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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMEM132C_chr12_128262170_128712911	128326752	CAGATGTC others(749): Show CAGATGTCTTTATGGCTCCCACATCTCGTTACCGACTTCACAATATTTTT TTTTTCTTTCTTAACAACGTAGTAAAACAGCACTCAGGAATTAATTGTAT TTTTAATAAAGCAGAGGCTTTTGTTGTTGTTGTTAACATTGAACTTCCTT AATTCTGGGAAGCTCAAGATTAGCCGTGTCGTAGGGGGAAAATGTTAGAA CGACTATTTAAGTAAAATTTACTTTTAGTGGTGTAATTTTTCCTTTTAGG TTTTCTTTTATCCCCAACCTTTTTGTCTGTGTGCAGATTACATCATAAGG CAAGTGGAGTCAGTGTCATATCACACCATTTATTCACTTAATCATTTACC AGACCCAGATGGAGTGATTTTAATGGGGCAGGCAGCCCCTGTCTTCCTCA TTAGCAGATTGCTTAATAAGGAAGACAGGTAGAAACAAACAAGAAAATAT CAGTTGTGATGAAAATTAAACAAGGAGTTGTCGACAAAAAGAGACCCTGT AAAATATTTGAAGAGACTTATTCTGAGCCAAACATGAGTGACCATGGCCC GAGACACAGCCCACAGGAGATCCTGAGAACGTGTGCCCCAGGTGCCCGGG GCGCAGCTTGGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTTG AGATGGAGTCTCACACTTTCACCCAGGCTGGAGTGTAGTGGCGCGATCCC GGCTCACTGCAACCTCCGCCTCCTGGCTTCTCACCATTCTCCTGCCTCAA CCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02622.hp1 others(9): Show HG01891.hp1 HG02280.hp1 HG02622.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp2 HG06807.hp1 NA19240.hp1	a0003 a0004 a0005 others(4): Show a0003 a0004 a0005 a0006 a0007 a0012 a0014	a0003c0016 a0003c0072 a0004c0007 others(7): Show a0003c0016 a0003c0072 a0004c0007 a0004c0008 a0005c0051 a0006c0022 a0006c0024 a0007c0017 a0012c0055 a0014c0068	a0003c0016t0002 a0003c0072t0007 a0004c0007t0002 others(8): Show a0003c0016t0002 a0003c0072t0007 a0004c0007t0002 a0004c0008t0003 a0004c0008t0013 a0005c0051t0003 a0006c0022t0007 a0006c0024t0002 a0007c0017t0003 a0012c0055t0001 a0014c0068t0003	a0003c0016t0002g0015 a0003c0072t0007g0118 a0004c0007t0002g0090 others(9): Show a0003c0016t0002g0015 a0003c0072t0007g0118 a0004c0007t0002g0090 a0004c0007t0002g0096 a0004c0008t0003g0010 a0004c0008t0013g0091 a0005c0051t0003g0167 a0006c0022t0007g0163 a0006c0024t0002g0141 a0007c0017t0003g0063 a0012c0055t0001g0009 a0014c0068t0003g0085	12	170	0.0706	-756	c.85+ others(17): Show c.85+59268_85+60023del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306300	CGCCAGAG others(749): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAG CTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACT AAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCC CCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCTTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTC CCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGA GATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCTTCTCCC ACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTG ATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAG TACTAAGGACAGATGGGAGACTTCTCTTCCCTTGATAGCTACAAAGAGGC TCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGG GAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTC CCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0343 a0002c0002t0001g0343	1	362	0.0028	-756	c.-12 others(19): Show c.-128+6227_-128+6982del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ATRNL1_chr10_115088365_115953999	115714063	CATATTAA others(748): Show CATATTAAGGCCTTGGCCCTAGTTGAAGCCCAGTGATCTTCATTTTTGTT TTCTGGATTGCCCCATCACTTGTTCTATCCTTAAGGAAATGGAGTGGCTT ATTTGATTTCTAAATTTAAGTGAAATAAACAGCATCAGTTATAAAGATGA TGTTGTAGGACCTTTTCCTTAGTTCAGCTAAAAATGGGGTCCTTATCACA TGACCATGAAAGGTTAGGCTCACAGATACATTGAAGGGTGGGAAAAATTG AATTTATTGGGTGAAAAGAAAAAAAAAAACTCAGCAAAGTGAGAGAATTT CCTGTTAACAGGCCCCCATCTCACCAATTGACTCCCAGGTACCACCCTAG AACAGGAGAGGCCACGTTCCTCCCGCTGCAAACAGCACGAACTTTCTGAG GCTCCACCCAGTGTGCATTCCTCCCATTGCACAGGCCTGTCAAAGGTTCT GCCAGGCGGCCCATTTTACTTGGCTATCTCAATGATATTATGTTCTTTAT CTTCACTTTTTACTTTTTAACTTGTTCAGAATCCCAAGCGGATGAGAAGG GTCTACTTAATAATAGAAACCTTATCAGAGACCCCAACAGTTCAATAGAT TCATTATTGATTGCTATGTAAGTGTCCATTTCTAGAGAAAGGGTAATGAA GCATGTATTTCTTTTCTCTGATCCACTTAAAATTTTCATCAACCAAGAAA TAAATGGCCTGATTATCAAATTTAGATATTTATGGGAAAATTCATGGAAA GGAAAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0044 a0002c0008t0044	a0002c0008t0044g0063 a0002c0008t0044g0063	1	128	0.0078	-755	c.379 others(21): Show c.3796-13178_3796-12424del	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHMP1A_chr16_89639435_89662708	89647617	GGGGTCGG others(748): Show GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG GACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGC GCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	392	0.0026	-755	c.252 others(15): Show c.252+979_253-287del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
EIF2AK2_chr2_37094210_37161980	37120508	CAAAAAAA others(748): Show CAAAAAAAAAAAAAAAAAGAAAAAAAAAGAACCCCAAAACATGTCACAAA ATAGAAATCTAAATATAATAAACAAATTTGAATCAAAATATAATAGGCCA TTTTTTATTTCAATCATAAGTTCCCGGATGTCCAGAGCTTTATTTGTTTA GCTAATTTATAAAATATGAGCTGGGCTGGGCACGGTGGCTCACGCCTATA ATCCTAGCACCTTGGGAGGCCGAGACTGGCGGATTGCTTGAGCTCAGGAG TTTGAGACCAGCCTGGGCAGCATGGCGAAACCCCATCTCTACTAAAAACA CAAAAATTAGCTGGGTGTGGTGGCGCGGCACCTGTAGTCTCAGCTACTCG GGAGGATGAGGCACGAGAATCATTTGAACCCAGAAGGCAGAGATTGCAGT AAGCTGAGATCACGCCATTGTGCTCCCGCATGAGCGATAGAGTAAGACTC TGTCTCAAAAAAAAAAAAAGAAGAGGCCGGGCGCGGTGGCTCACGCATGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAG GAGACTGAGGCAGGAGAATACTGTGAATCCGGGAGGCAGAGCTTGCAGTG AGCCAAGATTGCACCACTGCACTCCAGCCTGTGCGACAGTGCGAGACACC GTCTCA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01358.hp1 HG02602.hp1 HG00741.hp2 HG01358.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0031 a0001c0001t0004 a0001c0001t0027 a0001c0001t0031	a0001c0001t0004g0162 a0001c0001t0027g0161 a0001c0001t0031g0006 a0001c0001t0004g0162 a0001c0001t0027g0161 a0001c0001t0031g0006	3	326	0.0092	-755	c.106 others(18): Show c.1068-1124_1068-370del	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	12/16			chr2	TogoVar
TNK2_chr3_195858364_195913551	195874579	TCCCCCTC others(748): Show TCCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCC TCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGA TGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCTCCCTCGGGATGGCG CCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACG CACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACACT CCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGG CACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAA GAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCT CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCT CGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGA TGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGC CCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCT CCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGG CACACGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAG AAACTC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0023 a0023	a0023c0052 a0023c0052	a0023c0052t0005 a0023c0052t0005	a0023c0052t0005g0198 a0023c0052t0005g0198	1	372	0.0027	-755	c.125 others(19): Show c.1257-2864_1257-2110del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
