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
CDH4_chr20_61247261_61945617	61784198	GCCCAGTT others(243): Show GCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCA AGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTCG GGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAA T	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp2 HG00408.hp2 HG01123.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0012 a0001c0001t0002 a0002c0002t0012	a0001c0001t0002g0078 a0002c0002t0012g0082 a0001c0001t0002g0078 a0002c0002t0012g0082	2	106	0.0189	-250	c.576 others(19): Show c.576+11040_576+11289del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784347	AAGGCCCT others(243): Show AAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTC GGGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTA ATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCC CAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGT GTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTC C	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0006 a0001c0020t0006	a0001c0020t0006g0094 a0001c0020t0006g0094	1	106	0.0094	-250	c.576 others(19): Show c.576+11203_576+11452del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61942997	TGAGGAGC others(243): Show TGAGGAGCACTGCGACTGTCTGCACCATGGCCGCCCCTTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0031 a0001c0001t0018g0031	1	106	0.0094	-250	c.60 others(11): Show c.6055_*6304del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					2381		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943666	CTGCACCG others(243): Show CTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACCGACAACGAGGAGCACTGCGACCGT CTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGT A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0003c0017 a0001c0012 a0003c0017	a0001c0012t0001 a0003c0017t0002 a0001c0012t0001 a0003c0017t0002	a0001c0012t0001g0008 a0003c0017t0002g0053 a0001c0012t0001g0008 a0003c0017t0002g0053	2	106	0.0189	-250	c.67 others(11): Show c.6724_*6973del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					3050		chr20	TogoVar
CHD5_chr1_6096787_6185321	6160136	CAGCCAGG others(243): Show CAGCCAGGGAAGGGCCCCAGCAAGGGAAGAGCCCCAGCCAGGGAAGGGCC CCAGCCAGAGAAGAAGAGCCCTAGCCAGGGAAGGGCCCCAGCCAGAGAAG GGCCCCAGCCAGAGAAGGAGAGCCCCAGCCAGGGAAGGGCCCCAGCCAGA GAAGAAGAACCCCAGCCAGGGAAGGGCCCCAGCCAGGGAAGGGCCCCAGC AAGGGAAGAGCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAGCCC T	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	320	0.0031	-250	c.208 others(15): Show c.208-871_208-622del		CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41						chr1	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(243): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0109 a0003c0013t0001g0109	1	404	0.0025	-250	c.738 others(11): Show c.738+116_747del	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805			chr16	TogoVar
CROCC2_chr2_240901336_240998311	240908925	GCTCTACC others(243): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp2 HG02647.hp1 others(1): Show HG01099.hp2 HG02258.hp2 HG02647.hp1 HG02717.hp2	a0003 a0005 a0003 a0005	a0003c0086 a0005c0005 a0003c0086 a0005c0005	a0003c0086t0001 a0005c0005t0001 a0003c0086t0001 a0005c0005t0001	a0003c0086t0001g0066 a0005c0005t0001g0065 a0005c0005t0001g0067 others(1): Show a0003c0086t0001g0066 a0005c0005t0001g0065 a0005c0005t0001g0067 a0005c0005t0001g0068	4	350	0.0114	-250	c.78+ others(15): Show c.78+2384_78+2633del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908995	GGTGACCT others(243): Show GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG C	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0174 a0014c0014t0001g0174	1	350	0.0029	-250	c.78+ others(15): Show c.78+2409_78+2658del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKB_chr7_14140049_14907751	14212030	ACTCTCAT others(243): Show ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGT GATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA T	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18988.hp2 HG00558.hp2 NA18988.