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
ADNP_chr20_50883918_50936437	50925263	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01884.hp1 others(15): Show HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02083.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03710.hp1 HG04228.hp2 NA19030.hp1 NA19068.hp1 NA19070.hp2 NA19084.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 others(9): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0002t0017 a0001c0002t0019 a0001c0002t0036 a0001c0002t0052 a0001c0002t0058 a0001c0002t0059 a0001c0002t0061 a0001c0003t0063	a0001c0001t0005g0342 a0001c0001t0006g0272 a0001c0001t0012g0343 others(15): Show a0001c0001t0005g0342 a0001c0001t0006g0272 a0001c0001t0012g0343 a0001c0001t0012g0344 a0001c0001t0012g0345 a0001c0001t0020g0273 a0001c0001t0020g0274 a0001c0002t0017g0018 a0001c0002t0017g0019 a0001c0002t0019g0059 a0001c0002t0019g0060 a0001c0002t0019g0065 a0001c0002t0036g0102 a0001c0002t0052g0039 a0001c0002t0058g0066 a0001c0002t0059g0067 a0001c0002t0061g0061 a0001c0003t0063g0095	18	358	0.0503	10	c.-90 others(27): Show c.-90+3378_-90+3387dupGTGTGTGTGT	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	2/5			chr20	TogoVar
ADORA1_chr1_203122726_203172405	203142921	C C	CTGGAGGT others(3): Show CTGGAGGTAAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0069 a0001c0002t0006g0069	1	408	0.0025	10	c.341 others(29): Show c.341+13739_341+13740insTGGAGGTAAG	ADORA1	ENSG00000163485.18	transcript	ENST00000337894.9	protein_coding	3/3			chr1	TogoVar
ADORA1_chr1_203122726_203172405	203144081	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(55): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01074.hp2 HG01099.hp1 HG01243.hp1 HG01346.hp1 HG01516.hp1 HG01943.hp1 HG02015.hp2 HG02055.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp2 HG02895.hp1 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19060.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19078.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0151 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0002g0028 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0286 a0001c0001t0002g0332 a0001c0001t0003g0002 a0001c0001t0004g0180 a0001c0001t0006g0276 a0001c0001t0021g0342 a0001c0002t0001g0053 a0001c0002t0001g0078 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0060 a0001c0002t0004g0061	58	408	0.1422	10	c.341 others(29): Show c.341+14931_341+14940dupCACACACACA	ADORA1	ENSG00000163485.18	transcript	ENST00000337894.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADORA2A_chr22_24422599_24447357	24439072	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	386	0.0026	10	c.333 others(27): Show c.333-1491_333-1482dupTTTTTTTTTT	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
ADORA2B_chr17_15940130_15980746	15976067	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	346	0.0029	10	c.72 others(19): Show c.725_*726insAAAAAAAAAA	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		322		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(3): Show AAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	346	0.0029	10	c.75 others(19): Show c.756_*757insAAAAAAAAAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(3): Show AAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	346	0.0029	10	c.75 others(19): Show c.756_*757insAAAAAAATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AATATATA others(3): Show AATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0030 a0001c0009t0001g0030	1	346	0.0029	10	c.75 others(19): Show c.756_*757insATATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15980319	T T	TGAGGAGA others(3): Show TGAGGAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	346	0.0029	10	c.49 others(21): Show c.4977_*4978insGAGGAGAGGG	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		4574		chr17	TogoVar
ADO_chr10_62799720_62813479	62804170	A A	ACAGCTGG others(3): Show ACAGCTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	426	0.0047	10	c.-89 others(19): Show c.-890_-889insCAGCTGGGCC	ADO	ENSG00000181915.6	transcript	ENST00000373783.3	protein_coding		549		chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113415750	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp1 HG01243.hp2 others(17): Show HG00673.hp2 HG01081.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02109.hp2 HG02148.hp2 HG02280.hp2 HG02486.hp1 HG02809.hp1 HG03098.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp2	a0002 a0011 a0026 others(4): Show a0002 a0011 a0026 a0028 a0034 a0035 a0039	a0002c0002 a0002c0024 a0011c0018 others(5): Show a0002c0002 a0002c0024 a0011c0018 a0026c0049 a0028c0039 a0034c0045 a0035c0046 a0039c0038	a0002c0002t0002 a0002c0002t0003 a0002c0002t0069 others(11): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0069 a0002c0002t0074 a0002c0002t0075 a0002c0002t0081 a0002c0002t0084 a0002c0024t0003 a0011c0018t0002 a0026c0049t0002 a0028c0039t0086 a0034c0045t0077 a0035c0046t0085 a0039c0038t0002	a0002c0002t0002g0103 a0002c0002t0002g0111 a0002c0002t0002g0205 others(17): Show a0002c0002t0002g0103 a0002c0002t0002g0111 a0002c0002t0002g0205 a0002c0002t0002g0224 a0002c0002t0003g0084 a0002c0002t0003g0147 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0069g0058 a0002c0002t0074g0120 a0002c0002t0075g0154 a0002c0002t0081g0172 a0002c0002t0084g0188 a0002c0024t0003g0175 a0011c0018t0002g0229 a0026c0049t0002g0083 a0028c0039t0086g0171 a0034c0045t0077g0059 a0035c0046t0085g0169 a0039c0038t0002g0050	20	262	0.0763	10	c.106 others(29): Show c.1061+7066_1061+7075dupTTTTTTTTTT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113415770	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA21309.hp1 HG01934.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0072 a0002c0002t0002 a0002c0002t0072	a0002c0002t0002g0092 a0002c0002t0072g0174 a0002c0002t0002g0092 a0002c0002t0072g0174	2	262	0.0076	10	c.106 others(29): Show c.1061+7055_1061+7056insCTTTTTTTTT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113448465	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0071 a0004c0005t0024g0071	1	262	0.0038	10	c.215 others(27): Show c.215-3886_215-3877dupTTTTTTTTTT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/7			chr13	TogoVar
