Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
LMF1_chr16_848634_975984	961237	G G	GGTGACAG others(29): Show GGTGACAGCACGGGATCACGACCCAGACAGACTCACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01258.hp2 others(5): Show HG00741.hp2 HG01071.hp1 HG01258.hp2 HG01978.hp1 HG02683.hp1 HG03239.hp1 HG04204.hp1 NA18906.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0010 a0001c0033 a0002c0035 others(2): Show a0001c0010 a0001c0033 a0002c0035 a0005c0034 a0008c0036	a0001c0010t0001 a0001c0033t0001 a0002c0035t0001 others(2): Show a0001c0010t0001 a0001c0033t0001 a0002c0035t0001 a0005c0034t0015 a0008c0036t0003	a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 others(5): Show a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0033t0001g0275 a0002c0035t0001g0280 a0005c0034t0015g0274 a0008c0036t0003g0277	8	294	0.0272	36	c.194 others(53): Show c.194-6572_194-6571insTGTGAGTCTGTCTGGGTCGTGATCCCGT GCTGTCAC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961338	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp2 HG02300.hp1 HG00323.hp2 HG01361.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0010 a0002c0054 a0001c0005 a0001c0010 a0002c0054	a0001c0005t0012 a0001c0010t0001 a0002c0054t0001 a0001c0005t0012 a0001c0010t0001 a0002c0054t0001	a0001c0005t0012g0110 a0001c0010t0001g0115 a0002c0054t0001g0114 a0001c0005t0012g0110 a0001c0010t0001g0115 a0002c0054t0001g0114	3	294	0.0102	36	c.194 others(53): Show c.194-6708_194-6673dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961376	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG02109.hp2 others(1): Show HG00140.hp1 HG01243.hp1 HG02109.hp2 HG02976.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0005 a0007c0028 others(1): Show a0001c0001 a0001c0005 a0007c0028 a0009c0024	a0001c0001t0001 a0001c0005t0001 a0007c0028t0004 others(1): Show a0001c0001t0001 a0001c0005t0001 a0007c0028t0004 a0009c0024t0001	a0001c0001t0001g0024 a0001c0005t0001g0109 a0007c0028t0004g0017 others(1): Show a0001c0001t0001g0024 a0001c0005t0001g0109 a0007c0028t0004g0017 a0009c0024t0001g0118	4	294	0.0136	36	c.194 others(53): Show c.194-6746_194-6711dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961414	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG02896.hp2 HG02055.hp2 HG02886.hp1 HG02896.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0001c0023 a0006c0021 a0001c0003 a0001c0023 a0006c0021	a0001c0003t0001 a0001c0023t0001 a0006c0021t0006 a0001c0003t0001 a0001c0023t0001 a0006c0021t0006	a0001c0003t0001g0102 a0001c0023t0001g0244 a0006c0021t0006g0019 a0001c0003t0001g0102 a0001c0023t0001g0244 a0006c0021t0006g0019	3	294	0.0102	36	c.194 others(53): Show c.194-6784_194-6749dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961452	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACAACCCAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0292 a0001c0002t0011g0292	1	294	0.0034	36	c.194 others(53): Show c.194-6787_194-6786insCTGGGTTGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961452	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01928.hp1 HG01934.hp2 others(1): Show HG01081.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 others(1): Show a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116	4	294	0.0136	36	c.194 others(53): Show c.194-6822_194-6787dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961490	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0047 a0010c0047	a0010c0047t0010 a0010c0047t0010	a0010c0047t0010g0281 a0010c0047t0010g0281	1	294	0.0034	36	c.194 others(53): Show c.194-6860_194-6825dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961528	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG02451.hp1 HG02970.hp2	a0002 a0006 a0002 a0006	a0002c0052 a0006c0021 a0002c0052 a0006c0021	a0002c0052t0001 a0006c0021t0001 a0002c0052t0001 a0006c0021t0001	a0002c0052t0001g0018 a0006c0021t0001g0020 a0002c0052t0001g0018 a0006c0021t0001g0020	2	294	0.0068	36	c.194 others(53): Show c.194-6898_194-6863dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961640	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp1 others(15): Show HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01258.hp2 HG01884.hp1 HG01978.hp1 HG02129.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp2 HG03239.hp1 HG04204.hp1 NA20129.