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0004 a0001c0004t0001 a0001c0004t0004	a0001c0004t0001g0026 a0001c0004t0004g0113 a0001c0004t0001g0026 a0001c0004t0004g0113	2	148	0.0135	-250	c.212 others(21): Show c.2123-34129_2123-33880del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DLGAP2_chr8_732628_1713476	1014349	GTGTGTGT others(243): Show GTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACG ATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGT GTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGC CTCCACTGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACC AGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCA C	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-250	c.73+ others(19): Show c.73+106405_73+106654del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014731	GTGTGAGA others(243): Show GTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAG ACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATG CCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGAC CAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCA C	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-250	c.73+ others(19): Show c.73+106770_73+107019del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1247793	CTTTGAGA others(243): Show CTTTGAGATCAGTGTGTGAGTCTGATGGTCCACGTCGGTGGCCAGCAAGA CCTTTGACATCAGTGTGGGAGTGATGGCCCACGTCGGTGGCCAGGAAGAC CTTTGAGATCAGTGTGTGAGTCTGATGGCCCACGTCGGTGGCTGGGAAGA CATTTGAGATCAGTGTGGAGTGATGGTCCACGTTGGTGGCCGGGAAGACC TTTGAGATCAGTGTGGGAGTCTGATGGCCCACGTCGGTGGCTGGGAAGAC A	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp2 NA20300.hp2 HG02895.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0001 a0001c0002t0006 a0001c0003t0001	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027	3	40	0.0750	-250	c.74- others(17): Show c.74-11042_74-10793del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELL2_chr5_95880098_95966851	95927400	TACACACA others(243): Show TACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACA TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGA C	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19043.hp1 NA19043.hp2 HG02965.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0012 a0001c0003t0007 a0001c0003t0012	a0001c0003t0007g0017 a0001c0003t0012g0015 a0001c0003t0012g0016 a0001c0003t0007g0017 a0001c0003t0012g0015 a0001c0003t0012g0016	3	314	0.0096	-250	c.196 others(17): Show c.196-8105_196-7856del		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11						chr5	TogoVar
ENDOV_chr17_80410167_80443086	80442836	CAAAGCAT others(243): Show CAAAGCATCACAGAGCTGGGAGGAGGAGAGAAGAGTTTGTTCTAAAAGTG GGGGGCACAGAACATCATAGAGCTGGGAGGAGAGAAGAATTCATTTTAAG GCGGTAAGGAGGGGACAGCATCACAGAGCTGGGAGAAGAGTTCATTTTAA GAGAGGGTGACAGAGTGTCTCAGAGCCAGGAGGAGGAGAGAAGAGTTCAT TCTAAGGTGGGGGACAGAGCATCACAGAGCTGGGAGAAGAGTTCATTCTA A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA21309.hp2 HG02622.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0030	2	420	0.0048	-250	c.66 others(11): Show c.6694_*6943del		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding					4751		chr17	TogoVar
EXOC2_chr6_480154_698139	520645	GCCGTCCA others(243): Show GCCGTCCACACTCGGAGACGAAAACAACCACCCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAAAACAACCACGCACGGAGCGCCGACACTC ACCGTCCACACTCGGACATGAAAACCACCACCCACCGAGCACCAACACTC ACCGTCCACACTCGGAGATGAAAACCACCACCTATTGAGTGCCAACAATC ACCGTCCACACTCGTAGATGAAAACCACCACCCACCGAGCGCCAACACTC A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(60): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03710.hp2 NA18522.hp1 NA18906.hp2 NA18969.hp2 NA18979.hp2 NA18981.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0019 a0001c0022 a0002c0005 a0004c0014 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0002 a0001c0004t0003 a0001c0007t0002 a0001c0008t0013 a0001c0010t0002 a0001c0011t0008 a0001c0019t0007 a0001c0022t0007 a0002c0005t0002 a0002c0005t0011 a0004c0014t0003 a0005c0016t0001	a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0120 others(60): Show a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0120 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0106 a0001c0001t0002g0146 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0124 a0001c0001t0003g0179 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0004g0002 a0001c0001t0004g0087 a0001c0001t0004g0143 a0001c0001t0004g0251 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0007g0212 a0001c0001t0011g0267 a0001c0001t0019g0090 a0001c0001t0025g0216 a0001c0002t0002g0072 a0001c0002t0002g0187 a0001c0002t0002g0191 a0001c0003t0001g0068 a0001c0003t0002g0061 a0001c0003t0002g0155 a0001c0003t0002g0178 a0001c0003t0002g0226 a0001c0003t0003g0205 a0001c0003t0003g0223 a0001c0003t0005g0176 a0001c0003t0005g0230 a0001c0004t0002g0156 a0001c0004t0003g0079 a0001c0004t0003g0116 a0001c0007t0002g0123 a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0010t0002g0264 a0001c0010t0002g0265 a0001c0011t0008g0154 a0001c0019t0007g0186 a0001c0022t0007g0163 a0002c0005t0002g0097 a0002c0005t0002g0152 a0002c0005t0002g0153 a0002c0005t0011g0266 a0004c0014t0003g0218 a0005c0016t0001g0172	63	272	0.2316	-250	c.238 others(21): Show c.2380+11574_2380+11823del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
