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
PJA2_chr5_109329722_109414974	109341834	AGCCCCCC others(267): Show AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTGA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGATGTCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp1 HG02602.hp2 HG02683.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0052 a0003c0003t0002g0100 a0003c0003t0002g0052 a0003c0003t0002g0100	2	346	0.0058	-274	c.200 others(19): Show c.2001+2082_2001+2355del		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PLCB4_chr20_9064087_9485808	9213104	GCTTGGCT others(267): Show GCTTGGCTTCTCTCCGTTAGCATACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTAGACAAAGTCTCACTCTATCACCCAGGCTGGAGGGCAGTGGTGCA GTGCAATCTCGGCTCACTACAAACTCTATCTCCCAGGTTCAAGCAGTTCT CTTGCCTCAGCCTCCCAAGTAGGTGGGATCACAGGTGTGTGCCACCACAC CCAGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCACTATGTTGGCT AGGCTGGTCTTGAACTCCTGACCTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02615.hp1 others(7): Show HG01109.hp1 HG02451.hp1 HG02615.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0005t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0002g0083 a0001c0001t0003g0040 a0001c0001t0003g0060 a0003c0005t0001g0136	10	140	0.0714	-274	c.-78 others(17): Show c.-78-4285_-78-4012del		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39						chr20	TogoVar
SEH1L_chr18_12943011_12992531	12980268	TCGGGGCG others(267): Show TCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCAGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGATCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(53): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00673.hp2 HG01168.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02738.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18984.hp2 NA18986.hp1 NA18993.hp1 NA19000.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0021 others(52): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0099 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0381 a0001c0001t0007g0273	56	388	0.1443	-274	c.761 others(17): Show c.761+1395_761+1668del		SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
SELENOI_chr2_26341143_26400885	26370868	CCAGGCGG others(267): Show CCAGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCA GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCCAGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGG	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	334	0.0030	-274	c.311 others(17): Show c.311-2497_311-2224del		SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48556150	TGGCTGGC others(267): Show TGGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCTGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp1 HG02622.hp1 HG03209.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0012 a0006c0011t0012	a0006c0011t0012g0193 a0006c0011t0012g0270 a0006c0011t0012g0193 a0006c0011t0012g0270	2	376	0.0053	-274	c.-47 others(19): Show c.-47-24424_-47-24151del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
TM9SF4_chr20_32104714_32172256	32122010	TGGCTGGC others(267): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCGGGACGGGGC AGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGGGTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTGA TGCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CCCCCACCTCCCTCCCGGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0136 a0001c0001t0001g0075 a0001c0001t0001g0136	2	298	0.0067	-274	c.16- others(17): Show c.16-10994_16-10721del		TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC1_chr9_72516608_72843297	72840860	GGGGCGGC others(267): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCTGGGCAGGGGGC TGACCCCCCACCTCCCTCCCGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	182	0.0055	-274	c.48 others(11): Show c.4888_*5161del		TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding					2564		chr9	TogoVar
TMEM132D_chr12_129066726_129909025	129856491	TTGTAACA others(267): Show TTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACGGAGTCCG GGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGG TGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGA GTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGG ATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATA ACAGAGTCCGGGGGAGCGGGATGGG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	94	0.0106	-274	c.79+ others(17): Show c.79+46496_79+46769del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857437	GGAGTCCG others(267): Show GGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGG GGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTG TAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGG GAACGGGATGGCTGCCCTTGTAACA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	94	0.0106	-274	c.79+ others(17): Show c.79+45550_79+45823del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM239_chr20_2811364_2823062	2822788	CCCGTCTC others(267): Show CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-274	c.57 others(11): Show c.5776_*6049del		TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding					4727		chr20	TogoVar