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0005 a0001c0006 others(4): Show a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0033 a0002c0035 a0008c0036	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0010t0001 a0001c0033t0001 a0002c0035t0001 a0008c0036t0003	a0001c0002t0001g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 others(15): Show a0001c0002t0001g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0005t0001g0248 a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0001g0290 a0001c0006t0002g0282 a0001c0006t0002g0283 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0033t0001g0275 a0002c0035t0001g0280 a0008c0036t0003g0277	18	294	0.0612	36	c.194 others(53): Show c.194-7010_194-6975dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961678	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01517.hp1 others(9): Show HG00099.hp1 HG00280.hp2 HG01517.hp1 HG02559.hp1 HG04228.hp2 NA18944.hp1 NA18952.hp2 NA18964.hp2 NA18970.hp2 NA18995.hp1 NA19012.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 a0001c0001t0001 a0001c0001t0019 a0001c0003t0001	a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 others(9): Show a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0019g0258 a0001c0003t0001g0250	12	294	0.0408	36	c.194 others(53): Show c.194-7048_194-7013dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961716	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02055.hp2 HG03579.hp2 others(1): Show HG00597.hp2 HG02055.hp2 HG03579.hp2 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0023 others(1): Show a0001c0001 a0001c0002 a0001c0023 a0010c0047	a0001c0001t0001 a0001c0002t0011 a0001c0023t0001 others(1): Show a0001c0001t0001 a0001c0002t0011 a0001c0023t0001 a0010c0047t0010	a0001c0001t0001g0247 a0001c0002t0011g0292 a0001c0023t0001g0244 others(1): Show a0001c0001t0001g0247 a0001c0002t0011g0292 a0001c0023t0001g0244 a0010c0047t0010g0281	4	294	0.0136	36	c.194 others(53): Show c.194-7086_194-7051dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	961904	C C	CACAGACT others(29): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01361.hp2 others(4): Show HG00323.hp2 HG01081.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0010 a0002c0054 a0001c0005 a0001c0010 a0002c0054	a0001c0005t0001 a0001c0005t0012 a0001c0010t0001 others(1): Show a0001c0005t0001 a0001c0005t0012 a0001c0010t0001 a0002c0054t0001	a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 others(4): Show a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0012g0110 a0001c0010t0001g0115 a0002c0054t0001g0114	7	294	0.0238	36	c.194 others(53): Show c.194-7274_194-7239dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMNA_chr1_156109711_156142866	156140160	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18969.hp2 NA18964.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0088 a0001c0001t0001g0053 a0001c0001t0001g0088	2	286	0.0070	36	c.23 others(47): Show c.2396_*2397insACACACACACACACACACACACACACACACACAC AC		LMNA	ENSG00000160789.24	transcript	ENST00000677389.1	protein_coding					2295		chr1	TogoVar
LMNA_chr1_156109711_156145081	156140160	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18969.hp2 NA18964.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0053 a0001c0001t0001g0087	2	286	0.0070	36	c.10 others(47): Show c.1054_*1055insACACACACACACACACACACACACACACACACAC AC		LMNA	ENSG00000160789.24	transcript	ENST00000368300.9	protein_coding					80		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GGAGAGAG others(29): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA19064.hp1 HG02056.hp2 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0108 a0002c0002t0002g0074 a0002c0002t0002g0108	2	400	0.0050	36	c.-84 others(45): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding					634		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(50): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02602.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02965.hp2 HG02970.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 NA18522.hp1 NA18612.hp1 NA18955.hp1 NA18965.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18995.hp1 NA19000.hp1 NA19030.hp1 NA19066.hp2 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0049 others(50): Show a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0209 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0003g0385 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0004g0369 a0001c0001t0004g0371 a0001c0001t0004g0372 a0001c0001t0004g0373 a0001c0001t0011g0290 a0002c0002t0002g0001 a0002c0002t0002g0023 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0080 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0118 a0002c0002t0002g0201 a0002c0002t0002g0235 a0002c0002t0002g0311	53	400	0.1325	36	c.