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
ACACA_chr17_37079992_37411836	37173982	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0125 a0001c0004t0005g0125	1	299	0.0033	32	c.507 others(51): Show c.5079+5246_5079+5277dupTATATATATATATATATATATATATA TATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268733	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	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	32	c.111 others(51): Show c.1119+2017_1119+2018insTATATATATATATATATATATATATA TATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00609.hp1 others(8): Show HG00408.hp1 HG00408.hp2 HG00609.hp1 HG01496.hp2 HG02683.hp2 HG03471.hp2 HG04228.hp1 NA18979.hp2 NA19076.hp2 NA19078.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0015g0271 others(8): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0015g0271 a0001c0001t0016g0235 a0001c0001t0017g0001 a0001c0002t0001g0104 a0001c0002t0001g0229 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0003t0001g0220 a0001c0003t0006g0231	11	299	0.0368	32	c.38+ others(49): Show c.38+15931_38+15932insGATATATATATATATATATATATATATA TATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATCTATATC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	299	0.0033	32	c.38+ others(49): Show c.38+15931_38+15932insGATATAGATATATATATATATATATATA TATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0006 a0005c0009t0006	a0005c0009t0006g0177 a0005c0009t0006g0177	1	308	0.0033	32	c.787 others(47): Show c.787-273_787-242dupATATATATATATATATATATATATATATAT AT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109209912	C C	CGTGTGTA others(25): Show CGTGTGTATATATGTGTATACACACACACACGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0003 a0002c0097t0003	a0002c0097t0003g0124 a0002c0097t0003g0124	1	308	0.0033	32	c.324 others(49): Show c.3249+584_3249+585insCACACGTGTGTGTATATATGTGTATACA CACA	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(25): Show CGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0211 a0001c0034t0001g0211	1	308	0.0033	32	c.356 others(49): Show c.3565-191_3565-190insGTGAGTGAGTGAGTGAGTGAGTGAGTGA GTGA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	24/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0002 a0013c0033t0002	a0013c0033t0002g0185 a0013c0033t0002g0189 a0013c0033t0002g0185 a0013c0033t0002g0189	2	308	0.0065	32	c.678 others(49): Show c.6787+483_6787+514dupATATATATATATATATATATATATATAT ATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACADL_chr2_210182923_210230447	210214467	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01192.hp1 others(11): Show HG00733.hp2 HG00741.hp2 HG01192.hp1 HG02258.hp1 HG02965.hp1 HG03471.hp2 NA18952.hp2 NA18957.hp1 NA18964.hp2 NA18986.hp1 NA19067.hp1 NA19067.hp2 NA19085.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0190 a0002c0002t0001g0045 a0002c0002t0001g0147	14	274	0.0511	32	c.536 others(49): Show c.536+1848_536+1879dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADM_chr1_75719709_75768679	75760544	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	364	0.0028	32	c.946 others(47): Show c.946-573_946-542dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288086	C C	CAGGGGGT others(25): Show CAGGGGGTGTGGGGGCAGGTGAGGCTGGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02897.hp2 HG02622.hp2 HG02886.hp1 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0211 a0003c0004t0001g0215 a0003c0004t0001g0216	3	295	0.0102	32	c.54 others(43): Show c.5477_*5478insCCAGCCCAGCCTCACCTGCCCCCACACCCCCT	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4304		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288227	C C	CTGCTCCG others(25): Show CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02698.hp1 HG03490.hp2 others(4): Show HG02055.hp2 HG02698.hp1 HG03490.hp2 HG03492.hp1 NA18967.hp2 NA18970.hp1 NA19009.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0017 a0001c0002 a0007c0017	a0001c0002t0001 a0001c0002t0006 a0007c0017t0001 a0001c0002t0001 a0001c0002t0006 a0007c0017t0001	a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0086 others(4): Show a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0006g0096 a0007c0017t0001g0083	7	295	0.0237	32	c.53 others(43): Show c.5336_*5337insCACGGGACGGAGCAGGGACACGGGACGGAGCA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4163		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289497	C C	CTCTGCTC others(25): Show CTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	295	0.0034	32	c.40 others(43): Show c.4066_*4067insCACGGGACGGAGCAGACACGGGACGGAGCAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2893		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCT others(25): Show CCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	295	0.0034	32	c.36 others(43): Show c.3635_*3636insACGGGGCAGAGACACGGGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2462		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01169.hp2 HG01515.hp2 others(7): Show HG00735.hp2 HG01169.hp2 HG01515.hp2 HG02135.hp1 HG03195.hp1 NA18906.hp1 NA18977.hp1 NA18984.hp1 NA19004.