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
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp1 NA19043.hp2 HG01109.hp1 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0249 a0001c0003t0002g0270 a0001c0003t0002g0275 a0001c0003t0002g0249 a0001c0003t0002g0270 a0001c0003t0002g0275	3	316	0.0095	15	c.422 others(30): Show c.422+943_422+944insAAATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0293 a0001c0005t0004g0293	1	316	0.0032	15	c.422 others(30): Show c.422+943_422+944insAAAAAAAAATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD14A_chr3_51970064_51986196	51981894	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 NA18906.hp1 HG03209.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	2	344	0.0058	15	c.87 others(24): Show c.876_*877insAAAAAAAAAAAAAAA	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding		699		chr3	TogoVar
ABHD17A_chr19_1871810_1890496	1872755	G G	GGCTACTT others(8): Show GGCTACTTCTCTCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	416	0.0024	15	c.44 others(26): Show c.4444_*4445insACCGAGAGAAGTAGC	ABHD17A	ENSG00000129968.17	transcript	ENST00000292577.12	protein_coding		4054		chr19	TogoVar
ABHD17C_chr15_80690310_80760621	80695065	T T	TGGCGGCG others(8): Show TGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01952.hp2 others(2): Show HG01257.hp1 HG01258.hp1 HG01952.hp2 HG03239.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0008g0175 others(2): Show a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0008g0175 a0001c0001t0008g0217 a0001c0001t0008g0222	5	360	0.0139	15	c.-36 others(24): Show c.-365_-364insGGCGGCGGCGGCGGC	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding		244		chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	360	0.0028	15	c.590 others(32): Show c.590+9314_590+9315insGTGTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2			chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80726501	G G	GTTTGTTT others(8): Show GTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02109.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0304 a0001c0001t0001g0306	2	360	0.0056	15	c.591 others(34): Show c.591-23009_591-23008insGTTTTTTTTTTTTTT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80726501	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02451.hp1 HG01496.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0301 a0001c0001t0001g0307	2	360	0.0056	15	c.591 others(34): Show c.591-22998_591-22984dupTTTTTTTTTTTTTTT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD18_chr4_127960406_128044953	128033524	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0291 a0002c0002t0021g0291	1	344	0.0029	15	c.134 others(34): Show c.1344-2232_1344-2218dupTTTTTTTTTTTTTTT	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ABHD3_chr18_21645901_21709774	21700827	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG03225.hp1 HG02055.hp1 HG02559.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0116	3	304	0.0099	15	c.509 others(32): Show c.509+1474_509+1488dupTTTTTTTTTTTTTTT	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	3/8			chr18	TogoVar
ABI2_chr2_203323394_203437169	203392275	T T	TCACCACC others(8): Show TCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01074.hp1 others(45): Show HG00673.hp1 HG00733.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG02027.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03490.hp1 HG03831.hp2 HG03942.hp1 NA18939.hp2 NA18946.hp2 NA18954.hp1 NA18961.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19057.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19091.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0026	a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 others(45): Show a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0003g0188 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0004g0217 a0001c0001t0005g0106 a0001c0001t0005g0161 a0001c0001t0014g0267 a0001c0001t0026g0313	48	320	0.1500	15	c.578 others(32): Show c.578+1159_578+1173dupCCACCACCACCACCA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203408833	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0319 a0001c0001t0022g0319	1	320	0.0031	15	c.119 others(34): Show c.1193-2450_1193-2436dupTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100869330	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(12): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00597.hp1 HG01081.hp1 HG01981.hp2 HG02735.hp1 HG03942.hp1 HG03942.hp2 NA18948.hp2 NA18952.hp1 NA18986.