-20 others(47): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding					1795		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0242 a0001c0001t0030g0242	1	428	0.0023	36	c.165 others(55): Show c.1657-1733_1657-1732insATATATATATATATTTTTTTTTTTTT TTTTTTTTTT		LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2						chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140135	T T	TGTCTGTC others(29): Show TGTCTGTCTGTCCGTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	390	0.0026	36	c.232 others(53): Show c.232-1262_232-1261insGTCTGTCTGTCCGTCCTTCCTTCCTTCC TTCCTTCC		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13						chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140139	T T	TGTCTGTC others(29): Show TGTCTGTCTGTCCGTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02300.hp2 HG01981.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0237 a0001c0001t0002g0238	2	390	0.0051	36	c.232 others(53): Show c.232-1258_232-1257insGTCTGTCTGTCCGTCCTTCCTTCCTTCC TTCCTTCC		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13						chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140139	T T	TGTCTGTC others(29): Show TGTCTGTCTGTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG03239.hp2 others(3): Show HG00140.hp1 HG01123.hp2 HG03239.hp2 NA18986.hp1 NA19012.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0002g0216 a0001c0001t0002g0239 a0001c0001t0002g0269 others(3): Show a0001c0001t0002g0216 a0001c0001t0002g0239 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0008t0001g0259	6	390	0.0154	36	c.232 others(53): Show c.232-1258_232-1257insGTCTGTCTGTCCTTCCTTCCTTCCTTCC TTCCTTCC		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13						chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140143	T T	TGTCTGTC others(29): Show TGTCTGTCTGTCCGTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	390	0.0026	36	c.232 others(53): Show c.232-1254_232-1253insGTCTGTCTGTCCGTCCTTCCTTCCTTCC TTCCTTCC		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13						chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140143	T T	TGTCTGTC others(29): Show TGTCTGTCTGTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02135.hp1 HG02280.hp1 others(1): Show HG00733.hp1 HG02135.hp1 HG02280.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0001t0002 a0001c0028t0045 a0001c0001t0001 a0001c0001t0002 a0001c0028t0045	a0001c0001t0001g0262 a0001c0001t0002g0280 a0001c0001t0002g0281 others(1): Show a0001c0001t0001g0262 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0028t0045g0263	4	390	0.0103	36	c.232 others(53): Show c.232-1254_232-1253insGTCTGTCTGTCCTTCCTTCCTTCCTTCC TTCCTTCC		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13						chr7	TogoVar
LMX1B_chr9_126608928_126706032	126661199	A A	ACCCCACG others(29): Show ACCCCACGCAGGGCGACCTCCCAGGCCAGCGTGGACG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	342	0.0029	36	c.327 others(55): Show c.327-29618_327-29617insCCAGGCCAGCGTGGACGCCCCACGCA GGGCGACCTC		LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
LMX1B_chr9_126608928_126706032	126661199	A A	ACCCCACG others(29): Show ACCCCACGCAGGGCGACCTCTCAGGCCAGCGTGGACG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00741.hp2 others(42): Show HG00558.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18973.hp1 NA18984.hp1 NA18986.hp2 NA18995.hp2 NA19054.hp1 NA19064.hp1 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(29): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0080 a0001c0001t0082 a0001c0002t0003 a0001c0002t0009 a0001c0002t0014 a0001c0002t0015 a0001c0002t0030 a0001c0002t0031 a0001c0002t0043 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0074 a0001c0002t0076 a0001c0002t0078 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0153 a0001c0002t0188 a0001c0002t0189 a0001c0002t0190 a0001c0003t0058 a0001c0003t0077 a0001c0003t0111 a0001c0010t0196 a0001c0011t0086	a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0004g0238 others(41): Show a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0004g0238 a0001c0001t0011g0330 a0001c0001t0080g0099 a0001c0001t0082g0097 a0001c0002t0003g0038 a0001c0002t0003g0243 a0001c0002t0003g0267 a0001c0002t0003g0292 a0001c0002t0003g0325 a0001c0002t0009g0092 a0001c0002t0009g0093 a0001c0002t0009g0104 a0001c0002t0009g0116 a0001c0002t0014g0105 a0001c0002t0014g0107 a0001c0002t0014g0118 a0001c0002t0015g0023 a0001c0002t0030g0090 a0001c0002t0030g0091 a0001c0002t0031g0002 a0001c0002t0043g0283 a0001c0002t0043g0290 a0001c0002t0070g0126 a0001c0002t0071g0100 a0001c0002t0072g0087 a0001c0002t0074g0127 a0001c0002t0076g0088 a0001c0002t0078g0072 a0001c0002t0089g0117 a0001c0002t0090g0106 a0001c0002t0091g0094 a0001c0002t0092g0133 a0001c0002t0093g0108 a0001c0002t0153g0291 a0001c0002t0188g0131 a0001c0002t0189g0178 a0001c0002t0190g0155 a0001c0003t0058g0132 a0001c0003t0077g0130 a0001c0003t0111g0067 a0001c0010t0196g0146 a0001c0011t0086g0077	45	342	0.1316	36	c.327 others(55): Show c.327-29617_327-29582dupTCAGGCCAGCGTGGACGCCCCACGCA GGGCGACCTC		LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