DLGAP2_chr8_732628_1713476	990366	CCCCCTGC others(747): Show CCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCC CAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCT TGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCC ACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATAC TCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCC ATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCAC CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACC CCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCA GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTA CCCGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-754	c.73+ others(17): Show c.73+82401_73+83154del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
EDIL3_chr5_83935554_84389880	84293434	TCTGTGCT others(747): Show TCTGTGCTCTTAACCACTGTGCTACAGCTTAACCTGCGAGTAGCTCTGCT AACTCTTGTTTTCAAGCGTAGACTTACCCATGTAGAGGCAAACATAGGGA AAAATGAATCGTGTCAAGTTCCATCCGCATGTGTCCCAGTTAAATGTCTA CATTAAGGTAAATTAAAGCTGGCAAATCTACAGTATTTAGGGATACATTT TCAGGTTGTAATGTGGTAAAACAAGCAAGAAAGTGATTAATATAAAAATA AATACAGTATTTTGCTTTGCCAGCTGTGGGAGGCTGGGGGAGGGGGGATT GTGGCTAGAAAAGAGTACTACACAGAATGTATCTGGATTAAGACTGTTTT TTTTTTTTTGACCAAATGATGTTATATGAGTTTTCTCTTGAAAACAATTC AATACGATGTATGTTTGTTTTATTCACTTTTCTGTTTATATGTAATTTCT TGCAACAAAAGTCTTAATACATTTATATAGACATACAAATACATATTTTA GGTTTGTTGGAAACAGAACAATATTATATATCCCATTTGCAAATGTTTAT ATAAAATACATGAAGTATGGCAGCATCCAAAAAAGTAAGTCAAACTTACA TACTGTAAAATTGCAGATTCCCCTTCATTATTGCATATACCATAATGACC ATAAATTAAGTCATCATCGGCCGGGTGCGGTGGCTCACGCCTGTAATCCC AGCACTTCAGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGA CCATC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03471.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0019 a0001c0004t0010 a0001c0001t0019 a0001c0004t0010	a0001c0001t0019g0155 a0001c0004t0010g0156 a0001c0004t0010g0157 a0001c0001t0019g0155 a0001c0004t0010g0156 a0001c0004t0010g0157	3	158	0.0190	-754	c.68- others(17): Show c.68-39976_68-39223del	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EXD3_chr9_137301896_137428162	137406254	GAAAGGAA others(747): Show GAAAGGAAAAGAAAGAAAATAAAAGGCAAGGAAAAAGGAAAAAAAAAAGA AAAAGAAAAGAAAAAGAAAAAGAAAAGAAAGAAAAATGAGGCCCCTGCAC AGAACCAGGGTGGCTGGCAGCAAGTTATCTGGAGCTGAGAGCTGGGGGCT GAGTGCAGCCAGGGCGGGGTGAGCCTCGTGACACCCCCATCGCACAGGGA GGCCCTGACAGGAGGCCGCTCCACCTCTGTTTGTCTTGTCCCAAACGGCA GAGGCGACGGCTGCTCTTGGCCAACACTCCTGCCCCTGGCGTGCCCCGTG GCCGTCTGGAGGGTGGACTTGGCTTCCTGCACCAACGCACCCCTCGACCC CCAGACGGCAGCGGCATTAGTGGCGCTGATGGTGTCTGATGAGCAAATGA ATAAAGGCAGCAGGTCCCCCACCACCACCTCCATTCCCACGGGCACTCCC AGCGGCTTCTGGAAACTTCCCTGGGCTCTCAGTACTCCCCCGGCCACAGC CTCAGTGGGCGGTAGACCCTCTCCCCAGCCCTCCTCTGGGGTGTCTGTGT CCCGACCCCCACCCCAGGCCGCTCCTCAGCCCCCACCCCTCCCTTCCAGG AGTGCAGCCCGTCCCCCCTCAGCAGGCTGGGGACGGCCTTGCGCGCTGCG GGGACCCGACGGGGCAGCCCCAGCCAGGCCGTCAGGCTCCGAGAGAGGTG CGGAGCCAACACTGCCTCCCAGCGTCCCAGGGTCCTGTGACCGGGAAGGC CCCGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0003 a0029c0036t0001g0003	1	82	0.0122	-754	c.-47 others(19): Show c.-47-11604_-47-10851del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
ITGA8_chr10_15508954_15724922	15531876	CGCAGGTT others(747): Show CGCAGGTTGCAGTGAGCTGAGAGCACGCCACTGCGCTCCGACCTGGGCAA CAGGATCAAAACTCTGTCTCAAAAAGAAAAAAAAATCGTAGTATATTTCA CAGATTACACAAGACTCACAACAGGGTTTCTTGGCCTAAGCACTGTCAGC ATTCTGAGTTAGGGTGGGGGTGGGGGGGCCTGTCCTCTGCATTGTAGGAT GTTTGGCCAGCATCCCTGGCCCCTGGCTAGATGCTAATAGCACCCTCCCT CAGTTGTGACAATCAAAGATGCCGGCCGGGCGTGGTGGAATCCCAGCACT TTCGGAGGCCAAGGTGGGCAGATCACCAGGTTAGGAGTTCAAGACCAGCC TGACCAGGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCT GGGCATGGTGGCGGGTCCCTATAATCCCAGCTACTCAGGAGGCTGAGGCG GGAGAGTTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGT GCCACTGCCCTCCAGCCTGCGCAACCGAGTGAGACTCCCTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAGCCTCTAGTTACAGCCAGTTGTCCCCAGG GGAACAAAATCACCCCAGTTAAGAACCACTGACCTAGAGCCAAACAGTGT TTTTAACAGAGCTTCTCAGTGAAAGCTCTGTTTGTTTAATAGGGTCTCAT ATTAACTGTTGATAAAAGTCAATGTTAAAATATTTAAGAGTGACTCAGGA AGGCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0043 a0004c0004t0009g0043	1	220	0.0046	-754	c.288 others(18): Show c.2881-1479_2881-726del	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	27/29			chr10	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737112	ATCTGTGT others(747): Show ATCTGTGTGACCGTCCGTGTGAGCATGTGACCATCCGTGACCGTCCGTGT GAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGAGCGTGTGACCATCCGT GAGAGTGTGACCATCCATGTAAGCATCCGTGTGACCGTGTGAGCGTCCGT GTGAGCGTGTGAGCGTCCGTGTGAGTGTGACCATCCATGTGAGCATCTGT GTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGACCGTCCGTGAGTGTGT GACCGTCCGTGTGAGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGT CCGTGTGAGCGTCCGTGTGAGTGTGTGAGCGTCCGTGTGAGTGTGACCAC CCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGAGCGTGT GACCGTCCGTGTGAGTGTGTGACCATTCGTGTGAGAGTGTGACCATCCAT GTGAGCATCTGTGTGACCGTCCGTGAGCATCCGTGTGAGCGTGTGACCGT CCGTGTGTGTGACCATCCATGTGAGCATCCGTGTGACTGTCCGTGTGAGC GTCCGTGTGAGCGTGTGACCGTCCGTGTGTGACCATCCATGTGAGCATCT GTGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGACCATCCGTGTGTGT GACCATCCGTGTGAGTGACCATCCATGTGAGCATCCATGTGACCGTCCGT GTGAGCGTCCGTGTGAGCGTGACTGTCCGTGTGTGTGACCATCCATGTGA GCATC	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0236 a0001c0003t0003g0236	1	330	0.0030	-754	c.603 others(17): Show c.603-6218_603-5465del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPDYE3_chr7_100302702_100327196	100323916	ACTTTCTC others(747): Show ACTTTCTCTTTCTTTATTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTG GAGTGCAGCGGCCACCATGCTTGGCTAATTTTAGTATTTGTATTAGAGAC AGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTG ATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAGCCACC GTGCCTGGCTGACTTCTAGAGTTTCAATAACAGAGATGTGGTTCAAGAAG AAAAGGGAGACATGTTTTGTAGACAGCAGGAGCTTCATGAAAAGAAGCCA ATGAAGGGCAGGATGTGTAGCTGTCTACCTACAGGAAACCAGCCAGGAGC CTCCCCGCAGGGAGTTCAGCACAGACGGCCGGGAAAATCTGCATTAACCT GAGCTCTGGACCTAAGAGAGGACAAGGCCTTGACTGTTTCTACAGACTCA CAAGACGCAATCTCTGCGGTCCATGCCCGTGGTGTGATCTGGGAAACAGG GGGCCTTCTAAATGCCAACAACAAGGAAATCAAATGCGCAACAGACAGAA ATACCGGCATTGACGCGGGCCATGGAGAGGCCTAAACAGATGACTGCAGT CCACTGCCAAGGTCATCAAAGGGGTGACTCTGAAATAAGAAATTTCAGAC GCCACGGCCCAAATAGCTGCACGAGGTGGGGAAGTCCTCCACATGCCTCT GCTTCCTTCAGTACCTCTTCATGAAATAAGCGGAGGTACTTCCCTGGGGA ATTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	344	0.0029	-754	c.30 others(11): Show c.3072_*3825del	SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding		1721		chr7	TogoVar
