Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LIPI_chr21_14103813_14215955	14106198	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00673.hp1 others(10): Show HG00408.hp1 HG00642.hp1 HG00673.hp1 HG02572.hp2 HG02683.hp1 NA18977.hp2 NA18986.hp2 NA18989.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19084.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0008 a0005c0004 others(1): Show a0001c0001 a0001c0008 a0005c0004 a0006c0011	a0001c0001t0001 a0001c0008t0001 a0001c0008t0005 others(2): Show a0001c0001t0001 a0001c0008t0001 a0001c0008t0005 a0005c0004t0009 a0006c0011t0001	a0001c0001t0001g0009 a0001c0001t0001g0145 a0001c0001t0001g0148 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0008t0001g0303 a0001c0008t0005g0333 a0005c0004t0009g0021 a0006c0011t0001g0236	13	362	0.0359	-24	c.27 others(35): Show c.2771_*2794delATATATATATATATATATTTTTTT		LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding					2614		chr21	TogoVar
LIPI_chr21_14103813_14215955	14106200	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG02258.hp2 others(1): Show HG00642.hp2 HG01884.hp2 HG02258.hp2 NA18522.hp1	a0001 a0005 a0014 a0001 a0005 a0014	a0001c0001 a0005c0004 a0014c0016 a0001c0001 a0005c0004 a0014c0016	a0001c0001t0001 a0005c0004t0002 a0014c0016t0002 a0001c0001t0001 a0005c0004t0002 a0014c0016t0002	a0001c0001t0001g0212 a0005c0004t0002g0071 a0005c0004t0002g0088 others(1): Show a0001c0001t0001g0212 a0005c0004t0002g0071 a0005c0004t0002g0088 a0014c0016t0002g0054	4	362	0.0111	-24	c.27 others(35): Show c.2769_*2792delATATATATATATATATATATTTTT		LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding					2612		chr21	TogoVar
LIPN_chr10_88755020_88784626	88761755	CTATCTAT others(17): Show CTATCTATGTATCTATCTATCTATT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02723.hp1 others(6): Show HG01884.hp2 HG02559.hp1 HG02723.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp2 NA18906.hp2 NA18982.hp2 NA19076.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0007 others(3): Show a0001c0003 a0001c0004 a0001c0007 a0002c0001 a0002c0006 a0003c0008	a0001c0003t0001 a0001c0004t0001 a0001c0004t0011 others(4): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0011 a0001c0007t0012 a0002c0001t0001 a0002c0006t0010 a0003c0008t0001	a0001c0003t0001g0225 a0001c0004t0001g0266 a0001c0004t0011g0205 others(6): Show a0001c0003t0001g0225 a0001c0004t0001g0266 a0001c0004t0011g0205 a0001c0004t0011g0206 a0001c0004t0011g0207 a0001c0007t0012g0226 a0002c0001t0001g0124 a0002c0006t0010g0204 a0003c0008t0001g0208	9	394	0.0228	-24	c.108 others(39): Show c.108+250_108+273delGTATCTATCTATCTATTTATCTAT		LIPN	ENSG00000204020.6	transcript	ENST00000404459.2	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPT1_chr2_99149967_99168137	99161271	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	406	0.0025	-24	c.-1- others(37): Show c.-1-684_-1-661delAAAAAAAAAAAAAAAAAAAATATA		LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161287	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03139.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	2	406	0.0049	-24	c.-1- others(37): Show c.-1-668_-1-645delAAAATATATATATATATATATATA		LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
LLGL2_chr17_75520697_75580209	75546554	CCCAGCAG others(17): Show CCCAGCAGACAGGCGGAGGGCAGGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19043.hp2 HG03688.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0023 a0002c0006 a0001c0023 a0002c0006	a0001c0023t0002 a0002c0006t0003 a0001c0023t0002 a0002c0006t0003	a0001c0023t0002g0229 a0002c0006t0003g0088 a0001c0023t0002g0229 a0002c0006t0003g0088	2	382	0.0052	-24	c.75+ others(39): Show c.75+3185_75+3208delGCGGAGGGCAGGTCCAGCAGACAG		LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75546686	GCGGAGGG others(17): Show GCGGAGGGCAGGTCCAGCAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0275 a0003c0002t0002g0275	1	382	0.0026	-24	c.75+ others(39): Show c.75+3209_75+3232delACGGAGGGCAGGTCCAGCAGACAG		LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75546758	GCGGAGGG others(17): Show GCGGAGGGCAGGTCCAGCAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19079.hp1 HG00544.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0357 a0001c0001t0002g0358	2	382	0.0052	-24	c.75+ others(39): Show c.75+3281_75+3304delACGGAGGGCAGGTCCAGCAGACAG		LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75546782	ACGGAGGG others(17): Show ACGGAGGGCAGGTCCAGCAGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02486.hp1 others(13): Show HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG03041.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp1 NA18955.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0008 a0014	a0002c0004 a0002c0006 a0002c0048 others(5): Show a0002c0004 a0002c0006 a0002c0048 a0003c0002 a0004c0007 a0008c0041 a0008c0044 a0014c0020	a0002c0004t0003 a0002c0006t0003 a0002c0048t0004 others(5): Show a0002c0004t0003 a0002c0006t0003 a0002c0048t0004 a0003c0002t0002 a0004c0007t0003 a0008c0041t0003 a0008c0044t0003 a0014c0020t0003	a0002c0004t0003g0063 a0002c0004t0003g0089 a0002c0006t0003g0004 others(12): Show a0002c0004t0003g0063 a0002c0004t0003g0089 a0002c0006t0003g0004 a0002c0006t0003g0085 a0002c0006t0003g0086 a0002c0006t0003g0088 a0002c0006t0003g0093 a0002c0006t0003g0096 a0002c0006t0003g0210 a0002c0048t0004g0087 a0003c0002t0002g0267 a0004c0007t0003g0091 a0008c0041t0003g0092 a0008c0044t0003g0097 a0014c0020t0003g0094	16	382	0.0419	-24	c.75+ others(39): Show c.75+3347_75+3370delAGACAGGCGGAGGGCAGGTCCAGC		LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