LMX1B_chr9_126608928_126706032	126661255	C C	CCAGGCCA others(29): Show CCAGGCCAGCGTGGACGCCCCACGCAGGGCGACCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(23): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp1 HG00741.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01952.hp2 HG02055.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02886.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0065 a0001c0001t0069 others(15): Show a0001c0001t0003 a0001c0001t0065 a0001c0001t0069 a0001c0001t0180 a0001c0002t0006 a0001c0002t0013 a0001c0002t0088 a0001c0002t0104 a0001c0002t0191 a0001c0002t0192 a0001c0002t0193 a0001c0004t0063 a0001c0004t0064 a0001c0004t0151 a0001c0004t0182 a0001c0004t0185 a0001c0004t0186 a0001c0004t0187	a0001c0001t0003g0241 a0001c0001t0065g0086 a0001c0001t0069g0125 others(23): Show a0001c0001t0003g0241 a0001c0001t0065g0086 a0001c0001t0069g0125 a0001c0001t0180g0198 a0001c0002t0006g0182 a0001c0002t0006g0184 a0001c0002t0006g0185 a0001c0002t0006g0186 a0001c0002t0006g0190 a0001c0002t0006g0191 a0001c0002t0013g0123 a0001c0002t0013g0175 a0001c0002t0013g0177 a0001c0002t0013g0183 a0001c0002t0088g0098 a0001c0002t0104g0194 a0001c0002t0191g0149 a0001c0002t0192g0197 a0001c0002t0193g0188 a0001c0004t0063g0080 a0001c0004t0064g0082 a0001c0004t0151g0065 a0001c0004t0182g0078 a0001c0004t0185g0096 a0001c0004t0186g0081 a0001c0004t0187g0083	26	342	0.0760	36	c.327 others(55): Show c.327-29562_327-29527dupCCACGCAGGGCGACCTCTCAGGCCAG CGTGGACGCC		LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0164 a0001c0001t0054g0164	1	368	0.0027	36	c.494 others(53): Show c.494-3893_494-3892insATATATATATATATATATATATATATAT ATATATAT		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12						chr2	TogoVar
LNPK_chr2_175918882_176007267	175951607	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0089 a0001c0001t0009g0089	1	368	0.0027	36	c.494 others(53): Show c.494-3916_494-3915insGATAGATATATATATATATATATATATA TATATATA		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12						chr2	TogoVar
LNX1_chr4_53454301_53596486	53492506	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18612.hp1 NA18943.hp1 others(1): Show HG01952.hp1 NA18612.hp1 NA18943.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0184 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0184 a0001c0001t0001g0262 a0001c0001t0001g0272	4	356	0.0112	36	c.135 others(55): Show c.1350+3481_1350+3516dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC		LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10						chr4	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0332 a0002c0002t0002g0332	1	358	0.0028	36	c.122 others(53): Show c.1225-581_1225-580insTATATATATATATATATATATATATATA TATATATA		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9						chr13	TogoVar
LNX2_chr13_27540913_27625529	27583202	G G	GCGCGCGT others(29): Show GCGCGCGTGCGCGCGCGTGTCCTCTCCAATATAACTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18955.hp1 NA18995.hp1 others(2): Show NA18949.hp1 NA18955.hp1 NA18995.hp1 NA19058.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0288 others(2): Show a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0288 a0001c0001t0003g0297 a0001c0001t0003g0314	5	358	0.0140	36	c.-10 others(55): Show c.-100-1400_-100-1399insAAGTTATATTGGAGAGGACACGCGCG CGCACGCGCG		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9						chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	358	0.0028	36	c.-10 others(55): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCGCGCGCGC ACACACACAC		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9						chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	358	0.0028	36	c.-10 others(55): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCGCGCACAC ACACACACAC		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9						chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19084.hp2 NA19079.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0133 a0002c0002t0001g0077 a0002c0002t0001g0133	2	358	0.0056	36	c.-10 others(55): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCGCACACAC ACACACACAC		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9						chr13	TogoVar
