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
ACAA2_chr18_49777164_49818533	49784495	A A	AAAATTAT others(11): Show AAAATTATCCAGGAATTAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19091.hp1 NA18954.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0102 a0002c0002t0004g0103 a0002c0002t0001g0102 a0002c0002t0004g0103	2	434	0.0046	18	c.111 others(35): Show c.1110-582_1110-565dupGTAATTCCTGGATAATTT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	9/9			chr18	TogoVar
ACAA2_chr18_49777164_49818533	49801785	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03017.hp1 NA18950.hp2 others(5): Show HG00544.hp2 HG03017.hp1 NA18950.hp2 NA18952.hp1 NA18971.hp2 NA18973.hp2 NA19000.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0002c0002t0001g0099 others(5): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0002c0002t0001g0099 a0002c0002t0001g0125 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0140	8	434	0.0184	18	c.183 others(33): Show c.183+884_183+901dupATATATATATATATATAT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACAA2_chr18_49777164_49818533	49801814	A A	ATATATAT others(11): Show ATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	434	0.0023	18	c.183 others(33): Show c.183+872_183+873insGATATATATATATATATA	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp1 others(44): Show HG00099.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01361.hp2 HG01981.hp1 HG02015.hp2 HG02071.hp2 HG02293.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03209.hp2 HG03669.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18964.hp2 NA18969.hp2 NA18979.hp1 NA18984.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19066.hp2 NA19083.hp1 NA19090.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0083 others(44): Show a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0002g0020 a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0007g0093 a0001c0001t0009g0024 a0001c0001t0009g0031 a0001c0001t0017g0001 a0001c0001t0024g0214 a0001c0001t0026g0230 a0001c0001t0027g0291 a0001c0002t0001g0150 a0001c0009t0001g0261	47	299	0.1572	18	c.59 others(29): Show c.5992_*5993insACACACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18969.hp1 NA19011.hp1 others(2): Show HG03704.hp2 NA18969.hp1 NA19011.hp1 NA19076.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0016 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0002 a0001c0003t0006	a0001c0001t0001g0099 a0001c0001t0016g0204 a0001c0001t0016g0235 others(2): Show a0001c0001t0001g0099 a0001c0001t0016g0204 a0001c0001t0016g0235 a0001c0003t0002g0014 a0001c0003t0006g0144	5	299	0.0167	18	c.508 others(37): Show c.5080-1164_5080-1147dupTTTTTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03492.hp1 NA19090.hp2 HG00099.hp1 HG03492.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010	a0001c0002t0001g0128 a0001c0002t0002g0021 a0001c0002t0010g0017 a0001c0002t0001g0128 a0001c0002t0002g0021 a0001c0002t0010g0017	3	299	0.0100	18	c.507 others(37): Show c.5079+5260_5079+5277dupTATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19056.hp1 NA19083.hp2 NA18990.hp2 NA19056.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0001 a0001c0002t0022	a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0022g0036 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0022g0036	3	299	0.0100	18	c.507 others(37): Show c.5079+5239_5079+5240insAATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0158 a0001c0004t0005g0158	1	299	0.0033	18	c.507 others(37): Show c.5079+5239_5079+5240insAAAATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37177269	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	299	0.0033	18	c.507 others(37): Show c.5079+1973_5079+1990dupACACACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01099.hp1 others(19): Show HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01123.hp2 HG01261.hp2 HG01496.hp2 HG02004.hp1 HG02622.hp2 HG02723.hp1 HG02895.hp2 HG02976.hp1 HG03209.hp2 NA18964.hp2 NA18972.hp1 NA18979.