FLT4_chr5_180596506_180654600	180617119	ATCCTACT others(243): Show ATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC ATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCAC G	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02723.hp2 others(2): Show HG02647.hp1 HG02647.hp2 HG02723.hp2 HG03195.hp1 NA18906.hp2	a0002 a0029 a0002 a0029	a0002c0003 a0002c0012 a0029c0028 a0002c0003 a0002c0012 a0029c0028	a0002c0003t0001 a0002c0003t0010 a0002c0012t0023 others(1): Show a0002c0003t0001 a0002c0003t0010 a0002c0012t0023 a0029c0028t0010	a0002c0003t0001g0370 a0002c0003t0001g0375 a0002c0003t0010g0178 others(2): Show a0002c0003t0001g0370 a0002c0003t0001g0375 a0002c0003t0010g0178 a0002c0012t0023g0045 a0029c0028t0010g0179	5	388	0.0129	-250	c.300 others(17): Show c.3002-375_3002-126del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29						chr5	TogoVar
GALP_chr19_56171008_56190775	56176259	CGGGGTGA others(243): Show CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAG CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC G	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	444	0.0023	-250	c.-40 others(15): Show c.-40+236_-40+485del		GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
HACL1_chr3_15555699_15606569	15592768	ACGCACAT others(243): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT G	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01884.hp1 others(13): Show HG01175.hp2 HG01192.hp2 HG01884.hp1 HG02280.hp1 HG02559.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03471.hp1 HG03704.hp1 HG04199.hp2 NA18522.hp2 NA18972.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0043 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0122 a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0013t0001g0142	16	428	0.0374	-250	c.228 others(17): Show c.228-1338_228-1089del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HACL1_chr3_15555699_15606569	15592784	GTATACAC others(243): Show GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTAT ACACATGTACGCACATGTGTGCGTGTATACACATGTACGCATATGTACAT A	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01928.hp1 HG02004.hp1 others(7): Show HG00423.hp2 HG01928.hp1 HG02004.hp1 HG02300.hp2 NA18944.hp2 NA18950.hp2 NA18979.hp2 NA18985.hp2 NA19011.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068	10	428	0.0234	-250	c.228 others(17): Show c.228-1354_228-1105del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HLA-DRB1_chr6_32573775_32594848	32592246	CCATTCTA others(243): Show CCATTCTATTACTCTCAATCATCATTTCCAATTTCTCAGCACGAAGTAGT GCAAGTTTGATCATTTCAGAATAGAATAAAAATAGTGTCTCGTTTACTTT GGAAAAATATATTTCTGTTAATGTGGAAAGTTGAAGATTTCTTGGAGAGG TTGGTTAGAAGTCACTATTGTCCCTGGATTTGAGAATAAACTGTGTTCCC ACACTACAGTGATAATTCAGTACTATTGACAATTGTGCAATTGTAACCAG G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(61): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp1 HG01515.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 NA18906.hp1 NA18944.hp1 NA18968.hp2 NA18995.hp2 NA19004.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19083.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0003 a0005 a0011 others(10): Show a0003 a0005 a0011 a0014 a0015 a0019 a0021 a0023 a0024 a0025 a0029 a0030 a0031	a0003c0002 a0005c0008 a0005c0010 others(11): Show a0003c0002 a0005c0008 a0005c0010 a0011c0012 a0014c0015 a0015c0016 a0019c0020 a0021c0023 a0023c0024 a0024c0027 a0025c0026 a0029c0032 a0030c0035 a0031c0034	a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 others(12): Show a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0011c0012t0003 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0019c0020t0010 a0021c0023t0006 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006	a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 others(37): Show a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0011c0012t0003g0076 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055	64	208	0.3077	-250	c.-27 others(11): Show c.-2754_-2505del		HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding					2399		chr6	TogoVar
