0056 others(12): Show a0004c0009 a0004c0025 a0004c0056 a0004c0060 a0004c0063 a0005c0061 a0006c0008 a0006c0019 a0006c0024 a0006c0027 a0011c0017 a0011c0042 a0015c0062 a0017c0026 a0022c0043	a0004c0009t0003 a0004c0009t0019 a0004c0025t0003 others(15): Show a0004c0009t0003 a0004c0009t0019 a0004c0025t0003 a0004c0056t0003 a0004c0060t0001 a0004c0063t0003 a0005c0061t0005 a0006c0008t0002 a0006c0008t0005 a0006c0008t0009 a0006c0019t0003 a0006c0024t0003 a0006c0027t0003 a0011c0017t0009 a0011c0042t0009 a0015c0062t0001 a0017c0026t0005 a0022c0043t0009	a0004c0009t0003g0001 a0004c0009t0003g0226 a0004c0009t0003g0227 others(32): Show a0004c0009t0003g0001 a0004c0009t0003g0226 a0004c0009t0003g0227 a0004c0009t0003g0228 a0004c0009t0003g0231 a0004c0009t0019g0014 a0004c0025t0003g0229 a0004c0025t0003g0230 a0004c0056t0003g0221 a0004c0060t0001g0225 a0004c0063t0003g0234 a0005c0061t0005g0239 a0006c0008t0002g0243 a0006c0008t0005g0235 a0006c0008t0005g0237 a0006c0008t0005g0238 a0006c0008t0005g0240 a0006c0008t0005g0244 a0006c0008t0005g0245 a0006c0008t0009g0220 a0006c0019t0003g0222 a0006c0019t0003g0223 a0006c0019t0003g0224 a0006c0024t0003g0241 a0006c0024t0003g0242 a0006c0027t0003g0257 a0006c0027t0003g0258 a0011c0017t0009g0209 a0011c0017t0009g0211 a0011c0017t0009g0213 a0011c0042t0009g0210 a0015c0062t0001g0236 a0017c0026t0005g0232 a0017c0026t0005g0233 a0022c0043t0009g0212	36	296	0.1216	-242	c.354 others(17): Show c.354+3410_354+3651del		ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	1/54						chr17	TogoVar
ABCG1_chr21_42214140_42302244	42283801	CCCCCCCA others(234): Show CCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGA TGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCC CCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTT GCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCG CCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02056.hp1 NA18994.hp1 others(1): Show HG01978.hp2 HG02056.hp1 NA18994.hp1 NA19067.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0003c0010t0001 a0001c0001t0001 a0001c0001t0002 a0003c0010t0001	a0001c0001t0001g0248 a0001c0001t0002g0115 a0001c0001t0002g0180 others(1): Show a0001c0001t0001g0248 a0001c0001t0002g0115 a0001c0001t0002g0180 a0003c0010t0001g0249	4	354	0.0113	-241	c.735 others(15): Show c.735-752_735-512del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283897	TCCCCCCG others(234): Show TCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGT CCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCC CCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAG TGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18948.hp1 NA18970.hp2 HG02071.hp2 NA18948.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0192 a0001c0001t0001g0247 a0001c0001t0002g0218 a0001c0001t0001g0192 a0001c0001t0001g0247 a0001c0001t0002g0218	3	354	0.0085	-241	c.735 others(15): Show c.735-662_735-422del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14						chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283959	CCCCCCGC others(234): Show CCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACA GTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCC CACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGT GGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03139.hp2 HG01109.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0005 a0001c0001t0017g0005	2	354	0.0057	-241	c.735 others(15): Show c.735-595_735-355del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ADGRL3_chr4_61195326_62083335	61847589	TATATATA others(234): Show TATATATATAATATATAATATATTATATATATAATATAAAATATATTATA TATATAATATAAAATATATTATATATATAATATAAAATATATTATATATA TAATATAAAATATATTATATATATAATATAAAATATATTATATATATAAT ACAAAATATATTATATATAATACAAAATATATATATAATACAAAATATAT TATATATATAATATAAAATATATTATATATATATAATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	58	0.0172	-241	c.148 others(21): Show c.1480+33710_1480+33950del		ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
ADORA2B_chr17_15940130_15980746	15979654	GCTGGGCG others(234): Show GCTGGGCGGAGGACTGACCCCCCCCACCTCCCTCCCGAATGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC GCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02647.hp1 others(1): Show HG02486.hp2 HG02615.hp2 HG02647.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038	4	346	0.0116	-241	c.43 others(11): Show c.4313_*4553del		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding					3909		chr17	TogoVar