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19076.hp2 NA19085.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0032	a0001c0001t0001g0138 a0001c0001t0001g0205 a0001c0001t0001g0206 others(19): Show a0001c0001t0001g0138 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0293 a0001c0001t0002g0022 a0001c0001t0003g0116 a0001c0001t0004g0115 a0001c0001t0004g0159 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0188 a0001c0001t0006g0207 a0001c0001t0009g0031 a0001c0001t0016g0204 a0001c0001t0016g0235 a0001c0001t0032g0296	22	299	0.0736	18	c.339 others(35): Show c.339-6191_339-6174dupGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37316302	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	299	0.0033	18	c.338 others(37): Show c.338+13853_338+13870dupGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(11): Show TATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	299	0.0033	18	c.38+ others(35): Show c.38+16086_38+16087insGTGTGTGTGTGTATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0097 a0001c0002t0001g0101	2	299	0.0067	18	c.38+ others(35): Show c.38+16086_38+16087insGTGTGTGTGTATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02572.hp1 HG01515.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0184 a0001c0002t0008g0043 a0001c0001t0001g0184 a0001c0002t0008g0043	2	299	0.0067	18	c.38+ others(35): Show c.38+16086_38+16087insGTGTGTGTATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03669.hp2 HG03942.hp2 others(3): Show HG00621.hp2 HG03669.hp2 HG03942.hp2 NA19010.hp2 NA19065.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0014 a0001c0002t0001 a0001c0003t0001 a0001c0003t0014	a0001c0002t0001g0062 a0001c0003t0001g0054 a0001c0003t0001g0068 others(3): Show a0001c0002t0001g0062 a0001c0003t0001g0054 a0001c0003t0001g0068 a0001c0003t0001g0077 a0001c0003t0001g0082 a0001c0003t0014g0111	6	299	0.0201	18	c.38+ others(35): Show c.38+16086_38+16087insGTGTATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390285	A A	ATATTATA others(11): Show ATATTATATATAATTATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	299	0.0033	18	c.38+ others(35): Show c.38+15976_38+15977insATATAATTATATATAATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0119 a0001c0006t0005g0119	1	299	0.0033	18	c.38+ others(35): Show c.38+15957_38+15958insTATATATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(11): Show ATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	299	0.0033	18	c.38+ others(35): Show c.38+15931_38+15932insGATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(11): Show ATATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	299	0.0033	18	c.38+ others(35): Show c.38+15931_38+15932insGATATATAGATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATCTATAT others(11): Show ATCTATATATCTATATATC	intron_variant intron_variant	MODIFIER	NA19074.hp2 homoSapiens_chm13v2.hp1 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0029 a0001c0003t0001 a0001c0002t0029 a0001c0003t0001	a0001c0002t0029g0089 a0001c0003t0001g0077 a0001c0002t0029g0089 a0001c0003t0001g0077	2	299	0.0067	18	c.38+ others(35): Show c.38+15931_38+15932insGATATATAGATATATAGA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37406794	C C	CAGCACCC others(11): Show CAGCACCCGGCGGGGGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	299	0.0033	18	c.-51 others(27): Show c.-513_-496dupAGGCCCCCGCCGGGTGCT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/56	496		chr17	TogoVar
