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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATG14_chr14_55361391_55416830	55402926	A A	AAAATATA others(5): Show AAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0103 a0001c0004t0002g0103	1	366	0.0027	12	c.222 others(29): Show c.222-5493_222-5492insATATATATATTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18612.hp1 NA19070.hp2 HG02647.hp1 NA18612.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0001g0302 a0001c0001t0002g0134 a0001c0001t0001g0115 a0001c0001t0001g0302 a0001c0001t0002g0134	3	366	0.0082	12	c.222 others(29): Show c.222-5504_222-5493dupATATATATATAT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG16L1_chr2_233246673_233300669	233289377	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp1 HG01884.hp2 others(5): Show HG00735.hp1 HG01256.hp1 HG01884.hp2 HG01978.hp2 HG03209.hp1 HG03491.hp2 NA18963.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0029 a0002c0002t0002g0200 a0002c0002t0002g0218 others(5): Show a0002c0002t0002g0029 a0002c0002t0002g0200 a0002c0002t0002g0218 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0231 a0002c0002t0002g0236 a0002c0002t0005g0029	8	354	0.0226	12	c.120 others(29): Show c.1204-456_1204-445dupTGTGTGTGTGTG	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289408	T T	TGTGAGAG others(5): Show TGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03540.hp1 HG01109.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0120 a0001c0001t0003g0121	2	354	0.0057	12	c.120 others(29): Show c.1204-445_1204-444insTGAGAGAGAGAG	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289408	T T	TGTGTGAG others(5): Show TGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 NA18906.hp1 others(1): Show HG02647.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0122 others(1): Show a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0122 a0001c0001t0003g0150	4	354	0.0113	12	c.120 others(29): Show c.1204-445_1204-444insTGTGAGAGAGAG	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233291366	C C	CATCCCAT others(5): Show CATCCCATAATTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0246	1	354	0.0028	12	c.143 others(29): Show c.1431-761_1431-750dupATCCCATAATTT	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG2A_chr11_64889546_64922209	64920943	C C	CTATATAT others(5): Show CTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01934.hp1 others(39): Show HG00438.hp2 HG00558.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp2 HG02738.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG04228.hp2 NA18522.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19057.hp1 NA19060.hp1 NA19080.hp1 NA19080.hp2 NA20905.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0013	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0041 a0004c0005 a0006c0010 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0001c0041t0001 a0004c0005t0001 a0006c0010t0001 a0013c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0002g0029 a0001c0002t0001g0008 a0001c0002t0001g0058 a0001c0002t0001g0150 a0001c0006t0001g0012 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0041t0001g0210 a0004c0005t0001g0039 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0005t0001g0178 a0004c0005t0001g0179 a0004c0005t0001g0180 a0006c0010t0001g0046 a0006c0010t0001g0170 a0006c0010t0001g0171 a0013c0018t0001g0028	42	372	0.1129	12	c.-38 others(23): Show c.-3820_-3809dupTATATATATATA	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding		3735		chr11	TogoVar
ATG2B_chr14_96274195_96368341	96279404	C C	CTCATTCA others(5): Show CTCATTCATTCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp2 NA18950.hp1 NA19005.hp2 others(1): Show HG03688.hp2 NA18950.hp1 NA19005.hp2 NA19072.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0041 a0002c0001 a0004c0041	a0002c0001t0017 a0004c0041t0063 a0002c0001t0017 a0004c0041t0063	a0002c0001t0017g0138 a0002c0001t0017g0140 a0002c0001t0017g0194 others(1): Show a0002c0001t0017g0138 a0002c0001t0017g0140 a0002c0001t0017g0194 a0004c0041t0063g0340	4	356	0.0112	12	c.63 others(23): Show c.6339_*6350dupATGAATGAATGA	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	42/42	6350		chr14	TogoVar
