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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGATGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19064.hp2 NA19064.hp2	a0053 a0053	a0053c0036 a0053c0036	a0053c0036t0002 a0053c0036t0002	a0053c0036t0002g0001 a0053c0036t0002g0001	1	326	0.0031	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGATGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAspGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(94): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01099.hp1 HG01175.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp1	a0002 a0008 a0040 others(12): Show a0002 a0008 a0040 a0041 a0042 a0043 a0044 a0045 a0050 a0051 a0054 a0056 a0059 a0060 a0061	a0002c0002 a0008c0006 a0040c0043 others(12): Show a0002c0002 a0008c0006 a0040c0043 a0041c0042 a0042c0028 a0043c0029 a0044c0030 a0045c0031 a0050c0037 a0051c0038 a0054c0034 a0056c0027 a0059c0024 a0060c0023 a0061c0022	a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 others(16): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0008c0006t0002 a0040c0043t0002 a0041c0042t0002 a0042c0028t0002 a0043c0029t0002 a0044c0030t0002 a0045c0031t0002 a0050c0037t0002 a0051c0038t0002 a0054c0034t0002 a0056c0027t0002 a0059c0024t0002 a0060c0023t0002 a0061c0022t0002	a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0002g0016 others(19): Show a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0002g0016 a0002c0002t0002g0034 a0002c0002t0007g0001 a0002c0002t0008g0001 a0002c0002t0011g0001 a0002c0002t0012g0001 a0008c0006t0002g0001 a0040c0043t0002g0036 a0041c0042t0002g0028 a0042c0028t0002g0007 a0043c0029t0002g0001 a0044c0030t0002g0001 a0045c0031t0002g0001 a0050c0037t0002g0001 a0051c0038t0002g0001 a0054c0034t0002g0001 a0056c0027t0002g0001 a0059c0024t0002g0001 a0060c0023t0002g0033 a0061c0022t0002g0001	97	326	0.2976	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18988.hp1 NA18988.hp1	a0052 a0052	a0052c0040 a0052c0040	a0052c0040t0002 a0052c0040t0002	a0052c0040t0002g0001 a0052c0040t0002g0001	1	326	0.0031	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTTGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaTrpAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02074.hp1 NA18964.hp1 NA18997.hp1 HG02074.hp1 NA18964.hp1 NA18997.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0002 a0012c0012t0002	a0012c0012t0002g0001 a0012c0012t0002g0007 a0012c0012t0002g0016 a0012c0012t0002g0001 a0012c0012t0002g0007 a0012c0012t0002g0016	3	326	0.0092	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19082.hp1 NA19091.hp1 NA19082.hp1 NA19091.hp1	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0002 a0018c0016t0002	a0018c0016t0002g0001 a0018c0016t0002g0001	2	326	0.0061	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02723.hp2 HG02965.hp1 HG03471.hp1 others(2): Show HG02723.hp2 HG02965.hp1 HG03471.hp1 HG06807.hp1 NA20752.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0001 a0010c0009t0001g0001	5	326	0.0153	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494096	G G	GGGCTGGG others(407): Show GGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGAC TGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTG GGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAG GCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGT TGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTG GGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAG GCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGAGGCTGGGGCTGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG02559.hp1	a0035 a0035	a0035c0049 a0035c0049	a0035c0049t0001 a0035c0049t0001	a0035c0049t0001g0004 a0035c0049t0001g0004	1	326	0.0031	414	c.552 others(423): Show c.5524_5525insAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTG GGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGC TGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTG GGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGG GCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGC TGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC GGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAG GCTGGGGCTGAGGCTGGGGCTGGGGCTG	p.Ala others(429): Show p.Ala1841_Gly1842insGluAlaGlyAlaGlyThrGluAlaGlyAla GlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGl yThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyThrGluAlaGlyA laGlyAlaGluValGluAlaGlyAlaGlyAlaGluValGlyAlaGlyThr GluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaGl uValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluA laGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAla GluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGl yAlaGluAlaGlyAlaGluAlaGlyAlaGlyAla	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6036/7729	5525/6873	1842/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATACAA others(407): Show TTATACAATATATAATGTATTGCATATAGATTGTACATACGTGTACATAC AATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATA TAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATA CGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAA TGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATA GATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACG TGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATG TATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGA TTGTACATACGTGTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18986.hp2 HG03471.hp1 NA18986.