CCDC65_chr12_48899133_48926576	48908386	TTACTAAG others(746): Show TTACTAAGTGTTGTATAAGTCGTCTACTTTAAAGTAGTTTTCAAAGCTAT ACCCTGCTGTCCTTTTCCACTGTCCTCCTGTAGTTGAGACCTGGGCATCA TCTCTAACCTACACTATTAGTAATAGTTTCCTGTTTTCCACCCTTCACAT TGAACTGCCTCTAGATTCTCTGCAGAACTACCAGGATTATTATTATTATT ATTATTATTATTATTATTATTATTTATTTATTTATTTTATTTTTAGACAG AGTCACCCAGGCAGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTC TGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GATTACAGGTGCATGCCACCACATCCAGCTAATTTCTGCAATTTTAGTAG AGATGGGGTCTCACCACATTGGCCAGGCTGGTCTCTAACTCCTGGCCTCA GGTGATCCACCTGCCTCGGCCTCCTAAAGTGCTGGGATTATAGGCATGAG TACCAGGATTATCTTTCTAAAGCAGAAATCTAATCCTGTCACTCCACTGT TTAAATCTTAGTGGTTCCCCCATCTACAGGAAAAAATCCAGACTCCATAG TAAAAACATCAAAGCCCTCATGATCTGGTTCCCACCTGTACTTTTCTTTC TCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCC CAGGCTGGAGTGAAATGGCGCAATCTCGGCTCACCGCAACCTCCACCTCC TGGG	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	376	0.0027	-753	c.300 others(17): Show c.300+3275_300+4027del	CCDC65	ENSG00000139537.11	transcript	ENST00000320516.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CTNNA2_chr2_79508051_80653780	80452161	TTACATTT others(746): Show TTACATTTCTTACCTGTGGTCATGAACCTAGTACATAATGCAATCAGGAT TCACAGCTAGGTTTATTTAACTTCAGAGCCTGTTTACAGCTGTTGTGATA TACTGTGGATCTCAGTTCATCCATCCATTTATTCAATCAACAAATATTCT TTGTGTCTCCTATTTGACAGGCATTGTGCTAGGTACCATAAACATGGATG AGTAACACAGATGTGATCCCTGCTTCTGATGCATTTACAGACACGTGGCT GTATTCTAGTCGGCTGTGTGCCCAATAGTTTTTAACCCAATGGTCCATAA AATTCCATCTGTTTCCTAAATCAGTCAGGTCTCATGGGGCTGATTGCCAA AATGGGAGAGGTCCTCTGGGCAGCTGTCGGTGTTCTAACGCCGCTGACAA ACTGACCAGATTCTGAGCCATATGGCAAGCCCCTGATGCTGGCTGGCATC CTCACAAATGCATGGAGCTTACAAGGGAGAAGAAAGGATGCTGGTGGCAT TGGGGGCTTCTTGCAGGTTGGGTTGGGGAAAACCAGCTTAGATAAAAAGA AATCTAGGAAAGGGTGAAATATTCAAACTATCAGCTTTGACTAGAGAAGA TTCAATTTGAGATAGAAGGGATGCTGAAATTAATGAACCTTGGTTAGCTG GTATCCCTGCAGTATGATAAGATCTATCATTTAGATCAAGGAGATTTATT CTTGGGATACAGCAAGACCTCCCAGGTTTTTGGAAAGGTATCTGATGGAA TGAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG03041.hp1 others(4): Show HG02572.hp1 HG02630.hp2 HG03041.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0001c0014 others(1): Show a0001c0001 a0001c0011 a0001c0014 a0002c0006	a0001c0001t0001 a0001c0011t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0001c0014t0001 a0002c0006t0001	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0067 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0011t0001g0051 a0001c0014t0001g0016 a0002c0006t0001g0040 a0002c0006t0001g0060	7	68	0.1029	-753	c.129 others(21): Show c.1290+32561_1290+33313del	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	9/18			chr2	TogoVar
GDPGP1_chr15_90229209_90250811	90247103	ATAGCTGA others(746): Show ATAGCTGAGACTACAGGCGTGCGCCACCATGCCCAGCTAATTTTTGTATT TTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCC TGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGC CATGAGTCACCACACTGGCCTTTTTTTTCTTTTCTTTTCTTTTTTCTTTT TTTTTTTTTTTTAAGAGAGAGAGTCTCGCTGTATTGCCCAGCCTGGTCTC AAACTCCTGGCCTCCAGTAATCCTCCTGCCTCAGCTTCCCAAGGTGCTGG GATTAGCGATGTAGGCTGCCACTCCTAGCCAGGAGGAGAGTTTCATATGA GAGTATCATATGCTGAGGAAAGATCAAGAAGTCTGTGAATCGGGCAGCCC ATTTCTCCATCAGCCAGGAAGGACATTGGTGTTGAGGTTGACATACCTAT CAAGGACAATAACTACCATGGCTTCCAGTGTTTTGATGAAACCTCAGATG CATGACCTCTGGTTTCACATTGCTGTATCCCTGTATAGAGGGTTGTAGCA CTCTATACATTTGCTGTGGCTGAACCGGGAAAGAAGGCATATGCAGATTT CTAGAGAAATTATAATTCCATCAAAGATTTTTTTGTTTGCTTTTTTTTTT TGAGACAGAGACTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCCGTTCACTGCAAGCTCCGGATTCACACCATTCTCCTGCCTCAGCCTTC CAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02630.hp2 others(7): Show HG02109.hp2 HG02572.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0039 a0001c0001t0075 others(3): Show a0001c0001t0018 a0001c0001t0039 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079	a0001c0001t0018g0002 a0001c0001t0039g0002 a0001c0001t0039g0030 others(4): Show a0001c0001t0018g0002 a0001c0001t0039g0002 a0001c0001t0039g0030 a0001c0001t0075g0011 a0001c0001t0077g0002 a0001c0001t0078g0002 a0001c0001t0079g0002	10	438	0.0228	-753	c.50 others(11): Show c.5038_*5790del	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		1293		chr15	TogoVar
MINPP1_chr10_87499893_87558461	87516040	GCTGGTCT others(746): Show GCTGGTCTCGAACTCCTGAACTCAAGTGATCCGCCCGCCTCACCCTCCCA AAGTGCTGGGTTTACAGGTGTGAGCCACCGCACCTGGCCAAGAATGTTTT TTACAATTAAAAATTAATAGACATTTATGAAATTCTGAGATAATTAGATA TCCTGGACTTTGTGTACCTTCAGCAAGCATTTTTTGAGTTTCCGTTCTGT GACAAGCACTTGCTTGGAACTAAAGACACTAACATAAGATAGATATTGTC CTCAAAGAATGCCACAAGGAATGAAAGACATGTAACTAAACCATTGCAAG ACAATAGGATGTCTATACAGTGATAGAAGTATACTCAGATGCTCCTTAAG TTATGGTGGGGTTGCATCCAGATAAACCCATGGTAGATTGAATATCTTAA GTTGGAAGTACATTTACGACTTACAATGGATTTATCCAGACATAGCCTCG TTGTAAGTCAAGGAGCGCACTGAAAGTGTATTGCTTTTGAACCATTGTAA AGTTGAAAAATTTTAAGTCAAACCATCATAAGTTGCAGACTGCCCATGAA AGGTGTAGTGGGGCACAAAGGAGAAAGTTAATTTGTAGGATAGCTTTTTT GCAATTTGTGTCTGCTTTAATAAGTATATCTAGATTTTCTCTCTCCTGGG ATTAGTTTTGGTATTTAATATACCTATAAAAGTCATTTATGTTATCCATT ATTTGCTGAATTAAGCAAATATATCTTTTGATTTTAAAAAGTGTTTTCCT TCTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(134): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02293.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0002c0007 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0006t0001 a0002c0007t0001 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0151 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0290 a0001c0001t0002g0298 a0001c0001t0002g0302 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0005t0001g0010 a0001c0006t0001g0262 a0002c0007t0001g0039 a0004c0003t0001g0288	137	412	0.3325	-753	c.933 others(17): Show c.933+2820_933+3572del	MINPP1	ENSG00000107789.16	transcript	ENST00000371996.9	protein_coding	3/4			chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87626018	ATATATAG others(746): Show ATATATAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCATTCTGTCGCCC AGGCTGAGACATATATATATATATATATATATTGTCATATATATGTGTCA TATATATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCA TATATATTGTCATATATATGTGTCATATATATGTCATATATATGTGTCAT ATATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATAT ATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCGTATAT GTGTCATATATATGTGTCGTATATGTGTCATATATATGTGTCATATATAT GTGTCATATGTATGTGTCATATATATGTGTCATATGTATGTGTCATATAT ATGTGTCATATGTATGTGTCATATATGTGTCATATATATGTGTCATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTCATATATATGTCATAT ATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18963.hp1 NA19062.hp1 HG00423.hp1 NA18963.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0023 a0001c0001t0027 a0001c0001t0012 a0001c0001t0023 a0001c0001t0027	a0001c0001t0012g0152 a0001c0001t0023g0039 a0001c0001t0027g0154 a0001c0001t0012g0152 a0001c0001t0023g0039 a0001c0001t0027g0154	3	202	0.0149	-753	c.-28 others(11): Show c.-2805_-2053del	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2379		chr7	TogoVar
TRARG1_chr17_1274662_1305978	1276948	CCAACATG others(746): Show CCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGTGCATGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCCGGAG AATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCTTGGTGACAGAGCGAGATTCTGTCTCAAAAAAAAATTT TTTTAATTTTCTACTAGGCACATTTTTAGAACGTAAAAATAAGCAGATGA AATCAATAATGTTGATTTTAATAACGTTTTATTTATCCCAATATATCCAA AATATTATCCTTTCAATATACAATCAATAAAAAGTATTAATGAGATATTT TCCATTCTTTTTGTGTTTGGACCCAGTTTTCGATGTCTTGTGTGTATTTT ACATCTCAACTTGGATGAGTCACATTTCAAGGGCTCGGAAGCCACATGTG GCTAGGGGCTACCGAATTGGGCTGGGTAGCTGTCGTCCCTCCACCCAGGG GTCAGCTCCAAGGCTGTACCATGGCATTCTGCCCAACTGGATACCGGCTT GGAGCCTAAGGGGTCTCAGGGACCCACCTAGCCACCCTGTGAAGGAGCTT TCCTGTTATACAGGATTATCGTATTTCTGGACGCTCATAAGCAGGGGAGC CCAGCTCGCTCCCAGGCCCCACACCTGGCCTCCCTGAGGACTGAGAGGAG GACGAGGCGGCTCCCCAAGGTCTTCATTTTGCAAATAACAATGGGTTTCC TTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	402	0.0025	-753	c.-30 others(11): Show c.-3053_-2301del	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2713		chr17	TogoVar