ATG2B_chr14_96274195_96368341	96295727	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG02040.hp1 others(7): Show HG00621.hp2 HG00642.hp2 HG02040.hp1 HG02523.hp2 HG02717.hp1 HG02809.hp2 HG03130.hp2 HG03486.hp1 HG03927.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0025	a0001c0002 a0001c0013 a0002c0001 others(2): Show a0001c0002 a0001c0013 a0002c0001 a0004c0006 a0025c0027	a0001c0002t0001 a0001c0013t0005 a0001c0013t0022 others(4): Show a0001c0002t0001 a0001c0013t0005 a0001c0013t0022 a0002c0001t0002 a0002c0001t0004 a0004c0006t0013 a0025c0027t0008	a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0013t0005g0091 others(7): Show a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0013t0005g0091 a0001c0013t0022g0085 a0001c0013t0022g0090 a0002c0001t0002g0149 a0002c0001t0004g0190 a0004c0006t0013g0332 a0004c0006t0013g0338 a0025c0027t0008g0079	10	356	0.0281	12	c.514 others(29): Show c.5140-179_5140-168dupTGTGTGTGTGTG	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	34/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308270	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01071.hp2 others(24): Show HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01257.hp1 HG01928.hp2 HG01981.hp2 HG02083.hp2 HG02148.hp1 HG02293.hp1 HG03669.hp1 NA18747.hp2 NA18941.hp2 NA18952.hp1 NA18968.hp2 NA18979.hp2 NA18980.hp1 NA18987.hp1 NA18991.hp2 NA19056.hp1 NA19057.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp2	a0002 a0007 a0023 a0002 a0007 a0023	a0002c0001 a0007c0009 a0023c0036 a0002c0001 a0007c0009 a0023c0036	a0002c0001t0002 a0002c0001t0003 a0002c0001t0047 others(2): Show a0002c0001t0002 a0002c0001t0003 a0002c0001t0047 a0007c0009t0002 a0023c0036t0002	a0002c0001t0002g0006 a0002c0001t0002g0111 a0002c0001t0002g0120 others(23): Show a0002c0001t0002g0006 a0002c0001t0002g0111 a0002c0001t0002g0120 a0002c0001t0002g0124 a0002c0001t0002g0126 a0002c0001t0002g0134 a0002c0001t0002g0135 a0002c0001t0002g0136 a0002c0001t0002g0139 a0002c0001t0002g0141 a0002c0001t0002g0143 a0002c0001t0002g0147 a0002c0001t0002g0148 a0002c0001t0002g0151 a0002c0001t0002g0152 a0002c0001t0002g0153 a0002c0001t0002g0155 a0002c0001t0002g0181 a0002c0001t0002g0191 a0002c0001t0003g0123 a0002c0001t0047g0188 a0007c0009t0002g0119 a0007c0009t0002g0125 a0007c0009t0002g0128 a0007c0009t0002g0129 a0023c0036t0002g0130	27	356	0.0758	12	c.430 others(31): Show c.4303+1182_4303+1183insCATATATATATA	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG3_chr3_112527510_112566962	112544658	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01070.hp1 others(12): Show HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp1 HG02622.hp2 HG03490.hp1 HG03492.hp2 NA18522.hp1 NA18951.hp1 NA19000.hp2 NA19006.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 others(11): Show a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0001g0112 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0191	15	376	0.0399	12	c.344 others(27): Show c.344-564_344-553dupTTTTTTTTTTTT	ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding	5/11			chr3	TogoVar
ATG3_chr3_112527510_112566962	112552069	T T	TCTTTAGA others(5): Show TCTTTAGATATTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01071.hp1 others(33): Show HG00280.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01256.hp1 HG01952.hp2 HG02004.hp2 HG02165.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG03130.hp2 HG03225.hp1 HG03579.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04204.hp1 NA18522.hp1 NA18945.hp1 NA18956.hp2 NA18987.hp2 NA19000.hp2 NA19001.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19058.hp1 NA19064.hp1 NA19066.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0028 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066	36	376	0.0957	12	c.164 others(29): Show c.164+1210_164+1211insTAATATCTAAAG	ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding	3/11			chr3	TogoVar