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0002c0002 a0004c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0004t0002 a0001c0005t0004 a0001c0009t0001 a0002c0002t0005 a0004c0007t0001	a0001c0001t0002g0038 a0001c0001t0002g0083 a0001c0001t0006g0227 others(12): Show a0001c0001t0002g0038 a0001c0001t0002g0083 a0001c0001t0006g0227 a0001c0001t0008g0194 a0001c0004t0002g0021 a0001c0004t0002g0042 a0001c0005t0004g0175 a0001c0005t0004g0193 a0001c0005t0004g0199 a0001c0005t0004g0206 a0001c0009t0001g0076 a0002c0002t0005g0074 a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0113	15	238	0.0630	15	c.911 others(32): Show c.911-2389_911-2375dupAAAAAAAAAAAAAAA	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	9/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0079 a0002c0002t0003g0079	1	238	0.0042	15	c.461 others(32): Show c.461+3809_461+3823dupTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179176702	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02080.hp1 HG02602.hp2 others(7): Show HG01981.hp1 HG02080.hp1 HG02602.hp2 HG02738.hp1 NA18747.hp2 NA18940.hp2 NA18949.hp1 NA18949.hp2 NA18967.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0090 a0001c0001t0109	a0001c0001t0002g0211 a0001c0001t0002g0243 a0001c0001t0002g0248 others(7): Show a0001c0001t0002g0211 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0005g0328 a0001c0001t0008g0297 a0001c0001t0011g0321 a0001c0001t0011g0344 a0001c0001t0015g0127 a0001c0001t0090g0305 a0001c0001t0109g0326	10	350	0.0286	15	c.158 others(34): Show c.158-43329_158-43328insAAAAAAAAAAAAAAA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179178401	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01081.hp1 others(18): Show HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01167.hp2 HG01175.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp1 HG02132.hp1 HG02258.hp1 HG02602.hp2 HG03130.hp1 HG03486.hp1 HG03516.hp1 NA18940.hp2 NA18950.hp1 NA18963.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0015 a0001c0001 a0001c0002 a0007c0015	a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 others(10): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0001t0041 a0001c0001t0042 a0001c0001t0074 a0001c0001t0090 a0001c0001t0098 a0001c0002t0010 a0001c0002t0017 a0001c0002t0093 a0001c0002t0100 a0007c0015t0092	a0001c0001t0008g0283 a0001c0001t0008g0289 a0001c0001t0008g0297 others(18): Show a0001c0001t0008g0283 a0001c0001t0008g0289 a0001c0001t0008g0297 a0001c0001t0009g0279 a0001c0001t0009g0285 a0001c0001t0009g0300 a0001c0001t0009g0314 a0001c0001t0021g0310 a0001c0001t0021g0311 a0001c0001t0041g0250 a0001c0001t0041g0251 a0001c0001t0042g0249 a0001c0001t0074g0123 a0001c0001t0090g0305 a0001c0001t0098g0308 a0001c0002t0010g0254 a0001c0002t0010g0262 a0001c0002t0017g0272 a0001c0002t0093g0274 a0001c0002t0100g0270 a0007c0015t0092g0313	21	350	0.0600	15	c.158 others(34): Show c.158-45042_158-45028dupTTTTTTTTTTTTTTT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114448604	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 NA19043.hp1 HG03130.hp1 NA18522.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0045 a0002c0005t0092 a0002c0009t0090 a0002c0005t0045 a0002c0005t0092 a0002c0009t0090	a0002c0005t0045g0061 a0002c0005t0092g0156 a0002c0009t0090g0010 a0002c0005t0045g0061 a0002c0005t0092g0156 a0002c0009t0090g0010	3	256	0.0117	15	c.159 others(32): Show c.1595-599_1595-585dupTAATAATAATAATAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	14/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114476646	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01099.hp2 others(12): Show HG00323.hp1 HG00741.hp2 HG01099.hp2 HG01255.hp2 HG01358.hp2 HG02055.hp1 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02965.hp2 HG03491.hp1 HG03579.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0004c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0027 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0027 a0001c0001t0041 a0001c0001t0107 a0001c0002t0008 a0001c0002t0110 a0001c0003t0001 a0001c0003t0007 a0001c0003t0113 a0002c0005t0045 a0004c0008t0012	a0001c0001t0001g0244 a0001c0001t0007g0068 a0001c0001t0027g0129 others(12): Show a0001c0001t0001g0244 a0001c0001t0007g0068 a0001c0001t0027g0129 a0001c0001t0027g0158 a0001c0001t0041g0229 a0001c0001t0107g0171 a0001c0002t0008g0187 a0001c0002t0110g0157 a0001c0003t0001g0103 a0001c0003t0001g0168 a0001c0003t0007g0107 a0001c0003t0007g0216 a0001c0003t0113g0186 a0002c0005t0045g0061 a0004c0008t0012g0139	15	256	0.0586	15	c.104 others(34): Show c.1042-2705_1042-2691dupATTATTATTATTATT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	8/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114500731	A A	AGGAAGGG others(8): Show AGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00733.hp1 others(11): Show HG00280.hp1 HG00438.hp1 HG00733.hp1 HG00738.hp2 HG02109.