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
ARID4B_chr1_235161902_235333179	235236833	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	272	0.0037	30	c.586 others(47): Show c.586-2342_586-2341insATATATATATATATATATATATATTTTT TT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236833	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	272	0.0037	30	c.586 others(47): Show c.586-2342_586-2341insATATATATATATATATATATATATATTT TT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255219	C C	CTATATAT others(23): Show CTATATATATATAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	272	0.0037	30	c.274 others(45): Show c.274+440_274+441insTCTCTCTCTCTCTCTCTCTATATATATATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255219	C C	CTATATAT others(23): Show CTATATATATATATAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0120 a0002c0003t0001g0120	1	272	0.0037	30	c.274 others(45): Show c.274+440_274+441insTCTCTCTCTCTCTCTCTATATATATATATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255219	C C	CTATATAT others(23): Show CTATATATATATATATAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	272	0.0037	30	c.274 others(45): Show c.274+440_274+441insTCTCTCTCTCTCTCTATATATATATATATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255263	A A	ATAGATAG others(23): Show ATAGATAGATAGATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG01361.hp2 others(19): Show HG00738.hp1 HG01256.hp1 HG01361.hp2 HG01952.hp2 HG01975.hp1 HG02300.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG06807.hp2 NA18946.hp1 NA18948.hp1 NA18973.hp2 NA18983.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA19003.hp2 NA19082.hp2 NA19089.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0022 others(19): Show a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0080 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0004g0038	22	272	0.0809	30	c.274 others(45): Show c.274+396_274+397insGATAGATAGATAGATAGATCTATCTATCTA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255263	A A	ATAGATAG others(23): Show ATAGATAGATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04228.hp1 HG02683.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0048 a0001c0002t0001g0049	2	272	0.0074	30	c.274 others(45): Show c.274+396_274+397insGATAGATAGATAGATAGATAGATCTATCTA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235296843	A A	AAGGGAGA others(23): Show AAGGGAGAGAAAGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02027.hp1 others(17): Show HG01243.hp2 HG01884.hp1 HG02027.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02976.hp1 HG03139.hp1 HG03471.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 NA18995.hp1 NA19057.hp2 NA19068.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0001t0001 a0001c0001t0005 a0001c0004t0001	a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 others(17): Show a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0005g0255 a0001c0004t0001g0158 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0187 a0001c0004t0001g0191 a0001c0004t0001g0254	20	272	0.0735	30	c.6+3 others(45): Show c.6+30070_6+30071insCTCCCTCCCTCCCTCCCTCTTTCTCTCCCT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23			chr1	TogoVar
ARID5B_chr10_61896699_62101944	62099312	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	242	0.0041	30	c.62 others(41): Show c.6282_*6283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding		2369		chr10	TogoVar
ARIH1_chr15_72469330_72607987	72534959	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18957.hp1 HG03209.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0104 a0001c0001t0027 a0001c0001t0104	a0001c0001t0027g0029 a0001c0001t0104g0146 a0001c0001t0027g0029 a0001c0001t0104g0146	2	262	0.0076	30	c.444 others(47): Show c.444-9850_444-9849insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARK2N_chr18_46169034_46271992	46259885	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01256.hp1 others(18): Show HG00099.hp2 HG00738.hp2 HG01256.hp1 HG01346.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02647.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03831.hp2 NA18941.hp1 NA18948.hp1 NA18964.hp1 NA18984.hp2 NA19012.hp1 NA19078.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0022 a0001c0001t0027	a0001c0001t0003g0046 a0001c0001t0003g0067 a0001c0001t0003g0087 others(18): Show a0001c0001t0003g0046 a0001c0001t0003g0067 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0003g0267 a0001c0001t0003g0276 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0022g0085 a0001c0001t0027g0043	21	320	0.0656	30	c.102 others(49): Show c.1026-3030_1026-3029insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18979.hp1 NA18997.hp1 others(4): Show HG02523.hp2 NA18979.hp1 NA18997.hp1 NA19007.hp1 NA19011.hp2 NA19075.