ACACB_chr12_109111587_109273226	109157272	G G	GTTATTAT others(11): Show GTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02523.hp1 HG02559.hp2 others(15): Show HG02145.hp2 HG02523.hp1 HG02559.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 NA18981.hp1 NA18992.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0026 a0033	a0001c0004 a0001c0022 a0002c0092 others(11): Show a0001c0004 a0001c0022 a0002c0092 a0003c0001 a0003c0005 a0004c0008 a0004c0040 a0006c0026 a0006c0078 a0007c0037 a0007c0057 a0010c0073 a0026c0066 a0033c0063	a0001c0004t0017 a0001c0022t0004 a0002c0092t0010 others(11): Show a0001c0004t0017 a0001c0022t0004 a0002c0092t0010 a0003c0001t0001 a0003c0005t0002 a0004c0008t0001 a0004c0040t0002 a0006c0026t0002 a0006c0078t0001 a0007c0037t0004 a0007c0057t0004 a0010c0073t0014 a0026c0066t0015 a0033c0063t0010	a0001c0004t0017g0003 a0001c0022t0004g0004 a0001c0022t0004g0005 others(15): Show a0001c0004t0017g0003 a0001c0022t0004g0004 a0001c0022t0004g0005 a0001c0022t0004g0006 a0001c0022t0004g0007 a0002c0092t0010g0192 a0003c0001t0001g0087 a0003c0005t0002g0299 a0004c0008t0001g0218 a0004c0040t0002g0213 a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0078t0001g0181 a0007c0037t0004g0200 a0007c0057t0004g0207 a0010c0073t0014g0208 a0026c0066t0015g0115 a0033c0063t0010g0117	18	308	0.0584	18	c.654 others(35): Show c.654-9579_654-9562dupTTATTATTATTATTATTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GCATATAT others(11): Show GCATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0004 a0001c0039t0004	a0001c0039t0004g0116 a0001c0039t0004g0116	1	308	0.0033	18	c.787 others(33): Show c.787-275_787-274insCATATATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(23): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00673.hp2 HG01106.hp1 HG01943.hp1 HG02080.hp2 HG02132.hp1 HG03239.hp2 HG03486.hp1 NA18747.hp2 NA18942.hp1 NA18952.hp1 NA18960.hp1 NA18979.hp2 NA18988.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19085.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0019 a0022 a0024 a0025	a0001c0012 a0001c0013 a0001c0016 others(14): Show a0001c0012 a0001c0013 a0001c0016 a0001c0045 a0001c0046 a0001c0109 a0002c0020 a0002c0021 a0002c0028 a0002c0088 a0002c0110 a0003c0001 a0005c0009 a0019c0093 a0022c0084 a0024c0091 a0025c0090	a0001c0012t0002 a0001c0013t0001 a0001c0016t0009 others(14): Show a0001c0012t0002 a0001c0013t0001 a0001c0016t0009 a0001c0045t0002 a0001c0046t0002 a0001c0109t0002 a0002c0020t0003 a0002c0021t0003 a0002c0028t0003 a0002c0088t0006 a0002c0110t0003 a0003c0001t0001 a0005c0009t0003 a0019c0093t0001 a0022c0084t0004 a0024c0091t0002 a0025c0090t0003	a0001c0012t0002g0045 a0001c0012t0002g0251 a0001c0012t0002g0259 others(23): Show a0001c0012t0002g0045 a0001c0012t0002g0251 a0001c0012t0002g0259 a0001c0012t0002g0262 a0001c0013t0001g0163 a0001c0013t0001g0248 a0001c0016t0009g0305 a0001c0045t0002g0234 a0001c0046t0002g0190 a0001c0109t0002g0276 a0002c0020t0003g0120 a0002c0020t0003g0233 a0002c0021t0003g0253 a0002c0028t0003g0179 a0002c0088t0006g0247 a0002c0110t0003g0268 a0003c0001t0001g0087 a0003c0001t0001g0138 a0003c0001t0001g0145 a0003c0001t0001g0147 a0005c0009t0003g0061 a0005c0009t0003g0164 a0019c0093t0001g0159 a0022c0084t0004g0254 a0024c0091t0002g0174 a0025c0090t0003g0130	26	308	0.0844	18	c.787 others(33): Show c.787-259_787-242dupATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109194512	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0002 a0004c0040t0002	a0004c0040t0002g0215 a0004c0040t0002g0215	1	308	0.0033	18	c.248 others(35): Show c.2481+803_2481+820dupGTGTGTGTGTGTGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109206428	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03579.hp1 HG01081.hp1 HG03579.hp1	a0001 a0027 a0001 a0027	a0001c0003 a0027c0065 a0001c0003 a0027c0065	a0001c0003t0004 a0027c0065t0005 a0001c0003t0004 a0027c0065t0005	a0001c0003t0004g0074 a0027c0065t0005g0225 a0001c0003t0004g0074 a0027c0065t0005g0225	2	308	0.0065	18	c.291 others(35): Show c.2914-266_2914-265insAAAAAAAAAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	19/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210003	A A	ATATACAC others(11): Show ATATACACACATACGTATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02723.hp2 HG03669.hp1 others(1): Show HG00280.hp2 HG02723.hp2 HG03669.hp1 NA19010.