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
ABLIM2_chr4_7960327_8163813	7980941	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01952.hp2 others(7): Show HG00140.hp2 HG01099.hp1 HG01952.hp2 HG02602.hp2 HG03927.hp1 NA18947.hp1 NA18948.hp2 NA18973.hp1 NA19011.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0274 a0001c0001t0002g0152 a0001c0001t0002g0246 others(7): Show a0001c0001t0001g0274 a0001c0001t0002g0152 a0001c0001t0002g0246 a0001c0001t0002g0312 a0001c0001t0003g0058 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0002t0001g0172 a0001c0002t0003g0159 a0001c0002t0003g0200	10	322	0.0311	20	c.182 others(39): Show c.1824+2303_1824+2322dupAAAAAAAAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8139235	A A	AGGGAGGG others(13): Show AGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0001t0007 a0001c0003t0007	a0001c0001t0007g0132 a0001c0003t0007g0218 a0001c0001t0007g0132 a0001c0003t0007g0218	2	322	0.0062	20	c.10+ others(37): Show c.10+19444_10+19445insCTCCCCTCCCCTCCCCTCCC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149170228	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03471.hp2 NA18978.hp1 others(1): Show HG02896.hp1 HG03471.hp2 NA18978.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0004t0004	a0001c0001t0002g0199 a0001c0001t0004g0119 a0001c0001t0006g0035 others(1): Show a0001c0001t0002g0199 a0001c0001t0004g0119 a0001c0001t0006g0035 a0002c0004t0004g0091	4	258	0.0155	20	c.14- others(37): Show c.14-13207_14-13188dupTCTCTCTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABRA_chr8_106754483_106775244	106758499	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	440	0.0023	20	c.25 others(31): Show c.2537_*2538insAAAAAAAAAAAAAAAAAAAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		983		chr8	TogoVar
ABR_chr17_998519_1184981	999323	C C	CTATATAT others(13): Show CTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	337	0.0030	20	c.67 others(31): Show c.6737_*6756dupTATATATATATATATATATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4195		chr17	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(13): Show TATATATATATACATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03471.hp1 HG02896.hp2 HG02897.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0016 a0001c0003t0080 a0001c0001t0008 a0001c0003t0016 a0001c0003t0080	a0001c0001t0008g0019 a0001c0003t0016g0229 a0001c0003t0080g0287 a0001c0001t0008g0019 a0001c0003t0016g0229 a0001c0003t0080g0287	3	337	0.0089	20	c.67 others(31): Show c.6721_*6722insGTATATATGTATATATATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	1025119	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	337	0.0030	20	c.179 others(41): Show c.1792-11956_1792-11955insTTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	337	0.0030	20	c.640 others(35): Show c.640-418_640-399dupTTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34214139	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02630.hp2 HG03139.hp2 others(2): Show HG01496.hp1 HG02630.hp2 HG03139.hp2 HG03453.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0143 a0001c0001t0001g0152 a0002c0002t0002g0226	5	246	0.0203	20	c.884 others(37): Show c.884-9469_884-9450dupGTGTGTGTGTGTGTGTGTGT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34325950	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG01891.hp1 others(3): Show HG00738.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0001c0004t0003 a0001c0005t0004	a0001c0001t0001g0074 a0001c0001t0001g0138 a0001c0001t0007g0075 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0138 a0001c0001t0007g0075 a0001c0004t0001g0148 a0001c0004t0003g0175 a0001c0005t0004g0149	6	246	0.0244	20	c.883 others(39): Show c.883+30731_883+30750dupATTTTATTTTATTTTATTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107469920	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0004 a0017c0028t0004	a0017c0028t0004g0044 a0017c0028t0004g0044	1	186	0.0054	20	c.113 others(41): Show c.1136-50564_1136-50563insTTCTTTCTTTCTTTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107481883	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp1 HG02602.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0012 a0001c0001t0021 a0002c0002t0012	a0001c0001t0021g0025 a0002c0002t0012g0177 a0001c0001t0021g0025 a0002c0002t0012g0177	2	186	0.0108	20	c.113 others(41): Show c.1136-38578_1136-38559dupCTCTCTCTCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107608893	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp1 HG01496.hp1 HG01978.