INPP5E_chr9_136423619_136444845	136431264	CGCCCCCC others(243): Show CGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCC AGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCA CCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCT CATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCC TCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCC G	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0046 a0001c0004t0012g0046	1	382	0.0026	-250	c.154 others(17): Show c.1549+310_1550-148del		INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9						chr9	TogoVar
ITIH2_chr10_7698316_7754520	7737611	AATATTCT others(243): Show AATATTCTATATTATATTCTATATTCTATAGAATATTCTATATTATATTC TATATTATATTCTATATTTTCTATATTATATTCTATATAATATTCTATAT TATATTCTATATAATATTCTATATTATATTCTATATAATATTCTATATTA TATTCTATATAATATTCTATATTATATTCTATATAATATTCTATATTATA TTCTATATAATATTCTATATTATATTCTATATATTATATATTATATTCTA T	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG06807.hp2 NA19030.hp1 HG02976.hp2 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0245 a0001c0001t0001g0276 a0001c0001t0001g0277	3	380	0.0079	-250	c.195 others(18): Show c.1958-1004_1958-755del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	167997258	TGGGGGGC others(243): Show TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01496.hp1 NA18956.hp1 HG00558.hp2 HG01496.hp1 NA18956.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0004 a0001c0003 a0002c0002 a0003c0004	a0001c0003t0004 a0002c0002t0003 a0003c0004t0014 a0001c0003t0004 a0002c0002t0003 a0003c0004t0014	a0001c0003t0004g0049 a0002c0002t0003g0023 a0003c0004t0014g0085 a0001c0003t0004g0049 a0002c0002t0003g0023 a0003c0004t0014g0085	3	375	0.0080	-250	c.-22 others(11): Show c.-2210_-1961del		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					412		chr6	TogoVar
LMF1_chr16_848634_975984	953424	CGTTCACA others(243): Show CGTTCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGA CACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCA GCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCA CACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCC AAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACA T	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19002.hp1 HG01081.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0167 a0001c0001t0001g0170	2	294	0.0068	-250	c.503 others(15): Show c.503+683_503+932del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
MLPH_chr2_237482251_237560322	237544475	AGTGGTGA others(243): Show AGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG GGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTG TTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAG TGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCAC G	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	286	0.0035	-250	c.153 others(19): Show c.1539+1832_1540-1866del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195767543	TCACCATC others(243): Show TCACCATCACCATTACCATTGCCACCACCATCACCACCACCATCACCACC ACCACCATCATCACCATTGCCACCACCATCACCACCATCACCACCACCAT CGCCACCACCACCACCACCACCATCACCATCACCACCATCACTGGCCACC CCCCAAAAAATACCACCATCGGCCACCACCACCATCACCACCACCATCAC CATCGCCACCACCACCATCACCACCACCACCACCATCACCACCATCATTG C	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0105 a0105	a0105c0124 a0105c0124	a0105c0124t0003 a0105c0124t0003	a0105c0124t0003g0116 a0105c0124t0003g0116	1	249	0.0040	-250	c.135 others(20): Show c.13530-1042_13530-793del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24						chr3	TogoVar
MYOM2_chr8_2040046_2150456	2130078	GTACCCAG others(243): Show GTACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCCTCAGTACGCT ATACCCAGGGCGTCCCCACCGCGCCTTTAGTGAACACCCCTCACTACGCT CTACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCGTCAGTACCGT ATACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCGTCAGTACCCT ATACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCCTCACTACGCT A	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0030 a0001c0020t0001g0030	1	403	0.0025	-250	c.380 others(18): Show c.3800+889_3800+1138del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	32/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64174484	CAGCATCT others(243): Show CAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTC CTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTG T	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp2 HG01257.hp2 others(9): Show HG00733.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01928.hp1 HG02895.hp1 HG02897.hp1 NA18995.hp2 NA19004.hp2 NA19058.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0004	a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 others(8): Show a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0002t0002g0001 a0001c0002t0002g0064 a0001c0002t0005g0108 a0001c0002t0005g0109 a0001c0004t0004g0078	12	223	0.0538	-250	c.