UBTD1_chr10_97493924_97576206	97528402	ACTCCCCC others(267): Show ACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACG GGGCGGCTCGCCTGGCGGGGGGCTCACCCCCCCACCTCCCTCCCGAACGG GGCGGCTGGCCGGGCGGGGGGCTGAACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp2 HG02886.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0162 a0001c0002t0001g0304 a0001c0001t0011g0162 a0001c0002t0001g0304	2	314	0.0064	-274	c.70+ others(17): Show c.70+29131_70+29404del		UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317742	ACACCCCG others(267): Show ACACCCCGCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACAG AGATGGAAAGACCACACACCCCCCCCCCCCCAGACACAGAGATGGAAAGA CCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCA GACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGA CCACACCCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAG ACACAGAGATGGAAAGACCACACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	282	0.0036	-274	c.48 others(11): Show c.4877_*5150del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4582		chr10	TogoVar
AGR2_chr7_16786811_16809999	16789635	AGAGGCGC others(266): Show AGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTG AGCCCCCCACCTCCCTCCCGGCGGAGCAGCTAGCCGGGCAGGGGGCTGAC CCCCCACCTCCCTCCCGGATGGGGCGTCTCGCCTGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGAGCCGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCTGCCGGGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	460	0.0022	-273	c.30 others(11): Show c.3000_*3272del		AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding					2175		chr7	TogoVar
CANT1_chr17_78986716_79014764	79004886	GGGAGTTA others(266): Show GGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGCTGGGGGGGAGTTATGG AGCAAGGAGTTAGGGAGGGGGGAGTTAGGGAGATGGGAGTTAGGGAGAGG GGGGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGAGTTA GGGAGAGGGGAGCTAGGGAGAGGGGGGTTAGGGAAGGGGGAGTTAGGGAG GGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGGAGAGGGGAT TTAGGGAGGGGGGAGTTAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp1 HG03139.hp1 HG02615.hp1 HG02976.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0187 a0002c0004t0001g0188 a0002c0004t0001g0189 a0002c0004t0001g0187 a0002c0004t0001g0188 a0002c0004t0001g0189	3	394	0.0076	-273	c.-14 others(19): Show c.-147+4505_-147+4777del		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CDK12_chr17_39456486_39539544	39498934	TCTTTCTT others(266): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG04115.hp1 HG00423.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0201 a0001c0001t0001g0205	2	260	0.0077	-273	c.242 others(19): Show c.2420-2311_2420-2039del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP97D2_chr13_114174257_114228085	114198629	TGAGGGGT others(266): Show TGAGGGGTGACGGCGCGTCCCCGTGTTTACGGTCCCCGCTGAGGCGTGAC AGTGGGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCC GTGTGTACAGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGT CCCTGCTGAGGCGTGACAGTGGGTCCCCGTGTGTACGGTCCCCGCTGAGG CGTGACAGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGTGTACGGTCCCCACC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	400	0.0050	-273	c.172 others(17): Show c.172-1670_172-1398del		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CNTN4_chr3_2093866_3062959	2453974	TATTGAAG others(266): Show TATTGAAGTGATTTCTGTGCTTGTTGCATGGATATCCTCAGAATTCTATA GCATTCTGACAGGGTAGATATAATCAGCCCCATATTATAAGCAAAGAACC TGAGGCTCGAAGAAGCTAACTTGCCTGTTGTTACATGGCAAGAGTATGGC CAGAATTCAAGTCTAGGTTGTTTAAGTTCCAAAGTCTACGTGCTTGTTTC CTACTCCATTAGTGATCTTACCTCTCCTCTAGGATACCTTTCATATTAAT TTGATACTCAGTAAGTATTTCATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00639.hp1 others(60): Show HG00140.hp1 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02074.hp1 HG02074.hp2 HG02165.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03927.hp2 HG06807.hp1 NA18990.hp1 NA18990.