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0005 a0003c0006t0002 a0003c0006t0005	a0003c0006t0002g0139 a0003c0006t0005g0137 a0003c0006t0002g0139 a0003c0006t0005g0137	2	186	0.0108	20	c.164 others(39): Show c.1644-1264_1644-1245dupATAAAATAAAATAAAATAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107608968	T T	TATAAAAT others(13): Show TATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0009 a0004c0005t0009	a0004c0005t0009g0097 a0004c0005t0009g0097	1	186	0.0054	20	c.164 others(39): Show c.1644-1196_1644-1177dupATAAAATAAAATAAAATAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107648380	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG01074.hp2 others(4): Show HG00099.hp2 HG00423.hp1 HG01074.hp2 HG01943.hp2 NA18989.hp2 NA19002.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0002c0009 a0002c0031 others(4): Show a0001c0003 a0002c0009 a0002c0031 a0003c0004 a0003c0006 a0005c0007 a0005c0016	a0001c0003t0005 a0002c0009t0003 a0002c0031t0003 others(4): Show a0001c0003t0005 a0002c0009t0003 a0002c0031t0003 a0003c0004t0003 a0003c0006t0005 a0005c0007t0003 a0005c0016t0003	a0001c0003t0005g0135 a0002c0009t0003g0064 a0002c0031t0003g0066 others(4): Show a0001c0003t0005g0135 a0002c0009t0003g0064 a0002c0031t0003g0066 a0003c0004t0003g0035 a0003c0006t0005g0132 a0005c0007t0003g0113 a0005c0016t0003g0161	7	186	0.0376	20	c.292 others(37): Show c.2923-811_2923-792dupCACACACACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49801785	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG01106.hp1 others(5): Show HG00673.hp1 HG01070.hp2 HG01106.hp1 HG01516.hp2 HG02056.hp1 HG02572.hp1 HG04228.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0030 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0030 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0120 others(5): Show a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0030g0124 a0002c0002t0001g0105 a0002c0002t0001g0121 a0002c0002t0004g0132	8	434	0.0184	20	c.183 others(35): Show c.183+882_183+901dupATATATATATATATATATAT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0235 a0001c0001t0016g0235	1	299	0.0033	20	c.59 others(31): Show c.5992_*5993insACACACACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37112049	A A	ACTATCTA others(13): Show ACTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01358.hp2 HG01891.hp1 others(9): Show HG00733.hp1 HG01358.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG04184.hp2 NA18966.hp1 NA18999.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0004t0005 a0001c0004t0031 a0001c0004t0033 a0001c0007t0003	a0001c0001t0001g0293 a0001c0001t0003g0052 a0001c0001t0003g0121 others(9): Show a0001c0001t0001g0293 a0001c0001t0003g0052 a0001c0001t0003g0121 a0001c0001t0003g0146 a0001c0003t0003g0238 a0001c0004t0005g0040 a0001c0004t0005g0117 a0001c0004t0005g0120 a0001c0004t0005g0277 a0001c0004t0031g0129 a0001c0004t0033g0298 a0001c0007t0003g0067	12	299	0.0401	20	c.645 others(37): Show c.6453-426_6453-407dupATAGATAGATAGATAGATAG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	51/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02280.hp2 others(4): Show HG01109.hp1 HG01891.hp2 HG02280.hp2 HG02572.hp2 HG03540.hp1 NA18966.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0005 a0001c0003t0001 a0001c0004t0005	a0001c0003t0001g0209 a0001c0004t0005g0087 a0001c0004t0005g0090 others(4): Show a0001c0003t0001g0209 a0001c0004t0005g0087 a0001c0004t0005g0090 a0001c0004t0005g0118 a0001c0004t0005g0137 a0001c0004t0005g0158 a0001c0004t0005g0268	7	299	0.0234	20	c.508 others(39): Show c.5080-1166_5080-1147dupTTTTTTTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	299	0.0033	20	c.507 others(39): Show c.5079+5258_5079+5277dupTATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18950.hp2 HG02965.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0086 a0001c0002t0002g0011 a0001c0002t0001g0086 a0001c0002t0002g0011	2	299	0.0067	20	c.507 others(39): Show c.5079+5239_5079+5240insAATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	299	0.0033	20	c.507 others(39): Show c.5079+5239_5079+5240insAAAAAAAAAATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	299	0.0033	20	c.507 others(39): Show c.5079+5239_5079+5240insAAAAAAAAAAAAAATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268725	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0117 a0001c0004t0005g0117	1	299	0.0033	20	c.111 others(39): Show c.1119+2025_1119+2026insTATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268741	C C	CTATCTAT others(13): Show CTATCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0248 a0003c0008t0003g0248	1	299	0.0033	20	c.111 others(39): Show c.1119+2009_1119+2010insTATATATATATATATAGATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02257.hp1 HG02630.hp1 others(10): Show HG00544.hp1 HG02257.hp1 HG02630.