-99 others(18): Show c.-99+9757_-99+10006del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175077	CCTGCAGC others(243): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01928.hp1 NA18995.hp2 others(4): Show HG00733.hp2 HG01928.hp1 NA18995.hp2 NA19004.hp2 NA19058.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0004t0004g0078	7	223	0.0314	-250	c.-99 others(19): Show c.-99+10341_-99+10590del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175484	CAGCATCT others(243): Show CAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTC CTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTG T	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	223	0.0045	-250	c.-99 others(19): Show c.-99+10757_-99+11006del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688153	TATATATG others(243): Show TATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA TATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA TATATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACA CATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTAC AATATACACATATATATAATATGTGTGTACAATATACACATATAATATAA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02273.hp2 HG03139.hp1 others(4): Show HG00597.hp2 HG02273.hp2 HG03139.hp1 NA19077.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0002c0004t0001	a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0290 others(4): Show a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0290 a0001c0001t0002g0309 a0001c0001t0002g0320 a0001c0003t0003g0119 a0002c0004t0001g0298	7	352	0.0199	-250	c.36 others(11): Show c.3656_*3905del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2790		chr15	TogoVar
NCR3LG1_chr11_17346800_17382341	17382091	TTAGTGCC others(243): Show TTAGTGCCCTAGACGGGTAGCTCTGGCAGAGGGGCTGCCAATAACCCAGA ATCCAGCACAACGAAAGGCACTTCTGGCCCAGCTCTGACTAACCCCACTG TTCTTCCTTTCCCCAGCTTCTTTCAAGCTGGAATCAATCTGTTGTTCTTC GGACCTGAGGTCAACATGACTTTGATGAACGGAATTCATGTCTTCTTGCT AAAGTTATCTGGACACTTGGTACAACACAGAGTGTCTGATATCTGGGCCT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0044 a0002c0002t0003g0044	1	380	0.0026	-250	c.95 others(11): Show c.9580_*9829del		NCR3LG1	ENSG00000188211.9	transcript	ENST00000338965.9	protein_coding					4751		chr11	TogoVar
ODF3L2_chr19_458361_479983	473550	GCAGAGAT others(243): Show GCAGAGATACACGGTCACAGATCGGGAAACTGAGGCCCAGGCAGAGATAC ACAGTCACAGATGGGGAGACTGAGGCCTGAGCCTCCCAGAGATACACGGT CACAGATGGGGAGACTGAGGCCCAGGCAGAGATACATGGTCACAGATGGG GAAACTGAGGCCCAGGCAGAGATACACGATCACAGATGGGGAGACTGAGG CCCAGGCAGAGATACACGATCACAGATGGGGAGACTGAGGCCTGAGCCTC C	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	324	0.0031	-250	c.127 others(16): Show c.127+821_128-1050del		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3						chr19	TogoVar
OTUD7A_chr15_31470398_31875673	31510632	CATACATA others(243): Show CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATATATGTATATCTATATGTAACA T	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0012	1	244	0.0041	-250	c.894 others(17): Show c.894-7064_894-6815del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(243): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC G	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02083.hp2 HG02165.hp1 others(9): Show HG01346.hp1 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG04204.hp2 NA18951.hp1 NA18975.hp2 NA18977.hp1 NA19000.hp2 NA19067.hp1 NA19070.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0031 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0084 a0001c0001t0001g0148 a0001c0001t0001g0313 a0001c0001t0002g0018 a0001c0001t0002g0150 a0002c0002t0001g0165 a0002c0002t0001g0187 a0002c0002t0001g0239 a0002c0002t0002g0127	12	362	0.0332	-250	c.981 others(17): Show c.981+2103_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PDCD1_chr2_241844884_241863894	241847493	TTGAGTTC others(243): Show TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGTGCTGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGACGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCC TTGAGTTCTGGATGCTGGTGCGCTGCGCTGTCAATGGATGAATGAGAGCC G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01993.hp2 NA20805.hp1 HG01261.hp1 HG01993.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0033	3	407	0.0074	-250	c.33 others(11): Show c.3315_*3564del		PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding					2390		chr2	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	TGTGTTTT others(243): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp2 HG02630.hp2 others(3): Show HG00621.hp2 HG02027.hp2 HG02630.hp2 HG02723.hp1 HG02922.