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0092 a0001c0001t0001g0114 a0001c0001t0001g0014 a0001c0001t0001g0092 a0001c0001t0001g0114	7	400	0.0175	30	c.554 others(47): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL2BP_chr16_57240259_57258635	57257519	G G	GCTCGTCC others(23): Show GCTCGTCCCGTGCCCTGCCACCCCCTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	372	0.0027	30	c.52 others(41): Show c.5252_*5253insCTCGTCCCGTGCCCTGCCACCCCCTGGGGA	ARL2BP	ENSG00000102931.8	transcript	ENST00000219204.8	protein_coding		3885		chr16	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0060 a0001c0001t0013g0060	1	424	0.0024	30	c.4-3 others(43): Show c.4-3420_4-3419insAAAAAAAAAAAAAATATATATATATATATA	ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5			chr10	TogoVar
ARL5C_chr17_39151894_39171161	39163345	C C	CCTTTCTT others(23): Show CCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0341 a0002c0002t0002g0341	1	410	0.0024	30	c.108 others(45): Show c.108-488_108-487insAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19062.hp2 NA19054.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0129 a0001c0002t0002g0037 a0001c0002t0002g0129	2	434	0.0046	30	c.62 others(41): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18988.hp2 NA18950.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0131 a0001c0002t0002g0128 a0001c0002t0002g0131	2	434	0.0046	30	c.62 others(41): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	434	0.0023	30	c.62 others(41): Show c.6217_*6218insAAAAAAAAAAAAAAAAATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099575	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00621.hp2 others(28): Show HG00323.hp2 HG00544.hp1 HG00621.hp2 HG00642.hp1 HG01109.hp2 HG01515.hp2 HG01891.hp2 HG01952.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02129.hp1 HG02602.hp1 HG02698.hp2 HG03195.hp1 HG04184.hp2 NA18949.hp2 NA18956.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18989.hp1 NA18998.hp2 NA19004.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19081.hp1 NA19085.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0011c0014	a0001c0001t0004 a0001c0001t0026 a0001c0001t0058 others(5): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0058 a0001c0001t0080 a0001c0003t0076 a0002c0002t0004 a0002c0002t0051 a0011c0014t0026	a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0011 others(23): Show a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0034 a0001c0001t0004g0060 a0001c0001t0004g0068 a0001c0001t0004g0072 a0001c0001t0004g0077 a0001c0001t0004g0082 a0001c0001t0004g0091 a0001c0001t0026g0014 a0001c0001t0026g0080 a0001c0001t0058g0001 a0001c0001t0080g0142 a0001c0003t0076g0006 a0002c0002t0004g0003 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0035 a0002c0002t0004g0067 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0004g0073 a0002c0002t0004g0144 a0002c0002t0051g0064 a0011c0014t0026g0010	31	390	0.0795	30	c.10 others(41): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMH3_chr10_101840599_102061173	101935174	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01168.hp2 HG01256.hp1 others(7): Show HG00673.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG02080.hp2 HG02965.hp2 HG03927.hp2 NA18960.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0006g0260	10	262	0.0382	30	c.178 others(49): Show c.1781+4688_1781+4689insATATATATATATATATATATATATAT ATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ARNT2_chr15_80399382_80602933	80426058	C C	CGAAAAGA others(23): Show CGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01978.hp2 HG02717.hp1 others(3): Show HG01109.hp1 HG01978.hp2 HG02717.hp1 HG03098.hp1 HG03486.hp1 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0011 a0002c0008t0009	a0001c0001t0005g0263 a0001c0001t0008g0023 a0001c0001t0010g0192 others(3): Show a0001c0001t0005g0263 a0001c0001t0008g0023 a0001c0001t0010g0192 a0001c0002t0011g0262 a0001c0002t0011g0266 a0002c0008t0009g0265	6	268	0.0224	30	c.31+ others(47): Show c.31+21541_31+21542insAGAAAAGAAAAGAAAAGAAAAGAAAAGA AA	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARNT2_chr15_80399382_80602933	80433233	A A	ATTTATTT others(23): Show ATTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 NA19030.hp2 HG03453.hp2 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0017 a0002c0003t0009 a0001c0001t0001 a0001c0001t0017 a0002c0003t0009	a0001c0001t0001g0260 a0001c0001t0017g0054 a0002c0003t0009g0220 a0001c0001t0001g0260 a0001c0001t0017g0054 a0002c0003t0009g0220	3	268	0.0112	30	c.32- others(47): Show c.32-17608_32-17579dupATTTTATTTTATTTTATTTTATTTTATT TT	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA18612.hp1 NA19012.hp1 HG00597.hp1 NA18612.