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 NA18906.hp2 NA18945.hp2 NA18946.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0028 a0001c0004t0005	a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0139 others(10): Show a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0228 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0007g0093 a0001c0001t0028g0264 a0001c0004t0005g0153 a0001c0004t0005g0192	13	299	0.0435	20	c.339 others(37): Show c.339-6193_339-6174dupGTGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37316302	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	299	0.0033	20	c.338 others(39): Show c.338+13851_338+13870dupGTGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37328661	A A	ACAGGATT others(13): Show ACAGGATTTTATTATAGAGTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0299 a0001c0001t0035g0299	1	299	0.0033	20	c.338 others(37): Show c.338+1492_338+1511dupAACTCTATAATAAAATCCTG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(13): Show TATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03516.hp2 NA19043.hp1 HG01358.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0034 a0001c0004t0033 a0001c0002t0001 a0001c0002t0034 a0001c0004t0033	a0001c0002t0001g0103 a0001c0002t0034g0297 a0001c0004t0033g0298 a0001c0002t0001g0103 a0001c0002t0034g0297 a0001c0004t0033g0298	3	299	0.0100	20	c.38+ others(37): Show c.38+16086_38+16087insGTGTGTGTGTGTATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0042 a0001c0002t0008g0042	1	299	0.0033	20	c.38+ others(37): Show c.38+16086_38+16087insGTGTGTGTATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03491.hp1 NA18945.hp1 others(4): Show HG00558.hp1 HG03491.hp1 NA18945.hp1 NA18964.hp1 NA18990.hp2 NA18991.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0013 a0002c0013t0001	a0001c0001t0001g0059 a0001c0002t0001g0055 a0001c0003t0001g0069 others(4): Show a0001c0001t0001g0059 a0001c0002t0001g0055 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0080 a0001c0003t0013g0072 a0002c0013t0001g0071	7	299	0.0234	20	c.38+ others(37): Show c.38+16086_38+16087insGTGTATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19005.hp2 HG00735.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0223 a0001c0001t0001g0198 a0001c0001t0001g0223	2	299	0.0067	20	c.38+ others(37): Show c.38+15938_38+15957dupTATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0120 a0001c0004t0005g0277 a0001c0004t0005g0120 a0001c0004t0005g0277	2	299	0.0067	20	c.38+ others(37): Show c.38+15957_38+15958insTATATATATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(13): Show ATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02970.hp1 HG03579.hp1 others(1): Show HG02015.hp1 HG02970.hp1 HG03579.hp1 NA18966.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0003c0008	a0001c0002t0001 a0001c0003t0001 a0001c0004t0005 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0005 a0003c0008t0003	a0001c0002t0001g0286 a0001c0003t0001g0209 a0001c0004t0005g0192 others(1): Show a0001c0002t0001g0286 a0001c0003t0001g0209 a0001c0004t0005g0192 a0003c0008t0003g0248	4	299	0.0134	20	c.38+ others(37): Show c.38+15931_38+15932insGATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(13): Show ATATATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19000.hp2 NA19074.hp1 HG00558.hp1 NA19000.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0013 a0001c0002t0001 a0001c0003t0013	a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0003t0013g0072 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0003t0013g0072	3	299	0.0100	20	c.38+ others(37): Show c.38+15931_38+15932insGATATATAGATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03516.hp1 HG03579.hp2 others(6): Show HG01074.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18959.hp1 NA18966.hp2 NA19063.