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03710.hp1 NA18944.hp1 NA18969.hp1 NA19043.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0059 a0001c0001t0093 a0001c0001t0156 others(10): Show a0001c0001t0059 a0001c0001t0093 a0001c0001t0156 a0001c0001t0157 a0001c0002t0008 a0001c0002t0038 a0001c0002t0062 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0136 a0001c0003t0140 a0001c0003t0143	a0001c0001t0059g0116 a0001c0001t0093g0146 a0001c0001t0156g0110 others(11): Show a0001c0001t0059g0116 a0001c0001t0093g0146 a0001c0001t0156g0110 a0001c0001t0157g0115 a0001c0002t0008g0117 a0001c0002t0038g0120 a0001c0002t0062g0153 a0001c0003t0002g0166 a0001c0003t0002g0211 a0001c0003t0004g0226 a0001c0003t0009g0092 a0001c0003t0136g0045 a0001c0003t0140g0209 a0001c0003t0143g0182	14	256	0.0547	15	c.895 others(32): Show c.895-8868_895-8854dupCTTCCCTTCCCTTCC	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	6/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114500771	G G	GGGAAGGG others(8): Show GGGAAGGGAAGGGAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp2 HG02451.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0089 a0001c0002t0158 a0001c0001t0089 a0001c0002t0158	a0001c0001t0089g0118 a0001c0002t0158g0014 a0001c0001t0089g0118 a0001c0002t0158g0014	2	256	0.0078	15	c.895 others(32): Show c.895-8894_895-8893insTTTCCCTTCCCTTCC	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	6/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114580205	T T	TTATATAT others(8): Show TTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0004 a0001c0001t0023g0006 a0001c0001t0023g0004 a0001c0001t0023g0006	2	256	0.0078	15	c.380 others(32): Show c.380-4607_380-4606insTATATATAATATATA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114584135	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01433.hp1 HG02055.hp1 others(5): Show HG01358.hp2 HG01433.hp1 HG02055.hp1 HG03017.hp2 HG03491.hp2 HG04115.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0041 a0001c0001t0057 a0005c0011t0009	a0001c0001t0001g0086 a0001c0001t0001g0124 a0001c0001t0004g0136 others(5): Show a0001c0001t0001g0086 a0001c0001t0001g0124 a0001c0001t0004g0136 a0001c0001t0007g0068 a0001c0001t0041g0229 a0001c0001t0057g0085 a0005c0011t0009g0254 a0005c0011t0009g0255	8	256	0.0313	15	c.380 others(32): Show c.380-8551_380-8537dupCTTTTCTTTTCTTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114634129	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18995.hp2 NA19090.hp1 NA18979.hp2 NA18995.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0064 a0001c0002t0060 a0001c0003t0002 a0001c0001t0064 a0001c0002t0060 a0001c0003t0002	a0001c0001t0064g0051 a0001c0002t0060g0049 a0001c0003t0002g0041 a0001c0001t0064g0051 a0001c0002t0060g0049 a0001c0003t0002g0041	3	256	0.0117	15	c.244 others(34): Show c.244+23813_244+23827dupAAAAAAAAAAAAAAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114644280	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0118 a0001c0001t0089g0118	1	256	0.0039	15	c.244 others(34): Show c.244+13662_244+13676dupTTTTTTTTTTTTTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114644306	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0120 a0001c0002t0038g0120	1	256	0.0039	15	c.244 others(34): Show c.244+13650_244+13651insATATTTTTTTTTTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114644306	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0012 a0004c0023t0012	a0004c0023t0012g0134 a0004c0023t0012g0134	1	256	0.0039	15	c.244 others(34): Show c.244+13650_244+13651insATATATATATATTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7980941	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	322	0.0031	15	c.182 others(34): Show c.1824+2308_1824+2322dupAAAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8056112	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	322	0.0031	15	c.764 others(32): Show c.764-1881_764-1867dupTTTTTTTTTTTTTTT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	7/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149170228	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	258	0.0039	15	c.14- others(32): Show c.14-13224_14-13223insCTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23			chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225231	A A	ACCTCTAT others(8): Show ACCTCTATCTAGTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(72): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01346.hp1 HG01515.hp2 HG01884.hp2 HG01952.hp1 HG01975.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02559.hp2 HG02683.hp2 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03688.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp1 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18967.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0054 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0016g0015	75	258	0.2907	15	c.758 others(32): Show c.758-5418_758-5417insCCTCTATCTAGTTCC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23			chr5	TogoVar