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0164 a0006c0016t0012g0188 a0006c0016t0012g0164 a0006c0016t0012g0188	2	236	0.0085	414	c.676 others(431): Show c.676-3634_676-3633insTACACGTATGTACAATCTATATGCAATA CATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACA CGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATC TATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACA TTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACG TATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTA TATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATT GTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTA TGTACAATCTATATGCAATACATTATATATTGTATA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(407): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCCC CCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0022 a0002c0010t0022	a0002c0010t0022g0072 a0002c0010t0022g0072	1	254	0.0039	414	c.39+ others(431): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCC CCACCCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCC CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(407): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0207 a0003c0012t0005g0207	1	254	0.0039	414	c.39+ others(431): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCCACCCCCACCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
AUTS2_chr7_69593475_70798506	70723689	C C	CGTAGCTC others(407): Show CGTAGCTCTGCTCTTTTTTTTTTTTTTTTTTTGTAACATCAAAGTTCTTT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC CACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCC CCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTG TGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCG GTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCA ATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCT GCATAGTATTCCATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG01884.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0065 a0001c0001t0011g0041 a0001c0001t0010g0065 a0001c0001t0011g0041	2	76	0.0263	414	c.742 others(433): Show c.742+25083_742+25084insTTTTTTTTTTTTTTTTTGTAACATCA AAGTTCTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTAGCTCTGCTCTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70723689	C C	CGTAGCTC others(407): Show CGTAGCTCTGCTCTTTTTTTTTTTTTTTTTTTGTAACATCAAAGTTCTTT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC CACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCC CCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGGTATTCCCCTTCCTG TGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCG GTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCA ATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCT GCATAGTATTCCATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp1 HG03239.hp1 others(3): Show HG01934.hp1 HG02257.hp1 HG03239.hp1 HG04199.hp1 NA18612.hp1 NA18952.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0006t0003	a0001c0001t0002g0052 a0001c0001t0003g0031 a0001c0001t0003g0035 others(3): Show a0001c0001t0002g0052 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0004g0042 a0001c0001t0004g0048 a0003c0006t0003g0034	6	76	0.0790	414	c.742 others(433): Show c.742+25083_742+25084insTTTTTTTTTTTTTTTTTGTAACATCA AAGTTCTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGGTATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTAGCTCTGCTCTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(407): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	414	c.36 others(425): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCTGGCAGAGC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3483		chr19	TogoVar
BTNL8_chr5_180894159_180955906	180917048	T T	TCAACAAA others(407): Show TCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGG CACTATGAAAAATCATAGGCCAACAAACTGGATAACCTAGCAGAAACCAA AGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGG ATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAA TCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAG ACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02630.hp1 others(8): Show HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 NA18522.hp2	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0012	a0002c0007 a0005c0009 a0005c0012 others(2): Show a0002c0007 a0005c0009 a0005c0012 a0007c0013 a0012c0023	a0002c0007t0001 a0005c0009t0001 a0005c0012t0001 others(2): Show a0002c0007t0001 a0005c0009t0001 a0005c0012t0001 a0007c0013t0001 a0012c0023t0001	a0002c0007t0001g0039 a0002c0007t0001g0042 a0002c0007t0001g0044 others(8): Show a0002c0007t0001g0039 a0002c0007t0001g0042 a0002c0007t0001g0044 a0005c0009t0001g0034 a0005c0009t0001g0035 a0005c0009t0001g0036 a0005c0012t0001g0038 a0005c0012t0001g0041 a0007c0013t0001g0040 a0007c0013t0001g0043 a0012c0023t0001g0037	11	190	0.0579	414	c.673 others(431): Show c.673+5455_673+5456insAGAAACCAAAGACAAGGTTAGACTACGG CACTATGAAAAATCATAGGCCAACAAACTGGATAACCTAGCAGAAACCAA AGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGG ATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAA TCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAG ACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGC		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917113	T T	TAGGCCAA others(407): Show TAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACT ACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAA CCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAA CTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGA AAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGG TTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTA GCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGC CAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGC ACTATGAAAAATCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp1 NA18966.hp1 HG02922.hp2 HG03209.hp1 NA18966.