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
ACAP2_chr3_195269745_195448020	195294608	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	324	0.0031	17	c.176 others(34): Show c.1765+110_1765+111insATATATATATATATATT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195294631	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02074.hp2 NA18747.hp2 others(2): Show HG02015.hp2 HG02074.hp2 NA18747.hp2 NA18951.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0015 a0001c0002t0004 a0001c0002t0015	a0001c0002t0004g0040 a0001c0002t0004g0049 a0001c0002t0004g0052 others(2): Show a0001c0002t0004g0040 a0001c0002t0004g0049 a0001c0002t0004g0052 a0001c0002t0004g0319 a0001c0002t0015g0038	5	324	0.0154	17	c.176 others(32): Show c.1765+87_1765+88insATATATATATATATATA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195367752	G G	GCCAAATG others(10): Show GCCAAATGTAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show HG00438.hp2 HG00558.hp2 HG00673.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18974.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19078.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0025 a0001c0002t0035	a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(35): Show a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0205 a0001c0002t0004g0319 a0001c0002t0015g0029 a0001c0002t0015g0038 a0001c0002t0015g0039 a0001c0002t0025g0037 a0001c0002t0035g0058	38	324	0.1173	17	c.285 others(36): Show c.285+13240_285+13256dupTCTCTCTCTACATTTGG	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1289464	C C	CCCCGTCC others(10): Show CCCCGTCCCGTGTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	295	0.0034	17	c.40 others(28): Show c.4099_*4100insCAGAGACACGGGACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2926		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290183	C C	CCCGTGTC others(10): Show CCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	295	0.0034	17	c.33 others(28): Show c.3380_*3381insACGGAGCAGAGACACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2207		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02922.hp1 HG02559.hp2 HG02717.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0007 a0001c0001t0001 a0001c0001t0004 a0002c0002t0007	a0001c0001t0001g0045 a0001c0001t0004g0321 a0002c0002t0007g0055 a0001c0001t0001g0045 a0001c0001t0004g0321 a0002c0002t0007g0055	3	386	0.0078	17	c.73- others(30): Show c.73-551_73-535dupTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD3_chr1_226139679_226191741	226172155	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19055.hp2 HG03704.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0346 a0001c0001t0001g0333 a0001c0001t0001g0346	2	396	0.0051	17	c.287 others(34): Show c.287-6156_287-6155insTTTTTTTTTTTTTTTTT	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7			chr1	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	384	0.0026	17	c.375 others(34): Show c.375+2932_375+2933insATATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG01192.hp2 others(1): Show HG00738.hp2 HG01175.hp2 HG01192.hp2 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0226 a0001c0002t0001g0300 a0001c0002t0011g0224 others(1): Show a0001c0002t0001g0226 a0001c0002t0001g0300 a0001c0002t0011g0224 a0001c0002t0011g0225	4	384	0.0104	17	c.375 others(34): Show c.375+2932_375+2933insAAAAATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03239.hp2 NA18939.hp2 others(2): Show HG01106.hp2 HG03239.hp2 NA18939.hp2 NA18950.hp1 NA18961.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0001 a0004c0007t0001 a0001c0002t0001 a0004c0007t0001	a0001c0002t0001g0222 a0001c0002t0001g0277 a0001c0002t0001g0278 others(2): Show a0001c0002t0001g0222 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0004c0007t0001g0276	5	384	0.0130	17	c.375 others(34): Show c.375+2932_375+2933insAAAAAAATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01981.hp1 others(9): Show HG00140.hp1 HG00609.hp1 HG01981.hp1 HG02300.hp2 HG02523.hp1 HG02735.hp1 HG06807.hp2 NA18944.hp1 NA18967.hp1 NA19062.hp2 NA19082.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0012 a0004c0007 a0001c0002 a0002c0012 a0004c0007	a0001c0002t0001 a0001c0002t0013 a0002c0012t0001 others(1): Show a0001c0002t0001 a0001c0002t0013 a0002c0012t0001 a0004c0007t0001	a0001c0002t0001g0010 a0001c0002t0001g0228 a0001c0002t0001g0258 others(8): Show a0001c0002t0001g0010 a0001c0002t0001g0228 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0293 a0001c0002t0001g0296 a0001c0002t0001g0301 a0001c0002t0013g0257 a0002c0012t0001g0261 a0004c0007t0001g0302	12	384	0.0313	17	c.375 others(34): Show c.375+2932_375+2933insAAAAAAAAATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG04115.hp1 NA18747.hp1 others(2): Show HG02293.hp2 HG04115.hp1 NA18747.hp1 NA19058.