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0010 a0001c0013 a0002c0061 others(1): Show a0001c0010 a0001c0013 a0002c0061 a0019c0093	a0001c0010t0001 a0001c0013t0001 a0002c0061t0003 others(1): Show a0001c0010t0001 a0001c0013t0001 a0002c0061t0003 a0019c0093t0001	a0001c0010t0001g0188 a0001c0013t0001g0256 a0002c0061t0003g0062 others(1): Show a0001c0010t0001g0188 a0001c0013t0001g0256 a0002c0061t0003g0062 a0019c0093t0001g0159	4	308	0.0130	18	c.324 others(35): Show c.3249+651_3249+652insATACACACATACGTATGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210201	A A	ATATATAC others(11): Show ATATATACACACACGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0001 a0001c0111t0001	a0001c0111t0001g0275 a0001c0111t0001g0275	1	308	0.0033	18	c.324 others(35): Show c.3249+853_3249+854insACACACACGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210201	A A	ATATATAC others(11): Show ATATATACACACATGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01255.hp2 others(15): Show HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG02145.hp1 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03490.hp2 HG03654.hp2 HG03831.hp2 HG03834.hp2 NA18950.hp1 NA18988.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0004 a0007 others(3): Show a0001 a0004 a0007 a0013 a0014 a0038	a0001c0002 a0001c0003 a0001c0011 others(9): Show a0001c0002 a0001c0003 a0001c0011 a0001c0018 a0001c0022 a0001c0055 a0001c0105 a0004c0040 a0007c0101 a0013c0033 a0014c0079 a0038c0082	a0001c0002t0001 a0001c0002t0021 a0001c0003t0002 others(10): Show a0001c0002t0001 a0001c0002t0021 a0001c0003t0002 a0001c0011t0001 a0001c0018t0011 a0001c0022t0004 a0001c0055t0001 a0001c0105t0004 a0004c0040t0002 a0007c0101t0002 a0013c0033t0002 a0014c0079t0004 a0038c0082t0002	a0001c0002t0001g0114 a0001c0002t0021g0243 a0001c0003t0002g0094 others(15): Show a0001c0002t0001g0114 a0001c0002t0021g0243 a0001c0003t0002g0094 a0001c0003t0002g0112 a0001c0011t0001g0157 a0001c0018t0011g0047 a0001c0022t0004g0004 a0001c0022t0004g0005 a0001c0022t0004g0006 a0001c0022t0004g0007 a0001c0055t0001g0226 a0001c0105t0004g0296 a0004c0040t0002g0213 a0007c0101t0002g0086 a0013c0033t0002g0185 a0013c0033t0002g0189 a0014c0079t0004g0180 a0038c0082t0002g0127	18	308	0.0584	18	c.324 others(35): Show c.3249+853_3249+854insACACACATGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ACATATAC others(11): Show ACATATACACACATGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0098 a0001c0098	a0001c0098t0001 a0001c0098t0001	a0001c0098t0001g0286 a0001c0098t0001g0286	1	308	0.0033	18	c.324 others(35): Show c.3249+882_3249+883insCATATACACACATGTGTG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ATATATAC others(11): Show ATATATACACACACGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0003 a0002c0024t0003	a0002c0024t0003g0093 a0002c0024t0003g0093	1	308	0.0033	18	c.324 others(35): Show c.3249+887_3249+888insACACACACGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ATATATAC others(11): Show ATATATACACACATGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00639.hp2 others(34): Show HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01070.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG02040.hp1 HG02080.hp1 HG02109.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp2 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03710.hp2 HG04115.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18961.hp2 NA18979.hp2 NA18983.hp2 NA18987.hp1 NA18988.hp1 NA19068.hp2 NA19240.