LMAN2_chr5_177326567_177356668	177326849	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18950.hp2 NA18941.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0159 a0001c0001t0001g0005 a0001c0001t0001g0159	2	376	0.0053	-24	c.52 others(35): Show c.5213_*5236delTTCTCTTTCTTTCTTTCTTTCTTT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding					4717		chr5	TogoVar
LMAN2_chr5_177326567_177356668	177326853	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	376	0.0027	-24	c.52 others(35): Show c.5209_*5232delTTCTTTCTCTTTCTTTCTTTCTTT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding					4713		chr5	TogoVar
LMAN2_chr5_177326567_177356668	177326857	GAAAGAAA others(17): Show GAAAGAAAGAAAGAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 NA18961.hp2 NA20752.hp1 HG01515.hp1 NA18961.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0028 a0001c0001t0001g0064 a0003c0006t0001g0160 a0001c0001t0001g0028 a0001c0001t0001g0064 a0003c0006t0001g0160	3	376	0.0080	-24	c.52 others(35): Show c.5205_*5228delTTCTTTCTTTCTCTTTCTTTCTTT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding					4709		chr5	TogoVar
LMAN2_chr5_177326567_177356668	177326865	GAAAGAGA others(17): Show GAAAGAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	376	0.0027	-24	c.51 others(35): Show c.5197_*5220delTTCTTTCTTTCTTTCTTTCTCTTT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding					4701		chr5	TogoVar
LMBRD1_chr6_69669010_69802010	69774948	TGGAAGGA others(17): Show TGGAAGGAAGGAAGGAAGGAAGGAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02723.hp1 others(1): Show HG02145.hp1 HG02258.hp2 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 others(1): Show a0001c0001t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062	4	348	0.0115	-24	c.307 others(41): Show c.307+5522_307+5545delTTCCTTCCTTCCTTCCTTCCTTCC		LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15						chr6	TogoVar
LMBRD1_chr6_69669010_69802010	69774975	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0010g0205 a0001c0001t0010g0206	2	348	0.0058	-24	c.307 others(41): Show c.307+5495_307+5518delCCCTCCCTCCCTTCCTTCCTTCCT		LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15						chr6	TogoVar
LMF1_chr16_848634_975984	858332	GAGTGGTG others(17): Show GAGTGGTGTCTCGGGACGGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0117 a0009c0024t0001g0118 a0009c0024t0001g0117 a0009c0024t0001g0118	2	294	0.0068	-24	c.153 others(43): Show c.1530-3650_1530-3627delGCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859901	GGGTGTGC others(17): Show GGGTGTGCAGTGGTGTCACGGGATC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0047 a0010c0047	a0010c0047t0010 a0010c0047t0010	a0010c0047t0010g0281 a0010c0047t0010g0281	1	294	0.0034	-24	c.153 others(43): Show c.1530-5219_1530-5196delGATCCCGTGACACCACTGCACACC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	889343	GGGGTGTG others(17): Show GGGGTGTGAGGCTGCGGATGGCCAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02129.hp1 HG03098.hp1 others(2): Show HG00323.hp1 HG02129.hp1 HG03098.hp1 HG03453.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0026	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0026t0001	a0001c0001t0001g0165 a0001c0004t0001g0067 a0001c0005t0001g0248 others(2): Show a0001c0001t0001g0165 a0001c0004t0001g0067 a0001c0005t0001g0248 a0001c0026t0001g0234 a0001c0026t0001g0235	5	294	0.0170	-24	c.729 others(41): Show c.729+3640_729+3663delATGGCCATCCGCAGCCTCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10						chr16	TogoVar
LMF1_chr16_848634_975984	889366	ATGGGTGT others(17): Show ATGGGTGTGAGGCTGCGGATGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0049 a0006c0049	a0006c0049t0001 a0006c0049t0001	a0006c0049t0001g0243 a0006c0049t0001g0243	1	294	0.0034	-24	c.729 others(41): Show c.729+3617_729+3640delCGGCCATCCGCAGCCTCACACCCA		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10						chr16	TogoVar
LMF1_chr16_848634_975984	889381	CGGATGGC others(17): Show CGGATGGCCGTGGGTGTGAGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG01884.hp1 HG02486.hp1 HG02559.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0002 a0001c0006t0001 a0001c0006t0002	a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 others(3): Show a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0002g0282 a0001c0006t0002g0283	6	294	0.0204	-24	c.729 others(41): Show c.729+3602_729+3625delACAGCCTCACACCCACGGCCATCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10						chr16	TogoVar
LMNTD1_chr12_25471082_25558283	25520139	GATATACA others(17): Show GATATACATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	388	0.0026	-24	c.799 others(37): Show c.799-88_799-65delATATATATATATATATATGTATAT		LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	6/9						chr12	TogoVar
LMNTD1_chr12_25471082_25558283	25527640	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	388	0.0026	-24	c.492 others(39): Show c.492-709_492-686delTATATATATATATATATATATATA		LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	4/9						chr12	TogoVar
LMNTD1_chr12_25471082_25558283	25527667	TATATATA others(17): Show TATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	388	0.0026	-24	c.492 others(39): Show c.492-736_492-713delGTGTGTGTGTATATATATATATAT		LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	4/9						chr12	TogoVar