ATG4A_chrX_108086778_108159671	108141064	A A	ATACATAT others(5): Show ATACATATATACG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG06807.hp1 NA18984.hp1 others(3): Show HG03471.hp1 HG06807.hp1 NA18984.hp1 NA19007.hp1 NA19010.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0173 a0001c0001t0002g0176 others(2): Show a0001c0001t0002g0017 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0186	6	249	0.0241	12	c.814 others(29): Show c.814+2875_814+2876insCATATATACGTA	ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG4A_chrX_108086778_108159671	108141071	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19060.hp1 HG02622.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0166 a0001c0001t0001g0069 a0001c0001t0001g0166	2	249	0.0080	12	c.814 others(29): Show c.814+2907_814+2918dupATATATATATAT	ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG4B_chr2_241632693_241678857	241635588	T T	TGATAACC others(5): Show TGATAACCCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	410	0.0024	12	c.-21 others(23): Show c.-2127_-2126insGATAACCCTGTC	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding		2104		chr2	TogoVar
ATG4B_chr2_241632693_241678857	241643663	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01891.hp1 HG04199.hp1 others(5): Show HG00423.hp1 HG01891.hp1 HG04199.hp1 NA19006.hp1 NA19065.hp2 NA19075.hp2 NA20805.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0006c0011t0007	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0323 others(5): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0349 a0001c0001t0002g0340 a0001c0001t0006g0341 a0006c0011t0007g0320	8	410	0.0195	12	c.10+ others(27): Show c.10+5946_10+5957dupGTGTGTGTGTGT	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG4B_chr2_241632693_241678857	241643692	T T	TCCCCCCC others(5): Show TCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0206 a0003c0004t0010g0206	1	410	0.0024	12	c.10+ others(27): Show c.10+5968_10+5969insCCCCCCCCCCCC	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12			chr2	TogoVar
ATG4D_chr19_10538904_10558418	10548003	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02738.hp1 HG03491.hp2 others(1): Show HG00621.hp2 HG02738.hp1 HG03491.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0044 a0001c0001t0001g0147 a0001c0001t0001g0148	4	406	0.0099	12	c.835 others(27): Show c.835+784_835+795dupTTTTTTTTTTTT	ATG4D	ENSG00000130734.10	transcript	ENST00000309469.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATG5_chr6_106179476_106330760	106294845	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01123.hp1 others(31): Show HG00621.hp2 HG00639.hp1 HG01123.hp1 HG01175.hp1 HG01346.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02055.hp2 HG02135.hp2 HG02698.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03209.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03942.hp2 HG06807.hp2 NA18942.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19077.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0002 a0001c0004t0002	a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0101 others(31): Show a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0331 a0001c0001t0009g0330 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0004t0002g0016	34	358	0.0950	12	c.237 others(29): Show c.237-1751_237-1740dupTTTTTTTTTTTT	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	3/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106323538	C C	CAAGTTAT others(5): Show CAAGTTATATTCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	358	0.0028	12	c.-59 others(29): Show c.-59+1976_-59+1987dupAGAATATAACTT	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	1/7			chr6	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCAC others(5): Show TCTCTCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02071.hp2 HG00280.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0112 a0001c0001t0001g0034 a0001c0001t0001g0112	2	292	0.0069	12	c.-47 others(23): Show c.-4790_-4789insCTCTCACACACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding		4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCTC others(5): Show TCTCTCTCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01081.hp1 others(19): Show HG00099.hp1 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01934.hp1 HG01981.hp1 HG02015.hp1 HG02165.