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0021 a0001c0023 a0001c0025 a0002c0016 a0002c0017 a0003c0008 a0004c0011 a0007c0018 a0009c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0005t0001 a0001c0005t0006 a0001c0005t0009 a0001c0005t0010 a0001c0006t0002 a0001c0006t0004 a0001c0007t0016 a0001c0009t0004 a0001c0010t0003 a0001c0021t0002 a0001c0023t0004 a0001c0025t0001 a0002c0016t0003 a0002c0017t0008 a0003c0008t0001 a0003c0008t0013 a0004c0011t0003 a0007c0018t0003 a0009c0027t0001	a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0099 others(60): Show a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0099 a0001c0001t0002g0074 a0001c0001t0002g0086 a0001c0001t0003g0008 a0001c0001t0003g0095 a0001c0001t0004g0042 a0001c0001t0004g0081 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0054 a0001c0001t0005g0115 a0001c0001t0008g0043 a0001c0001t0008g0053 a0001c0002t0001g0021 a0001c0002t0001g0029 a0001c0002t0001g0038 a0001c0002t0001g0088 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0002g0035 a0001c0002t0003g0024 a0001c0002t0004g0017 a0001c0002t0007g0080 a0001c0003t0001g0037 a0001c0003t0001g0045 a0001c0003t0001g0075 a0001c0003t0001g0116 a0001c0003t0002g0061 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0107 a0001c0003t0003g0046 a0001c0003t0006g0040 a0001c0003t0011g0113 a0001c0004t0001g0036 a0001c0004t0001g0106 a0001c0004t0002g0064 a0001c0004t0002g0076 a0001c0004t0006g0068 a0001c0005t0001g0090 a0001c0005t0001g0092 a0001c0005t0001g0104 a0001c0005t0006g0010 a0001c0005t0009g0091 a0001c0005t0010g0001 a0001c0006t0002g0060 a0001c0006t0004g0004 a0001c0007t0016g0105 a0001c0009t0004g0005 a0001c0010t0003g0011 a0001c0010t0003g0077 a0001c0021t0002g0025 a0001c0023t0004g0041 a0001c0025t0001g0100 a0002c0016t0003g0079 a0002c0017t0008g0067 a0003c0008t0001g0084 a0003c0008t0013g0109 a0004c0011t0003g0111 a0007c0018t0003g0062 a0009c0027t0001g0007	63	116	0.5431	-273	c.-89 others(21): Show c.-89+115294_-89+115566del		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
DGKH_chr13_42043648_42247896	42181816	CTGCTGGC others(266): Show CTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGC AGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGC TGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTG CTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGC TGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGC TGGTGCTGGCAGCTGAGCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00735.hp2 others(55): Show HG00438.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18981.hp2 NA18988.hp2 NA19043.hp2 NA19085.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0002c0022 a0003c0007 a0008c0023	a0001c0002t0001 a0001c0002t0024 a0001c0002t0030 others(33): Show a0001c0002t0001 a0001c0002t0024 a0001c0002t0030 a0001c0002t0042 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0109 a0001c0003t0110 a0001c0003t0111 a0001c0003t0113 a0001c0003t0114 a0001c0003t0115 a0001c0003t0123 a0001c0004t0001 a0001c0004t0008 a0001c0004t0009 a0001c0004t0013 a0001c0004t0020 a0001c0004t0025 a0001c0004t0027 a0001c0004t0040 a0001c0004t0041 a0001c0004t0093 a0001c0004t0108 a0001c0004t0117 a0001c0013t0001 a0002c0022t0008 a0003c0007t0009 a0008c0023t0112	a0001c0002t0001g0011 a0001c0002t0001g0251 a0001c0002t0024g0003 others(54): Show a0001c0002t0001g0011 a0001c0002t0001g0251 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0030g0006 a0001c0002t0030g0050 a0001c0002t0042g0014 a0001c0003t0008g0214 a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0197 a0001c0003t0010g0198 a0001c0003t0010g0200 a0001c0003t0010g0279 a0001c0003t0013g0009 a0001c0003t0013g0015 a0001c0003t0025g0138 a0001c0003t0025g0186 a0001c0003t0038g0133 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0146 a0001c0003t0109g0080 a0001c0003t0110g0135 a0001c0003t0111g0064 a0001c0003t0113g0029 a0001c0003t0114g0202 a0001c0003t0115g0201 a0001c0003t0123g0238 a0001c0004t0001g0008 a0001c0004t0008g0278 a0001c0004t0009g0275 a0001c0004t0013g0209 a0001c0004t0013g0210 a0001c0004t0020g0313 a0001c0004t0025g0213 a0001c0004t0027g0141 a0001c0004t0027g0156 a0001c0004t0040g0063 a0001c0004t0041g0165 a0001c0004t0093g0212 a0001c0004t0108g0206 a0001c0004t0117g0013 a0001c0013t0001g0231 a0002c0022t0008g0162 a0003c0007t0009g0001 a0003c0007t0009g0244 a0003c0007t0009g0245 a0003c0007t0009g0246 a0003c0007t0009g0248 a0008c0023t0112g0147	58	316	0.1835	-273	c.153 others(19): Show c.1538+3625_1538+3897del		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	13/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DPYSL4_chr10_132181948_132210759	132190972	TGTTCCCA others(266): Show TGTTCCCAGCTCGTGTGTACACGCTGGCCACGTGGTATCCAGGCAGTTGA AAGTATGTTCCCAGCTCGTGTGTACACGCTGGTCACATGGTATCCAGGCA GGTGCAAATAGTTCCCAGCTCGTGTGTACACGCTGGCCACGTGGTATCCA GGCAGTTGAAAGTATGTTCCCACCTCTTGTGTACACACTGGTCACGTGGT ATCCAGGCAGTTGAAAGTATGTTCCCAGCTCTTGTGTACACACTGGTCAC GTGGTATCCAGGCAGGTGCAAATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	418	0.0024	-273	c.128 others(15): Show c.128+200_128+472del		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ERFL_chr19_41902704_41933449	41914622	CATCTCTG others(266): Show CATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCT CCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCT CCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGT CTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCCTCCACCGTGT CTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCCTCCACCATCTCTGT CTCTCCCTCCCCTCCATCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02293.hp1 HG01069.