TTLL13_chr15_90244556_90270477	90247103	ATAGCTGA others(746): Show ATAGCTGAGACTACAGGCGTGCGCCACCATGCCCAGCTAATTTTTGTATT TTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCC TGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGC CATGAGTCACCACACTGGCCTTTTTTTTCTTTTCTTTTCTTTTTTCTTTT TTTTTTTTTTTTAAGAGAGAGAGTCTCGCTGTATTGCCCAGCCTGGTCTC AAACTCCTGGCCTCCAGTAATCCTCCTGCCTCAGCTTCCCAAGGTGCTGG GATTAGCGATGTAGGCTGCCACTCCTAGCCAGGAGGAGAGTTTCATATGA GAGTATCATATGCTGAGGAAAGATCAAGAAGTCTGTGAATCGGGCAGCCC ATTTCTCCATCAGCCAGGAAGGACATTGGTGTTGAGGTTGACATACCTAT CAAGGACAATAACTACCATGGCTTCCAGTGTTTTGATGAAACCTCAGATG CATGACCTCTGGTTTCACATTGCTGTATCCCTGTATAGAGGGTTGTAGCA CTCTATACATTTGCTGTGGCTGAACCGGGAAAGAAGGCATATGCAGATTT CTAGAGAAATTATAATTCCATCAAAGATTTTTTTGTTTGCTTTTTTTTTT TGAGACAGAGACTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCCGTTCACTGCAAGCTCCGGATTCACACCATTCTCCTGCCTCAGCCTTC CAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02630.hp2 others(7): Show HG02109.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp2 HG03579.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0043 a0003c0003t0005g0201 a0003c0003t0005g0202 others(6): Show a0003c0003t0005g0043 a0003c0003t0005g0201 a0003c0003t0005g0202 a0003c0003t0005g0213 a0003c0003t0005g0214 a0003c0003t0005g0215 a0003c0003t0005g0225 a0003c0003t0005g0226 a0003c0003t0005g0234	10	432	0.0232	-753	c.-27 others(11): Show c.-2716_-1964del	TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding		2452		chr15	TogoVar
A4GALT_chr22_42687121_42725870	42705440	GAAAATAC others(745): Show GAAAATACAAAAAATTAGCTGGGCATGGTGGCGCGTGCCTGTAGTCCCAG CTACTTGGGAGGCCAAGGCAGGAGAATCATTTGAACCCAGGAGGTAGAGG CTGTGGTGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGCGACAGAGA TTCTGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAAGAAAAT ACTGGCACAAGACAAATACAAATTCGAATCCAAAATTACAGCATGAATTT AAAAATAAAAACACTTTAAAAAGTAATTCCAGGCCAGGTGCGGTGGCTCA CACCTGTAATCCCAGCACTTTAATAGGCCGAGGCTGGCAGATCGTTTGAG GTCTGGAGTTGGAGACCAGCCTGCCCAACAAGGTGAAACCCCATCTCCAT TAAAAATACAAAAATTACAGCCCGACCAATATGGTGAAACCCTGTATCTA CTAAAAATACGAAAATTAGCCAGGCGTGGTAATGTGTGCCTGTCATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTGGAG GTTGCAATGAGTCAAGATCGCACCACTGCACTCCAGCCTGGGTGACACAG ACTACATCTCAAAAAAAAAAAAAAAAAAAAAGTTGGCCGGGTGCGGTGGC TCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTA CTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18988.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp2 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0003c0004 a0006c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0011t0004 a0002c0003t0008 a0003c0004t0006 a0006c0013t0008	a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 others(111): Show a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0007g0017 a0001c0001t0007g0027 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0039 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0050 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0016g0056 a0001c0001t0016g0072 a0001c0001t0020g0026 a0001c0001t0022g0214 a0001c0002t0003g0001 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0025 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0049 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0004g0094 a0001c0002t0005g0089 a0001c0002t0005g0093 a0001c0002t0005g0096 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0099 a0001c0002t0005g0108 a0001c0002t0005g0109 a0001c0002t0005g0112 a0001c0002t0006g0004 a0001c0002t0006g0211 a0001c0002t0006g0221 a0001c0002t0006g0222 a0001c0002t0009g0117 a0001c0002t0012g0016 a0001c0002t0012g0022 a0001c0002t0012g0024 a0001c0002t0014g0023 a0001c0002t0014g0040 a0001c0002t0015g0018 a0001c0002t0015g0051 a0001c0011t0004g0294 a0002c0003t0008g0011 a0002c0003t0008g0041 a0002c0003t0008g0042 a0002c0003t0008g0048 a0002c0003t0008g0077 a0003c0004t0006g0223 a0003c0004t0006g0224 a0003c0004t0006g0225 a0003c0004t0006g0226 a0003c0004t0006g0227 a0003c0004t0006g0228 a0006c0013t0008g0052	116	406	0.2857	-752	c.-18 others(20): Show c.-187-10561_-187-9810del	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
ATP10A_chr15_25673712_25868327	25757973	ACTCATTC others(745): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGATCCACCCTAACTCATTC CAATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19010.hp1 HG02135.hp2 NA19010.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0078 a0004c0004t0001g0083 a0003c0003t0001g0078 a0004c0004t0001g0083	2	300	0.0067	-752	c.654 others(19): Show c.654+22294_655-21833del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757984	TCACCTGC others(745): Show TCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGATCCACCCTAACTCATTCCAATCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATC ACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCC GAC	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	300	0.0033	-752	c.654 others(19): Show c.654+22283_655-21844del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
GALNT9_chr12_132191372_132334589	132304431	CCTCGCCC others(745): Show CCTCGCCCGGGCACACCCTCGCCCGGGCACAGCCTCGCCCGGGCACACGC TCACCCAGACACACCCTTGCCCGGGCACACCCTCGCCCGGACACACCCTC ACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGC CCGGACACGCCCTCACCCGGGCACAGCCTCACCCGGGCACAGCCTCACCG GGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGCCTCGCCCGG GCACACCCTCGCCCAGACACACCCTCACCTGGGCACAGCCTCACCGGGGC ACACCCTCACCCAGACACAGCCTCGCCCGGGCACACCCTCACCCGGGCAC ACCCTCGCCCAGACACACCCTCACCTGGGCACACCCTCGCCCGGGCACAC CCTCGCCCGGGCACACCCTCACCCGGGCACAGAATCGCCCAGACACACCC TCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTC ACCCAGACACGCCCTCACCCAGACACGCCCTCACCCGGGCACACCCTCAC CCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCACACCCTCACCC AGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCTGG GCACACCCTCACCCGGGCACAGCCTCACCCAGACACGCCCTCACCCGGGC ACAGCCTCGCCCGGGCACACCCTCGCCTGGGCACAGCCTCGCCCGGGCAC ACG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(27): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00609.hp2 HG01106.hp2 HG01346.hp2 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG02027.