ABR_chr17_998519_1184981	1022106	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0119 a0001c0003t0012g0119	1	337	0.0030	15	c.179 others(34): Show c.1792-8957_1792-8943dupTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1022120	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01175.hp1 others(20): Show HG00323.hp1 HG00544.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02293.hp1 HG02293.hp2 HG02738.hp2 HG03098.hp1 HG03710.hp1 HG03927.hp2 NA18945.hp2 NA18979.hp2 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19068.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0152 a0001c0001t0002g0223 a0001c0001t0004g0255 others(20): Show a0001c0001t0002g0152 a0001c0001t0002g0223 a0001c0001t0004g0255 a0001c0001t0004g0263 a0001c0001t0004g0316 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0006g0090 a0001c0001t0006g0096 a0001c0001t0007g0323 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0009g0045 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0310 a0001c0001t0013g0028 a0001c0001t0015g0275 a0001c0001t0019g0057 a0001c0001t0023g0035 a0001c0001t0030g0210 a0001c0002t0001g0205 a0001c0002t0002g0066	23	337	0.0683	15	c.179 others(34): Show c.1792-8957_1792-8956insGTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1022120	A A	AAAAAAAA others(8): Show AAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp2 HG02965.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0110 a0001c0002t0012g0244 a0001c0002t0001g0110 a0001c0002t0012g0244	2	337	0.0059	15	c.179 others(34): Show c.1792-8957_1792-8956insGTTTTTGTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34182497	T T	TGGGGGGG others(8): Show TGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG02004.hp2 others(2): Show HG00733.hp1 HG01123.hp2 HG02004.hp2 NA19002.hp2 NA19056.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0005c0011t0001 a0001c0001t0001 a0001c0001t0003 a0005c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0003g0180 a0005c0011t0001g0064	5	246	0.0203	15	c.124 others(34): Show c.1245-9191_1245-9190insCCCCCCCCCCCCCCC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	3/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34325950	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01192.hp2 others(9): Show HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01496.hp1 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG02922.hp2 HG03471.hp2 NA18997.hp1 NA19011.hp1 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0004t0001 a0003c0003t0008	a0001c0001t0001g0015 a0001c0001t0001g0059 a0001c0001t0001g0060 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0156 a0001c0001t0003g0167 a0001c0001t0017g0129 a0001c0004t0001g0135 a0003c0003t0008g0155	12	246	0.0488	15	c.883 others(34): Show c.883+30736_883+30750dupATTTTATTTTATTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107481928	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0003 a0014 a0003 a0014	a0003c0004 a0014c0023 a0003c0004 a0014c0023	a0003c0004t0002 a0014c0023t0006 a0003c0004t0002 a0014c0023t0006	a0003c0004t0002g0076 a0014c0023t0006g0099 a0003c0004t0002g0076 a0014c0023t0006g0099	2	186	0.0108	15	c.113 others(36): Show c.1136-38559_1136-38558insCTCTCTCTCTCTCTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16			chr12	TogoVar
ABTB3_chr12_107313434_107664642	107525324	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0040 a0003c0004t0001g0040	1	186	0.0054	15	c.128 others(34): Show c.1285+4700_1285+4714dupAAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107542311	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG01433.hp2 others(15): Show HG00280.hp2 HG00423.hp1 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01978.hp1 HG02015.hp2 HG02135.hp2 HG03017.hp2 HG03492.hp2 HG04204.hp2 NA18942.hp2 NA18954.hp2 NA18999.hp1 NA19002.hp1 NA19063.hp1 NA19087.hp1 NA20300.hp1	a0003 a0005 a0008 others(1): Show a0003 a0005 a0008 a0010	a0003c0004 a0003c0006 a0005c0007 others(3): Show a0003c0004 a0003c0006 a0005c0007 a0005c0016 a0008c0013 a0010c0017	a0003c0004t0003 a0003c0004t0004 a0003c0006t0002 others(8): Show a0003c0004t0003 a0003c0004t0004 a0003c0006t0002 a0003c0006t0005 