LMNTD1_chr12_25471082_25558283	25527679	TATACACA others(17): Show TATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG03579.hp1 others(1): Show HG02451.hp2 HG02615.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160	4	388	0.0103	-24	c.492 others(39): Show c.492-748_492-725delGTGTGTGTGTGTGTGTGTGTGTAT		LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	4/9						chr12	TogoVar
LMO3_chr12_16543372_16611162	16565983	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02129.hp1 HG02486.hp2 others(2): Show HG01192.hp1 HG02129.hp1 HG02486.hp2 HG02630.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0124 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0305	5	354	0.0141	-24	c.207 others(41): Show c.207-5469_207-5446delATATATATATATATATATATATAT		LMO3	ENSG00000048540.16	transcript	ENST00000537304.6	protein_coding	2/3						chr12	TogoVar
LMO7_chr13_75631330_75864866	75655637	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00621.hp1 others(66): Show HG00099.hp2 HG00280.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01993.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18941.hp1 NA18942.hp1 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18970.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19070.hp1 NA19076.hp2 NA19091.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0007 a0008 a0012 a0013 a0014 a0016 a0017 a0019 a0020	a0001c0001 a0001c0019 a0001c0020 others(16): Show a0001c0001 a0001c0019 a0001c0020 a0002c0003 a0002c0007 a0002c0011 a0003c0002 a0004c0004 a0004c0013 a0007c0009 a0007c0016 a0008c0008 a0012c0014 a0013c0018 a0014c0017 a0016c0024 a0017c0023 a0019c0034 a0020c0033	a0001c0001t0002 a0001c0001t0008 a0001c0019t0002 others(19): Show a0001c0001t0002 a0001c0001t0008 a0001c0019t0002 a0001c0020t0002 a0002c0003t0005 a0002c0007t0004 a0002c0011t0002 a0003c0002t0002 a0004c0004t0002 a0004c0004t0004 a0004c0013t0002 a0007c0009t0002 a0007c0016t0001 a0008c0008t0002 a0008c0008t0004 a0012c0014t0007 a0013c0018t0004 a0014c0017t0002 a0016c0024t0002 a0017c0023t0002 a0019c0034t0002 a0020c0033t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 others(65): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0265 a0001c0001t0008g0044 a0001c0019t0002g0267 a0001c0019t0002g0268 a0001c0020t0002g0269 a0001c0020t0002g0271 a0002c0003t0005g0030 a0002c0003t0005g0033 a0002c0003t0005g0070 a0002c0007t0004g0260 a0002c0011t0002g0038 a0002c0011t0002g0076 a0002c0011t0002g0084 a0003c0002t0002g0046 a0004c0004t0002g0032 a0004c0004t0002g0060 a0004c0004t0004g0081 a0004c0013t0002g0019 a0004c0013t0002g0057 a0007c0009t0002g0067 a0007c0016t0001g0001 a0007c0016t0001g0252 a0008c0008t0002g0077 a0008c0008t0004g0087 a0012c0014t0007g0049 a0013c0018t0004g0056 a0014c0017t0002g0037 a0016c0024t0002g0086 a0017c0023t0002g0050 a0019c0034t0002g0073 a0020c0033t0002g0074	69	272	0.2537	-24	c.69+ others(41): Show c.69+18941_69+18964delATATATATATATATATATATATAT		LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75757790	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00609.hp2 others(91): Show HG00099.hp1 HG00280.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19070.hp1 NA19076.hp2 NA19085.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0021 a0023	a0001c0001 a0001c0019 a0001c0020 others(16): Show a0001c0001 a0001c0019 a0001c0020 a0001c0021 a0002c0003 a0003c0002 a0004c0004 a0005c0005 a0006c0006 a0009c0010 a0010c0012 a0012c0014 a0013c0018 a0014c0017 a0015c0029 a0016c0024 a0017c0023 a0021c0026 a0023c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0019t0002 a0001c0020t0002 a0001c0021t0001 a0002c0003t0005 a0003c0002t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0006 a0004c0004t0010 a0005c0005t0003 a0006c0006t0001 a0009c0010t0002 a0010c0012t0001 a0010c0012t0002 a0012c0014t0007 a0013c0018t0004 a0014c0017t0002 a0015c0029t0001 a0016c0024t0002 a0017c0023t0002 a0021c0026t0001 a0023c0022t0001	a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 others(91): Show a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0265 a0001c0001t0003g0153 a0001c0001t0008g0044 a0001c0019t0002g0267 a0001c0019t0002g0268 a0001c0020t0002g0269 a0001c0020t0002g0271 a0001c0021t0001g0182 a0002c0003t0005g0033 a0003c0002t0002g0064 a0004c0004t0001g0120 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0199 a0004c0004t0002g0060 a0004c0004t0004g0081 a0004c0004t0006g0103 a0004c0004t0010g0119 a0005c0005t0003g0115 a0006c0006t0001g0174 a0006c0006t0001g0175 a0009c0010t0002g0015 a0010c0012t0001g0140 a0010c0012t0002g0105 a0012c0014t0007g0049 a0013c0018t0004g0010 a0013c0018t0004g0011 a0013c0018t0004g0056 a0014c0017t0002g0027 a0014c0017t0002g0028 a0014c0017t0002g0037 a0015c0029t0001g0118 a0016c0024t0002g0086 a0017c0023t0002g0050 a0021c0026t0001g0122 a0023c0022t0001g0136	94	272	0.3456	-24	c.211 others(41): Show c.211-3114_211-3091delGTGTGTGTGTGTGTGTGTGTGTGT		LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75776162	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01081.hp2 others(8): Show HG00280.hp1 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01433.hp2 HG01891.hp2 HG03098.hp2 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA20300.hp2	a0003 a0007 a0009 others(1): Show a0003 a0007 a0009 a0010	a0003c0002 a0007c0009 a0009c0010 others(1): Show a0003c0002 a0007c0009 a0009c0010 a0010c0012	a0003c0002t0001 a0007c0009t0001 a0009c0010t0001 others(3): Show a0003c0002t0001 a0007c0009t0001 a0009c0010t0001 a0009c0010t0002 a0009c0010t0003 a0010c0012t0001	a0003c0002t0001g0141 a0003c0002t0001g0157 a0003c0002t0001g0158 others(8): Show a0003c0002t0001g0141 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0179 a0007c0009t0001g0152 a0009c0010t0001g0248 a0009c0010t0001g0249 a0009c0010t0001g0250 a0009c0010t0002g0015 a0009c0010t0003g0244 a0010c0012t0001g0247	11	272	0.0404	-24	c.317 others(43): Show c.317+15144_317+15167delTATATATATATATATATATATATA		LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr13	TogoVar