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02717.hp1 HG03225.hp2 HG03453.hp1 HG03492.hp2 HG03579.hp1 NA18906.hp2 NA18945.hp2 NA18980.hp2 NA18999.hp1 NA19002.hp1 NA19012.hp2 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0001c0029 a0001c0038	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0010 a0001c0011t0001 a0001c0013t0004 a0001c0029t0003 a0001c0038t0001	a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0042 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0064 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0002t0001g0034 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0152 a0001c0003t0001g0041 a0001c0003t0001g0103 a0001c0003t0001g0137 a0001c0005t0001g0037 a0001c0005t0001g0088 a0001c0006t0001g0073 a0001c0007t0001g0104 a0001c0007t0010g0108 a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0013t0004g0036 a0001c0029t0003g0107 a0001c0038t0001g0046	30	183	0.1639	-752	c.239 others(19): Show c.239-18753_239-18002del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GRID2_chr4_92298966_93779566	92439606	TGGGGATG others(745): Show TGGGGATGTAAGAAGAAACATTTGTCGTATAGAATGATTGGTGATGGCCT GGATACGGTTTTGTGCGAATTGAAAAACTAAATGGAATAACAGAAGGAGA AAAACAGGCATAAAAGGTTTAAGAATTGGGATGACTCAGGACATCTGATG AGAGAGTGCCTAAGGAGATTCAGCATAGTCCTGCCAGCAAAGATTATTTA TTTACTTCAAGAGTTAAGAGTGGCAGTTTGGGGATAGCACCAGGAGATAT CAGCTGTGATGGCTTGGAGAAACAGTGTAAACCGGCAGTGTAAACAAGAG CAGGGCATGTATGAGTAGTTGAGAACGGTGAATAGGAGTATGACTAGACA GAAGATAGTAGGGATGACAAGTTTTTTGGGGGCACAGTCTAAGTTGGTCT GGTGTCAAATGAGACTGGGGCCTAATAAAAAGGAGCATCTGTACAGGAGC TTAAATGGGCTGTACCCTGTAGCATTCCGAGGACAGGCCTGAATTCTGAG AAACGAAAGTGGTAAAAGTATTGTCCAGTCCTTTTTAAGTTGGTGGCTGA GCTTGGTGAGGTGTGTTTTTAAAAGACCTTTAGTCCGTTCTACTTTTCTT GAAGACGGAGGACCTTAAGGGATATAAAGGTTTCACTGAATACTAAGAGC CTGAAAAACTGCTTGGCTGATTTGACTAATAAAGGCTGGTCTATTATCAG ACTGTATTGAGGTGGGAAGGCTAAACTGAGGAATTATGTCTGACAGAAGG GAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18942.hp2 HG01978.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0020 a0001c0002t0001g0026 a0001c0001t0006g0020 a0001c0002t0001g0026	2	34	0.0588	-752	c.88+ others(19): Show c.88+134864_88+135615del	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
TCF3_chr19_1604292_1657615	1628083	ACGGGGGT others(745): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAA GGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGC GGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGA GCT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0052 a0001c0005t0052	a0001c0005t0052g0205 a0001c0005t0052g0205	1	352	0.0028	-752	c.299 others(16): Show c.299-1409_299-658del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
UBAP1_chr9_34174043_34257523	34181521	CTCCCGCG others(745): Show CTCCCGCGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAC TACGGGCTCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGGGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGTGCCAGGCCTTTTTTTTTTTTTTTTTAATGAAGGCAAAGGAAAAAAAT TAAACTCTGTAAATATGAAAACTTCTTCAGTTTCTTTCGTTTAGTATTTA AGACTGATTTCCTAATCATGGCATTTCTTCTGTGTATTCTTCTGAAATAT TTTTTCATTTTGATTTTGAAGACAGAGTATTCTGAAAAGATAATAATAGA TCTGTAGACAAGTCTCATCAATGATTGTTAGTGCATTTTTTAATTAAAAT TTTTTTTTTTGTAGAGAAGGGGTCTCTTATGTTGCCCAGTCTGATTTTGA ACTCCTGAGCTCAAGTGATCCTCCCACCACAGCCTCCCAAACTGCTGGGA GGCATGAGCAGCTAGTGCACGTATTTTTGACTGGTGAATGTCACATTATT TGGTGTATCTTTTAACTATGGTATTTAAGGATCCCTGACGTTTATTTATT TATTTATTTATTTATTTATTTATTTATTTATTGAGACTGAGTCTCGCACT GTTGCCCAGGCTGGAGTGCTGTGGCGTGATCTCAGCTCACTGCAACCTCC ATT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00621.hp2 others(48): Show HG00423.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02132.hp2 HG02165.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02809.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04184.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp2 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18998.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19087.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0005t0002	a0001c0001t0002g0163 a0001c0001t0002g0214 a0001c0001t0002g0215 others(48): Show a0001c0001t0002g0163 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0265 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0160 a0001c0001t0005g0162 a0001c0001t0006g0161 a0001c0001t0009g0249 a0001c0001t0013g0231 a0001c0005t0002g0254	51	342	0.1491	-752	c.-8+ others(15): Show c.-8+2286_-8+3037del	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
AHRR_chr5_316714_443285	391438	CGGGCGCA others(744): Show CGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGC GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGG CGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGC GCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCG CAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGC AGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCA GGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAG GGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCA GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGG CGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCG AGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGA GGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAG GA	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0007	a0004c0003t0007g0235 a0004c0003t0007g0235	1	268	0.0037	-751	c.351 others(19): Show c.351+14759_351+15509del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKP3_chr11_389209_409908	398025	GCGTCACC others(744): Show GCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGT ACCCCTGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCC CGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	216	0.0046	-751	c.106 others(17): Show c.1068+432_1069-148del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF516_chr18_76352682_76500242	76393135	GGGGAAGG others(744): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CC	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0283	1	346	0.0029	-751	c.181 others(21): Show c.1811-13583_1811-12833del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
C1orf159_chr1_1076823_1121089	1077299	GCCGGGAG others(743): Show GCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACG GGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATG GGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGC TGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGC TGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	326	0.0031	-750	c.48 others(11): Show c.4844_*5593del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4523		chr1	TogoVar
CCDC200_chr17_43216420_43233623	43232873	CCCCAGTG others(743): Show CCCCAGTGCCTGGGAAGGCACCCGTTACTTAGCAGAATTACTACGCAGCC ATAAAAAAGGATGAGTTCATGACCTCTGCGGGAACGTGGAGGGAGGAAAA GGCCTCATTCTCAGCAAACTGACACAGGAAGCGAAAACAAACACCGCATG TTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGAACACATGGGACACAGGG AGGGGAACATCACACGCCGGGCCCTGACGGGGCGTGGGGGGCAAGGGGAG AGAGAGCATTAGGACAAATAGCCAACGCATGCGGGGCTTCAAACCTAGAC GACTGGTGGATAGGTGCAGCAAAGCACCGTGGCACACGTGTACCTATGTT CCAAACCTGCACGTCCTGCACATGTACCCCAGAACTTGGGAGGGGGTGGG GGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGAGAGAGAGA GGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAC AGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGACGGAGAGACAG AGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG ACAGGAGAAAGAAGAACTCCGGGTGGGTCCCATTCCTTTAAAAGGTCGCC ACCCACTCGACTGCCAAGCTGAGATCCTAAGGACCTCCCCAAAGGAGGAG GTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAAACGACAGCGTGCC G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	334	0.0030	-750	c.-50 others(11): Show c.-5069_-4320del	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		4251		chr17	TogoVar