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0023	a0001c0002 a0001c0003 a0001c0012 others(13): Show a0001c0002 a0001c0003 a0001c0012 a0001c0018 a0001c0029 a0001c0060 a0002c0006 a0002c0017 a0002c0053 a0003c0001 a0003c0005 a0005c0009 a0007c0030 a0008c0015 a0008c0044 a0023c0099	a0001c0002t0001 a0001c0002t0021 a0001c0003t0002 others(17): Show a0001c0002t0001 a0001c0002t0021 a0001c0003t0002 a0001c0003t0004 a0001c0012t0002 a0001c0018t0002 a0001c0018t0011 a0001c0029t0002 a0001c0060t0002 a0002c0006t0003 a0002c0006t0005 a0002c0017t0024 a0002c0053t0005 a0003c0001t0008 a0003c0005t0002 a0005c0009t0006 a0007c0030t0002 a0008c0015t0005 a0008c0044t0025 a0023c0099t0001	a0001c0002t0001g0081 a0001c0002t0001g0109 a0001c0002t0001g0114 others(34): Show a0001c0002t0001g0081 a0001c0002t0001g0109 a0001c0002t0001g0114 a0001c0002t0021g0243 a0001c0003t0002g0068 a0001c0003t0002g0077 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0244 a0001c0003t0004g0300 a0001c0012t0002g0250 a0001c0012t0002g0251 a0001c0018t0002g0048 a0001c0018t0002g0049 a0001c0018t0011g0047 a0001c0029t0002g0096 a0001c0060t0002g0272 a0002c0006t0003g0092 a0002c0006t0003g0095 a0002c0006t0003g0107 a0002c0006t0003g0194 a0002c0006t0005g0284 a0002c0006t0005g0294 a0002c0017t0024g0044 a0002c0053t0005g0033 a0003c0001t0008g0128 a0003c0005t0002g0059 a0003c0005t0002g0060 a0003c0005t0002g0246 a0003c0005t0002g0264 a0005c0009t0006g0148 a0007c0030t0002g0110 a0008c0015t0005g0171 a0008c0015t0005g0172 a0008c0015t0005g0173 a0008c0044t0025g0166 a0023c0099t0001g0084	37	308	0.1201	18	c.324 others(35): Show c.3249+887_3249+888insACACACATGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ATATATAC others(11): Show ATATATACACACGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG01891.hp2 HG02809.hp2	a0009 a0034 a0009 a0034	a0009c0103 a0034c0102 a0009c0103 a0034c0102	a0009c0103t0004 a0034c0102t0018 a0009c0103t0004 a0034c0102t0018	a0009c0103t0004g0165 a0034c0102t0018g0195 a0009c0103t0004g0165 a0034c0102t0018g0195	2	308	0.0065	18	c.324 others(35): Show c.3249+887_3249+888insACACACGTGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ATATATGC others(11): Show ATATATGCACACATGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0108 a0001c0029t0002g0108	1	308	0.0033	18	c.324 others(35): Show c.3249+888_3249+889insCACACATGTGTGTATATG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00621.hp1 others(16): Show HG00099.hp2 HG00597.hp2 HG00621.hp1 HG01943.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02559.hp2 HG02723.hp2 HG03209.hp1 HG03704.hp2 HG04115.hp1 NA18946.hp1 NA18962.hp2 NA18979.hp1 NA19010.hp1 NA19066.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0019 a0020 a0022 a0026	a0001c0002 a0001c0010 a0001c0011 others(12): Show a0001c0002 a0001c0010 a0001c0011 a0001c0054 a0001c0107 a0002c0021 a0002c0086 a0003c0001 a0004c0008 a0004c0112 a0005c0009 a0019c0093 a0020c0052 a0022c0084 a0026c0066	a0001c0002t0001 a0001c0010t0001 a0001c0011t0001 others(12): Show a0001c0002t0001 a0001c0010t0001 a0001c0011t0001 a0001c0054t0001 a0001c0107t0012 a0002c0021t0006 a0002c0086t0003 a0003c0001t0001 a0004c0008t0001 a0004c0112t0001 a0005c0009t0006 a0019c0093t0001 a0020c0052t0001 a0022c0084t0004 a0026c0066t0015	a0001c0002t0001g0085 a0001c0002t0001g0191 a0001c0010t0001g0188 others(16): Show a0001c0002t0001g0085 a0001c0002t0001g0191 a0001c0010t0001g0188 a0001c0011t0001g0013 a0001c0054t0001g0203 a0001c0107t0012g0196 a0002c0021t0006g0255 a0002c0086t0003g0260 a0003c0001t0001g0136 a0003c0001t0001g0145 a0003c0001t0001g0149 a0003c0001t0001g0154 a0004c0008t0001g0227 a0004c0112t0001g0119 a0005c0009t0006g0257 a0019c0093t0001g0159 a0020c0052t0001g0210 a0022c0084t0004g0254 a0026c0066t0015g0115	19	308	0.0617	18	c.678 others(35): Show c.6787+497_6787+514dupATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132641599	A A	AGAGGAGG others(11): Show AGAGGAGGAAGAAGAGGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19030.hp1 HG00673.