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0028 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0028 a0001c0001t0041 a0001c0001t0061 a0001c0001t0062	a0001c0001t0002g0395 a0001c0001t0005g0082 a0001c0001t0028g0035 others(3): Show a0001c0001t0002g0395 a0001c0001t0005g0082 a0001c0001t0028g0035 a0001c0001t0041g0077 a0001c0001t0061g0405 a0001c0001t0062g0050	6	432	0.0139	-250	c.77- others(15): Show c.77-2963_77-2714del		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210660	ATGTTAGC others(243): Show ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC G	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp2 others(57): Show HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00733.hp2 HG01123.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02717.hp1 HG02809.hp2 HG03041.hp1 HG03239.hp1 HG06807.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18988.hp2 NA18999.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19064.hp2 NA19068.hp1 NA19078.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0040 a0001c0001t0080 a0001c0003t0001 a0001c0003t0008 a0001c0003t0012 a0001c0003t0066 a0001c0004t0018	a0001c0001t0001g0001 a0001c0001t0001g0086 a0001c0001t0001g0094 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0183 a0001c0001t0001g0224 a0001c0001t0001g0281 a0001c0001t0001g0298 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0362 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0151 a0001c0001t0002g0225 a0001c0001t0002g0253 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0365 a0001c0001t0002g0399 a0001c0001t0003g0412 a0001c0001t0005g0001 a0001c0001t0005g0005 a0001c0001t0005g0089 a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0005g0398 a0001c0001t0006g0014 a0001c0001t0006g0297 a0001c0001t0006g0320 a0001c0001t0006g0360 a0001c0001t0007g0285 a0001c0001t0009g0093 a0001c0001t0010g0282 a0001c0001t0012g0113 a0001c0001t0012g0114 a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0017g0101 a0001c0001t0017g0219 a0001c0001t0019g0217 a0001c0001t0020g0376 a0001c0001t0024g0345 a0001c0001t0040g0150 a0001c0001t0080g0046 a0001c0003t0001g0413 a0001c0003t0008g0400 a0001c0003t0012g0291 a0001c0003t0066g0243 a0001c0004t0018g0051	60	432	0.1389	-250	c.77- others(15): Show c.77-2940_77-2691del		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
PHF2_chr9_93571584_93684587	93671285	CAGATGCA others(243): Show CAGATGCAGATGTGGGTGTGGGAGTAGGGTCAGGTGTAGATGCAGATGTG GGTGTGGGAGTAGGGTCAGGTGTAGATGCAGGTGTGGGTGTGGATGTAGG TACAGGTGTAGATGCAGATGTGGGTGTGGATGTAGGTACAGGTGTAGATG CAGGTGGGTGTGGATGTAGGTACAGGTGTAGATGCAGATGTGGGTGTGGG AGTAGGTACAGGTGTAGATGCAGGTGTGGGTGTGGATGTAGGTACAGGTG T	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp1 others(15): Show HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG02027.hp2 HG02040.hp1 HG02132.hp2 HG02615.hp2 HG02723.hp1 NA18945.hp2 NA18952.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(15): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0179	18	350	0.0514	-250	c.234 others(19): Show c.2349-2183_2349-1934del		PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(243): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0046 a0001c0008t0003g0046	1	302	0.0033	-250	c.-84 others(17): Show c.-84-1422_-84-1173del		PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32						chr1	TogoVar
PIK3C2B_chr1_204417633_204499805	204471068	CTGGTATT others(243): Show CTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA C	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0086 a0001c0006t0001g0086	1	302	0.0033	-250	c.-84 others(17): Show c.-84-1432_-84-1183del		PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32						chr1	TogoVar
PLVAP_chr19_17346455_17382342	17373007	AGTGAGTG others(243): Show AGTGAGTGGATACCGCGCCATTGCACCCCAGCCTTGGCGACAGAGCTAGA CTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGACA CCAGTTAGCCAGGTTCAGGTCTGAGAGGGGAGGCAGGGCTCTAATCTGAG GATCTAAGGGGCAGGCAGGACCCTATTGGGAGGGTCTGAGGGAGGGGCAC AGTTATGCCCTGGGGACTGAGGGGTGTTCCACCCCATCTTGGGGGGCTGA G	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18973.hp2 NA18970.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0180 a0001c0001t0001g0181	2	436	0.0046	-250	c.369 others(17): Show c.369+3663_369+3912del		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding	1/5						chr19	TogoVar