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0133 a0001c0001t0001g0134 others(7): Show a0001c0001t0001g0077 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0152	10	386	0.0259	32	c.73- others(45): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD7_chr10_15070475_15093776	15078783	G G	GAACCCAA others(25): Show GAACCCAACCCCCCCCCCCCCCCCCCCCCCCAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0066 a0001c0001t0026g0066	1	426	0.0024	32	c.131 others(45): Show c.131-31_131-30insTTGGGGGGGGGGGGGGGGGGGGGGGTTGGGTT	ACBD7	ENSG00000176244.7	transcript	ENST00000356189.6	protein_coding	2/3			chr10	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CCCTTTCT others(25): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0213 a0003c0002t0002g0213	1	438	0.0023	32	c.489 others(45): Show c.489+53_489+54insCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14			chr11	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01192.hp2 others(20): Show HG00673.hp2 HG00741.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01978.hp2 HG02135.hp2 HG02145.hp2 HG02300.hp1 HG02809.hp2 HG02895.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03831.hp1 NA18944.hp1 NA18957.hp1 NA18968.hp2 NA18977.hp2 NA18990.hp1 NA19010.hp2 NA19090.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0004 a0003c0002 others(1): Show a0001c0001 a0002c0004 a0003c0002 a0006c0007	a0001c0001t0002 a0001c0001t0004 a0002c0004t0001 others(4): Show a0001c0001t0002 a0001c0001t0004 a0002c0004t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0006c0007t0001	a0001c0001t0002g0156 a0001c0001t0004g0036 a0002c0004t0001g0047 others(13): Show a0001c0001t0002g0156 a0001c0001t0004g0036 a0002c0004t0001g0047 a0002c0004t0001g0049 a0002c0004t0001g0082 a0002c0004t0001g0143 a0002c0004t0001g0252 a0002c0004t0001g0274 a0003c0002t0001g0008 a0003c0002t0001g0211 a0003c0002t0002g0008 a0003c0002t0002g0222 a0003c0002t0002g0230 a0003c0002t0003g0281 a0006c0007t0001g0086 a0006c0007t0001g0109	23	438	0.0525	32	c.489 others(45): Show c.489+63_489+94dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074738	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0097 a0004c0005t0001g0097	1	438	0.0023	32	c.489 others(45): Show c.489+86_489+87insTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACE2_chrX_15556033_15605960	15593391	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02965.hp1 others(3): Show HG02451.hp1 HG02723.hp1 HG02965.hp1 HG03209.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0006t0001g0042	6	264	0.0227	32	c.346 others(49): Show c.346-1070_346-1069insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	2/17			chrX	TogoVar
ACER2_chr9_19404009_19457505	19427652	C C	CTTCTCTT others(25): Show CTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02615.hp1 others(7): Show HG02055.hp1 HG02145.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03453.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0003t0005 a0001c0001t0001 a0001c0001t0009 a0001c0003t0005	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0009g0005 others(5): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0009g0005 a0001c0001t0009g0119 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0003t0005g0079 a0001c0003t0005g0117	10	358	0.0279	32	c.365 others(49): Show c.365+2828_365+2829insCTCTTCTCTTCTCTTTTCTCTTCTCTTC TCTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACIN1_chr14_23053564_23100136	23061971	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0234 a0001c0007t0002g0234	1	350	0.0029	32	c.309 others(49): Show c.3099+196_3099+197insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	16/18			chr14	TogoVar
ACKR3_chr2_236564825_236587354	236566718	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA19063.hp2 HG02109.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0083 a0001c0001t0001g0098	2	394	0.0051	32	c.-32 others(43): Show c.-3233_-3232insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3106		chr2	TogoVar