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG03041.hp2 HG03579.hp2 HG03704.hp2 NA18522.hp1 NA18906.hp1 NA18973.hp1 NA19002.hp2 NA19010.hp2 NA19068.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0046 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0014 a0004c0007t0001 a0006c0009t0005	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0050 others(19): Show a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0002g0014 a0001c0001t0005g0111 a0001c0001t0011g0037 a0001c0001t0011g0039 a0001c0001t0046g0118 a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0004g0083 a0001c0002t0011g0051 a0001c0002t0014g0073 a0001c0002t0014g0074 a0004c0007t0001g0117 a0006c0009t0005g0070	22	292	0.0753	12	c.-47 others(23): Show c.-4790_-4789insCTCTCTCACACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding		4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCTC others(5): Show TCTCTCTCTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01081.hp2 others(28): Show HG00733.hp1 HG00738.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01361.hp2 HG02027.hp2 HG02074.hp2 HG02083.hp1 HG02257.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA18747.hp2 NA18939.hp2 NA18949.hp2 NA18950.hp1 NA18974.hp1 NA18982.hp2 NA18984.hp1 NA18994.hp2 NA19002.hp1 NA19058.hp1 NA19062.hp1 NA19068.hp2 NA19077.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0036 a0001c0002t0001 a0001c0002t0013 a0001c0002t0017 a0001c0002t0028 a0001c0006t0002	a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0041 others(28): Show a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0001t0002g0125 a0001c0001t0003g0025 a0001c0001t0003g0042 a0001c0001t0003g0068 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0108 a0001c0001t0003g0135 a0001c0001t0036g0123 a0001c0002t0001g0045 a0001c0002t0001g0065 a0001c0002t0013g0133 a0001c0002t0017g0119 a0001c0002t0028g0048 a0001c0006t0002g0094	31	292	0.1062	12	c.-47 others(23): Show c.-4790_-4789insCTCTCTCTCACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding		4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCTC others(5): Show TCTCTCTCTCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 NA18984.hp2 HG02683.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0050 a0001c0002t0029 a0001c0001t0050 a0001c0002t0029	a0001c0001t0050g0056 a0001c0002t0029g0043 a0001c0001t0050g0056 a0001c0002t0029g0043	2	292	0.0069	12	c.-47 others(23): Show c.-4790_-4789insCTCTCTCTCTCA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding		4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11271223	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG01358.hp1 others(26): Show HG01099.hp2 HG01175.hp2 HG01358.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG02027.hp1 HG02109.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03942.hp1 NA18947.hp1 NA18949.hp1 NA19010.hp1 NA19043.hp1 NA19058.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0013 a0002c0003t0008 a0002c0004t0025 a0007c0010t0001	a0001c0001t0001g0061 a0001c0001t0001g0199 a0001c0001t0001g0208 others(26): Show a0001c0001t0001g0061 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0002g0150 a0001c0001t0002g0187 a0001c0001t0002g0214 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0004g0243 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0260 a0001c0001t0006g0145 a0001c0001t0006g0152 a0001c0002t0001g0229 a0001c0002t0001g0247 a0001c0002t0013g0151 a0002c0003t0008g0279 a0002c0003t0008g0280 a0002c0004t0025g0292 a0007c0010t0001g0244	29	292	0.0993	12	c.-15 others(23): Show c.-1573_-1572insTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding		1173		chr3	TogoVar