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0245 a0001c0002t0001g0291 others(2): Show a0001c0002t0001g0230 a0001c0002t0001g0245 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0306	5	384	0.0130	17	c.375 others(34): Show c.375+2932_375+2933insAAAAAAAAAAATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	384	0.0026	17	c.375 others(34): Show c.375+2932_375+2933insAAAAAAAAAAAAAAATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228816	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03669.hp2 NA20905.hp2 HG02293.hp1 HG03669.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0094 a0001c0001t0002g0097 a0002c0004t0001g0199 a0001c0001t0002g0094 a0001c0001t0002g0097 a0002c0004t0001g0199	3	384	0.0078	17	c.375 others(34): Show c.375+2931_375+2932insTATATATATATATATAT	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACER3_chr11_76855918_77031797	76875107	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0122 a0002c0002t0122	a0002c0002t0122g0010 a0002c0002t0122g0010	1	346	0.0029	17	c.103 others(36): Show c.103+14038_103+14054dupTTTTTTTTTTTTTTTTT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76938790	C C	CTGGGAGC others(10): Show CTGGGAGCAATGACGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	346	0.0029	17	c.214 others(36): Show c.214+12125_214+12141dupGGGAGCAATGACGGCTT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TATATTAT others(10): Show TATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	346	0.0029	17	c.497 others(34): Show c.497+7163_497+7164insTATATATATATACATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005982	T T	TATATTAT others(10): Show TATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02630.hp1 HG01074.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0195 a0001c0001t0017g0198 a0001c0001t0017g0195 a0001c0001t0017g0198	2	346	0.0058	17	c.497 others(34): Show c.497+7165_497+7166insTATATATATATACATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR3_chr2_236564825_236587354	236566722	T T	TCCCTTCC others(10): Show TCCCTTCCCTTCCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	394	0.0025	17	c.-32 others(28): Show c.-3229_-3228insCCCTTCCCTTCCCTTCC	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3102		chr2	TogoVar
ACKR3_chr2_236564825_236587354	236567876	C C	CGTGGGTG others(10): Show CGTGGGTGCGGGCCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	394	0.0025	17	c.-20 others(28): Show c.-2075_-2074insGTGGGTGCGGGCCGTGG	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		1948		chr2	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18986.hp1 HG04228.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0001g0125 a0001c0001t0001g0148	2	294	0.0068	17	c.226 others(34): Show c.2266-740_2266-724dupTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41889524	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp1 NA18522.hp2 HG02280.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030	3	294	0.0102	17	c.177 others(36): Show c.1771-1838_1771-1822dupTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	16/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41904326	A A	AGGAAGGG others(10): Show AGGAAGGGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0238 a0001c0003t0004g0239 a0001c0003t0004g0238 a0001c0003t0004g0239	2	294	0.0068	17	c.106 others(34): Show c.1065+386_1065+402dupCTTCCTTCTTCCCTTCC	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	10/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp2 HG03704.hp2 others(4): Show HG03041.hp2 HG03471.hp2 HG03704.hp2 NA18947.hp2 NA18972.hp1 NA18974.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036	7	382	0.0183	17	c.57+ others(32): Show c.57+1438_57+1454dupAAAAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134845555	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	382	0.0026	17	c.102 others(32): Show c.102+278_102+279insTCTCTCTCTCTCTCTCT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	2/9			chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG03471.hp1 others(2): Show HG02109.hp2 HG02717.hp2 HG03471.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0005t0001g0015	5	434	0.0115	17	c.-43 others(28): Show c.-4302_-4301insAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT11_chr1_54543228_54615329	54571071	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG03139.hp2 others(1): Show HG02572.hp1 HG02723.hp2 HG03139.hp2 HG03516.