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0294 a0001c0001t0002g0287 a0001c0001t0001g0294 a0001c0001t0002g0287	2	316	0.0063	18	c.537 others(33): Show c.537+372_537+373insCTCCTCTTCTTCCTCCTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACADM_chr1_75719709_75768679	75734160	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0291 a0001c0004t0005g0291	1	364	0.0028	18	c.387 others(33): Show c.387+536_387+553dupTTTTTTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75736173	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02717.hp1 others(3): Show HG01891.hp1 HG02615.hp1 HG02717.hp1 HG03098.hp2 HG03486.hp2 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0260 others(3): Show a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0006c0008t0001g0251	6	364	0.0165	18	c.468 others(35): Show c.468+1317_468+1334dupACACACACACACACACAC	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75737327	T T	TATATATA others(11): Show TATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	364	0.0028	18	c.468 others(35): Show c.468+2456_468+2457insATATATATATATATATGA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11			chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03491.hp1 HG03492.hp1 others(1): Show HG02896.hp2 HG03491.hp1 HG03492.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0002g0125 a0001c0001t0002g0129 others(1): Show a0001c0001t0001g0031 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0242	4	364	0.0110	18	c.946 others(33): Show c.946-559_946-542dupAAAAAAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADSB_chr10_123004006_123063290	123045131	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	374	0.0027	18	c.900 others(33): Show c.900+670_900+687dupATATATATATATATATAT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACADSB_chr10_123004006_123063290	123045171	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 homoSapiens_chm13v2.hp1 HG01256.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0007 a0003c0004 a0004c0007	a0003c0004t0014 a0004c0007t0006 a0003c0004t0014 a0004c0007t0006	a0003c0004t0014g0184 a0004c0007t0006g0288 a0003c0004t0014g0184 a0004c0007t0006g0288	2	374	0.0054	18	c.900 others(33): Show c.900+687_900+688insATATATATTTTTTTTTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0035 a0001c0002t0004g0035	1	324	0.0031	18	c.176 others(35): Show c.1765+110_1765+111insATATATTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0046 a0001c0002t0004g0046	1	324	0.0031	18	c.176 others(35): Show c.1765+110_1765+111insATATATATATATATTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195372987	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03710.hp1 HG00408.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0127 a0001c0001t0006g0094 a0001c0001t0003g0127 a0001c0001t0006g0094	2	324	0.0062	18	c.285 others(35): Show c.285+8004_285+8021dupTTTTTTTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288210	T T	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA19000.hp2 NA18977.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0182 a0001c0001t0002g0024 a0001c0001t0001g0182 a0001c0001t0002g0024	2	295	0.0068	18	c.53 others(29): Show c.5353_*5354insGGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4180		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288228	T T	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	295	0.0034	18	c.53 others(29): Show c.5335_*5336insGGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4162		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288233	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	295	0.0034	18	c.53 others(29): Show c.5330_*5331insGGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4157		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288361	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG03492.hp2 HG04115.hp1 others(1): Show HG01934.hp2 HG03492.hp2 HG04115.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0189 a0001c0001t0001g0201	4	295	0.0136	18	c.52 others(29): Show c.5202_*5203insGGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4029		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288451	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	295	0.0034	18	c.51 others(29): Show c.5112_*5113insGGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3939		chr1	TogoVar

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