ATG7_chr3_11267397_11562665	11291803	G G	GGACCTTG others(5): Show GGACCTTGTGAGA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0048 a0001c0002t0028g0048	1	292	0.0034	12	c.-10 others(29): Show c.-10-6882_-10-6871dupGACCTTGTGAGA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11366971	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19077.hp2 HG03139.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0028 a0001c0001t0019 a0001c0002t0028	a0001c0001t0019g0130 a0001c0002t0028g0048 a0001c0001t0019g0130 a0001c0002t0028g0048	2	292	0.0069	12	c.187 others(31): Show c.1875+2269_1875+2280dupGTGTGTGTGTGT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03579.hp1 others(2): Show HG02055.hp1 HG02145.hp1 HG03579.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0002t0014 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0014 a0001c0002t0040	a0001c0001t0004g0266 a0001c0001t0004g0273 a0001c0001t0006g0182 others(2): Show a0001c0001t0004g0266 a0001c0001t0004g0273 a0001c0001t0006g0182 a0001c0002t0014g0181 a0001c0002t0040g0141	5	292	0.0171	12	c.187 others(31): Show c.1876-1938_1876-1927dupTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11411619	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0054 a0001c0001t0043g0054	1	292	0.0034	12	c.195 others(33): Show c.1957-15167_1957-15156dupAAAAAAAAAAAA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11422740	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0152	1	292	0.0034	12	c.195 others(31): Show c.1957-4046_1957-4035dupTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11440674	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	292	0.0034	12	c.207 others(33): Show c.2079+13763_2079+13774dupTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11469988	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 NA19030.hp2 HG01891.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0046 a0001c0001t0002 a0001c0001t0005 a0001c0001t0046	a0001c0001t0002g0206 a0001c0001t0005g0149 a0001c0001t0046g0118 a0001c0001t0002g0206 a0001c0001t0005g0149 a0001c0001t0046g0118	3	292	0.0103	12	c.207 others(33): Show c.2079+43072_2079+43083dupAAAAAAAAAAAA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11475868	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01074.hp2 others(5): Show HG00423.hp2 HG00609.hp1 HG01074.hp2 HG01934.hp1 HG02055.hp2 HG02896.hp1 HG02897.hp1 NA19012.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0044 a0001c0002t0012 others(1): Show a0001c0001t0001 a0001c0001t0044 a0001c0002t0012 a0004c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0088 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0132 a0001c0001t0001g0234 a0001c0001t0044g0262 a0001c0002t0012g0248 a0004c0007t0001g0117	8	292	0.0274	12	c.207 others(33): Show c.2079+48971_2079+48982dupACACACACACAC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11478989	A A	AACACACA others(5): Show AACACACACAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01074.hp2 others(13): Show HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02165.hp1 HG02451.hp2 HG04184.hp2 NA18981.hp2 NA18984.hp2 NA18998.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0050 a0001c0002t0004 a0001c0002t0017	a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0055 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0002g0203 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0095 a0001c0001t0005g0149 a0001c0001t0050g0056 a0001c0002t0004g0083 a0001c0002t0017g0119	16	292	0.0548	12	c.207 others(33): Show c.2079+52072_2079+52073insAACACACACACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03041.hp2 HG03471.hp1 others(8): Show HG02080.hp2 HG03041.hp2 HG03471.hp1 HG03540.hp1 HG03688.hp1 HG03831.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0078 others(8): Show a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0110 a0001c0001t0002g0005 a0001c0001t0002g0204 a0001c0001t0003g0106 a0001c0001t0004g0184 a0001c0001t0005g0111 a0001c0002t0001g0175 a0001c0002t0001g0193	11	292	0.0377	12	c.208 others(33): Show c.2080-57430_2080-57419dupATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(5): Show CTATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0133 a0001c0002t0013g0133	1	292	0.0034	12	c.208 others(33): Show c.2080-57443_2080-57442insGTATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11515297	C C	CGTGTGTG others(5): Show CGTGTGTGTGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(241): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0003c0005 a0004c0007 a0005c0008 a0006c0009 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0033 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0024 a0001c0002t0026 