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0006 a0002c0012t0006	a0002c0012t0006g0074 a0002c0012t0006g0195 a0002c0012t0006g0196 others(1): Show a0002c0012t0006g0074 a0002c0012t0006g0195 a0002c0012t0006g0196 a0002c0012t0006g0197	4	388	0.0103	17	c.34- others(34): Show c.34-13583_34-13582insCTCTCTCTCTCTCTCTT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT9_chrX_23696055_23748276	23742236	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18965.hp1 HG02717.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0066 a0001c0001t0019g0140 a0001c0001t0006g0066 a0001c0001t0019g0140	2	309	0.0065	17	c.20+ others(30): Show c.20+888_20+889insTCTCTCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG03491.hp1 others(3): Show HG01891.hp2 HG02809.hp1 HG03491.hp1 HG03710.hp1 NA18959.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0059 a0001c0001t0002 a0001c0001t0003 a0001c0001t0059	a0001c0001t0002g0051 a0001c0001t0002g0068 a0001c0001t0002g0112 others(3): Show a0001c0001t0002g0051 a0001c0001t0002g0068 a0001c0001t0002g0112 a0001c0001t0003g0077 a0001c0001t0003g0155 a0001c0001t0059g0073	6	344	0.0174	17	c.270 others(34): Show c.270-8077_270-8061dupTTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75970184	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01123.hp1 others(21): Show HG00140.hp1 HG00609.hp1 HG01123.hp1 HG01168.hp1 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02572.hp2 HG03041.hp1 HG03453.hp1 HG04228.hp1 NA18956.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18981.hp2 NA18986.hp1 NA18987.hp1 NA18992.hp2 NA19002.hp1 NA19057.hp2 NA19085.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0058 a0001c0001t0059 a0001c0004t0008 a0002c0002t0069	a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0064 others(21): Show a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0003g0060 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0104 a0001c0001t0005g0152 a0001c0001t0007g0082 a0001c0001t0018g0084 a0001c0001t0018g0117 a0001c0001t0058g0119 a0001c0001t0059g0073 a0001c0004t0008g0133 a0002c0002t0069g0086	24	344	0.0698	17	c.269 others(34): Show c.269+8333_269+8349dupTTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX3_chr4_8361282_8445723	8377914	G G	GACACATC others(10): Show GACACATCCGGGAGCCCC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	380	0.0026	17	c.165 others(36): Show c.1654-2779_1654-2763dupGGGGCTCCCGGATGTGT	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	14/17			chr4	TogoVar
ACOXL_chr2_110727573_111123548	110943040	G G	GAAGGAAG others(10): Show GAAGGAAGGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00673.hp1 others(25): Show HG00423.hp1 HG00423.hp2 HG00673.hp1 HG00673.hp2 HG01175.hp2 HG01255.hp2 HG01928.hp1 HG02027.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02897.hp2 HG03831.hp1 NA18612.hp2 NA18906.hp2 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18974.hp1 NA18993.hp2 NA18998.hp2 NA19002.hp1 NA19011.hp2 NA19062.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(4): Show a0000 a0001 a0002 a0003 a0005 a0006 a0008	a0000c0014 a0001c0001 a0002c0002 others(4): Show a0000c0014 a0001c0001 a0002c0002 a0003c0004 a0005c0007 a0006c0006 a0008c0008	a0000c0014t0001 a0001c0001t0001 a0001c0001t0002 others(12): Show a0000c0014t0001 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0004t0001 a0003c0004t0002 a0005c0007t0001 a0005c0007t0002 a0005c0007t0004 a0006c0006t0001 a0008c0008t0001	a0000c0014t0001g0072 a0001c0001t0001g0029 a0001c0001t0001g0038 others(25): Show a0000c0014t0001g0072 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0006g0017 a0002c0002t0001g0023 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0099 a0002c0002t0002g0059 a0002c0002t0003g0139 a0002c0002t0003g0142 a0002c0002t0004g0141 a0003c0004t0001g0027 a0003c0004t0001g0093 a0003c0004t0002g0079 a0003c0004t0002g0098 a0005c0007t0001g0062 a0005c0007t0002g0050 a0005c0007t0004g0144 a0006c0006t0001g0001 a0008c0008t0001g0015 a0008c0008t0001g0016	28	150	0.1867	17	c.105 others(36): Show c.1059+9406_1059+9422dupGAAGAAAGAAAAGGAAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP2_chr11_47234302_47253814	47245885	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	358	0.0028	17	c.298 others(30): Show c.298-52_298-51insCACACACACACACACAC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	3/10			chr11	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04115.hp1 HG01099.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0302 a0001c0001t0001g0290 a0001c0001t0001g0302	2	368	0.0054	17	c.121 others(34): Show c.121-2672_121-2671insCACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9			chr3	TogoVar