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0110	3	332	0.0090	30	c.-16 others(41): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARPC4_chr3_9788082_9812101	9809959	G G	GGGGCCGC others(23): Show GGGGCCGCGGGATCAGGGGCCCTGGGAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	446	0.0022	30	c.37 others(41): Show c.3744_*3745insGGGCCGCGGGATCAGGGGCCCTGGGAGGGC	ARPC4	ENSG00000241553.13	transcript	ENST00000397261.8	protein_coding		2859		chr3	TogoVar
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02965.hp2 others(2): Show HG01243.hp2 HG02559.hp2 HG02965.hp2 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0210 a0001c0002t0001g0050 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0210 a0001c0002t0001g0050 a0001c0002t0001g0059 a0001c0002t0001g0060	5	266	0.0188	30	c.-21 others(51): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAAGA GGAAGA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRB1_chr11_75255122_75356661	75275123	A A	ATTTATTT others(23): Show ATTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG02647.hp1 others(1): Show HG00735.hp2 HG01496.hp1 HG02647.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0014	a0001c0001t0001g0318 a0001c0001t0004g0302 a0001c0002t0002g0288 others(1): Show a0001c0001t0001g0318 a0001c0001t0004g0302 a0001c0002t0002g0288 a0001c0002t0014g0054	4	320	0.0125	30	c.777 others(45): Show c.777-942_777-913dupATAAAATAAAATAAAATAAAATAAAATAAA	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	10/15			chr11	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(23): Show CTACTACTACTACTACTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp1 HG01891.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0031 a0001c0003t0028 a0001c0003t0031	a0001c0003t0028g0348 a0001c0003t0031g0119 a0001c0003t0028g0348 a0001c0003t0031g0119	2	360	0.0056	30	c.114 others(49): Show c.1143-1743_1143-1742insTTATTATTATTATTAGTAGTAGTAGT AGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp1 HG04204.hp2 HG02145.hp1 HG03209.hp1 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 a0001c0003t0001 a0001c0003t0006 a0001c0003t0008	a0001c0003t0001g0344 a0001c0003t0006g0267 a0001c0003t0008g0116 a0001c0003t0001g0344 a0001c0003t0006g0267 a0001c0003t0008g0116	3	360	0.0083	30	c.114 others(49): Show c.1143-1743_1143-1742insTTATTATTATTAGTAGTAGTAGTAGT AGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTACTAATAATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03491.hp1 HG02615.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0015 a0001c0008t0008 a0001c0003t0015 a0001c0008t0008	a0001c0003t0015g0346 a0001c0008t0008g0118 a0001c0003t0015g0346 a0001c0008t0008g0118	2	360	0.0056	30	c.114 others(49): Show c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTAGTAGT AGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTACTACTAATAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0343 a0001c0003t0046g0343	1	360	0.0028	30	c.114 others(49): Show c.1143-1743_1143-1742insTTATTAGTAGTAGTAGTAGTAGTAGT AGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSG_chr17_68286495_68425814	68413447	C C	CTCATTAG others(23): Show CTCATTAGGTGCTTTCTCGGGTCAGGACCCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	304	0.0033	30	c.130 others(49): Show c.1304-6742_1304-6741insTCATTAGGTGCTTTCTCGGGTCAGGA CCCA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	11/11			chr17	TogoVar
ARSH_chrX_3001546_3039111	3035498	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18982.hp1 NA18990.hp1 NA18952.hp1 NA18982.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0091 a0001c0001t0001g0007 a0001c0001t0001g0091	3	248	0.0121	30	c.21 others(41): Show c.2113_*2114insTGTGTGTGTGTGTGTGTGGAGAGAGAGAGA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1388		chrX	TogoVar