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0264 a0001c0001t0003g0227 a0001c0001t0003g0264	2	330	0.0061	-273	c.-13 others(17): Show c.-13-1963_-13-1691del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERICH1_chr8_659200_736224	675459	GTGAGGAC others(266): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGGCGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0279 a0001c0002t0002g0279	1	378	0.0027	-273	c.305 others(17): Show c.305-1685_305-1413del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675617	GCCCCTCG others(266): Show GCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGG CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp1 HG03669.hp1 HG01069.hp1 HG01169.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0205 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0205	3	378	0.0079	-273	c.305 others(17): Show c.305-1843_305-1571del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675691	ACGCGGCG others(266): Show ACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCG AGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGC GGCGGCCCCTCGTGAGGACAGAGG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	378	0.0027	-273	c.305 others(17): Show c.305-1917_305-1645del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675731	TCGTGAGG others(266): Show TCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02040.hp2 HG02071.hp1 others(3): Show HG01516.hp1 HG02040.hp2 HG02071.hp1 HG02135.hp1 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0253 a0001c0001t0002g0281 a0001c0001t0002g0283 others(3): Show a0001c0001t0002g0253 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0003t0001g0224	6	378	0.0159	-273	c.305 others(17): Show c.305-1957_305-1685del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ESR1_chr6_151802682_152108274	151899070	TGGGGGGC others(266): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGCGCCCCTCA CCTCCCGGACTGGGCAGCTGGCCAGGCGGGGGGCTGAACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18954.hp2 NA18995.hp2 HG00609.hp2 NA18954.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0002g0042 a0001c0001t0002g0117 a0001c0001t0001g0044 a0001c0001t0002g0042 a0001c0001t0002g0117	3	250	0.0120	-273	c.760 others(19): Show c.760+18323_760+18595del		ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
EXOC2_chr6_480154_698139	676131	ACTCTGAG others(266): Show ACTCTGAGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTC TGGAGACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTC CTCTGGAGACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGG TTCCTCTGGAGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGG ACAGGTTCCTCTGGTGACTCTGCGGTTCCCCATACTCTTCAACATTACGG AAAGGACAGGTTCCTCTGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	272	0.0037	-273	c.-44 others(19): Show c.-44+16615_-44+16887del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
FAAP100_chr17_81534891_81557353	81535278	CCCACCAT others(266): Show CCCACCATCCGCATCCCCATCTCCATCCCCACCACCCCCACCCCCACCAG CCCCATCCCCATGACCACCATCCCCATCTCCACCATCTCCATCACCATCA TCGCCATCCCCATCCCCATCATCACCATCCCTATCACCACCATCCCCATC ATCACCATCCCCACCATCCGCATCCCCATCTCCATCCCCACCACCCCCAC CACCACCAGCCCCATCCCCATCACCACCATCCCCATCTCCACCATCTCCA TCACCATCATCACCATCCCCATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02818.hp1 others(1): Show HG02622.hp1 HG02630.hp2 HG02818.hp1 HG03516.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0017 a0002c0002 a0015c0017	a0002c0002t0003 a0015c0017t0017 a0002c0002t0003 a0015c0017t0017	a0002c0002t0003g0018 a0015c0017t0017g0233 a0002c0002t0003g0018 a0015c0017t0017g0233	4	436	0.0092	-273	c.52 others(11): Show c.5268_*5540del		FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding					4612		chr17	TogoVar