LMOD1_chr1_201891456_201951548	201924661	AAAAAAAA others(17): Show AAAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	400	0.0025	-24	c.261 others(43): Show c.261+21395_261+21418delCTTTCTTTCTTTCTTTCTTTTTTT		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2						chr1	TogoVar
LMOD1_chr1_201891456_201951548	201924665	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(27): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01928.hp1 HG02148.hp2 HG02273.hp1 HG02698.hp1 HG02698.hp2 HG02896.hp2 HG03017.hp2 HG03491.hp1 HG03540.hp2 HG03704.hp1 NA18522.hp2 NA18955.hp1 NA18957.hp2 NA19007.hp2 NA19043.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0048 others(26): Show a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0286 a0001c0001t0001g0301 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0362 a0001c0001t0001g0363 a0002c0002t0002g0002 a0002c0002t0002g0028 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0043 a0002c0002t0002g0077	30	400	0.0750	-24	c.261 others(43): Show c.261+21391_261+21414delCTTTCTTTCTTTCTTTCTTTCTTT		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2						chr1	TogoVar
LMOD3_chr3_69101065_69127595	69107453	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02647.hp2 others(3): Show HG02257.hp2 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG02818.hp2 NA19240.hp2	a0002 a0002	a0002c0005 a0002c0012 a0002c0021 a0002c0005 a0002c0012 a0002c0021	a0002c0005t0022 a0002c0005t0075 a0002c0012t0146 others(1): Show a0002c0005t0022 a0002c0005t0075 a0002c0012t0146 a0002c0021t0022	a0002c0005t0022g0016 a0002c0005t0022g0052 a0002c0005t0075g0051 others(2): Show a0002c0005t0022g0016 a0002c0005t0022g0052 a0002c0005t0075g0051 a0002c0012t0146g0338 a0002c0021t0022g0151	6	428	0.0140	-24	c.16 others(35): Show c.1618_*1641delAAAAAAAAAAAAAAAAAAAAAAAA		LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	3/3				1618		chr3	TogoVar
LMTK3_chr19_48480271_48516835	48480883	CGTGGCAG others(17): Show CGTGGCAGGCAGAGGCAGGAAGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0001 a0000c0001t0001	a0000c0001t0001g0248 a0000c0001t0001g0248	1	314	0.0032	-24	c.48 others(35): Show c.4866_*4889delCCTCTTCCTGCCTCTGCCTGCCAC		LMTK3	ENSG00000142235.13	transcript	ENST00000600059.6	protein_coding					4387		chr19	TogoVar
LMX1B_chr9_126608928_126706032	126705964	TCCGTGGC others(17): Show TCCGTGGCCCCGCTTACCCGCAGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(113): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03654.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 others(56): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0037 a0001c0001t0041 a0001c0001t0051 a0001c0001t0061 a0001c0001t0065 a0001c0001t0085 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0119 a0001c0001t0120 a0001c0001t0125 a0001c0001t0127 a0001c0001t0129 a0001c0001t0136 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0144 a0001c0001t0166 a0001c0001t0176 a0001c0001t0177 a0001c0001t0180 a0001c0001t0183 a0001c0002t0001 a0001c0002t0009 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0022 a0001c0002t0031 a0001c0002t0032 a0001c0002t0047 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0076 a0001c0002t0078 a0001c0002t0089 a0001c0002t0091 a0001c0002t0094 a0001c0002t0154 a0001c0002t0155 a0001c0002t0156 a0001c0002t0158 a0001c0002t0160 a0001c0002t0161 a0001c0002t0162 a0001c0002t0165 a0001c0002t0188 a0001c0002t0191 a0001c0003t0110	a0001c0001t0004g0053 a0001c0001t0004g0238 a0001c0001t0004g0259 others(112): Show a0001c0001t0004g0053 a0001c0001t0004g0238 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0005g0212 a0001c0001t0005g0258 a0001c0001t0005g0274 a0001c0001t0005g0278 a0001c0001t0005g0285 a0001c0001t0005g0300 a0001c0001t0011g0061 a0001c0001t0011g0214 a0001c0001t0011g0314 a0001c0001t0011g0330 a0001c0001t0019g0265 a0001c0001t0019g0266 a0001c0001t0019g0316 a0001c0001t0020g0256 a0001c0001t0020g0269 a0001c0001t0020g0313 a0001c0001t0029g0112 a0001c0001t0029g0113 a0001c0001t0037g0004 a0001c0001t0037g0334 a0001c0001t0041g0304 a0001c0001t0041g0324 a0001c0001t0051g0075 a0001c0001t0051g0167 a0001c0001t0061g0101 a0001c0001t0065g0086 a0001c0001t0085g0068 a0001c0001t0097g0217 a0001c0001t0098g0318 a0001c0001t0099g0315 a0001c0001t0119g0293 a0001c0001t0120g0219 a0001c0001t0125g0253 a0001c0001t0127g0275 a0001c0001t0129g0294 a0001c0001t0136g0295 a0001c0001t0138g0303 a0001c0001t0139g0302 a0001c0001t0140g0249 a0001c0001t0141g0268 a0001c0001t0144g0282 a0001c0001t0166g0239 a0001c0001t0176g0172 a0001c0001t0177g0120 a0001c0001t0180g0198 a0001c0001t0183g0154 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0286 a0001c0002t0001g0306 a0001c0002t0001g0321 a0001c0002t0009g0093 a0001c0002t0015g0014 a0001c0002t0015g0020 a0001c0002t0015g0023 a0001c0002t0016g0017 a0001c0002t0016g0059 a0001c0002t0021g0001 a0001c0002t0021g0009 a0001c0002t0021g0289 a0001c0002t0022g0028 a0001c0002t0022g0042 a0001c0002t0022g0049 a0001c0002t0031g0002 a0001c0002t0032g0013 a0001c0002t0032g0022 a0001c0002t0047g0047 a0001c0002t0047g0277 a0001c0002t0072g0087 a0001c0002t0073g0071 a0001c0002t0074g0127 a0001c0002t0076g0088 a0001c0002t0078g0072 a0001c0002t0089g0117 a0001c0002t0091g0094 a0001c0002t0094g0103 a0001c0002t0154g0299 a0001c0002t0155g0240 a0001c0002t0156g0027 a0001c0002t0158g0050 a0001c0002t0160g0323 a0001c0002t0161g0008 a0001c0002t0162g0032 a0001c0002t0165g0298 a0001c0002t0188g0131 a0001c0002t0191g0149 a0001c0003t0110g0134	116	342	0.3392	-24	c.95 others(35): Show c.9514_*9537delCCGTGGCCCCGCTTACCCGCAGCA		LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding					4933		chr9	TogoVar