CDH4_chr20_61247261_61945617	61783847	AAGGCCCT others(743): Show AAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCT TGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTA AGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCC CAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGT GTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTC AAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCT TGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTA AGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCC CAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGT GTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTC AAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTC GGGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTA ATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCC CAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGT GTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTC C	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0089 a0001c0001t0031g0089	1	106	0.0094	-750	c.576 others(19): Show c.576+10674_576+11423del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CROCC2_chr2_240901336_240998311	240907943	CGGGTGAC others(743): Show CGGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CAGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGCGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCT CGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT CGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT G	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00738.hp2 others(52): Show HG00099.hp2 HG00140.hp2 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01981.hp1 HG02148.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18944.hp2 NA18951.hp1 NA18953.hp2 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18995.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19065.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0019 a0020 a0022 a0025 a0033 a0036 a0058 a0059 a0060 a0061 a0063	a0001c0001 a0002c0002 a0003c0003 others(17): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0007c0006 a0010c0009 a0011c0079 a0019c0015 a0020c0028 a0020c0029 a0022c0038 a0025c0018 a0033c0081 a0036c0085 a0058c0027 a0059c0030 a0060c0093 a0061c0094 a0063c0025	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0005c0005t0003 a0007c0006t0001 a0007c0006t0003 a0010c0009t0001 a0011c0079t0001 a0019c0015t0001 a0020c0028t0001 a0020c0029t0001 a0022c0038t0001 a0025c0018t0003 a0033c0081t0001 a0036c0085t0003 a0058c0027t0003 a0059c0030t0001 a0060c0093t0001 a0061c0094t0001 a0063c0025t0001	a0001c0001t0001g0058 a0001c0001t0003g0064 a0002c0002t0001g0057 others(52): Show a0001c0001t0001g0058 a0001c0001t0003g0064 a0002c0002t0001g0057 a0002c0002t0001g0060 a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0029 a0003c0003t0001g0033 a0003c0003t0001g0035 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0047 a0003c0003t0001g0049 a0004c0004t0001g0007 a0004c0004t0001g0008 a0004c0004t0001g0009 a0004c0004t0001g0010 a0004c0004t0001g0024 a0004c0004t0001g0030 a0004c0004t0001g0031 a0004c0004t0001g0034 a0004c0004t0001g0038 a0004c0004t0001g0042 a0004c0004t0001g0061 a0004c0004t0001g0062 a0005c0005t0001g0016 a0005c0005t0001g0017 a0005c0005t0001g0036 a0005c0005t0003g0023 a0005c0005t0003g0044 a0005c0005t0003g0059 a0007c0006t0001g0013 a0007c0006t0001g0055 a0007c0006t0003g0097 a0010c0009t0001g0051 a0010c0009t0001g0056 a0011c0079t0001g0018 a0019c0015t0001g0014 a0020c0028t0001g0027 a0020c0029t0001g0012 a0022c0038t0001g0050 a0025c0018t0003g0052 a0033c0081t0001g0048 a0036c0085t0003g0032 a0058c0027t0003g0026 a0059c0030t0001g0025 a0060c0093t0001g0054 a0061c0094t0001g0053 a0063c0025t0001g0022	55	350	0.1571	-750	c.78+ others(15): Show c.78+1702_78+2451del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DOC2B_chr17_137789_186650	170765	AGGCCAGG others(743): Show AGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG CAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGG CTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGG CTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCA GGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGC AGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCA GGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCT GCAGAGGGCGGCACCAGGGGCCGGGCCAGGTTGCAGAGGGGAGCACCAGG GGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAG AGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGG CCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAG GGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCC G	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02109.hp2 HG01257.hp2 HG01258.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0216 a0001c0001t0002g0247 a0001c0001t0002g0248	3	339	0.0089	-750	c.453 others(17): Show c.453+1022_453+1771del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	171140	AGCACCAG others(743): Show AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGG CCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGG AGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCGGCACCAGGGGCCGGG CCAGGTTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAG GCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCA CCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGC TGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACC AGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTG CAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAG GGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCA GAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGC CGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGA GGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCG GGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGG G	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0024 a0001c0002t0023 a0001c0002t0024	a0001c0002t0023g0272 a0001c0002t0024g0273 a0001c0002t0023g0272 a0001c0002t0024g0273	2	339	0.0059	-750	c.453 others(16): Show c.453+647_453+1396del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
EXOC2_chr6_480154_698139	519116	AAACCACC others(743): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACTGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA G	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0226 a0001c0003t0002g0226	1	272	0.0037	-750	c.238 others(21): Show c.2380+12603_2380+13352del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
PRUNE2_chr9_76606376_76911114	76782489	GACAACTA others(743): Show GACAACTACAGCATCTTCTTTACAGAGTTCTTCTAAAAATTAAATGAGTT AATTTTTGTAAAATCCTTCAAAGAGTCCCAGCCATATGTTAAGTTCCATG TAAATACTTTGCTAATAAAAATAAAATTTTGGAGTTATAAGCGCAGAGTT TCTTGGATAATACTGTTCTATGTCCTAAGGAATTACAACACATATACTTA GTGTTTCAATGAACACCAAGATAAATAAGTGAAGAGCTAGTCCGCTGTGA GTCTCCTCAGTGACACAGGGCTGGATCACCATCGACGGCACTTTCTGAGT ACTCAGTGCAGCAAAGAAAGACTACAGACATCTCAATGGCAGGGGTGAGT TACATGGTAGAACGAAGAATAGACCAGAAGCCAGAAGTGCTGGCCTTTAA CCATATACCTGCTATTCGCTAGCTGTGTACCCTCTGCAAATGTCCTGGGT CTTAGATTGGTGTCTATGAATTAGACAATCTTTAAGATCTCTTCTAGCCT CCCCCATGTTACGTGTCATTTTCCTTAGGTTTCTTTTAAAGTGCCCAAAA CAGTCCACATAGTAGGTATTGTGGTGATTAAACAGAAAGGCACTGAACCA CAAAGCAGACACTTGATTAACATCAGTTGTATCTGACTATGCCTTTTTTT GTTTGTTTGTTTTTTGGAAACAGAGTTCCACTCTGTCGCCCAGGTTCGAG TGCAATGGCACAATTACAGCTCACTGCAACCTCCGCCTCCCATGTTCCAG C	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0062 a0004c0004t0001g0062	1	240	0.0042	-750	c.756 others(19): Show c.756+40393_756+41142del	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