ACLY_chr17_41861918_41923951	41882367	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	294	0.0034	32	c.226 others(49): Show c.2265+754_2265+755insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41920966	T T	TCAGGAGA others(25): Show TCAGGAGAATCGCTTGAACCCAGGAGGCGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	294	0.0034	32	c.-21 others(43): Show c.-2142_-2111dupCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTG	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding		2016		chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	382	0.0026	32	c.-38 others(43): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	382	0.0026	32	c.-38 others(43): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG04204.hp1 NA18949.hp1 others(3): Show HG01074.hp2 HG04204.hp1 NA18949.hp1 NA18951.hp1 NA19000.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0140 a0001c0001t0001g0168 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0140 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0241 a0001c0001t0001g0278	6	382	0.0157	32	c.-38 others(43): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAAAGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	382	0.0026	32	c.-38 others(43): Show c.-3832_-3831insGGAGGGAGGGAGGGAAAGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAAAGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	382	0.0026	32	c.-38 others(43): Show c.-3832_-3831insGGAGGGAGGGAGGGAGGGAAAGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	382	0.0026	32	c.-38 others(43): Show c.-3832_-3831insGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134885369	T T	TTATATAT others(25): Show TTATATATAAATATATATTATATATATTACATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0365 a0001c0001t0001g0366	2	382	0.0052	32	c.849 others(51): Show c.849+12737_849+12738insATATATATTATATATATTACATATAT ATATAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134895328	T T	TTACATAT others(25): Show TTACATATATAATATATATATATATGTTATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp1 HG01496.hp2 others(9): Show HG00673.hp2 HG01496.hp1 HG01496.hp2 HG02109.hp1 HG02257.hp2 HG02572.hp1 HG02647.hp2 HG03516.hp2 HG06807.hp2 NA18978.hp1 NA19043.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0001g0135 a0001c0001t0001g0221 a0001c0004t0001g0147 a0001c0004t0001g0190 a0001c0004t0001g0191	12	382	0.0314	32	c.850 others(49): Show c.850-3011_850-3010insCATATATAATATATATATATATGTTATA TATA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134895328	T T	TTACATAT others(25): Show TTACATATATAATATATATATATGTTATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0173 a0004c0005t0001g0173	1	382	0.0026	32	c.850 others(49): Show c.850-3011_850-3010insCATATATAATATATATATATGTTATATA TATA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACO1_chr9_32379643_32459769	32459099	G G	GTGGTGAC others(25): Show GTGGTGACTCTGACCCGATTGCCCGATGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0115 a0001c0002t0068g0115	1	382	0.0026	32	c.89 others(43): Show c.8988_*8989insTGGTGACTCTGACCCGATTGCCCGATGTTGCC	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding		4331		chr9	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp2 NA18947.hp1 HG01993.hp1 HG01993.hp2 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0004 a0001c0002t0001g0005	3	434	0.0069	32	c.-43 others(43): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT9_chrX_23696055_23748276	23742209	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0062 a0001c0001t0021g0062	1	309	0.0032	32	c.20+ others(45): Show c.20+915_20+916insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742256	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0093 a0001c0001t0015g0093	1	309	0.0032	32	c.20+ others(45): Show c.20+868_20+869insATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX3_chr4_8361282_8445723	8373457	A A	ACTAAGGC others(25): Show ACTAAGGCGGTGCGTGTCGGCTCATGGGTGACG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02257.hp2 others(2): Show HG00642.hp2 HG01891.hp1 HG02257.hp2 HG02451.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0021 a0001c0001 a0001c0003 a0001c0021	a0001c0001t0007 a0001c0001t0009 a0001c0003t0007 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0003t0007 a0001c0021t0001	a0001c0001t0007g0025 a0001c0001t0007g0087 a0001c0001t0009g0362 others(2): Show a0001c0001t0007g0025 a0001c0001t0007g0087 a0001c0001t0009g0362 a0001c0003t0007g0266 a0001c0021t0001g0259	5	380	0.0132	32	c.189 others(49): Show c.1896+103_1896+104insCGTCACCCATGAGCCGACACGCACCGCC TTAG	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	16/17			chr4	TogoVar