FOXN3_chr14_89151177_89422233	89361546	AGCACCAC others(266): Show AGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTC CAGCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCT CCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCACCAC CACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCTCCA CCACCACCACCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0165 a0001c0001t0051g0165	1	230	0.0044	-273	c.544 others(19): Show c.544-11011_544-10739del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FSCN2_chr17_81523377_81542130	81535278	CCCACCAT others(266): Show CCCACCATCCGCATCCCCATCTCCATCCCCACCACCCCCACCCCCACCAG CCCCATCCCCATGACCACCATCCCCATCTCCACCATCTCCATCACCATCA TCGCCATCCCCATCCCCATCATCACCATCCCTATCACCACCATCCCCATC ATCACCATCCCCACCATCCGCATCCCCATCTCCATCCCCACCACCCCCAC CACCACCAGCCCCATCCCCATCACCACCATCCCCATCTCCACCATCTCCA TCACCATCATCACCATCCCCATCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02818.hp2 others(1): Show HG02622.hp1 HG02630.hp2 HG02818.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0069 a0001c0002t0002g0077 a0001c0002t0002g0034 a0001c0002t0002g0069 a0001c0002t0002g0077	4	432	0.0093	-273	c.983 others(14): Show c.983+74_983+346del		FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241807134	CCACCTTC others(266): Show CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCC CTCACGCCAGGGACCCGGGAAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02109.hp1 HG01952.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0242 a0001c0001t0001g0188 a0001c0001t0001g0242	2	314	0.0064	-273	c.29 others(11): Show c.2969_*3241del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2848		chr2	TogoVar
GEMIN4_chr17_739421_757264	753052	TTGGAGCG others(266): Show TTGGAGCGCGAAAAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACG CGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGC GAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAG TGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGG GGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGC TGACGAAGAAGGAAGTGGGGGGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0087 a0001c0001t0008g0087	1	434	0.0023	-273	c.-11 others(10): Show c.-1183_-911del		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding					789		chr17	TogoVar
GEMIN4_chr17_739421_757264	753166	GCAAGATG others(266): Show GCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACG AAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGG ACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAA GTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGA GGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGC GTGGAGCGCGAACAAAGGGGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG02451.hp2 HG02896.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0056 a0018c0017t0001g0057 a0018c0017t0001g0056 a0018c0017t0001g0057	2	434	0.0046	-273	c.-12 others(11): Show c.-1297_-1025del		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding					903		chr17	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344887	TCTCCTGT others(266): Show TCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGT TCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAG CCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCT CCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCA CGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCT CTCCTCCTGTTCACACAGCCTCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0024 a0024	a0024c0023 a0024c0023	a0024c0023t0003 a0024c0023t0003	a0024c0023t0003g0102 a0024c0023t0003g0104 a0024c0023t0003g0102 a0024c0023t0003g0104	2	301	0.0066	-273	c.700 others(7): Show c.700_972del	p.Glu others(13): Show p.Glu234_Glu324del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1072/4452	700/1569	234/522			chr15	TogoVar
GPR176_chr15_39794008_39925266	39894052	ACCTCCCG others(266): Show ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGTTGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03942.hp2 HG00735.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0234 a0001c0001t0018g0236 a0001c0001t0002g0234 a0001c0001t0018g0236	2	312	0.0064	-273	c.172 others(19): Show c.172+25530_172+25802del		GPR176	ENSG00000166073.12	transcript	ENST00000561100.2	protein_coding	1/2						chr15	TogoVar
KLHL32_chr6_96919728_97145753	97055949	TCCACTCC others(266): Show TCCACTCCAAGTCTGGAGGCTTTTATCTTCATCATTCCACTAAAACTGTT CTTGGCAGTCACAAATATTGCCAAATCTAATTAAATACTGTCATATGTGA CCTCACAGCTTCGTGCAGCATAGCCAGCCTCCCTTTTCTTTTTTTTTCTT TTTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAGTCTCGCTCTGTCACCC AGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGGAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0197 a0002c0002t0004g0197	1	244	0.0041	-273	c.313 others(17): Show c.313-8678_313-8406del		KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	4/10						chr6	TogoVar
KLK6_chr19_50953631_50974591	50961074	ATTTTTAG others(266): Show ATTTTTAGTAGAGATAGGGTTTCACCATGTTGATCAGGCTGGTCTCGAAC TCCTGACCCCAGGTGATCCTCCTGCTTCGGCCTCCCAAGGTGCTGGGATT ACAGGCATGAGCCACTGTGCCCATCCTAATTTTTGTATTTTTAGTAGAGA TAGGGTTTCACCATGTTGATCAGGCTGGTCTCGAACTCCTGACCCCAGGT GATCCTCCTGCTTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCA CTGTGCCCATCCTAATTTTTGTAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0097 a0004c0005t0001g0097	1	316	0.0032	-273	c.582 others(15): Show c.582+397_582+669del		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