a0001c0002t0029 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0002t0040 a0001c0002t0042 a0001c0006t0002 a0002c0003t0008 a0002c0003t0016 a0002c0003t0022 a0002c0003t0023 a0002c0003t0032 a0002c0004t0021 a0002c0004t0025 a0003c0005t0001 a0004c0007t0001 a0005c0008t0004 a0006c0009t0005 a0007c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(241): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0284 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0100 a0001c0001t0002g0125 a0001c0001t0002g0142 a0001c0001t0002g0150 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0283 a0001c0001t0003g0042 a0001c0001t0004g0148 a0001c0001t0004g0184 a0001c0001t0004g0186 a0001c0001t0004g0205 a0001c0001t0004g0221 a0001c0001t0004g0243 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0273 a0001c0001t0005g0071 a0001c0001t0005g0111 a0001c0001t0005g0149 a0001c0001t0005g0245 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0260 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0152 a0001c0001t0006g0182 a0001c0001t0006g0264 a0001c0001t0006g0269 a0001c0001t0006g0272 a0001c0001t0011g0037 a0001c0001t0011g0039 a0001c0001t0011g0049 a0001c0001t0011g0122 a0001c0001t0012g0052 a0001c0001t0012g0190 a0001c0001t0018g0121 a0001c0001t0018g0191 a0001c0001t0019g0130 a0001c0001t0019g0194 a0001c0001t0030g0136 a0001c0001t0033g0063 a0001c0001t0043g0054 a0001c0001t0045g0274 a0001c0001t0048g0010 a0001c0001t0049g0001 a0001c0001t0051g0198 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0045 a0001c0002t0001g0065 a0001c0002t0001g0086 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0247 a0001c0002t0002g0225 a0001c0002t0004g0083 a0001c0002t0004g0188 a0001c0002t0007g0098 a0001c0002t0007g0172 a0001c0002t0007g0173 a0001c0002t0007g0174 a0001c0002t0007g0176 a0001c0002t0007g0177 a0001c0002t0007g0178 a0001c0002t0011g0051 a0001c0002t0012g0248 a0001c0002t0013g0133 a0001c0002t0013g0151 a0001c0002t0013g0252 a0001c0002t0014g0073 a0001c0002t0014g0074 a0001c0002t0014g0181 a0001c0002t0024g0263 a0001c0002t0026g0281 a0001c0002t0029g0043 a0001c0002t0034g0013 a0001c0002t0035g0271 a0001c0002t0037g0171 a0001c0002t0040g0141 a0001c0002t0042g0170 a0001c0006t0002g0094 a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0008g0277 a0002c0003t0008g0278 a0002c0003t0008g0279 a0002c0003t0008g0280 a0002c0003t0016g0286 a0002c0003t0016g0287 a0002c0003t0022g0289 a0002c0003t0023g0285 a0002c0003t0032g0124 a0002c0004t0021g0288 a0002c0004t0025g0292 a0003c0005t0001g0026 a0003c0005t0001g0103 a0004c0007t0001g0117 a0005c0008t0004g0270 a0006c0009t0005g0070 a0007c0010t0001g0244	244	292	0.8356	12	c.208 others(33): Show c.2080-39511_2080-39500dupGTGTGTGTATGT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11533586	C C	CTCTTCTC others(5): Show CTCTTCTCTGAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp2 NA19060.hp1 HG02027.hp2 HG02080.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0095 a0001c0001t0003g0106 a0001c0001t0003g0008 a0001c0001t0003g0095 a0001c0001t0003g0106	3	292	0.0103	12	c.208 others(33): Show c.2080-21211_2080-21200dupCTTCTCTGAAAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG9B_chr7_151010151_151029494	151016603	C C	CCTTGGGG others(5): Show CCTTGGGGTGCAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0029 a0029	a0029c0035 a0029c0035	a0029c0035t0001 a0029c0035t0001	a0029c0035t0001g0107 a0029c0035t0001g0107	1	466	0.0022	12	c.242 others(27): Show c.2424-77_2424-76insCTGCACCCCAAG	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	10/13			chr7	TogoVar
ATL1_chr14_50555145_50638045	50574935	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	2	320	0.0063	12	c.35- others(29): Show c.35-12895_35-12894insATATATATATAT	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATL1_chr14_50555145_50638045	50574937	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	320	0.0031	12	c.35- others(29): Show c.35-12866_35-12855dupATATATATATAT	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATL1_chr14_50555145_50638045	50574937	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0207 a0001c0004t0001g0024 a0001c0004t0001g0030 a0001c0001t0001g0207 a0001c0004t0001g0024 a0001c0004t0001g0030	