ACP2_chr11_47234302_47253814	47235676	T T	TTCTAAGA others(25): Show TTCTAAGATCCTGACCCTCTGTTCTGTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	358	0.0028	32	c.44 others(43): Show c.4408_*4439dupGAGAAGACAGAACAGAGGGTCAGGATCTTAGA	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding		3625		chr11	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02622.hp1 HG04184.hp1 HG01123.hp1 HG02622.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0022 a0001c0001t0001 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0123 a0001c0001t0021g0169 a0001c0001t0022g0166 a0001c0001t0001g0123 a0001c0001t0021g0169 a0001c0001t0022g0166	3	368	0.0082	32	c.121 others(49): Show c.121-2648_121-2647insACACACACACACACACACACACACACAC ACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132348999	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01081.hp1 others(15): Show HG00639.hp2 HG01069.hp1 HG01081.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp1 HG02129.hp1 HG02145.hp2 HG02280.hp2 HG02523.hp2 HG02976.hp1 HG03669.hp1 HG03710.hp2 NA18944.hp2 NA18957.hp2 NA18978.hp1 NA18988.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0018	a0001c0002t0003g0051 a0001c0002t0003g0057 a0001c0002t0003g0059 others(15): Show a0001c0002t0003g0051 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0002t0003g0095 a0001c0002t0003g0100 a0001c0002t0003g0278 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0004g0038 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0149 a0001c0002t0004g0257 a0001c0002t0004g0303 a0001c0002t0011g0043 a0001c0002t0011g0288 a0001c0002t0018g0143	18	368	0.0489	32	c.782 others(47): Show c.782-906_782-905insACACACACACACACACACACACACACACAC AC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACRV1_chr11_125666522_125685847	125678978	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	426	0.0024	32	c.53- others(45): Show c.53-682_53-681insTATATATATATATATATATATATATATATATA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSF3_chr16_89088852_89161233	89158287	G G	GTCTCACG others(25): Show GTCTCACGCCTGCATATGTCACATGTATGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0047 a0003c0008t0047	a0003c0008t0047g0012 a0003c0008t0047g0012	1	368	0.0027	32	c.40 others(43): Show c.4080_*4081insTCTCACGCCTGCATATGTCACATGTATGTGTA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		2055		chr16	TogoVar
ACSF3_chr16_89088852_89161233	89158290	T T	TCACGCCT others(25): Show TCACGCCTGCATGTCACATGTATGTGTATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG01123.hp1 others(26): Show HG00140.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG02145.hp2 HG02273.hp1 HG02280.hp1 HG02698.hp1 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 NA19030.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0005 a0002c0003 a0005c0009 a0001c0005 a0002c0003 a0005c0009	a0001c0005t0011 a0002c0003t0005 a0002c0003t0046 others(4): Show a0001c0005t0011 a0002c0003t0005 a0002c0003t0046 a0002c0003t0057 a0005c0009t0011 a0005c0009t0039 a0005c0009t0053	a0001c0005t0011g0323 a0002c0003t0005g0015 a0002c0003t0005g0016 others(26): Show a0001c0005t0011g0323 a0002c0003t0005g0015 a0002c0003t0005g0016 a0002c0003t0005g0022 a0002c0003t0005g0024 a0002c0003t0005g0026 a0002c0003t0005g0027 a0002c0003t0005g0028 a0002c0003t0005g0029 a0002c0003t0005g0030 a0002c0003t0005g0071 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0005g0082 a0002c0003t0005g0083 a0002c0003t0005g0087 a0002c0003t0005g0090 a0002c0003t0005g0091 a0002c0003t0005g0255 a0002c0003t0005g0358 a0002c0003t0046g0021 a0002c0003t0057g0116 a0005c0009t0011g0310 a0005c0009t0039g0032 a0005c0009t0053g0217	29	368	0.0788	32	c.40 others(43): Show c.4083_*4084insCACGCCTGCATGTCACATGTATGTGTATCTCA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		2058		chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	364	0.0028	32	c.159 others(49): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	364	0.0028	32	c.159 others(49): Show c.1593+781_1593+782insAAAATATATATATATATATATATATATA TATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	364	0.0028	32	c.159 others(49): Show c.1593+781_1593+782insAATATATATATATATATATATATATATA TATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	364	0.0028	32	c.159 others(49): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM2B_chr16_20531226_20581367	20566700	A A	ATATATAC others(25): Show ATATATACTATATATACTATATATAGTATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG02896.hp2 others(1): Show HG02257.hp1 HG02886.hp2 HG02896.hp2 HG03453.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 others(1): Show a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 a0008c0013t0002g0109	4	388	0.0103	32	c.-8- others(47): Show c.-8-1848_-8-1847insGTATATACTATATATAGTATATATAGTATA TA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar

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