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0011 a0015 a0021	a0001c0046 a0001c0050 a0002c0021 others(6): Show a0001c0046 a0001c0050 a0002c0021 a0002c0070 a0002c0092 a0003c0005 a0011c0027 a0015c0114 a0021c0068	a0001c0046t0002 a0001c0050t0001 a0002c0021t0003 others(6): Show a0001c0046t0002 a0001c0050t0001 a0002c0021t0003 a0002c0070t0005 a0002c0092t0010 a0003c0005t0002 a0011c0027t0004 a0015c0114t0004 a0021c0068t0001	a0001c0046t0002g0067 a0001c0050t0001g0277 a0002c0021t0003g0252 others(6): Show a0001c0046t0002g0067 a0001c0050t0001g0277 a0002c0021t0003g0252 a0002c0070t0005g0199 a0002c0092t0010g0192 a0003c0005t0002g0134 a0011c0027t0004g0249 a0015c0114t0004g0009 a0021c0068t0001g0202	9	308	0.0292	20	c.787 others(35): Show c.787-261_787-242dupATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210280	C C	CATGTGTG others(13): Show CATGTGTGTATATGTATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0251 a0001c0012t0002g0251	1	308	0.0033	20	c.324 others(37): Show c.3249+928_3249+929insTGTGTGTATATGTATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210312	C C	CATGTGTG others(13): Show CATGTGTGTATATGTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0120 a0006c0120	a0006c0120t0003 a0006c0120t0003	a0006c0120t0003g0043 a0006c0120t0003g0043	1	308	0.0033	20	c.324 others(37): Show c.3249+960_3249+961insTGTGTGTATATGTATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109222294	C C	CGAGTGAG others(13): Show CGAGTGAGTGAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00544.hp1 others(61): Show HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp2 HG01884.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp2 HG02818.hp2 HG03017.hp2 HG03669.hp1 HG03831.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18945.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19074.hp2 NA19080.hp2 NA19085.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0012 a0015 a0016 a0017 a0019 a0026 a0028 a0029 a0037	a0001c0002 a0001c0003 a0001c0010 others(27): Show a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0001c0023 a0001c0029 a0001c0064 a0002c0006 a0002c0017 a0002c0024 a0002c0043 a0002c0061 a0002c0086 a0003c0001 a0003c0005 a0004c0008 a0004c0112 a0005c0009 a0007c0037 a0009c0096 a0011c0027 a0012c0035 a0015c0119 a0016c0047 a0017c0123 a0019c0093 a0026c0066 a0028c0100 a0029c0085 a0037c0072	a0001c0002t0001 a0001c0003t0002 a0001c0010t0001 others(31): Show a0001c0002t0001 a0001c0003t0002 a0001c0010t0001 a0001c0010t0002 a0001c0013t0001 a0001c0023t0004 a0001c0029t0011 a0001c0064t0009 a0002c0006t0005 a0002c0006t0014 a0002c0017t0003 a0002c0024t0003 a0002c0043t0003 a0002c0061t0003 a0002c0086t0003 a0003c0001t0001 a0003c0001t0004 a0003c0005t0002 a0004c0008t0001 a0004c0112t0001 a0005c0009t0006 a0007c0037t0004 a0009c0096t0009 a0011c0027t0004 a0011c0027t0013 a0012c0035t0004 a0015c0119t0004 a0016c0047t0002 a0017c0123t0015 a0019c0093t0001 a0026c0066t0015 a0028c0100t0001 a0029c0085t0003 a0037c0072t0001	a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0079 others(61): Show a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0091 a0001c0002t0001g0191 a0001c0002t0001g0235 a0001c0003t0002g0099 a0001c0003t0002g0244 a0001c0010t0001g0188 a0001c0010t0002g0021 a0001c0013t0001g0163 a0001c0013t0001g0248 a0001c0013t0001g0256 a0001c0023t0004g0121 a0001c0029t0011g0090 a0001c0064t0009g0184 a0002c0006t0005g0123 a0002c0006t0014g0080 a0002c0017t0003g0025 a0002c0017t0003g0042 a0002c0024t0003g0302 a0002c0043t0003g0012 a0002c0061t0003g0062 a0002c0086t0003g0260 a0003c0001t0001g0087 a0003c0001t0001g0136 a0003c0001t0001g0137 a0003c0001t0001g0140 a0003c0001t0001g0141 a0003c0001t0001g0142 a0003c0001t0001g0143 a0003c0001t0001g0147 a0003c0001t0001g0149 a0003c0001t0001g0158 a0003c0001t0001g0265 a0003c0001t0001g0297 a0003c0001t0001g0298 a0003c0001t0004g0139 a0003c0001t0004g0266 a0003c0005t0002g0129 a0003c0005t0002g0134 a0003c0005t0002g0240 a0003c0005t0002g0299 a0004c0008t0001g0198 a0004c0008t0001g0221 a0004c0008t0001g0227 a0004c0112t0001g0119 a0005c0009t0006g0177 a0007c0037t0004g0073 a0009c0096t0009g0295 a0011c0027t0004g0150 a0011c0027t0004g0249 a0011c0027t0013g0065 a0012c0035t0004g0063 a0012c0035t0004g0082 a0015c0119t0004g0169 a0016c0047t0002g0175 a0016c0047t0002g0176 a0017c0123t0015g0058 a0019c0093t0001g0159 a0026c0066t0015g0115 a0028c0100t0001g0070 a0029c0085t0003g0238 a0037c0072t0001g0217	64	308	0.2078	20	c.356 others(37): Show c.3565-210_3565-191dupGTGAGTGAGTGAGTGAGTGA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	24/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109259181	A A	ATGTCCTA others(13): Show ATGTCCTAATGTCCTAGTCTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0032 a0032	a0032c0059 a0032c0059	a0032c0059t0002 a0032c0059t0002	a0032c0059t0002g0038 a0032c0059t0002g0038	1	308	0.0033	20	c.649 others(35): Show c.6496+75_6496+76insTCCTAATGTCCTAGTCTGTG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	47/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01261.hp1 HG02109.hp2 others(12): Show HG01070.hp1 HG01261.hp1 HG02109.hp2 HG03017.hp1 HG03139.