PXDNL_chr8_51314577_51814445	51534898	CTCTGCCC others(243): Show CTCTGCCCGGCCGCCCCTAGGAAGTGAGGACCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCTATCCAGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGC T	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0016 a0002c0002t0003g0016	1	122	0.0082	-250	c.380 others(19): Show c.380+21692_380+21941del		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22						chr8	TogoVar
RAPGEF1_chr9_131571775_131745076	131586971	CACACACA others(243): Show CACACACACACACACACCTGCAGAGTGAGACTCCGTCTCAAACACACACA CACACACACACACACACACCCCTGCAGAGCGAGACTCCGTCTCAAACACA CACACACACACACCTGCAGAGCGAGACTCCGTCTTACACACACACCTGCA GAGCGAGACTCCGTCTCAAACACACACACACACACACACCTGCAGAGCGA GACTCCGTCTCAAACACACACACACACCTGCAGAGCGAGACTCCGTCTCA A	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG01243.hp1 others(13): Show HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0035 a0001c0007t0005	a0001c0001t0005g0021 a0001c0001t0005g0026 a0001c0001t0005g0027 others(13): Show a0001c0001t0005g0021 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0038 a0001c0001t0008g0033 a0001c0001t0008g0040 a0001c0001t0008g0041 a0001c0001t0016g0294 a0001c0001t0035g0359 a0001c0007t0005g0029 a0001c0007t0005g0037 a0001c0007t0005g0039	16	368	0.0435	-250	c.323 others(17): Show c.3233+515_3233+764del		RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26						chr9	TogoVar
RASA3_chr13_113972783_114137623	114120087	TCCAGCCA others(243): Show TCCAGCCAGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCG ATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCTCCCT CCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGG CGTCGATCAGGGCCCCCCCTCCTCTCTCCAGCCAGACGTCGGTCAGGGCC CCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCTCCCTCCTCTCTCCA G	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02559.hp2 HG02723.hp2 others(2): Show HG00621.hp2 HG02559.hp2 HG02723.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0002 a0001c0011t0001 a0001c0001t0001 a0001c0002t0002 a0001c0011t0001	a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0002t0002g0025 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0011t0001g0042	5	67	0.0746	-250	c.55+ others(17): Show c.55+12098_55+12347del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RPH3AL_chr17_207389_357807	288483	CCTCTCTC others(243): Show CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCC T	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02895.hp2 HG01192.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0036 a0001c0003t0030 a0001c0003t0036	a0001c0003t0030g0122 a0001c0003t0036g0064 a0001c0003t0030g0122 a0001c0003t0036g0064	2	133	0.0150	-250	c.352 others(17): Show c.352-6879_352-6630del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SDHA_chr5_213320_262082	257838	GAGCATTA others(243): Show GAGCATTACTGTGTGAGCTCCGCCTCCTGCCATAGCATTACTGTGAGCTC CGCCTCCCGACAGCATTACCGTGTGAGCTCCGCCCCCGTTAGAGCATTAC TGTGTGAGCTCCACCCCCTGCCAGAGCATTACTGGGTGAGCTCCGCCCCT GCCAGAGCATTACCTTGTGAGCTCCACCCCCTGCCAGAGCATTACTGGGT GAGCTCCACCCCCTGCCAGAGCATTACTGTGTGAGCTCCGCCTCCTGCCA T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	266	0.0038	-250	c.14 others(11): Show c.1419_*1668del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					757		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070739	GAGCCCCC others(243): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATG C	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0031 a0002c0011t0002g0031	1	118	0.0085	-250	c.224 others(19): Show c.2241+2644_2241+2893del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC2A9_chr4_9821224_10026497	9950666	GAAAGAAA others(243): Show GAAAGAAAACAGTATGGAGAGATCGAGACCATCCTGGCTAACACGGTGAA ACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGC GCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(200): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0019	a0001c0001 a0001c0013 a0001c0016 others(27): Show a0001c0001 a0001c0013 a0001c0016 a0001c0025 a0002c0006 a0002c0008 a0002c0039 a0003c0003 a0003c0021 a0003c0030 a0003c0031 a0004c0002 a0005c0005 a0005c0009 a0005c0037 a0006c0004 a0006c0012 a0006c0024 a0008c0022 a0008c0032 a0009c0011 a0009c0033 a0010c0017 a0010c0023 a0011c0018 a0013c0042 a0014c0038 a0015c0035 a0016c0041 a0019c0029	a0001c0001t0001 a0001c0013t0001 a0001c0016t0001 others(27): Show a0001c0001t0001 a0001c0013t0001 a0001c0016t0001 a0001c0025t0001 a0002c0006t0001 a0002c0008t0001 a0002c0039t0001 a0003c0003t0001 a0003c0021t0001 a0003c0030t0001 a0003c0031t0001 a0004c0002t0001 a0005c0005t0001 a0005c0009t0001 a0005c0037t0001 