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0005 a0011c0026 a0002c0002 a0002c0005 a0011c0026	a0002c0002t0001 a0002c0005t0001 a0011c0026t0001 a0002c0002t0001 a0002c0005t0001 a0011c0026t0001	a0002c0002t0001g0032 a0002c0005t0001g0087 a0011c0026t0001g0077 a0002c0002t0001g0032 a0002c0005t0001g0087 a0011c0026t0001g0077	3	190	0.0158	414	c.673 others(431): Show c.673+5567_673+5568insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACA GGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTACGGCACTATGAAAAATCA		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917332	C C	CTGGATAA others(407): Show CTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGA AAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGG TTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTA GCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGC CAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGC ACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAA GACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGA TAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAAT CATAGGCCAACAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG01167.hp1 others(34): Show HG00280.hp1 HG00544.hp2 HG01167.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02027.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG04115.hp1 NA18522.hp1 NA18942.hp2 NA19054.hp2 NA19070.hp2 NA19072.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0009	a0002c0002 a0002c0005 a0002c0007 others(4): Show a0002c0002 a0002c0005 a0002c0007 a0002c0024 a0005c0021 a0006c0008 a0009c0022	a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 others(4): Show a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 a0002c0024t0001 a0005c0021t0001 a0006c0008t0001 a0009c0022t0001	a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 others(27): Show a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0005t0001g0137 a0002c0005t0001g0138 a0002c0005t0001g0139 a0002c0007t0001g0055 a0002c0024t0001g0062 a0005c0021t0001g0029 a0006c0008t0001g0011 a0006c0008t0001g0143 a0009c0022t0001g0053	37	190	0.1947	414	c.673 others(431): Show c.673+5774_673+5775insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACA GGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAATTGGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTACGGCACTATGAAAAATCA		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917403	G G	GGATAACC others(407): Show GGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAA AATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTT AGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGC AGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCA ACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCAC TATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGA CAAGGTTAGACTACGGCACTATGAAAAATCATAGGCCAACAAATTGGATA ACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCA TAGGCCAACAAACCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp2	a0008 a0008	a0008c0019 a0008c0025 a0008c0019 a0008c0025	a0008c0019t0001 a0008c0025t0001 a0008c0019t0001 a0008c0025t0001	a0008c0019t0001g0046 a0008c0025t0001g0045 a0008c0019t0001g0046 a0008c0025t0001g0045	2	190	0.0105	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTACGGCACTATGAAAAATCA		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917440	C C	CGGCACTA others(407): Show CGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAA AAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGT TAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAG CAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCC AACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCA CTACGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACCAAAG ACAAGGTTAGACTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0058 a0002c0005t0001g0058	1	190	0.0053	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTACGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTATGGCACTATGAAAAATCA		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917440	C C	CGGCACTA others(407): Show CGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAA AAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGT TAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAG CAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCC AACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCA CTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACCAAAG ACAAGGTTAGACTAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp2 HG01243.hp2 HG03540.hp2	a0002 a0007 a0002 a0007	a0002c0005 a0007c0017 a0002c0005 a0007c0017	a0002c0005t0001 a0007c0017t0001 a0002c0005t0001 a0007c0017t0001	a0002c0005t0001g0061 a0007c0017t0001g0052 a0002c0005t0001g0061 a0007c0017t0001g0052	2	190	0.0105	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTATGGCACTATGAAAAATCA		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917440	C C	CGGCACTA others(407): Show CGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAA AAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGT TAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAG CAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCC AACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCA CTATGAAAAATCATAGGCCAACAAACCGGATAACCTAGCAGAAACCAAAG ACAAGGTTAGACTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0142 a0002c0005t0001g0142	1	190	0.0053	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAACCGGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTATGGCACTATGAAAAATCA		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917440	C C	CGGCACTA others(407): Show CGGCACTATGAAAAATCACAGGCCAACAACCTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAA AAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGT TAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAG CAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCC AACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCA CTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACCAAAG ACAAGGTTAGACTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0060 a0002c0005t0001g0060	1	190	0.0053	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAACCTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTATGGCACTATGAAAAATCA		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