LNP1_chr3_100396539_100461319	100431990	GTTTATAT others(17): Show GTTTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02896.hp1 HG06807.hp1 HG01346.hp1 HG02896.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0272 a0001c0001t0001g0366 a0001c0001t0001g0368	3	398	0.0075	-24	c.156 others(41): Show c.156+2107_156+2130delTTATATATATATATATATATATAT		LNP1	ENSG00000206535.8	transcript	ENST00000383693.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
LNPK_chr2_175918882_176007267	175930275	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00621.hp2 others(63): Show HG00140.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG01081.hp1 HG01109.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp2 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18975.hp1 NA18981.hp2 NA18988.hp2 NA18993.hp2 NA18999.hp1 NA19003.hp1 NA19006.hp1 NA19030.hp1 NA19058.hp1 NA19066.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(15): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0034 a0001c0001t0052 a0001c0001t0054 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0069 a0005c0003t0051	a0001c0001t0006g0153 a0001c0001t0006g0157 a0001c0001t0006g0163 others(61): Show a0001c0001t0006g0153 a0001c0001t0006g0157 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0175 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0132 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0144 a0001c0001t0009g0145 a0001c0001t0009g0146 a0001c0001t0010g0152 a0001c0001t0010g0154 a0001c0001t0010g0155 a0001c0001t0010g0162 a0001c0001t0010g0177 a0001c0001t0010g0178 a0001c0001t0010g0338 a0001c0001t0011g0008 a0001c0001t0011g0183 a0001c0001t0011g0184 a0001c0001t0011g0185 a0001c0001t0011g0186 a0001c0001t0011g0187 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0012g0139 a0001c0001t0012g0140 a0001c0001t0012g0141 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0013g0007 a0001c0001t0013g0121 a0001c0001t0013g0126 a0001c0001t0013g0127 a0001c0001t0013g0128 a0001c0001t0013g0129 a0001c0001t0024g0156 a0001c0001t0024g0174 a0001c0001t0024g0176 a0001c0001t0034g0159 a0001c0001t0034g0160 a0001c0001t0052g0179 a0001c0001t0054g0164 a0001c0001t0059g0161 a0001c0001t0060g0170 a0001c0001t0061g0138 a0001c0001t0062g0193 a0001c0001t0063g0135 a0001c0001t0064g0192 a0001c0001t0069g0158 a0005c0003t0051g0124	66	368	0.1794	-24	c.105 others(40): Show c.1055-100_1055-77delGTGTGTGTGTGTGTGTGTGTGTGT		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	12/12						chr2	TogoVar
LNX2_chr13_27540913_27625529	27583169	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02523.hp2 NA19012.hp1 HG01978.hp2 HG02523.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0018 a0002c0002t0001 a0001c0001t0018 a0002c0002t0001	a0001c0001t0018g0337 a0002c0002t0001g0066 a0002c0002t0001g0149 a0001c0001t0018g0337 a0002c0002t0001g0066 a0002c0002t0001g0149	3	358	0.0084	-24	c.-10 others(43): Show c.-100-1390_-100-1367delACACACACACACACACACACACAC		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9						chr13	TogoVar
LOC102723971_chr9_135609183_135624893	135620109	ACTCCCCC others(17): Show ACTCCCCCTTCTCCCCCTACTCCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 NA18941.hp2 others(2): Show HG00408.hp1 HG00408.hp2 NA18941.hp2 NA18953.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0001 a0001c0001t0001g0047	5	450	0.0111	-24	c.11 others(35): Show c.1158_*1181delCTCCCCCTTCTCCCCCTACTCCTT		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					217		chr9	TogoVar
LOC112267897_chr13_63741741_63753176	63746981	GGCTGTGG others(17): Show GGCTGTGGCTATGGAACTGGCTACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 HG01358.hp2 HG02004.hp2 others(2): Show HG00558.hp2 HG01358.hp2 HG02004.hp2 HG03516.hp2 NA19064.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0023 a0007c0007t0001 a0007c0007t0023	a0007c0007t0001g0000 a0007c0007t0023g0000 a0007c0007t0001g0000 a0007c0007t0023g0000	5	426	0.0117	-24	c.195 others(31): Show c.195_218delAACTGGCTACAGCTGTGGCTATGG	p.Thr others(11): Show p.Thr66_Gly73del	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	255/1436	195/390	65/129		INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC122539214_chr19_52645447_52695496	52682674	CAAGAAAA others(17): Show CAAGAAAAAGAAAAAGAAAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(127): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03139.