ACP3_chr3_132312407_132363841	132347872	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0148 a0001c0002t0004g0148	1	368	0.0027	17	c.782 others(34): Show c.782-2048_782-2047insACACACACACACACACA	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9			chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02257.hp2 HG02486.hp2 others(7): Show HG01070.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 NA19056.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0032 a0003c0002t0001g0008 a0001c0001t0001g0032 a0003c0002t0001g0008	10	444	0.0225	17	c.735 others(32): Show c.735+220_735+236dupTTTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACRV1_chr11_125666522_125685847	125678974	C C	CATTATAT others(10): Show CATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0055	1	426	0.0024	17	c.53- others(30): Show c.53-678_53-677insATATATATATATATAAT	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACRV1_chr11_125666522_125685847	125679217	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp2 NA20300.hp1 HG02257.hp2 HG03209.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0115 a0001c0001t0001g0042 a0001c0001t0001g0115	3	426	0.0070	17	c.53- others(30): Show c.53-921_53-920insCAAAAAAAAAAAAAAAA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSBG2_chr19_6130667_6198091	6184856	A A	AAACAAAA others(10): Show AAACAAAACAAAACAAAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18975.hp2 NA18983.hp2 others(3): Show NA18973.hp2 NA18975.hp2 NA18983.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0241 a0003c0005t0001g0242 others(2): Show a0003c0005t0001g0001 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244	6	262	0.0229	17	c.132 others(34): Show c.1323-578_1323-577insCAAAACAAAACAAACAA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSF3_chr16_89088852_89161233	89143813	C C	CTGGGCAC others(10): Show CTGGGCACACCCATCCGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0153 a0002c0002t0006g0153	1	368	0.0027	17	c.136 others(36): Show c.1367-1453_1367-1437dupTGGGCACACCCATCCGT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147522	A A	AGGCGGGG others(10): Show AGGCGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0095 a0002c0003t0004g0095	1	368	0.0027	17	c.161 others(36): Show c.1613+1474_1613+1475insGCGGGGGGGGGGGGGGG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147524	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19065.hp2 NA19010.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0212 a0002c0002t0006g0224 a0002c0002t0006g0212 a0002c0002t0006g0224	2	368	0.0054	17	c.161 others(36): Show c.1613+1487_1613+1488insGGGGGGGGGGGGGGGGG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL1_chr4_184750595_184830968	184826087	C C	CCGGCCCC others(10): Show CCGGCCCCCGCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA19078.hp1 NA18967.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0030 a0001c0001t0001g0019 a0001c0001t0002g0030	2	392	0.0051	17	c.-20 others(26): Show c.-205_-204insCGGGAGGGCGGGGGCCG	ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding		120		chr4	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	364	0.0028	17	c.159 others(34): Show c.1593+780_1593+781insTATATATATATATATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0245 a0001c0003t0001g0245	1	318	0.0031	17	c.612 others(32): Show c.612-801_612-800insATTTTTTTTTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0120 a0001c0003t0001g0120	1	318	0.0031	17	c.612 others(32): Show c.612-801_612-800insATATATTTTTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	318	0.0031	17	c.612 others(32): Show c.612-801_612-800insATATATATATTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTCTTC others(10): Show CTCTCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0043 a0001c0001t0015g0043	1	290	0.0035	17	c.135 others(36): Show c.1355-2941_1355-2940insCTTCTTTCTTTCTTTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213982	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	290	0.0035	17	c.135 others(36): Show c.1355-2918_1355-2902dupCTTTCTTTCTTTCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTB_chr7_5522148_5535601	5530525	T T	TGGCGGCG others(10): Show TGGCGGCGGGTGTGGACG	splice_region_variant splice_region_variant	LOW	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0025 a0001c0001t0015g0025	2	370	0.0054	17	c.-25 others(23): Show c.-25_-9dupCGTCCACACCCGCCGCC	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	1/6			chr7	TogoVar

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