RNF223_chr1_1065967_1079306	1077299	GCCGGGAG others(743): Show GCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACG GGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATG GGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGC TGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGC TGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG06807.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0007g0012 a0001c0001t0001g0011 a0001c0001t0007g0012	2	324	0.0062	-750	c.-40 others(11): Show c.-4043_-3294del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2994		chr1	TogoVar
VGLL4_chr3_11551069_11648915	11604277	CATTTGAT others(743): Show CATTTGATGGATGACGAAGCTGTGCCCCAAAACATAGCGTGACTTACCCA AGATCCTCCAGTTAACAGGTTAGCTGGAGGCAAGAACCCATGGCCTCTGC AATCAGACAACGCCTCATCCTAAGACTGTGCAGCCTCACACAAGGCTTAC AGCAAAGGAAAAGAATCCGCACATAAGGTCAGGGACAGGTCCGTTCAGTT ATGTGCCTTTATGCATCTTTGGGGCCCCTCCCTAGATGGCCTTAACCCAA CACTTGTATGTTAGACAAGAGTGGTAACTGTTGTATGTGTGGTGGGGTTA AAATTATTTTTGTAAAACTGAAGCAGACATTTGTTCTGGGAGATAAGACA CTTGCATTGCAATCTTGACTCCTCCTTTATTTAGGATGGGGTGAATTTGG GCACGTGCTTCCCCTCTCTGGGCCTCCCTCCATACAACAAGGGGCTGGAC TAGCTAATGTGTCATGTTCTTTCCAGCTCTTAGAATTACTGATGCAATTC TATGATCAACAAGTGACCAACCAACTAACCAACATTTACAAAGAAATTGC TACTTGTGTAATGGTGAACTAAGACAGCAAAACTCAAGGTATGTACCTCA GATGTTATTCATCGAAAAAAACAAGGGTGACCCTGGGGTCAAATAAATTT GGAAACCGTGAGATTGAACAACTTTTACAGGAGTTTAACTACAGGCCTTT CTGTCTTCTAATGCATCTCAGTCTCTGAGATGGAAACCCCGCAGGGCTGC T	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0210 a0001c0002t0017g0210	1	388	0.0026	-750	c.83- others(15): Show c.83-3005_83-2256del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
AKR1C1_chr10_4958415_4988283	4959901	ATTTATTT others(742): Show ATTTATTTATTTATTTATTTTTAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCCCCTCCCCCCACACCACAACAGGCCCCGGTG TGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCAC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTTTGTCCTTGCGATAGTTT GCTGAAAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACGTGA ACTCATCATTTTTTATGACTGCATAGTATTCCATGGTGTATATGTGCCAC ATTTTCTTAATCCAGTCTATCGTTGTTGGTCTTTTAGGTTGGTTCCAAGT CTTTGCTATTGTGAATAGTGCTGCAATAAACATACGTGTGCATGTGTCTT TATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATG GCTGGGTCAAATGGTATTTCTAGTTCAAGATCCCTGAGGAATCACCACAC TGACTTCCACAATGGTTGAACTAGTTAACAGTCCCACCAACAGTGTAAAA GTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCTTGACTTT TTAATGATCGCCATTCTAACTGGTGTGAGATATTTTTTTTTGGGAGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp2 others(24): Show HG00280.hp2 HG00323.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01175.hp2 HG01258.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02083.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18954.hp2 NA18974.hp2 NA19005.hp2 NA19065.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 others(7): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0032 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0010t0082	a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0096 others(13): Show a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0013g0036 a0001c0001t0013g0037 a0001c0001t0016g0004 a0001c0001t0032g0004 a0001c0001t0073g0004 a0001c0001t0074g0004 a0001c0001t0076g0004 a0001c0001t0079g0004 a0001c0001t0080g0004 a0001c0010t0082g0010	27	426	0.0634	-749	c.-35 others(11): Show c.-3543_-2795del	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding		3513		chr10	TogoVar
CDH4_chr20_61247261_61945617	61783878	AAATGTAA others(742): Show AAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCT GTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCC CTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACA GTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCA GTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAG AAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCT GTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCC CTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACA GTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCA GTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAG AATGTAATCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGATGTCCTG TGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCC CTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACA GTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCA GTTCCTCGGGACAGTTCTCCAGGCCCTCCGATATCCTGTGCCCCCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18906.hp1 NA18906.hp2 HG02647.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0002 a0002c0016 a0001c0012 a0002c0002 a0002c0016	a0001c0012t0001 a0002c0002t0005 a0002c0016t0004 a0001c0012t0001 a0002c0002t0005 a0002c0016t0004	a0001c0012t0001g0008 a0002c0002t0005g0096 a0002c0016t0004g0042 a0001c0012t0001g0008 a0002c0002t0005g0096 a0002c0016t0004g0042	3	106	0.0283	-749	c.576 others(19): Show c.576+10704_576+11452del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAD21L1_chr20_1221044_1260876	1258659	TTCCCTCT others(742): Show TTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTT TCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACAC ATAAAGCTCTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCTAA TATAAACACATAAAGCTCTTGTTTCCTTCTTGGTAACTGGTTTGAGATCT TCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAAC TGATTTGGGATCATCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTT CCTTCTTGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACA TAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTC TAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGAT CTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTA ACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGC TTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCTAATATAAACACATA AAGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTATA ATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0037 a0002c0002t0003g0037	1	364	0.0028	-749	c.42 others(11): Show c.4203_*4951del	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2784		chr20	TogoVar