3	320	0.0094	12	c.35- others(29): Show c.35-12893_35-12892insGTATATATATAT	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATL2_chr2_38288954_38382273	38291195	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0024 a0001c0003t0008g0024	1	236	0.0042	12	c.47 others(23): Show c.4798_*4799insTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding		2758		chr2	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02280.hp1 HG02559.hp2 others(2): Show HG00323.hp1 HG02280.hp1 HG02559.hp2 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0077 a0001c0001t0004g0091 a0001c0003t0001g0151 others(2): Show a0001c0001t0004g0077 a0001c0001t0004g0091 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153	5	236	0.0212	12	c.364 others(31): Show c.364-10416_364-10405dupTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19003.hp2 HG02258.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0006 a0002c0006t0004 a0001c0001t0006 a0002c0006t0004	a0001c0001t0006g0134 a0002c0006t0004g0168 a0001c0001t0006g0134 a0002c0006t0004g0168	2	236	0.0085	12	c.363 others(29): Show c.363+5770_363+5781dupTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38354184	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18955.hp1 NA18995.hp2 HG02055.hp2 NA18955.hp1 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0003c0004t0003 a0001c0001t0006 a0003c0004t0003	a0001c0001t0006g0138 a0001c0001t0006g0143 a0003c0004t0003g0040 a0001c0001t0006g0138 a0001c0001t0006g0143 a0003c0004t0003g0040	3	236	0.0127	12	c.119 others(31): Show c.119-10673_119-10672insTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	1/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38360259	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02132.hp2 NA18906.hp1 others(11): Show HG00423.hp1 HG02132.hp2 NA18906.hp1 NA18943.hp2 NA18950.hp1 NA18955.hp1 NA18995.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19078.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0006 a0001c0001t0012 a0001c0001t0037 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0037 a0003c0005t0028	a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 others(11): Show a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0146 a0001c0001t0012g0133 a0001c0001t0012g0136 a0001c0001t0012g0145 a0001c0001t0037g0132 a0003c0005t0028g0006	14	236	0.0593	12	c.119 others(31): Show c.119-16759_119-16748dupAAAAAAAAAAAA	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	1/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38365170	C C	CACACACA others(5): Show CACACACACAAAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA20129.hp1 NA19084.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0017 a0001c0001t0006 a0001c0003t0017	a0001c0001t0006g0140 a0001c0003t0017g0026 a0001c0001t0006g0140 a0001c0003t0017g0026	2	236	0.0085	12	c.118 others(31): Show c.118+11972_118+11973insATTTGTGTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	1/12			chr2	TogoVar
ATMIN_chr16_81030842_81052350	81046661	G G	GACACACA others(5): Show GACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 NA18960.hp2 HG00558.hp1 NA18960.hp2	a0005 a0009 a0005 a0009	a0005c0008 a0009c0023 a0005c0008 a0009c0023	a0005c0008t0045 a0009c0023t0044 a0005c0008t0045 a0009c0023t0044	a0005c0008t0045g0003 a0009c0023t0044g0054 a0005c0008t0045g0003 a0009c0023t0044g0054	2	392	0.0051	12	c.17 others(23): Show c.1710_*1721dupACACACACACAC	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	4/4	1722	INFO_REALIGN_3_PRIME	chr16	TogoVar
ATM_chr11_108218067_108374102	108273331	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02647.hp2 others(6): Show HG02145.hp1 HG02559.hp2 HG02647.hp2 HG02723.hp2 HG02976.hp1 HG03098.hp1 HG03516.hp1 NA18522.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0139 others(6): Show a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0003g0143 a0002c0002t0003g0145 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0149	9	304	0.0296	12	c.328 others(29): Show c.3284+495_3284+506dupTTTTTTTTTTTT	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	22/62		INFO_REALIGN_3_PRIME	chr11	TogoVar

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