C2orf80_chr2_208160347_208195030	208176908	T T	TACATATC others(407): Show TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATA CATACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACG TATACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACA TATCTGTATACATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG03540.hp1 HG02630.hp1 HG02723.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0252 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0252	3	342	0.0088	414	c.366 others(431): Show c.366+3836_366+3837insGTATGTATACAGATATGTATACGTATGT ATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACAC CTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGT ATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGT ATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTAT ACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGAT ATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTAT ACGTATGTATACACCTATGTATACGTATGTATACAGATATGTATACGTAT GTATACACCTATGTATACGTATGTATACAGATATGT		C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8						chr2	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GATGGTGA others(407): Show GATGGTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGA TGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATG ATGTGATGGTGATGATAGTGATGATGGTGATAATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGGTGATGGTGATGGAGATGTTGGTGATGATGGTGATGGTGGT GATGATGTGATGGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2	a0010 a0055 a0010 a0055	a0010c0010 a0055c0060 a0010c0010 a0055c0060	a0010c0010t0000 a0055c0060t0000 a0010c0010t0000 a0055c0060t0000	a0010c0010t0000g0327 a0010c0010t0000g0328 a0055c0060t0000g0064 a0010c0010t0000g0327 a0010c0010t0000g0328 a0055c0060t0000g0064	3	346	0.0087	414	c.963 others(431): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCACCATCACCACCATCACCATCATCACCATC ACCATCATCACCATCACCGTCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCACCATCATCACCATCATCACTATCATCACCATCACCA TCATCACCATCACCATCATCACCATCATCACCATCACCATCATCACCATC ACCATTATCACCATCATCACTATCATCACCATCACATCATCACCATCACC ATCATCACCATCATCACCATCATCAACATCATCACCATCACCATCATAAC TATCACCATCATCACCATCATCACCATCACATCATCACCATCACCATCAT CACCATCAATATCATCACCATCAATATCATCACCAT		C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11						chr4	TogoVar
CCDC88A_chr2_55282842_55424856	55384579	G G	GTGTATAT others(407): Show GTGTATATATACATATATACGTATGTATGTGTATATATACATATATACGT ATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATAT ATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATAT ACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGT ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	316	0.0032	414	c.273 others(431): Show c.273+4198_273+4199insTACGTATATATGTATATATACACATACA TACGTATATATGTATATATACACATACATACGTATATATGTATATATACA CATACATACGTATATATGTATATATACACATACATACGTATATATGTATA TATACACATACATACGTATATATGTATATATACACATACATACGTATATA TGTATATATACACATACATACGTATATATGTATATATACACATACATACG TATATATGTATATATACACATACATACGTATATATGTATATATACACATA CATACGTATATATGTATATATACACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACA		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32						chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(407): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCA CCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	284	0.0035	414	c.411 others(431): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGC		CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29						chr14	TogoVar
CENPJ_chr13_24877279_24927861	24882111	G G	GATATATA others(407): Show GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTATATAGATATATAGATACATCTAGATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	440	0.0023	414	c.10 others(425): Show c.1065_*1066insATAGATGTATCTATATATCTATATAGATGTATCT ATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATAT CTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATCT AGATGTATCTATATATCTATATAGATGTATCTATATATCTATCTAGATGT ATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTAT ATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCT ATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAG ATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTAT CTATATATCTATCTAGATGTATCTATATAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					167		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882151	G G	GATATATA others(407): Show GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTATATAGATATATAATCTATATAGATACAT CTATATAGATATATAATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAATCTATATAGATACATCTATATAG ATATATAATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATACATCTATATAGATA TATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0065 a0002c0003t0009g0065	1	440	0.0023	414	c.10 others(425): Show c.1025_*1026insATAGATGTATCTATATATCTATATAGATGTATCT ATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAG ATGTATCTATATATCTATATAGATTATATATCTATATAGATGTATCTATA TAGATTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCT ATATATCTATATAGATTATATATCTATATAGATGTATCTATATAGATTAT ATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCT ATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAG ATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTAT CTATATATCTATATAGATGTATCTATATAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					127		chr13	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(407): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03688.hp2 HG00738.hp1 HG03688.