C7orf50_chr7_992006_1143247	1108007	GGGGCTGT others(234): Show GGGGCTGTGTCCCGCACTGGAGTCCCGCACCCCGGGGGGAAGCAGAGGGG GGCTGTGTCCCGCACTGGAGTCCCGCACCCCGGGGGGAAGCAGAGGGGGG CTGTGTCCCGCACTGGAGTCCCGCACCCCGGGGGGAAGCAGAGGGGGGCT GTGTCCCGCACTGGAGTCCCGCACCCCGGGGGGAAGCAGAGGGGGGCTGT GTCCCGCACTGGAGTCCCGCACCCCGGGGGGGAAGCAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02559.hp2 others(15): Show HG02109.hp1 HG02145.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0002c0002t0003 a0002c0002t0018	a0001c0001t0002g0318 a0001c0001t0005g0308 a0001c0001t0005g0314 others(15): Show a0001c0001t0002g0318 a0001c0001t0005g0308 a0001c0001t0005g0314 a0001c0001t0011g0309 a0001c0001t0011g0311 a0001c0001t0012g0310 a0001c0001t0012g0312 a0001c0001t0012g0313 a0001c0001t0012g0321 a0001c0001t0015g0319 a0001c0001t0015g0320 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0202 a0002c0002t0018g0203	18	326	0.0552	-241	c.129 others(19): Show c.129+19009_129+19249del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CACNG7_chr19_53904278_53948950	53920203	TCATTGGT others(234): Show TCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCT GGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAG GTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTTCC CCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGTCATTGGTGGACT TGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCCGGTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	364	0.0028	-241	c.424 others(17): Show c.424+4699_424+4939del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5						chr19	TogoVar
CAMKK1_chr17_3855315_3898053	3867988	CACCGTCT others(234): Show CACCGTCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAA CTGATACACAGGATCTGGGGGAGAAGCAGGCGCAGTCTAACTGATACGTG GGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGG GAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGG CGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(54): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG01070.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02027.hp2 HG02074.hp2 HG02145.hp1 HG02165.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18947.hp2 NA18960.hp1 NA18961.hp1 NA18971.hp1 NA18972.hp1 NA18986.hp1 NA18992.hp1 NA18999.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA19067.hp1 NA19081.hp1 NA19087.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(26): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0022 a0001c0002t0025 a0001c0002t0055 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0013 a0001c0003t0059 a0001c0003t0070 a0001c0004t0006 a0001c0004t0008 a0001c0004t0009 a0001c0004t0036 a0001c0004t0044 a0001c0005t0006 a0001c0012t0066 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0010	a0001c0002t0001g0204 a0001c0002t0001g0279 a0001c0002t0001g0289 others(51): Show a0001c0002t0001g0204 a0001c0002t0001g0279 a0001c0002t0001g0289 a0001c0002t0001g0394 a0001c0002t0002g0055 a0001c0002t0003g0247 a0001c0002t0003g0254 a0001c0002t0003g0256 a0001c0002t0003g0266 a0001c0002t0003g0329 a0001c0002t0003g0344 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0004g0096 a0001c0002t0004g0103 a0001c0002t0006g0298 a0001c0002t0008g0182 a0001c0002t0009g0339 a0001c0002t0009g0401 a0001c0002t0010g0316 a0001c0002t0022g0147 a0001c0002t0022g0175 a0001c0002t0025g0193 a0001c0002t0055g0228 a0001c0003t0001g0310 a0001c0003t0001g0312 a0001c0003t0003g0370 a0001c0003t0003g0392 a0001c0003t0004g0067 a0001c0003t0006g0281 a0001c0003t0013g0045 a0001c0003t0059g0403 a0001c0003t0070g0429 a0001c0004t0006g0397 a0001c0004t0008g0194 a0001c0004t0008g0195 a0001c0004t0008g0197 a0001c0004t0009g0395 a0001c0004t0036g0023 a0001c0004t0044g0354 a0001c0005t0006g0280 a0001c0012t0066g0420 a0002c0001t0001g0239 a0002c0001t0003g0206 a0002c0001t0003g0253 a0002c0001t0003g0335 a0002c0001t0003g0353 a0002c0001t0003g0390 a0002c0001t0003g0391 a0002c0001t0004g0037 a0002c0001t0004g0104 a0002c0001t0004g0127 a0002c0001t0004g0133 a0002c0001t0010g0216	57	446	0.1278	-241	c.134 others(19): Show c.1341+1258_1341+1498del		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15						chr17	TogoVar