a0006c0004t0001 a0006c0012t0001 a0006c0024t0001 a0008c0022t0001 a0008c0032t0001 a0009c0011t0001 a0009c0033t0001 a0010c0017t0001 a0010c0023t0001 a0011c0018t0001 a0013c0042t0001 a0014c0038t0001 a0015c0035t0001 a0016c0041t0001 a0019c0029t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 others(200): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0013t0001g0188 a0001c0013t0001g0213 a0001c0013t0001g0251 a0001c0013t0001g0253 a0001c0013t0001g0278 a0001c0016t0001g0219 a0001c0016t0001g0247 a0001c0016t0001g0248 a0001c0025t0001g0273 a0001c0025t0001g0274 a0002c0006t0001g0179 a0002c0006t0001g0180 a0002c0006t0001g0186 a0002c0006t0001g0191 a0002c0006t0001g0192 a0002c0006t0001g0193 a0002c0006t0001g0201 a0002c0006t0001g0202 a0002c0006t0001g0203 a0002c0006t0001g0204 a0002c0006t0001g0205 a0002c0006t0001g0206 a0002c0006t0001g0207 a0002c0006t0001g0208 a0002c0006t0001g0217 a0002c0006t0001g0218 a0002c0006t0001g0231 a0002c0006t0001g0232 a0002c0006t0001g0235 a0002c0006t0001g0240 a0002c0006t0001g0244 a0002c0006t0001g0254 a0002c0006t0001g0276 a0002c0006t0001g0279 a0002c0006t0001g0334 a0002c0006t0001g0336 a0002c0008t0001g0166 a0002c0008t0001g0167 a0002c0008t0001g0168 a0002c0008t0001g0169 a0002c0008t0001g0170 a0002c0008t0001g0171 a0002c0008t0001g0174 a0002c0008t0001g0181 a0002c0008t0001g0183 a0002c0008t0001g0209 a0002c0008t0001g0220 a0002c0008t0001g0221 a0002c0008t0001g0222 a0002c0008t0001g0223 a0002c0008t0001g0224 a0002c0008t0001g0225 a0002c0008t0001g0226 a0002c0008t0001g0227 a0002c0008t0001g0242 a0002c0008t0001g0272 a0002c0039t0001g0277 a0003c0003t0001g0058 a0003c0021t0001g0092 a0003c0021t0001g0093 a0003c0030t0001g0049 a0003c0031t0001g0072 a0004c0002t0001g0091 a0005c0005t0001g0250 a0005c0005t0001g0268 a0005c0005t0001g0269 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0275 a0005c0005t0001g0285 a0005c0005t0001g0286 a0005c0005t0001g0288 a0005c0005t0001g0290 a0005c0005t0001g0295 a0005c0005t0001g0296 a0005c0005t0001g0299 a0005c0005t0001g0301 a0005c0005t0001g0304 a0005c0005t0001g0305 a0005c0005t0001g0308 a0005c0005t0001g0309 a0005c0005t0001g0310 a0005c0005t0001g0313 a0005c0005t0001g0315 a0005c0005t0001g0318 a0005c0005t0001g0319 a0005c0005t0001g0324 a0005c0005t0001g0326 a0005c0005t0001g0328 a0005c0005t0001g0331 a0005c0005t0001g0332 a0005c0009t0001g0249 a0005c0009t0001g0255 a0005c0009t0001g0256 a0005c0009t0001g0257 a0005c0009t0001g0258 a0005c0009t0001g0259 a0005c0009t0001g0260 a0005c0009t0001g0261 a0005c0009t0001g0262 a0005c0009t0001g0263 a0005c0009t0001g0264 a0005c0009t0001g0265 a0005c0037t0001g0252 a0006c0004t0001g0281 a0006c0004t0001g0282 a0006c0004t0001g0283 a0006c0004t0001g0284 a0006c0004t0001g0287 a0006c0004t0001g0289 a0006c0004t0001g0291 a0006c0004t0001g0292 a0006c0004t0001g0293 a0006c0004t0001g0294 a0006c0004t0001g0297 a0006c0004t0001g0298 a0006c0004t0001g0300 a0006c0004t0001g0302 a0006c0004t0001g0303 a0006c0004t0001g0306 a0006c0004t0001g0307 a0006c0004t0001g0312 a0006c0004t0001g0314 a0006c0004t0001g0316 a0006c0004t0001g0317 a0006c0004t0001g0321 a0006c0004t0001g0322 a0006c0004t0001g0323 a0006c0004t0001g0325 a0006c0004t0001g0327 a0006c0004t0001g0329 a0006c0004t0001g0330 a0006c0004t0001g0335 a0006c0012t0001g0234 a0006c0012t0001g0236 a0006c0012t0001g0237 a0006c0012t0001g0239 a0006c0012t0001g0241 a0006c0012t0001g0243 a0006c0024t0001g0280 a0006c0024t0001g0311 a0008c0022t0001g0017 a0008c0022t0001g0113 a0008c0032t0001g0073 a0009c0011t0001g0041 a0009c0011t0001g0063 a0009c0011t0001g0064 a0009c0011t0001g0065 a0009c0011t0001g0067 a0009c0011t0001g0068 a0009c0033t0001g0071 a0010c0017t0001g0320 a0010c0023t0001g0157 a0010c0023t0001g0175 a0011c0018t0001g0210 a0011c0018t0001g0211 a0011c0018t0001g0212 a0013c0042t0001g0245 a0014c0038t0001g0238 a0015c0035t0001g0228 a0016c0041t0001g0185 a0019c0029t0001g0005	203	336	0.6042	-250	c.682 others(17): Show c.682-8871_682-8622del		SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	5/11						chr4	TogoVar
SMYD3_chr1_245744347_246512279	246387835	AAAAGCAT others(243): Show AAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGG GACCTCCTTGTAGAAAGCATTCATTCTGGAAAATCACCTCGAGGTTGAAG TCAGTTTCTGGGGACATCCTTGTAGAAAGCATTCATTCTTGAAAATCACC TCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTAGAAAACATTCATT CTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTA G	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	150	0.0067	-250	c.165 others(19): Show c.165-32991_165-32742del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar

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