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18945.hp2 NA18950.hp1 NA18955.hp1 NA18983.hp1 NA18988.hp1 NA19004.hp1 NA19063.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0016 a0002c0014 others(4): Show a0001c0002 a0001c0016 a0002c0014 a0002c0020 a0003c0001 a0005c0019 a0005c0056	a0001c0002t0001 a0001c0002t0021 a0001c0016t0009 others(6): Show a0001c0002t0001 a0001c0002t0021 a0001c0016t0009 a0002c0014t0003 a0002c0020t0003 a0003c0001t0001 a0003c0001t0004 a0005c0019t0003 a0005c0056t0003	a0001c0002t0001g0081 a0001c0002t0001g0091 a0001c0002t0001g0114 others(12): Show a0001c0002t0001g0081 a0001c0002t0001g0091 a0001c0002t0001g0114 a0001c0002t0021g0243 a0001c0016t0009g0287 a0001c0016t0009g0290 a0002c0014t0003g0015 a0002c0014t0003g0083 a0002c0020t0003g0273 a0003c0001t0001g0140 a0003c0001t0001g0142 a0003c0001t0004g0266 a0005c0019t0003g0135 a0005c0019t0003g0271 a0005c0056t0003g0053	15	308	0.0487	20	c.678 others(37): Show c.6787+495_6787+514dupATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132588192	G G	GGTATGTA others(13): Show GGTATGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0258 a0003c0003t0001g0258	1	316	0.0032	20	c.162 others(39): Show c.1622-8654_1622-8635dupATACATACATACATACATAC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	13/19			chr3	TogoVar
ACAD8_chr11_134248568_134270855	134267823	C C	CCACACAC others(13): Show CCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02622.hp2 others(8): Show HG02109.hp2 HG02257.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0036	11	448	0.0246	20	c.28 others(31): Show c.2863_*2864insCACACACACACACACACACA	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding		1969		chr11	TogoVar
ACAD9_chr3_128874620_128918114	128887644	A A	AATAAATA others(13): Show AATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18906.hp1 HG02622.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0188 a0001c0003t0005g0189 a0001c0003t0005g0188 a0001c0003t0005g0189	2	372	0.0054	20	c.244 others(37): Show c.244+2901_244+2902insAATATATATATATATATATA	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACADL_chr2_210182923_210230447	210214467	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01081.hp1 others(49): Show HG00639.hp1 HG00733.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG02056.hp2 HG02129.hp1 HG02293.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG03130.hp1 HG03130.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18967.hp2 NA18983.hp2 NA18989.hp2 NA18993.hp2 NA19043.hp2 NA19070.hp1 NA19077.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0002g0116 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0089 a0002c0002t0001g0122 a0002c0002t0001g0175 a0003c0004t0001g0218 a0003c0004t0001g0238 a0004c0006t0001g0161	52	274	0.1898	20	c.536 others(37): Show c.536+1860_536+1879dupCTTTCTTTCTTTCTTTCTTT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADL_chr2_210182923_210230447	210214509	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	274	0.0037	20	c.536 others(37): Show c.536+1837_536+1838insCTTTTTCTTTCTTTCTTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADL_chr2_210182923_210230447	210214509	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	274	0.0037	20	c.536 others(37): Show c.536+1837_536+1838insCTCTTTCTTTCTTTCTTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADM_chr1_75719709_75768679	75736173	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp2 HG03516.hp1 HG01192.hp2 HG02258.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249	3	364	0.0082	20	c.468 others(37): Show c.468+1315_468+1334dupACACACACACACACACACAC	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75753795	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02451.hp1 HG01074.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0273 a0001c0001t0001g0285	2	364	0.0055	20	c.945 others(37): Show c.945+3268_945+3269insTTTTTTTTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADSB_chr10_123004006_123063290	123045171	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0157 a0003c0004t0006g0157	1	374	0.0027	20	c.900 others(35): Show c.900+687_900+688insATATATATATTTTTTTTTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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