LOC102723971_chr9_135609183_135624893	135610205	C C	CAGAGAGA others(29): Show CAGAGAGACAGAGATGGAGAGACAGAGACAGACAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0019 a0004c0004t0004g0019	1	450	0.0022	36	c.-40 others(47): Show c.-4035_-4034insAGAGAGACAGAGATGGAGAGACAGAGACAGACAG AG		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					3977		chr9	TogoVar
LOC102723971_chr9_135609183_135624893	135620106	C C	CCTACTCC others(29): Show CCTACTCCCCCTTCTCCCCCTTCTCCCCCTTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	450	0.0022	36	c.11 others(47): Show c.1154_*1155insCTACTCCCCCTTCTCCCCCTTCTCCCCCTTCCCC CT		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					214		chr9	TogoVar
LOC112267897_chr13_63741741_63753176	63746933	G G	GGCTCCAG others(29): Show GGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0009 a0009c0019t0009	a0009c0019t0009g0000 a0009c0019t0009g0000	1	426	0.0024	36	c.136 others(43): Show c.136_137insCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCT	p.Gly others(47): Show p.Gly45_Cys46insSerSerTyrGlyCysGlyTyrGlyThrGlyTyrS er	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	197/1436	137/390	46/129		INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC114841035_chr11_64236095_64249132	64237083	C C	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	330	0.0030	36	c.-41 others(47): Show c.-4197_-4196insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					4011		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237085	A A	AAGAGAGA others(29): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	330	0.0030	36	c.-41 others(47): Show c.-4195_-4194insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					4009		chr11	TogoVar
LOC122319696_chrX_149409877_149420506	149418507	T T	TATTATAT others(29): Show TATTATATATATTATATTATATATATATAATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	313	0.0032	36	c.-30 others(47): Show c.-3031_-3030insTATTATATTATATATATATAATATAATATATATA AT		LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding					3002		chrX	TogoVar
LOC128462377_chr16_89312046_89423292	89381354	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0365 a0001c0001t0000g0365	1	366	0.0027	36	c.9+3 others(51): Show c.9+36929_9+36930insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01884.hp1 others(1): Show HG00639.hp1 HG00639.hp2 HG01884.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0201 a0001c0001t0000g0202 a0001c0001t0000g0203 others(1): Show a0001c0001t0000g0201 a0001c0001t0000g0202 a0001c0001t0000g0203 a0001c0001t0000g0204	4	366	0.0109	36	c.9+2 others(49): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC729966_chr19_18245034_18260362	18251681	C C	CCCCCCGC others(29): Show CCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG00642.hp2 others(19): Show HG00609.hp2 HG00642.hp1 HG00642.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01516.hp2 HG01934.hp1 HG02135.hp2 HG02300.hp1 HG03195.hp1 HG03654.hp1 NA18947.hp2 NA18969.hp1 NA18975.hp1 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA19057.hp1 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0062 a0002c0002t0001g0092 a0003c0003t0001g0007 others(5): Show a0001c0001t0001g0062 a0002c0002t0001g0092 a0003c0003t0001g0007 a0003c0003t0001g0021 a0003c0003t0001g0035 a0003c0003t0001g0078 a0003c0003t0001g0101 a0003c0003t0001g0104	22	454	0.0485	36	c.496 others(51): Show c.496+382_496+383insCGGGGGCGGGGGCGGGGGCGGGGGCGGGGG CGGGGG		LOC729966	ENSG00000284797.2	transcript	ENST00000643046.2	protein_coding	2/3						chr19	TogoVar
LOXHD1_chr18_46472273_46662220	46608035	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAACAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0105 a0003c0003t0001g0105	1	270	0.0037	36	c.759 others(53): Show c.759+2740_759+2741insTTCCTTCCTTCCTTGTTTCCTTCCTTCC TTCCTTCC		LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	6/40						chr18	TogoVar