AS3MT_chr10_102864470_102906899	102871727	C C	CAAACAAA others(23): Show CAAACAAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0026 a0001c0002t0023g0026	1	362	0.0028	30	c.171 others(45): Show c.171-718_171-689dupACAAAACAAAACAAAACAAAACAAAACAAA	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130072790	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02630.hp2 HG02723.hp1 HG00673.hp2 HG02630.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0192 a0001c0001t0011g0015 a0001c0001t0012g0298 a0001c0001t0002g0192 a0001c0001t0011g0015 a0001c0001t0012g0298	3	308	0.0097	30	c.270 others(49): Show c.2701+3557_2701+3558insACACACACACACACACACACACACAC ACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	308	0.0033	30	c.270 others(49): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCACACACACAC ACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02698.hp1 HG02615.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0011 a0001c0001t0019g0286 a0001c0001t0008g0011 a0001c0001t0019g0286	2	308	0.0065	30	c.270 others(49): Show c.2701+3523_2701+3524insGCACACACACACACACACACACACAC ACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGCGCGCGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0182 a0001c0004t0002g0182	1	308	0.0033	30	c.270 others(49): Show c.2701+3522_2701+3523insGGCGCGCGCACACACACACACACACA CACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03491.hp1 HG02293.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0163 a0001c0001t0001g0097 a0001c0001t0001g0163	2	308	0.0065	30	c.240 others(49): Show c.2402-9590_2402-9589insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(23): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	308	0.0033	30	c.187 others(49): Show c.187-39735_187-39734insAGAGAGAGAGAGAGAGAGAGAGAGTG TGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	308	0.0033	30	c.187 others(49): Show c.187-39767_187-39766insGGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACACA others(23): Show CACACACAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	308	0.0033	30	c.186 others(49): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTCTCTCTCTGT GTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0167 a0002c0001t0001g0167	1	210	0.0048	30	c.127 others(49): Show c.127-25080_127-25079insAAAAAATATATATATATATATATATA TATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	210	0.0048	30	c.127 others(49): Show c.127-25062_127-25061insTATATATATATATATATATACACACA CACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9270785	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	210	0.0048	30	c.127 others(47): Show c.127-8507_127-8506insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9389686	C C	CCCGAAGA others(23): Show CCCGAAGAACAAACCTGCTGAGAGCAGACCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0026 a0001c0002t0003g0026	1	210	0.0048	30	c.238 others(49): Show c.2383+1141_2383+1170dupCCGAAGAACAAACCTGCTGAGAGCAG ACCT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0047 a0001c0009t0004g0047	1	210	0.0048	30	c.268 others(49): Show c.2685-2272_2685-2271insATATATATATATATATATATTTTTTT TTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9400190	G G	GCCCTCCT others(23): Show GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0167 a0002c0001t0001g0167	1	210	0.0048	30	c.273 others(47): Show c.2734+148_2734+177dupCCCCTCCTGCCCCCTCCCCTCCTGCCCC CT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAAGA others(23): Show GGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19081.hp2 NA19090.hp2 NA18953.hp1 NA19081.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0247 a0001c0001t0003g0096 a0001c0001t0011g0354 a0001c0001t0002g0247 a0001c0001t0003g0096 a0001c0001t0011g0354	3	446	0.0067	30	c.43+ others(45): Show c.43+3914_43+3943dupTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAGAG others(23): Show GGAGAGAGGAGAAGAGAAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0263 a0001c0001t0013g0263	1	446	0.0022	30	c.43+ others(45): Show c.43+3943_43+3944insTTCTCTTCTCTTCTTCTCTTCTCCTCTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGGGGA others(23): Show GGAGGGGAGAACAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01106.hp1 others(5): Show HG00642.hp2 HG01069.hp2 HG01106.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0110 a0001c0001t0001g0414 a0001c0001t0002g0373 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0414 a0001c0001t0002g0373 a0001c0001t0002g0395 a0001c0001t0006g0372 a0001c0001t0006g0374 a0001c0001t0014g0412 a0001c0001t0014g0413	8	446	0.0179	30	c.43+ others(45): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCTTCTGTTCTCCCCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar

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