LGR5_chr12_71434798_71591310	71563926	ATGTACAC others(266): Show ATGTACACACACACCGTGTATATATGCATATATACGTATCTGTACACACG CACTGTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATA TATGCATATATACGTATCTGTATACACGCACCGTGTATATATGCATATAT ACGTATCTGTACACACGCACCGTGTATATATGCATATATACGTATCTGTA CACACGCACCGTGTATATATGCATATATACGTATCTGTACACACGCACCG TGTATATATGCATATATACGTATC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp1 HG02486.hp1 HG03139.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0019 a0003c0005t0011 a0003c0005t0019	a0003c0005t0011g0199 a0003c0005t0019g0181 a0003c0005t0011g0199 a0003c0005t0019g0181	2	200	0.0100	-273	c.857 others(17): Show c.857+2084_858-2196del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR5_chr12_71434798_71591310	71563936	ACACCGTG others(266): Show ACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTGTGTAT ATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATATA TACGTATCTGTATACACGCACCGTGTATATATGCATATATACGTATCTGT ACACACGCACCGTGTATATATGCATATATACGTATCTGTACACACGCACC GTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATATATG CATATATACGTATCTGTACACACG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG01109.hp2 others(43): Show HG00438.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01928.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02559.hp1 HG02683.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03704.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19062.hp2 NA19076.hp2 NA19084.hp2 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0012	a0001c0001 a0002c0003 a0010c0012 others(1): Show a0001c0001 a0002c0003 a0010c0012 a0012c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0020 a0002c0003t0001 a0002c0003t0002 a0010c0012t0001 a0012c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0096 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0130 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0003g0139 a0001c0001t0004g0069 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0020g0097 a0002c0003t0001g0020 a0002c0003t0002g0082 a0002c0003t0002g0085 a0002c0003t0002g0093 a0010c0012t0001g0040 a0012c0008t0002g0080	46	200	0.2300	-273	c.857 others(17): Show c.857+2127_858-2153del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LMF1_chr16_848634_975984	886602	AGGCCCCC others(266): Show AGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCC CCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACC CTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTT CCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCA CCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCG TTCCCCAGGCCCCTCCCACCCTAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02976.hp1 HG03098.hp1 others(5): Show HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp1 NA19043.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0002 a0001c0003 a0001c0026 others(3): Show a0001c0002 a0001c0003 a0001c0026 a0001c0060 a0006c0021 a0009c0024	a0001c0002t0006 a0001c0003t0001 a0001c0026t0001 others(3): Show a0001c0002t0006 a0001c0003t0001 a0001c0026t0001 a0001c0060t0002 a0006c0021t0006 a0009c0024t0001	a0001c0002t0006g0050 a0001c0003t0001g0124 a0001c0026t0001g0234 others(5): Show a0001c0002t0006g0050 a0001c0003t0001g0124 a0001c0026t0001g0234 a0001c0026t0001g0235 a0001c0060t0002g0128 a0006c0021t0006g0019 a0009c0024t0001g0117 a0009c0024t0001g0118	8	294	0.0272	-273	c.729 others(17): Show c.729+6132_729+6404del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10						chr16	TogoVar
LRRTM4_chr2_76742685_77527376	77307720	ATATATTA others(266): Show ATATATTATAGAAATATAAATATATAGATATACCTATATATTATAGAAAT ATAAATATATAGATATACCTATATATTATAGAAATATAAATATATAGATA TATCTATATATTATAGAAATATAAATATATAGATATATCTATATATTATA GAAATATAAATATATAGATATATCTATATATTATAGAAATATAAATATAT AGATATATCTATATATTATAGAAATATAAATATATAGATATATCTATATA TTATAGAAATATAAATATATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02723.hp1 others(4): Show HG01891.hp1 HG02258.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0125 a0001c0001t0002g0015 a0001c0001t0003g0083 others(4): Show a0001c0001t0001g0125 a0001c0001t0002g0015 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0005g0091 a0001c0001t0009g0055 a0001c0001t0010g0067	7	128	0.0547	-273	c.155 others(23): Show c.1551+210325_1551+210597del		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