LOXHD1_chr18_46472273_46662220	46608035	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00733.hp2 others(24): Show HG00099.hp1 HG00408.hp2 HG00733.hp2 HG00735.hp1 HG01516.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02300.hp1 HG02559.hp2 HG02622.hp1 HG02818.hp2 HG03017.hp1 HG03834.hp1 HG04199.hp1 NA18961.hp2 NA18994.hp1 NA19010.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19087.hp2 NA19090.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0014 a0016 a0028	a0001c0001 a0001c0009 a0002c0002 others(10): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0003c0058 a0004c0004 a0005c0005 a0005c0015 a0009c0070 a0011c0011 a0014c0012 a0016c0021 a0028c0077	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0003c0058t0001 a0004c0004t0001 a0005c0005t0001 a0005c0015t0001 a0009c0070t0001 a0011c0011t0001 a0014c0012t0001 a0016c0021t0001 a0028c0077t0001	a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0063 others(24): Show a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0262 a0001c0009t0001g0081 a0002c0002t0001g0091 a0002c0002t0001g0225 a0003c0003t0001g0050 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0255 a0003c0058t0001g0068 a0004c0004t0001g0076 a0005c0005t0001g0127 a0005c0015t0001g0231 a0009c0070t0001g0139 a0011c0011t0001g0170 a0014c0012t0001g0066 a0016c0021t0001g0171 a0028c0077t0001g0102	27	270	0.1000	36	c.759 others(53): Show c.759+2705_759+2740dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC		LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	6/40						chr18	TogoVar
LPA_chr6_160526482_160669275	160576350	A A	ATATATAT others(29): Show ATATATATATATATACATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02132.hp2 others(3): Show HG00621.hp1 HG00621.hp2 HG02132.hp2 HG04228.hp2 NA18970.hp1 NA19065.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0015 a0004c0004 others(1): Show a0001c0001 a0001c0015 a0004c0004 a0004c0046	a0001c0001t0002 a0001c0015t0001 a0004c0004t0002 others(1): Show a0001c0001t0002 a0001c0015t0001 a0004c0004t0002 a0004c0046t0002	a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0036 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0015t0001g0104 a0004c0004t0002g0032 a0004c0046t0002g0038	6	148	0.0405	36	c.463 others(53): Show c.4631+785_4631+786insCACATATATATATATATATATGTATATA TATATATA		LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	28/38						chr6	TogoVar
LPA_chr6_160526482_160669275	160576373	T T	TATATATA others(29): Show TATATATATATATGTGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0020 a0020	a0020c0035 a0020c0035	a0020c0035t0002 a0020c0035t0002	a0020c0035t0002g0022 a0020c0035t0002g0022	1	148	0.0068	36	c.463 others(53): Show c.4631+762_4631+763insGTATATATATATATATATATACACATAT ATATATAT		LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	28/38						chr6	TogoVar
LPA_chr6_160526482_160669275	160576373	T T	TATATATA others(29): Show TATATATATATGTGTATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03710.hp2 NA18990.hp2 others(1): Show HG02738.hp2 HG03710.hp2 NA18990.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 others(1): Show a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040	4	148	0.0270	36	c.463 others(53): Show c.4631+762_4631+763insGTGTATATATATATATATATATACACAT ATATATAT		LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	28/38						chr6	TogoVar
LPIN1_chr2_11741632_11832409	11775881	T T	TTATATAT others(29): Show TTATATATAATCTTTATATAAAGTATATTATATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0251 a0001c0001t0012g0251	1	278	0.0036	36	c.723 others(51): Show c.723-203_723-168dupATATATAATCTTTATATAAAGTATATTATA TATACT		LPIN1	ENSG00000134324.12	transcript	ENST00000674199.1	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
LPIN1_chr2_11741632_11832409	11775883	A A	ATATATAA others(29): Show ATATATAATCTTTATATAAAGTATATTATATATACTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	278	0.0036	36	c.723 others(51): Show c.723-191_723-156dupTATATAAAGTATATTATATATACTTTATAT AATCTT		LPIN1	ENSG00000134324.12	transcript	ENST00000674199.1	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
LPIN2_chr18_2911999_3018144	2956311	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG03139.hp2 others(1): Show HG01109.hp2 HG02145.hp1 HG03139.hp2 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0014 a0001c0001t0074 a0003c0013t0005 a0001c0001t0014 a0001c0001t0074 a0003c0013t0005	a0001c0001t0014g0007 a0001c0001t0014g0288 a0001c0001t0074g0005 others(1): Show a0001c0001t0014g0007 a0001c0001t0014g0288 a0001c0001t0074g0005 a0003c0013t0005g0116	4	380	0.0105	36	c.193 others(53): Show c.193-1713_193-1712insACACACACACACACACACACACACACAC ACACACAC		LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19						chr18	TogoVar

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