SNTG2_chr2_945849_1372613	1094082	ATGGTAGA others(742): Show ATGGTAGAGTTACTGGCAAAGGGCTGCCTTCCTGGCTTGCAGGCGAAGGC CTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTCC TGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTAC TGGCAAGGGCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTC CTCATATGGTAGAGTTACTGGCAAGGGCCGGCTTCCTGGACTGCAGGCGA AGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGC TTCCTGGACTGCAGGCGAAGGCCTTGTAGGTGTGTCCTCATATGGTAGAG TTACTGGCAAGGGCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTG TGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGCAG GCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGC CGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGT AGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATA GGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACT GCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAA GGGCCAGCTTACTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0094 a0006c0009t0001g0094	1	190	0.0053	-749	c.211 others(17): Show c.211-4095_211-3347del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM7_chr5_181188924_181210196	181208672	TGGCGCGG others(742): Show TGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCATGAGATCGAGACCATCCTGGCTAACACGGTGAA ACCCCGTTTCTACTGAAAAAAAAATACAAAAAATTAGCCGGGGGTGGCGG GCGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAACTTGCAGTGAGCCAAGATCGCACCACTGCACTCCA GCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAATTAAATTAAATTTAAA AAAAACATCTTTCGGCCGGGCCCAGTGGCTCACGCCTGTAATCTCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCGAGATTA GCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAACATTAG CCGGGCGTGGTGGCACGCGCCTGTAATCCCGGCTACTCGGGAGGCGGAGG TTGCAGTGAGACGCGATTGCGTCACTGCACTCCAGCCTGGGCGACAGAGC AAGATTCCGTCTAAAAAAAAAAAATTAAAAAATACAAACGGGCCTTGTGG TGGACGCCTATAATCGCAGCTACTCGGGAGTCTGAGGCAGGAGAATCACT TGAACCCAGGAGGCAGAGGTTGTAGTGAGCTGAGATGGCGCCACTGCACT CCAGCCTGGCGGACAGAGCGAGATTCCGTCTCAAAAAAAAAAAAAAGCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0010 a0007c0012t0001g0010	1	394	0.0025	-749	c.-43 others(11): Show c.-4311_-3563del	TRIM7	ENSG00000146054.18	transcript	ENST00000274773.12	protein_coding		3477		chr5	TogoVar
ZNF573_chr19_37733302_37784586	37783837	GCCTCCCG others(742): Show GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGG ACTATAGGTGCGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAATAG AGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCA TGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCC ACCACACCTAGCTGGTGTACTGTTTTAATGGAATGCAGAATCGATGCTAA ATGTGAATATTAAATACTTAATATTGAGTAATAGAAGCCAGATGCAGCAG GATACAGACTATTACTCCAATTATGTAAGAGAGAAACCAGGCAAAATCAG ACTATACTTTAGGCATATAAAAAATACATAATAAGGCTGGGATTCATGCT AAATGAGTAGATTTTAGCTTCCCTTGCCACACGCAAACAATGTGGGTATC TGTGAGATGATAGAGATGTTAATTTGCTTCACTATAGTAACCCCTTTATA CTATGTATATGTATCCTATAACATCATGTTGTGTACCTTAAATATATAGA ATAAAATACATTTAAAAAAAGAAAAAGTTTTGGCTGGGTGTGGTGGCCCA TGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGAGGATTGCTTGAG CCCAGGAGTTCAGGAACAGCCTGGGCAACATAGTGAGACCCCATCGCTAT CAAAAAAGAAAAAGAGGCCAGGCGTGATGGCTCATGCCTATAATCCCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	350	0.0029	-749	c.-50 others(11): Show c.-5065_-4317del	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding		4252		chr19	TogoVar
AFDN_chr6_167821911_167977023	167940707	ATGTGTGG others(741): Show ATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCA CAGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAAC CATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAGCCATCCACAGGAGACATATGGACAGACACAGAGAGATGTAGGG GTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGG ATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGAC ACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGT GGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAG AGATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCA CAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGA GGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAG GGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAG GGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAG ACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	326	0.0031	-748	c.310 others(19): Show c.3100-2417_3100-1670del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKR1C1_chr10_4958415_4988283	4959900	TATTTATT others(741): Show TATTTATTTATTTATTTATTTTTAATTTTATTATTATTATACTTTAAGTT TTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTG CCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATAT CTCCTAATGCTATCCCTCCCCCCTCCCCCCACACCACAACAGGCCCCGGT GTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCA CTATGAGTGAGAACATGTGGTGTTTGGTTTTTTTTGTCCTTGCGATAGTT TGCTGAAAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACGTG AACTCATCATTTTTTATGACTGCATAGTATTCCATGGTGTATATGTGCCA CATTTTCTTAATCCAGTCTATCGTTGTTGGTCTTTTAGGTTGGTTCCAAG TCTTTGCTATTGTGAATAGTGCTGCAATAAACATACGTGTGCATGTGTCT TTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGAT GGCTGGGTCAAATGGTATTTCTAGTTCAAGATCCCTGAGGAATCACCACA CTGACTTCCACAATGGTTGAACTAGTTAACAGTCCCACCAACAGTGTAAA AGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCTTGACTT TTTAATGATCGCCATTCTAACTGGTGTGAGATATTTTTTTTTGGGAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 NA19074.hp2 HG01074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0167 a0001c0001t0004 a0001c0001t0167	a0001c0001t0004g0018 a0001c0001t0167g0092 a0001c0001t0004g0018 a0001c0001t0167g0092	2	426	0.0047	-748	c.-35 others(11): Show c.-3544_-2797del	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding		3514		chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2713556	TCCCATCC others(741): Show TCCCATCCCTCACTTCCTCCACGCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTC CTCCACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACAC CCATCACCTCCTCCACCCTTCACACCATCCCTCACTTCCTACACCCACCA CTTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCT CCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCACCACCTTCTCAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	412	0.0024	-748	c.29 others(11): Show c.2906_*3653del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1010		chr19	TogoVar
DPP6_chr7_154047398_154899285	154057183	GTTTGAGG others(741): Show GTTTGAGGGCCTTGGCAGCAACTGCCCAGCTAGTACAAGAAGCAAAAAAG CTGACTCTTGGGCAAAACCTGAACATAAAGGCCTCCCATTTCGTGGTGGT TGAGAGCCAGCCCCTCTTCCCCCTCTGGCTCTTGTGACCCCCATCACAGG GTGGGGAGACACCCCCCGCGAGGCGGGGACTGAGAGCCAGCCCCTCTTCC CCCACTGGCTTAGGACGCCCATCGGGGATCCTAAGATCCTTAGGACCCAC CTGGAGGACTGTGGGTATGAGGTGTTCAAGAAGAAAGCTCAAATCTTCCG ACGGCAGGTACCTTGCGTGGGATTTACAATACGACAGGGGTCCGAACGCA GCTCAGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAG GGCAGAAGGCAGGTGAGAGAATTCTTAGGAGCTGTGGGGTTTTGTAGGCT GTGGATCCCAAACGTTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAA AGGGGGCGGGGACCCGGAACCTTTGAAATGGGGATCCCGACAACAGCAAG TCTTTCATTAGTTATAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTA CCCGATCTGACAAAGCCTTTTCCATTGTATGCGTCAGAGAGAGAAAAGAT GGCAGCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAG CCTACGTCTCTAAACAACTAGACAGGGTTGCTAAAGAATGGCCCCCCTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp1 NA19043.hp2 HG02280.hp1 HG02965.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0007 a0001c0003t0008 a0001c0018t0009 a0001c0003t0007 a0001c0003t0008 a0001c0018t0009	a0001c0003t0007g0024 a0001c0003t0008g0025 a0001c0018t0009g0023 a0001c0003t0007g0024 a0001c0003t0008g0025 a0001c0018t0009g0023	3	38	0.0790	-748	c.243 others(17): Show c.243+4147_243+4894del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(741): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03654.hp2 HG02622.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0226 a0001c0001t0001g0202 a0001c0001t0001g0226	2	350	0.0057	-748	c.24 others(11): Show c.2416_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar

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Search Results (Total: 4625 hits)