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0002c0016 others(3): Show a0001c0001 a0002c0002 a0002c0016 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0042 a0002c0002t0003 a0002c0002t0004 a0002c0002t0019 a0002c0002t0023 a0002c0016t0004 a0003c0003t0002 a0003c0003t0013 a0003c0003t0036 a0003c0003t0039 a0004c0004t0005 a0005c0005t0007 a0005c0005t0033 a0005c0005t0034	a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0089 others(121): Show a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0323 a0001c0001t0006g0165 a0001c0001t0006g0193 a0001c0001t0006g0228 a0001c0001t0008g0101 a0001c0001t0008g0149 a0001c0001t0009g0075 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0010g0017 a0001c0001t0010g0106 a0001c0001t0010g0159 a0001c0001t0010g0169 a0001c0001t0011g0006 a0001c0001t0011g0115 a0001c0001t0011g0116 a0001c0001t0011g0118 a0001c0001t0011g0261 a0001c0001t0011g0262 a0001c0001t0026g0153 a0001c0001t0029g0119 a0001c0001t0030g0130 a0001c0001t0042g0189 a0002c0002t0003g0002 a0002c0002t0003g0015 a0002c0002t0003g0070 a0002c0002t0003g0097 a0002c0002t0003g0114 a0002c0002t0003g0141 a0002c0002t0003g0198 a0002c0002t0003g0220 a0002c0002t0003g0256 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0077 a0002c0002t0004g0148 a0002c0002t0004g0152 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0161 a0002c0002t0004g0162 a0002c0002t0004g0166 a0002c0002t0004g0171 a0002c0002t0004g0177 a0002c0002t0004g0180 a0002c0002t0004g0181 a0002c0002t0004g0184 a0002c0002t0004g0185 a0002c0002t0004g0187 a0002c0002t0004g0188 a0002c0002t0004g0229 a0002c0002t0004g0272 a0002c0002t0019g0254 a0002c0002t0019g0263 a0002c0002t0023g0176 a0002c0016t0004g0158 a0003c0003t0002g0005 a0003c0003t0002g0074 a0003c0003t0002g0086 a0003c0003t0002g0100 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0110 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0140 a0003c0003t0002g0143 a0003c0003t0002g0146 a0003c0003t0002g0147 a0003c0003t0002g0160 a0003c0003t0002g0163 a0003c0003t0002g0164 a0003c0003t0002g0168 a0003c0003t0002g0170 a0003c0003t0002g0172 a0003c0003t0002g0178 a0003c0003t0002g0182 a0003c0003t0002g0186 a0003c0003t0002g0200 a0003c0003t0002g0231 a0003c0003t0002g0232 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0257 a0003c0003t0002g0259 a0003c0003t0002g0265 a0003c0003t0002g0266 a0003c0003t0002g0269 a0003c0003t0002g0270 a0003c0003t0002g0271 a0003c0003t0002g0273 a0003c0003t0002g0274 a0003c0003t0002g0276 a0003c0003t0002g0277 a0003c0003t0002g0279 a0003c0003t0002g0301 a0003c0003t0002g0396 a0003c0003t0013g0111 a0003c0003t0013g0126 a0003c0003t0013g0233 a0003c0003t0036g0183 a0003c0003t0039g0157 a0004c0004t0005g0068 a0005c0005t0007g0275 a0005c0005t0007g0287 a0005c0005t0033g0288 a0005c0005t0034g0154	130	452	0.2876	-24	c.-20 others(41): Show c.-20+7745_-20+7768delTTTCTTTTTCTTTTTCTTTTTCTT		LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	1/3						chr19	TogoVar
LOC122539214_chr19_52645447_52695496	52683228	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(105): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01433.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02698.hp1 HG02735.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19012.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0002c0002 a0002c0016 others(3): Show a0001c0001 a0002c0002 a0002c0016 a0003c0003 a0005c0005 a0013c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0026 a0001c0001t0030 a0001c0001t0042 a0002c0002t0003 a0002c0002t0004 a0002c0016t0004 a0003c0003t0002 a0003c0003t0013 a0003c0003t0036 a0003c0003t0039 a0005c0005t0007 a0005c0005t0033 a0005c0005t0034 a0013c0018t0001	a0001c0001t0001g0007 a0001c0001t0001g0120 a0001c0001t0001g0121 others(100): Show a0001c0001t0001g0007 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0221 a0001c0001t0001g0342 a0001c0001t0006g0165 a0001c0001t0006g0228 a0001c0001t0008g0101 a0001c0001t0008g0149 a0001c0001t0009g0124 a0001c0001t0010g0106 a0001c0001t0010g0159 a0001c0001t0010g0169 a0001c0001t0026g0153 a0001c0001t0030g0130 a0001c0001t0042g0189 a0002c0002t0003g0002 a0002c0002t0003g0015 a0002c0002t0003g0141 a0002c0002t0003g0250 a0002c0002t0003g0256 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0077 a0002c0002t0004g0122 a0002c0002t0004g0148 a0002c0002t0004g0152 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0161 a0002c0002t0004g0162 a0002c0002t0004g0166 a0002c0002t0004g0171 a0002c0002t0004g0177 a0002c0002t0004g0180 a0002c0002t0004g0181 a0002c0002t0004g0184 a0002c0002t0004g0185 a0002c0002t0004g0187 a0002c0002t0004g0188 a0002c0002t0004g0229 a0002c0002t0004g0272 a0002c0016t0004g0158 a0003c0003t0002g0074 a0003c0003t0002g0100 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0110 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0123 a0003c0003t0002g0129 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0143 a0003c0003t0002g0146 a0003c0003t0002g0147 a0003c0003t0002g0160 a0003c0003t0002g0163 a0003c0003t0002g0164 a0003c0003t0002g0168 a0003c0003t0002g0170 a0003c0003t0002g0172 a0003c0003t0002g0178 a0003c0003t0002g0182 a0003c0003t0002g0186 a0003c0003t0002g0200 a0003c0003t0002g0232 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0257 a0003c0003t0002g0259 a0003c0003t0002g0265 a0003c0003t0002g0266 a0003c0003t0002g0269 a0003c0003t0002g0270 a0003c0003t0002g0271 a0003c0003t0002g0273 a0003c0003t0002g0274 a0003c0003t0002g0276 a0003c0003t0002g0277 a0003c0003t0002g0279 a0003c0003t0002g0301 a0003c0003t0002g0396 a0003c0003t0013g0111 a0003c0003t0013g0126 a0003c0003t0013g0233 a0003c0003t0036g0183 a0003c0003t0039g0157 a0005c0005t0007g0275 a0005c0005t0007g0287 a0005c0005t0033g0288 a0005c0005t0034g0154 a0013c0018t0001g0174	108	452	0.2389	-24	c.-20 others(41): Show c.-20+7191_-20+7214delCACACACACACACACACACACACA		LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	1/3						chr19	TogoVar
LOC122539214_chr19_52645447_52695496	52683258	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02630.hp1 others(6): Show HG02109.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG03516.hp1 NA19030.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0010	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0007c0006 a0010c0012	a0001c0001t0006 a0003c0003t0002 a0004c0004t0005 others(2): Show a0001c0001t0006 a0003c0003t0002 a0004c0004t0005 a0007c0006t0012 a0010c0012t0002	a0001c0001t0006g0267 a0003c0003t0002g0032 a0004c0004t0005g0029 others(6): Show a0001c0001t0006g0267 a0003c0003t0002g0032 a0004c0004t0005g0029 a0007c0006t0012g0039 a0007c0006t0012g0053 a0007c0006t0012g0278 a0007c0006t0012g0410 a0010c0012t0002g0137 a0010c0012t0002g0138	9	452	0.0199	-24	c.-20 others(41): Show c.-20+7161_-20+7184delTACACACACACACACACACACACA		LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	1/3						chr19	TogoVar