MAN1A2_chr1_117362449_117533872	117429752	CGGGGGGC others(266): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0292 a0001c0001t0011g0292	1	370	0.0027	-273	c.855 others(17): Show c.855+9148_855+9420del		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19452113	GAGAAGAG others(266): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGA AGAGAAGAGAAGAGAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp2 HG03453.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0123 a0002c0002t0003g0139 a0002c0002t0003g0123 a0002c0002t0003g0139	2	163	0.0123	-273	c.995 others(17): Show c.995+4527_995+4799del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MTA3_chr2_42563632_42761946	42605541	GGACGGGG others(266): Show GGACGGGGCGGCTGGCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGG ACGGGGCGACTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGATG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCG GGCAGAGGCGCCCCTCAGCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0080 a0001c0001t0017g0080	1	312	0.0032	-273	c.191 others(17): Show c.191-3901_191-3629del		MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241807134	CCACCTTC others(266): Show CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCC CTCACGCCAGGGACCCGGGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02109.hp1 HG01952.hp2 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0110 a0001c0004t0001g0005 a0001c0004t0001g0110	2	319	0.0063	-273	c.-21 others(11): Show c.-2143_-1871del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2058		chr2	TogoVar
OPRL1_chr20_64075082_64105633	64090734	CCACTGAT others(266): Show CCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTG GGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTG TGGCAGAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGAGGTG CCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGGGGTGCCCTGGGCACT GATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTGGGGCC CAGCTGTGGCAGGGGTGCCCTGGG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02559.hp2 HG02602.hp2 others(6): Show HG01433.hp2 HG02559.hp2 HG02602.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03942.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0055 a0001c0001t0002g0008 a0001c0001t0002g0048 others(5): Show a0001c0001t0001g0055 a0001c0001t0002g0008 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0011g0050 a0001c0001t0011g0051	9	66	0.1364	-273	c.-18 others(18): Show c.-184-1048_-184-776del		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
OTUD7A_chr15_31470398_31875673	31510584	TACATATG others(266): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0075 a0001c0009t0019g0075	1	244	0.0041	-273	c.894 others(17): Show c.894-7039_894-6767del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PDZK1_chr1_145665985_145712368	145712095	ACGGTGGC others(266): Show ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGTGGGCG GATCACCTGAGGTCGGGAGTTCAAGATCAGCCTGGCCAACATGGAAAAAC CCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGTGCATGCCT GTAATCCCAACTACTAGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGG GAGGCAGAGGTTGCTGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGG GCGACAGAGCAAGACTCTGTCTCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19083.hp1 NA19010.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0066 a0001c0001t0001g0069	2	322	0.0062	-273	c.-50 others(11): Show c.-5054_-4782del		PDZK1	ENSG00000174827.14	transcript	ENST00000417171.6	protein_coding					4728		chr1	TogoVar
PXMP2_chr12_132682587_132709985	132694526	AGCCAGTT others(266): Show AGCCAGTTAGATAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTG CCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTAGCTAG TTAGAGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGT TAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTGAGCT CCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTGAGTGCCCTT GCCAGTTAGTTAGTGAGCGCCCTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	350	0.0029	-273	c.237 others(17): Show c.237-1348_237-1076del		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL11_chr1_23686806_23701835	23688734	GGAAGTGA others(266): Show GGAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCCCACCTGGGAGGTGAGG AGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGC CCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCGACCC CGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAGTG AGGAGACCCTCCGCCCAGCATCCGCCCCGTCTGCGAAGTGAGGAGCCCCT CCGCCCGGCAGCCGCCCCGTCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02559.hp2 others(2): Show HG01243.hp2 HG02257.hp1 HG02559.hp2 HG02965.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	5	388	0.0129	-273	c.-30 others(11): Show c.-3089_-2817del		RPL11	ENSG00000142676.14	transcript	ENST00000643754.2	protein_coding					3071		chr1	TogoVar
S1PR4_chr19_3173769_3185332	3177856	ATCGGGCT others(266): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-273	c.-93 others(9): Show c.-936_-664del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					912		chr19	TogoVar

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