DDX51_chr12_132131594_132149319	132135688	ACGGTGCC others(234): Show ACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0081 a0004c0004t0006g0081	1	334	0.0030	-241	c.33 others(11): Show c.3343_*3583del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					905		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135745	TCCCGAGT others(234): Show TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0017 a0012c0015t0017	a0012c0015t0017g0031 a0012c0015t0017g0031	1	334	0.0030	-241	c.32 others(11): Show c.3286_*3526del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					848		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135790	CCCCGGTG others(234): Show CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0038 a0004c0004t0038	a0004c0004t0038g0079 a0004c0004t0038g0079	1	334	0.0030	-241	c.32 others(11): Show c.3241_*3481del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					803		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1109368	ATCTGTGA others(234): Show ATCTGTGAGGTGTGCACGGGTCTGTGAGGTGTGCATGGGTCTGTGAGGTG TGCACGTGCCTATGAAGTGTGCTGGATCTGTGAGGTGTGCATAGGTCTGT GACGTGCTGGGTCTGTGAGGTGTGTACGGGTCTGTGAGGTGTGCATGGGT CTGTGACATGTGCTGGGTCTGTGAGGTGTGCACGGGTCTGTGAGGTGTGC ACGTGCCTATGAAGTGTGCTGGGTCTGTGATGTGTGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp2 HG01361.hp1 HG02071.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0001 a0001c0012 a0002c0001	a0001c0012t0004 a0002c0001t0001 a0001c0012t0004 a0002c0001t0001	a0001c0012t0004g0036 a0002c0001t0001g0018 a0001c0012t0004g0036 a0002c0001t0001g0018	2	40	0.0500	-241	c.74- others(19): Show c.74-149058_74-148818del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1240838	ATGTGTAG others(234): Show ATGTGTAGTTCTCTCTCACACATAGTGTCATGTCTAGTTCTCTCTCACAC AGAGTATCGTGTCTAGTTCTCTCACATGGCACTGTGTCTAGTTCTCTCAC ATGGCGCCGTGTCTAGTTCTCTTACATGGCGCCGTGTCTAGTTCTCTCAC ATGGTGCTGTGTCTAGTTCTCTCTCACACATAGCGTCATGTATAGTTCTG TCTCACACAGAGCATCGTGTCTGGTTCTCTCACATGGTGACG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG02922.hp1 others(4): Show HG01891.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03486.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0007 a0003c0005	a0001c0002t0001 a0001c0002t0022 a0001c0003t0024 others(4): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0024 a0002c0001t0002 a0002c0001t0005 a0002c0007t0008 a0003c0005t0002	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0024g0003 others(4): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0024g0003 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0007t0008g0040 a0003c0005t0002g0031	7	40	0.1750	-241	c.74- others(17): Show c.74-18009_74-17769del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	322111	CACTCACG others(234): Show CACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAA ACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGG CTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTG ACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCC CAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0025 a0025	a0025c0125 a0025c0125	a0025c0125t0002 a0025c0125t0002	a0025c0125t0002g0123 a0025c0125t0002g0123	1	256	0.0039	-241	c.828 others(17): Show c.828-3558_828-3318del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619087	CTCCCTGC others(234): Show CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCTCCCTGCTCCCTCCCTGC AGCCCCCTGCCCCCCCACTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	250	0.0040	-241	c.-10 others(19): Show c.-107+5369_-107+5609del		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
EIF3H_chr8_116637130_116760823	116679188	CGGCCAGC others(234): Show CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GAAGGTGGGGGGGTCAGCCCCCCGCCCGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18965.hp1 NA19064.hp1 others(2): Show NA18959.hp2 NA18965.hp1 NA19064.hp1 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0270 others(2): Show a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0282 a0001c0001t0002g0330	5	336	0.0149	-241	c.290 others(19): Show c.290-20449_290-20209del		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7						chr8	TogoVar
EIPR1_chr2_3183970_3382818	3315169	CCACCCCC others(234): Show CCACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCAC CATCCCCATACACACCCCCTACCACCATCCTCACCACCATCCCCATACAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	250	0.0040	-241	c.259 others(19): Show c.259+22607_259+22847del		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ERFL_chr19_41902704_41933449	41914616	TTCCACCA others(234): Show TTCCACCATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCT CTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCT GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGT CTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCCTCCA CCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	330	0.0030	-241	c.-13 others(17): Show c.-13-1925_-13-1685del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar

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