LOC128031832_chr1_31914563_31924628	31922586	GTTTCTTT others(17): Show GTTTCTTTCTTTCTTTCTTTCTTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02886.hp1 HG04199.hp1 HG01934.hp1 HG02886.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	3	402	0.0075	-24	c.-29 others(35): Show c.-2982_-2959delGAAAGAAAGAAAGAAAGAAAGAAA		LOC128031832	ENSG00000288678.2	transcript	ENST00000679970.1	protein_coding					2959		chr1	TogoVar
LOC128462377_chr16_89312046_89423292	89349861	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03704.hp2 HG03017.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0131 a0001c0001t0000g0257 a0001c0001t0000g0131 a0001c0001t0000g0257	2	366	0.0055	-24	c.10- others(41): Show c.10-32810_10-32787delGTGTGTGTGTGTGTGTGTGTGTGT		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128706665_chr20_10408708_10439222	10427029	GACACACA others(17): Show GACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0027 a0001c0001t0001g0072	3	408	0.0074	-24	c.-21 others(41): Show c.-21-6295_-21-6272delGTGTGTGTGTGTGTGTGTGTGTGT		LOC128706665	ENSG00000285723.2	transcript	ENST00000649912.2	protein_coding	1/2						chr20	TogoVar
LOC128706666_chr20_10408708_10439222	10427029	GACACACA others(17): Show GACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0027 a0001c0001t0001g0072	3	408	0.0074	-24	c.-27 others(43): Show c.-275-6295_-275-6272delGTGTGTGTGTGTGTGTGTGTGTGT		LOC128706666	ENSG00000285508.2	transcript	ENST00000713549.1	protein_coding	1/2						chr20	TogoVar
LOC400499_chr16_11367015_11532247	11397749	GGGAGGGA others(17): Show GGGAGGGATGGAGGGAGGGAGGGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(104): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18988.hp1 NA19005.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp2 NA19079.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(82): Show a0001 a0005 a0006 a0009 a0012 a0013 a0015 a0017 a0020 a0022 a0025 a0032 a0033 a0034 a0036 a0040 a0041 a0045 a0046 a0049 a0058 a0067 a0070 a0072 a0075 a0081 a0083 a0085 a0087 a0094 a0095 a0097 a0102 a0103 a0105 a0106 a0107 a0111 a0113 a0120 a0127 a0129 a0135 a0139 a0141 a0142 a0143 a0144 a0146 a0147 a0148 a0154 a0167 a0168 a0173 a0176 a0179 a0181 a0186 a0190 a0191 a0193 a0194 a0195 a0196 a0199 a0201 a0203 a0204 a0208 a0218 a0219 a0221 a0222 a0223 a0224 a0226 a0232 a0233 a0236 a0239 a0240 a0244 a0245 a0252	a0001c0001 a0001c0062 a0005c0129 others(91): Show a0001c0001 a0001c0062 a0005c0129 a0005c0145 a0005c0163 a0005c0271 a0006c0005 a0006c0221 a0009c0006 a0012c0116 a0012c0117 a0013c0064 a0013c0106 a0015c0012 a0017c0016 a0020c0017 a0022c0095 a0022c0156 a0025c0020 a0032c0185 a0033c0249 a0033c0250 a0034c0028 a0036c0026 a0040c0038 a0041c0039 a0045c0103 a0046c0098 a0049c0069 a0058c0120 a0067c0119 a0070c0104 a0072c0063 a0075c0078 a0081c0118 a0083c0170 a0085c0171 a0087c0173 a0094c0107 a0095c0109 a0097c0110 a0102c0133 a0103c0136 a0105c0089 a0106c0137 a0107c0090 a0111c0139 a0113c0135 a0120c0152 a0127c0149 a0129c0154 a0135c0157 a0139c0141 a0141c0087 a0142c0125 a0143c0097 a0144c0164 a0146c0099 a0147c0100 a0148c0101 a0154c0269 a0167c0207 a0168c0208 a0173c0224 a0176c0213 a0179c0215 a0181c0217 a0186c0197 a0190c0199 a0191c0201 a0193c0203 a0194c0202 a0195c0206 a0196c0226 a0199c0176 a0201c0228 a0203c0180 a0204c0188 a0208c0187 a0218c0240 a0219c0241 a0221c0246 a0222c0257 a0223c0256 a0224c0258 a0226c0251 a0232c0244 a0233c0243 a0236c0267 a0239c0268 a0240c0261 a0244c0053 a0245c0052 a0252c0045	a0001c0001t0003 a0001c0062t0004 a0005c0129t0003 others(93): Show a0001c0001t0003 a0001c0062t0004 a0005c0129t0003 a0005c0145t0003 a0005c0163t0011 a0005c0271t0003 a0006c0005t0003 a0006c0221t0003 a0009c0006t0003 a0009c0006t0004 a0009c0006t0005 a0012c0116t0005 a0012c0117t0001 a0013c0064t0003 a0013c0106t0004 a0015c0012t0002 a0017c0016t0004 a0020c0017t0003 a0022c0095t0003 a0022c0156t0003 a0025c0020t0003 a0032c0185t0002 a0033c0249t0002 a0033c0250t0004 a0034c0028t0002 a0036c0026t0002 a0040c0038t0002 a0041c0039t0013 a0045c0103t0003 a0046c0098t0003 a0049c0069t0003 a0058c0120t0002 a0067c0119t0003 a0070c0104t0001 a0072c0063t0002 a0075c0078t0002 a0081c0118t0003 a0083c0170t0003 a0085c0171t0003 a0087c0173t0003 a0094c0107t0004 a0095c0109t0003 a0097c0110t0003 a0102c0133t0003 a0103c0136t0004 a0105c0089t0003 a0106c0137t0003 a0107c0090t0009 a0111c0139t0003 a0113c0135t0002 a0120c0152t0003 a0127c0149t0003 a0129c0154t0003 a0135c0157t0002 a0139c0141t0004 a0141c0087t0004 a0142c0125t0003 a0143c0097t0004 a0144c0164t0004 a0146c0099t0001 a0147c0100t0008 a0148c0101t0002 a0154c0269t0010 a0167c0207t0003 a0168c0208t0003 a0173c0224t0003 a0176c0213t0003 a0179c0215t0003 a0181c0217t0003 a0186c0197t0004 a0190c0199t0003 a0191c0201t0003 a0193c0203t0003 a0194c0202t0005 a0195c0206t0004 a0196c0226t0002 a0199c0176t0003 a0201c0228t0003 a0203c0180t0005 a0204c0188t0005 a0208c0187t0002 a0218c0240t0003 a0219c0241t0003 a0221c0246t0002 a0222c0257t0003 a0223c0256t0003 a0224c0258t0003 a0226c0251t0005 a0232c0244t0004 a0233c0243t0004 a0236c0267t0003 a0239c0268t0003 a0240c0261t0003 a0244c0053t0001 a0245c0052t0003 a0252c0045t0004	a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0247 