a0005c0007t0001 a0005c0007t0003 a0005c0007t0026 a0005c0016t0003 a0008c0013t0008 a0008c0013t0019 a0010c0017t0003	a0003c0004t0003g0017 a0003c0004t0003g0038 a0003c0004t0004g0002 others(15): Show a0003c0004t0003g0017 a0003c0004t0003g0038 a0003c0004t0004g0002 a0003c0006t0002g0129 a0003c0006t0002g0139 a0003c0006t0005g0132 a0003c0006t0005g0137 a0003c0006t0005g0149 a0005c0007t0001g0122 a0005c0007t0003g0072 a0005c0007t0003g0113 a0005c0007t0003g0119 a0005c0007t0026g0123 a0005c0016t0003g0063 a0005c0016t0003g0161 a0008c0013t0008g0073 a0008c0013t0019g0185 a0010c0017t0003g0111	18	186	0.0968	15	c.128 others(34): Show c.1286-1610_1286-1609insAAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107608893	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp1 HG03017.hp2 others(3): Show HG00140.hp1 HG01361.hp1 HG03017.hp2 NA18942.hp2 NA18989.hp2 NA19002.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0002c0015 a0003c0004 others(2): Show a0001c0003 a0002c0015 a0003c0004 a0003c0006 a0005c0007	a0001c0003t0002 a0002c0015t0001 a0003c0004t0003 others(2): Show a0001c0003t0002 a0002c0015t0001 a0003c0004t0003 a0003c0006t0002 a0005c0007t0003	a0001c0003t0002g0138 a0002c0015t0001g0043 a0003c0004t0003g0035 others(3): Show a0001c0003t0002g0138 a0002c0015t0001g0043 a0003c0004t0003g0035 a0003c0006t0002g0129 a0005c0007t0003g0072 a0005c0007t0003g0113	6	186	0.0323	15	c.164 others(34): Show c.1644-1259_1644-1245dupATAAAATAAAATAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49803239	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19080.hp2 NA19086.hp1 others(1): Show HG02451.hp1 NA19080.hp2 NA19086.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0098 a0001c0001t0002g0051 a0001c0001t0008g0231 others(1): Show a0001c0001t0001g0098 a0001c0001t0002g0051 a0001c0001t0008g0231 a0002c0002t0001g0133	4	434	0.0092	15	c.17- others(28): Show c.17-401_17-387dupATTATTATTATTATT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	1/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37099440	T T	TGGAGGGC others(8): Show TGGAGGGCTGATGGCG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp2 HG01255.hp1 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0151 a0001c0002t0001g0135 a0001c0002t0001g0151	2	299	0.0067	15	c.656 others(34): Show c.6566-1471_6566-1457dupCGCCATCAGCCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37099470	T T	TGGAGGGC others(8): Show TGGAGGGCTGATGGCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	299	0.0033	15	c.656 others(34): Show c.6566-1487_6566-1486insCGCCATCAGCCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37099514	C C	CAGGAGGG others(8): Show CAGGAGGGCTGATGGG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0241 a0001c0003t0001g0241	1	299	0.0033	15	c.656 others(34): Show c.6566-1545_6566-1531dupCCCATCAGCCCTCCT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37099590	A A	AGGAGGGC others(8): Show AGGAGGGCTGATGGCG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0182 a0001c0001t0003g0183	2	299	0.0067	15	c.656 others(34): Show c.6566-1621_6566-1607dupCGCCATCAGCCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37112073	T T	TCTATCTA others(8): Show TCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	299	0.0033	15	c.645 others(32): Show c.6453-431_6453-430insTAGATAGATAGATAG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	51/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19003.hp2 NA18954.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0142 a0001c0003t0001g0058 a0001c0001t0001g0142 a0001c0003t0001g0058	2	299	0.0067	15	c.508 others(34): Show c.5080-1161_5080-1147dupTTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	299	0.0033	15	c.507 others(34): Show c.5079+5239_5079+5240insAAATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19057.hp1 NA19062.hp1 NA18945.hp2 NA19057.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0141 a0001c0001t0001g0203 a0001c0001t0001g0216	3	299	0.0100	15	c.507 others(34): Show c.5079+5239_5079+5240insAAAAAAAAATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	299	0.0033	15	c.507 others(34): Show c.5079+5239_5079+5240insAAAAAAAAAAATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174021	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp1 homoSapiens_chm13v2.hp1 NA18975.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0029 a0001c0002t0001 a0001c0002t0029	a0001c0002t0001g0127 a0001c0002t0029g0089 a0001c0002t0001g0127 a0001c0002t0029g0089	2	299	0.0067	15	c.507 others(34): Show c.5079+5238_5079+5239insTATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar

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