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0245 a0004c0005t0002g0248 a0004c0005t0002g0245 a0004c0005t0002g0248	2	428	0.0047	414	c.217 others(431): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCC TGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(407): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0253 a0004c0013t0002g0253	1	428	0.0023	414	c.217 others(431): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGGTGCCC CTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(407): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGGG GGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGTTT TAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	320	0.0031	414	c.-52 others(431): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATA ACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(407): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGGG GGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGTTT TAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18951.hp1 HG02735.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0132 a0002c0002t0001g0141 a0001c0001t0001g0132 a0002c0002t0001g0141	2	320	0.0063	414	c.-52 others(431): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATA ACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
COL21A1_chr6_56051590_56252580	56098454	T T	TATAAATA others(407): Show TATAAATATATAGAAATATATAAATATACATATAAATATATATAAATATA TATGTAAATATATAAATATATAAATATATATGTAAATATATAAATATATA TAAATATATATATAAATATATATATATAAATATATATAAATATATAAATA TATATAAATACATATGTAAATATATAAATATATATAAATATATAAATATA TATAGATATATATATAAATATATATAAATATATATAGATATATATATAAA TATATATAAATATATATAGATATATATATAAATATATATAAATATATATA GATATATATATAAATATATATAAATATATATAGATATATATAAATATATA TAAATATATATAGATATATAGATATATATAAATATATATAGATATATAGA TATATATAAATATAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0262 a0001c0007t0002g0262	1	264	0.0038	414	c.181 others(433): Show c.1812+3017_1812+3018insGTATATTTATATATATCTATATATCT ATATATATTTATATATATCTATATATCTATATATATTTATATATATTTAT ATATATCTATATATATTTATATATATTTATATATATATCTATATATATTT ATATATATTTATATATATATCTATATATATTTATATATATTTATATATAT ATCTATATATATTTATATATATTTATATATATATCTATATATATTTATAT ATTTATATATATTTATATATTTACATATGTATTTATATATATTTATATAT TTATATATATTTATATATATATATTTATATATATATTTATATATATTTAT ATATTTACATATATATTTATATATTTATATATTTACATATATATTTATAT ATATTTATATGTATATTTATATATTTCTATATATTTAT		COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29						chr6	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(407): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGGTGATGTTGATG GCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGAT GATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0009 a0003c0014t0009	a0003c0014t0009g0280 a0003c0014t0009g0280	1	308	0.0033	414	c.371 others(433): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGCGGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGTGGTGGTGGTGATGATGGCGGGGGT GGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGG GGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGGGGTG		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(407): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGG ACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAA GACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGG ATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGA CCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG02258.hp2 others(8): Show HG00280.hp2 HG01106.hp2 HG02258.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03239.hp1 NA18906.hp2 NA18945.hp1 NA18983.hp2 NA19004.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0012	a0001c0007 a0003c0004 a0005c0006 others(1): Show a0001c0007 a0003c0004 a0005c0006 a0012c0033	a0001c0007t0001 a0003c0004t0001 a0003c0004t0002 others(3): Show a0001c0007t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0012 a0005c0006t0001 a0012c0033t0002	a0001c0007t0001g0001 a0001c0007t0001g0063 a0003c0004t0001g0061 others(7): Show a0001c0007t0001g0001 a0001c0007t0001g0063 a0003c0004t0001g0061 a0003c0004t0001g0066 a0003c0004t0001g0095 a0003c0004t0002g0091 a0003c0004t0002g0099 a0003c0004t0012g0064 a0005c0006t0001g0071 a0012c0033t0002g0080	11	128	0.0859	414	c.177 others(431): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGAGGGCAT GTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGAT CATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGAC ATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCA TGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGGG ACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGGGAC others(407): Show TGGGGGACATGTGAGGATCATGGGAAGACCCGTGAGGATCATGGGGGGGA CGTGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGA GGATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCA TAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGG ACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAA GACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGG ATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGA CCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00642.hp2 others(25): Show HG00280.hp1 HG00544.hp2 HG00642.hp2 HG00741.hp2 HG01106.hp1 HG01192.