ADPRH_chr3_119574492_119594945	119594589	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02109.hp1 HG01123.hp2 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0001 a0001c0003t0003g0062 a0001c0003t0001g0001 a0001c0003t0003g0062	2	454	0.0044	10	c.67 others(21): Show c.6711_*6712insAAAAAAAAAA	ADPRH	ENSG00000144843.12	transcript	ENST00000357003.8	protein_coding		4645		chr3	TogoVar
ADPRM_chr17_10692594_10716558	10699476	G G	GTTTATGT others(3): Show GTTTATGTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp1 HG02647.hp2 HG00741.hp1 HG02257.hp1 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0031 a0001c0005t0005g0083 a0001c0005t0005g0031 a0001c0005t0005g0083	3	402	0.0075	10	c.-18 others(27): Show c.-18+1810_-18+1819dupTTTATGTTTT	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADPRM_chr17_10692594_10716558	10708429	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	402	0.0025	10	c.718 others(27): Show c.718+1887_718+1896dupAAAAAAAAAA	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADPRM_chr17_10692594_10716558	10708450	A A	AAAAAAAA others(3): Show AAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19059.hp2 HG03098.hp2 NA19059.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0004 a0004c0004t0006 a0002c0002t0004 a0004c0004t0006	a0002c0002t0004g0078 a0004c0004t0006g0062 a0002c0002t0004g0078 a0004c0004t0006g0062	2	402	0.0050	10	c.718 others(27): Show c.718+1896_718+1897insAAAAAAAAAC	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	3/3			chr17	TogoVar
ADPRS_chr1_36083892_36098932	36084279	C C	CGGGACCG others(3): Show CGGGACCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	10	c.-46 others(21): Show c.-4626_-4625insGGGACCGGAG	ADPRS	ENSG00000116863.11	transcript	ENST00000373178.5	protein_coding		4612		chr1	TogoVar
ADRA1A_chr8_26763809_26872278	26772883	A A	ACACACAC others(3): Show ACACACACATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(80): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG01123.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02886.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03486.hp1 HG03490.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20905.hp2 NA21309.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0004 a0009c0007 a0001c0001 a0004c0004 a0009c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0034 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0004c0004t0003 a0009c0007t0021	a0001c0001t0002g0284 a0001c0001t0003g0007 a0001c0001t0003g0092 others(77): Show a0001c0001t0002g0284 a0001c0001t0003g0007 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0130 a0001c0001t0003g0136 a0001c0001t0003g0140 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0205 a0001c0001t0003g0213 a0001c0001t0003g0219 a0001c0001t0003g0366 a0001c0001t0005g0008 a0001c0001t0005g0010 a0001c0001t0005g0196 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0250 a0001c0001t0005g0255 a0001c0001t0005g0260 a0001c0001t0005g0263 a0001c0001t0005g0267 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0273 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0307 a0001c0001t0006g0019 a0001c0001t0006g0027 a0001c0001t0006g0029 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0063 a0001c0001t0006g0069 a0001c0001t0034g0072 a0001c0001t0040g0204 a0001c0001t0042g0370 a0001c0001t0043g0371 a0004c0004t0003g0080 a0004c0004t0003g0082 a0004c0004t0003g0086 a0009c0007t0021g0014	83	388	0.2139	10	c.884 others(27): Show c.884-2218_884-2217insCATGTGTGTG	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/2			chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26816533	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp2 HG03942.hp2 others(1): Show HG01255.hp2 HG01256.hp2 HG03942.hp2 HG04184.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0008 a0001c0001t0012 a0009c0007t0008 a0001c0001t0008 a0001c0001t0012 a0009c0007t0008	a0001c0001t0008g0128 a0001c0001t0008g0133 a0001c0001t0012g0254 others(1): Show a0001c0001t0008g0128 a0001c0001t0008g0133 a0001c0001t0012g0254 a0009c0007t0008g0075	4	388	0.0103	10	c.884 others(29): Show c.884-45877_884-45868dupCACACACACA	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/2			chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26819360	A A	AATATAAA others(3): Show AATATAAAACT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp1 others(56): Show HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG01243.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02523.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp2 NA18747.hp2 NA18943.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18985.hp1 NA18994.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19072.hp2 NA19077.