others(104): Show a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0247 a0001c0001t0003g0256 a0001c0062t0004g0255 a0005c0129t0003g0209 a0005c0145t0003g0204 a0005c0163t0011g0258 a0005c0271t0003g0267 a0006c0005t0003g0086 a0006c0005t0003g0103 a0006c0005t0003g0188 a0006c0221t0003g0179 a0009c0006t0003g0104 a0009c0006t0004g0109 a0009c0006t0005g0053 a0012c0116t0005g0134 a0012c0117t0001g0174 a0013c0064t0003g0172 a0013c0106t0004g0140 a0015c0012t0002g0023 a0015c0012t0002g0025 a0017c0016t0004g0019 a0017c0016t0004g0214 a0020c0017t0003g0092 a0020c0017t0003g0216 a0022c0095t0003g0169 a0022c0156t0003g0269 a0025c0020t0003g0088 a0025c0020t0003g0089 a0032c0185t0002g0168 a0033c0249t0002g0231 a0033c0250t0004g0102 a0034c0028t0002g0043 a0034c0028t0002g0099 a0036c0026t0002g0100 a0036c0026t0002g0101 a0040c0038t0002g0030 a0041c0039t0013g0309 a0045c0103t0003g0289 a0046c0098t0003g0122 a0049c0069t0003g0009 a0058c0120t0002g0293 a0067c0119t0003g0011 a0070c0104t0001g0110 a0072c0063t0002g0074 a0075c0078t0002g0039 a0081c0118t0003g0050 a0083c0170t0003g0161 a0085c0171t0003g0098 a0087c0173t0003g0016 a0094c0107t0004g0115 a0095c0109t0003g0243 a0097c0110t0003g0068 a0102c0133t0003g0121 a0103c0136t0004g0253 a0105c0089t0003g0248 a0106c0137t0003g0125 a0107c0090t0009g0072 a0111c0139t0003g0133 a0113c0135t0002g0047 a0120c0152t0003g0207 a0127c0149t0003g0114 a0129c0154t0003g0279 a0135c0157t0002g0091 a0139c0141t0004g0120 a0141c0087t0004g0182 a0142c0125t0003g0237 a0143c0097t0004g0048 a0144c0164t0004g0178 a0146c0099t0001g0242 a0147c0100t0008g0029 a0148c0101t0002g0142 a0154c0269t0010g0290 a0167c0207t0003g0238 a0168c0208t0003g0082 a0173c0224t0003g0147 a0176c0213t0003g0226 a0179c0215t0003g0083 a0181c0217t0003g0108 a0186c0197t0004g0059 a0190c0199t0003g0144 a0191c0201t0003g0185 a0193c0203t0003g0177 a0194c0202t0005g0143 a0195c0206t0004g0266 a0196c0226t0002g0131 a0199c0176t0003g0027 a0201c0228t0003g0259 a0203c0180t0005g0148 a0204c0188t0005g0196 a0208c0187t0002g0051 a0218c0240t0003g0187 a0219c0241t0003g0145 a0221c0246t0002g0119 a0222c0257t0003g0181 a0223c0256t0003g0184 a0224c0258t0003g0180 a0226c0251t0005g0176 a0232c0244t0004g0190 a0233c0243t0004g0130 a0236c0267t0003g0262 a0239c0268t0003g0271 a0240c0261t0003g0124 a0244c0053t0001g0075 a0245c0052t0003g0037 a0252c0045t0004g0164	107	310	0.3452	-24	c.792 others(41): Show c.7923+575_7923+598delATCCCTCCCTCCCTCCATCCCTCC		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	53/66						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11486257	AGATGGAT others(17): Show AGATGGATGGATGGAGGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG03540.hp1 others(1): Show HG01884.hp1 HG02258.hp2 HG03540.hp1 NA18522.hp1	a0156 a0174 a0177 others(1): Show a0156 a0174 a0177 a0178	a0156c0233 a0174c0265 a0177c0266 others(1): Show a0156c0233 a0174c0265 a0177c0266 a0178c0223	a0156c0233t0002 a0174c0265t0006 a0177c0266t0003 others(1): Show a0156c0233t0002 a0174c0265t0006 a0177c0266t0003 a0178c0223t0005	a0156c0233t0002g0306 a0174c0265t0006g0165 a0177c0266t0003g0278 others(1): Show a0156c0233t0002g0306 a0174c0265t0006g0165 a0177c0266t0003g0278 a0178c0223t0005g0275	4	310	0.0129	-24	c.201 others(42): Show c.2013+981_2013+1004delCATCCATCCCTCCATCCATCCATC		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	15/66						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11515462	AATACATA others(17): Show AATACATACATACGTACGTACATAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02258.hp1 others(5): Show HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02886.hp1 HG02976.hp2 HG03195.hp2 HG03453.hp1	a0039 a0040 a0041 others(5): Show a0039 a0040 a0041 a0059 a0133 a0149 a0150 a0151	a0039c0037 a0040c0038 a0041c0039 others(5): Show a0039c0037 a0040c0038 a0041c0039 a0059c0040 a0133c0041 a0149c0167 a0150c0043 a0151c0042	a0039c0037t0004 a0040c0038t0002 a0041c0039t0013 others(5): Show a0039c0037t0004 a0040c0038t0002 a0041c0039t0013 a0059c0040t0005 a0133c0041t0002 a0149c0167t0010 a0150c0043t0004 a0151c0042t0006	a0039c0037t0004g0042 a0040c0038t0002g0030 a0041c0039t0013g0309 others(5): Show a0039c0037t0004g0042 a0040c0038t0002g0030 a0041c0039t0013g0309 a0059c0040t0005g0038 a0133c0041t0002g0296 a0149c0167t0010g0041 a0150c0043t0004g0223 a0151c0042t0006g0034	8	310	0.0258	-24	c.654 others(39): Show c.654+443_654+466delGTATGTACGTACGTATGTATGTAT		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	6/66						chr16	TogoVar
LOC647264_chr13_63827361_63838053	63832832	AGAGCCAT others(17): Show AGAGCCATAGCCACAGCCATAGCTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02109.hp2 HG02451.hp1 others(8): Show HG01884.hp1 HG02109.hp2 HG02451.hp1 HG02622.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03540.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0004 a0003c0008t0005 a0003c0003t0004 a0003c0008t0005	a0003c0003t0004g0000 a0003c0008t0005g0000 a0003c0003t0004g0000 a0003c0008t0005g0000	11	442	0.0249	-24	c.138 others(31): Show c.138_161delCAGCTATGGCTGTGGCTATGGCTC	p.Ser others(11): Show p.Ser47_Ser54del	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	221/693	138/330	46/109			chr13	TogoVar
LOC647264_chr13_63827361_63838053	63832879	CAGAGCCA others(17): Show CAGAGCCATAGCCACAGCCATAGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0000 a0002c0010t0003g0000	1	442	0.0023	-24	c.91_ others(30): Show c.91_114delAGCTATGGCTGTGGCTATGGCTCT	p.Ser others(11): Show p.Ser31_Ser38del	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	174/693	91/330	31/109			chr13	TogoVar

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