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02622.hp1 HG02895.hp1 HG03492.hp1 NA18612.hp2 NA18945.hp2 NA19004.hp2 NA19005.hp2 NA19067.hp1 NA19070.hp1	a0001 a0006 a0008 others(2): Show a0001 a0006 a0008 a0010 a0019	a0001c0001 a0001c0003 a0001c0021 others(5): Show a0001c0001 a0001c0003 a0001c0021 a0001c0035 a0006c0011 a0008c0015 a0010c0016 a0019c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0003t0001 a0001c0003t0015 a0001c0021t0002 a0001c0035t0002 a0006c0011t0002 a0008c0015t0002 a0010c0016t0014 a0019c0032t0002	a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0004 others(25): Show a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0121 a0001c0001t0016g0100 a0001c0003t0001g0115 a0001c0003t0015g0105 a0001c0021t0002g0093 a0001c0035t0002g0010 a0006c0011t0002g0097 a0006c0011t0002g0110 a0008c0015t0002g0089 a0010c0016t0014g0090 a0019c0032t0002g0008	28	128	0.2188	414	c.177 others(431): Show c.1776+248_1776+249insACATGTGAGGATCATGGGAAGACCCGTG AGGATCATGGGGGGGACGTGTGAGGATCATAGGGGAGACCCGTGAGGGTC ATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTGTGAGGATCATGGGG GGATGTGTGAGGATCATAGAGGGGACATGTGAGGATCATGGAGGGCATGT GAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGATCA TGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGACAT GTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCATG GGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGGGAC GTGAGGATTGGGGGGACCCGTGAGGATCATGGGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGGGAC others(407): Show TGGGGGACATGTGAGGATCATGGGAAGACCCGTGAGGATCATGGGGGGGA CGTGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGA GGATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCA TAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGG ACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAA GACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGG ATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGGGA CCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	128	0.0078	414	c.177 others(431): Show c.1776+248_1776+249insACATGTGAGGATCATGGGAAGACCCGTG AGGATCATGGGGGGGACGTGTGAGGATCATAGGGGAGACCCGTGAGGGTC ATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTGTGAGGATCATGGGG GGATGTGTGAGGATCATAGAGGGGACATGTGAGGATCATGGAGGGCATGT GAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGATCA TGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGACAT GTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCATG GGGGGGACGTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGGGGAC GTGAGGATTGGGGGGACCCGTGAGGATCATGGGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134509	G G	GAGGGTCA others(407): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGTT TAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGG GTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGG GTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0006 a0001c0028t0006	a0001c0028t0006g0247 a0001c0028t0006g0247	1	372	0.0027	414	c.50 others(425): Show c.5018_*5019insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTT AGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAG GGTCAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTC AGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAG GGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGG TCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT AGGGTGAGGGTGAGGGTCAGGTTTAGGGTC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding					4709		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134509	G G	GAGGGTCA others(407): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGTT TAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGG GTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGG GTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0245 a0001c0047t0001g0245	1	364	0.0028	414	c.19 others(425): Show c.1957_*1958insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTT AGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAG GGTCAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTC AGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAG GGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGG TCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT AGGGTGAGGGTGAGGGTCAGGTTTAGGGTC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding					1662		chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587887	G G	GCGTGTCA others(407): Show GCGTGTCACCCACAGATACATGGCCCCCCGTGTTACCCGCGTGTCACCCA CAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGC CCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	348	0.0029	414	c.928 others(429): Show c.928-769_928-768insTGGCCCCCCGTGTTACCCGCGTGTCACCCA CAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGC CCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCCCGTGTCACCCACAGATACA		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924586	C C	CCCCACAC others(407): Show CCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCA GCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAATCC GGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTAAC CCGGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACA CTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCC CCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0222 a0009c0010t0001g0222	1	350	0.0029	414	c.489 others(431): Show c.489-1135_489-1134insACACTGACCCGGCCCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTGACC CGGCCCCCACACTAATCCGGCCCCCACACTGACCCGGCCCCCCACACTGA CCCGGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCAC ACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTC ACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCC CCCACACTAACCCAGTCCCCACACTAACCCAGTCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251048	A A	ACCCCCAC others(407): Show ACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCCAACACCC CCAACACCCCCACACACCCCCCACACACACATCCCCCCACCCCCACACCC CCACACCCCCCACATCTCCCCACACACCCCCCACACCACACATCCCTCAC ACCCCCAAACCCCCACACCCCTCCCCACATCCCCACACCCCCACACCACA CATCCCCCACACCCCCACACCCCCACACCCCCCACATCTCCCCACACACC CCACACCACACATCCCTCACACCCCCAACACCCCCACACCCCCACACACC CCCCCACACCCACATCCCCCACACCCCAAATCCCCCACACACCCCCCACA TCTCCCCCACACCCCCCCACATCCCCCACACCCCCATCCCCCACACCTCC CCACACCCCCACACC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	116	0.0086	414	c.207 others(433): Show c.2073+1366_2073+1367insCCCACACACCCCCCACACCACACATC CCTCACACCCCCCCAACACCCCCAACACCCCCACACACCCCCCACACACA CATCCCCCCACCCCCACACCCCCACACCCCCCACATCTCCCCACACACCC CCCACACCACACATCCCTCACACCCCCAAACCCCCACACCCCTCCCCACA TCCCCACACCCCCACACCACACATCCCCCACACCCCCACACCCCCACACC CCCCACATCTCCCCACACACCCCACACCACACATCCCTCACACCCCCAAC ACCCCCACACCCCCACACACCCCCCCACACCCACATCCCCCACACCCCAA ATCCCCCACACACCCCCCACATCTCCCCCACACCCCCCCACATCCCCCAC ACCCCCATCCCCCACACCTCCCCACACCCCCACACCCC		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(407): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	414	c.27 others(425): Show c.2765_*2766insAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG CGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGGGAGG CGGCGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCG		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding					795		chr8	TogoVar
DGKD_chr2_233349494_233477098	233397537	G G	GGGGGGGG others(407): Show GGGGGGGGGCAGAGTGAGAGGACACCAGAGGGGACCAGAGTGGCTGGCAG AGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCC AGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGT GAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGCCAGAGCGAG AGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCC AGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGG GGAGCAGGGTGGCTGGCGGGGGGCCAGAGCGAGGCGAGAGGACACCAGAG GGGACCAGGGTGGCT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0214 a0001c0001t0008g0214	1	336	0.0030	414	c.348 others(431): Show c.348+7062_348+7063insCAGAGTGAGAGGACACCAGAGGGGACCA GAGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTG GCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGG CAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGG GGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGCA GCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGA GTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAG AGGACACCAGAGGGGAGCAGGGTGGCTGGCGGGGGGCCAGAGCGAGGCGA GAGGACACCAGAGGGGACCAGGGTGGCTGGGGGGGG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	516830	G G	GGGGGGGG others(407): Show GGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGG GGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAG GGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTA GGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGG GGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGG ACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGG GGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGG GTGGGGGGGGACAGGGGGTAGGGTGGGGGGGACAGGGGGTAGGGTGGGGG GGGACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0060 a0001c0007t0007g0060	1	88	0.0114	414	c.86- others(431): Show c.86-30301_86-30300insACCCTACCCCGTCCCCCCCCACCCTACC CCCTGTCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTC CCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCC CACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCT ACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCG TGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCC CCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCA CCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTAC CCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	1039624	G G	GCATGGTC others(407): Show GCATGGTCAGCTCGGTGTGCATGGTCAGCTCGGTTTCCGTGGTCAGCTTG GTTTCTGTGGTCAGCTCGGTTTCTGTAGTCGGCTCGGTGTGTGTGGTTGG CTCGGTATGCATGTTCAGCTCGGTTTCCGTGGTCGGCTCGGTGTGCATGG TCGGCTCGGTGTGCATGTTCAGCTCGGTGTGCGTGGTCGGCTCATTGTGC ATGGTCGGCTCGGTATGCATGGTCAGCTCGGTGTGCGTGGTCAGCTCGGT GTGCATGGTCGGCTCAGTTTCCGTGGTCAGCTTGGTGTGCGTGGTCGGCT CGGTGTGCATGGTCTGCTCAGTTTCCGTGGTCAGCTCGGTTTCCGTGGTC AGCTCGGTGTGCATGGTTGGCTCGGTGTGCGTGGTCAGCTCGGTTTCCGT GGTCAGCTCGGTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG01071.hp2 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0011 a0002c0004t0026 a0002c0001t0011 a0002c0004t0026	a0002c0001t0011g0001 a0002c0004t0026g0016 a0002c0001t0011g0001 a0002c0004t0026g0016	2	40	0.0500	414	c.73+ others(433): Show c.73+131659_73+131660insATGGTCAGCTCGGTGTGCATGGTCAG CTCGGTTTCCGTGGTCAGCTTGGTTTCTGTGGTCAGCTCGGTTTCTGTAG TCGGCTCGGTGTGTGTGGTTGGCTCGGTATGCATGTTCAGCTCGGTTTCC GTGGTCGGCTCGGTGTGCATGGTCGGCTCGGTGTGCATGTTCAGCTCGGT GTGCGTGGTCGGCTCATTGTGCATGGTCGGCTCGGTATGCATGGTCAGCT CGGTGTGCGTGGTCAGCTCGGTGTGCATGGTCGGCTCAGTTTCCGTGGTC AGCTTGGTGTGCGTGGTCGGCTCGGTGTGCATGGTCTGCTCAGTTTCCGT GGTCAGCTCGGTTTCCGTGGTCAGCTCGGTGTGCATGGTTGGCTCGGTGT GCGTGGTCAGCTCGGTTTCCGTGGTCAGCTCGGTTTCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157369785	A A	ATTATTAT others(407): Show ATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTC ATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGC CTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAA CAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTA TTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACA TTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCT TCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCC TTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAAC AGGCCTTTCATAACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	372	0.0027	414	c.346 others(431): Show c.346+2381_346+2382insAACATTATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCC TTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGG GCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATT AAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTA TTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAA CGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGG CCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC5_chr20_63890126_63941011	63913074	C C	CGTCTCCA others(407): Show CGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCT GCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTC CTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTC CCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTC CCTGCCCAGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTC CCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACT GCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCT CCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACC GTCTCTCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02615.hp1 others(8): Show HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02976.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0053 a0001c0001t0002 a0001c0001t0053	a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0162 others(7): Show a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0162 a0001c0001t0002g0174 a0001c0001t0002g0190 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0256 a0001c0001t0002g0286 a0001c0001t0053g0030	11	372	0.0296	414	c.-11 others(433): Show c.-11-15237_-11-15236insCCTCTCCTGCTCCATCTCCCCATCTG CACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCC TGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCC CTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCC CTGCCCAGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCC CCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTG CCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTC CATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCG TCTCTCCCTGCCCAGTCTCCATCTCCCTGTCTGCACTG		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
DNAJC5_chr20_63890126_63941011	63913074	C C	CGTCTCCA others(407): Show CGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCT GCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTC CTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTC CCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTC CCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTC CCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACT GCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCT CCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACC GTCTCTCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(118): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0041 a0001c0001t0046 a0001c0001t0049 a0001c0001t0052 a0001c0001t0059 a0001c0002t0002 a0001c0002t0045 a0001c0006t0002	a0001c0001t0001g0207 a0001c0001t0001g0255 a0001c0001t0001g0258 others(101): Show a0001c0001t0001g0207 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0254 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0007g0259 a0001c0001t0007g0260 a0001c0001t0009g0234 a0001c0001t0009g0244 a0001c0001t0009g0245 a0001c0001t0009g0246 a0001c0001t0010g0201 a0001c0001t0010g0208 a0001c0001t0010g0221 a0001c0001t0010g0231 a0001c0001t0011g0188 a0001c0001t0011g0219 a0001c0001t0011g0220 a0001c0001t0018g0198 a0001c0001t0018g0235 a0001c0001t0019g0036 a0001c0001t0028g0238 a0001c0001t0030g0203 a0001c0001t0032g0212 a0001c0001t0041g0216 a0001c0001t0046g0002 a0001c0001t0049g0191 a0001c0001t0052g0006 a0001c0001t0059g0178 a0001c0002t0002g0012 a0001c0002t0002g0029 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0240 a0001c0002t0045g0012 a0001c0006t0002g0270	121	372	0.3253	414	c.-11 others(433): Show c.-11-15237_-11-15236insCCTCTCCTGCTCCATCTCCCCATCTG CACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCC TGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCC CTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCC CTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCC CCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTG CCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTC CATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCG TCTCTCCCTGCCCAGTCTCCATCTCCCTGTCTGCACTG		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(407): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATTT CTATATATGATATATATATCATATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATATGATATATATATCATATATTTCTAT ATATGATATATATAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	212	0.0047	414	c.316 others(433): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATATGATATATATATCATATATTTCTATATATGATATATATATCA TATATATGATATATATATCATATATTTCTATATATGATATATATATCATA TATATGATATATATATCATATATTTCTATATATGATATATATAATATATA TGATATATATATCATATATTTCTATATATGATATATAT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(407): Show CCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCA TCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATCAC CACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19074.hp1 NA19070.hp1 NA19074.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0001 a0002c0005 a0003c0001	a0002c0005t0001 a0003c0001t0001 a0002c0005t0001 a0003c0001t0001	a0002c0005t0001g0096 a0003c0001t0001g0154 a0002c0005t0001g0096 a0003c0001t0001g0154	2	256	0.0078	414	c.323 others(433): Show c.3234+1480_3234+1481insTCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCACCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)