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0010 a0001c0011 others(2): Show a0001c0001 a0001c0010 a0001c0011 a0001c0016 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0027 a0001c0001t0032 a0001c0001t0035 a0001c0001t0043 a0001c0010t0002 a0001c0011t0001 a0001c0016t0001 a0011c0019t0001	a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0114 others(55): Show a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0319 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0002g0242 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0294 a0001c0001t0003g0192 a0001c0001t0004g0023 a0001c0001t0004g0032 a0001c0001t0004g0039 a0001c0001t0004g0046 a0001c0001t0004g0051 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0005g0278 a0001c0001t0005g0305 a0001c0001t0014g0342 a0001c0001t0014g0345 a0001c0001t0027g0279 a0001c0001t0032g0199 a0001c0001t0035g0074 a0001c0001t0043g0371 a0001c0010t0002g0223 a0001c0011t0001g0347 a0001c0016t0001g0326 a0011c0019t0001g0215	59	388	0.1521	10	c.883 others(29): Show c.883+44717_883+44726dupAGTTTTATAT	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/2			chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26819363	A A	ATAAAACT others(3): Show ATAAAACTATG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	388	0.0026	10	c.883 others(29): Show c.883+44723_883+44724insCATAGTTTTA	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/2			chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26842866	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 NA21309.hp1 HG02257.hp2 HG02622.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0011 a0001c0001t0001 a0002c0002t0001 a0002c0002t0011	a0001c0001t0001g0341 a0002c0002t0001g0134 a0002c0002t0011g0357 a0001c0001t0001g0341 a0002c0002t0001g0134 a0002c0002t0011g0357	3	388	0.0077	10	c.883 others(29): Show c.883+21211_883+21220dupGTGTGTGTGT	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/2			chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26867439	T T	TGTGTGTG others(3): Show TGTGTGTGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG01167.hp2 others(3): Show HG00099.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG03490.hp2 HG03492.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001	a0001c0001t0003g0324 a0002c0002t0001g0013 a0003c0003t0001g0004 a0001c0001t0003g0324 a0002c0002t0001g0013 a0003c0003t0001g0004	6	388	0.0155	10	c.-11 others(21): Show c.-1191_-1190insGCGCACACAC	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding		162		chr8	TogoVar
ADRA1B_chr5_159911482_159978012	159927381	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00735.hp2 others(17): Show HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01943.hp2 HG02055.hp1 HG02523.hp2 HG02723.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03669.hp2 HG03831.hp1 NA18522.hp2 NA18992.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0065 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0002g0327 a0001c0001t0002g0362 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0075 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0003t0001g0373	20	384	0.0521	10	c.949 others(27): Show c.949+9551_949+9560dupACACACACAC	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159939252	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19066.hp2 NA18975.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0325 a0001c0001t0016g0330 a0001c0001t0002g0325 a0001c0001t0016g0330	2	384	0.0052	10	c.949 others(29): Show c.949+21416_949+21425dupAGAGAGAGAG	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159939316	T T	TGCGCGCG others(3): Show TGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	384	0.0026	10	c.949 others(29): Show c.949+21463_949+21464insCGCGCGCGCG	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159939318	T T	TGCGCGCG others(3): Show TGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	384	0.0026	10	c.949 others(29): Show c.949+21465_949+21466insCGCGCGCGCG	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159939320	T T	TGCGCGCG others(3): Show TGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01256.hp2 NA19066.hp2 others(1): Show HG00609.hp1 HG01256.hp2 NA19066.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0345 a0001c0001t0002g0358 others(1): Show a0001c0001t0002g0325 a0001c0001t0002g0345 a0001c0001t0002g0358 a0001c0001t0002g0360	4	384	0.0104	10	c.949 others(29): Show c.949+21467_949+21468insCGCGCGCGCG	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159939322	T T	TGCGCGCG others(3): Show TGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18960.hp2 NA18980.hp2 others(1): Show HG02027.hp2 NA18960.hp2 NA18980.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0006g0348 others(1): Show a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0006g0348 a0001c0002t0001g0168	4	384	0.0104	10	c.949 others(29): Show c.949+21473_949+21482dupGCGCGCGCGC	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159939322	T T	TGTGTGCG others(3): Show TGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0145 a0001c0004t0001g0145	1	384	0.0026	10	c.949 others(29): Show c.949+21469_949+21470insTGTGCGCGCG	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159963288	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02572.hp1 others(1): Show HG01884.hp2 HG02559.hp1 HG02572.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0228 a0001c0001t0001g0245 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0308	4	384	0.0104	10	c.950 others(27): Show c.950-8579_950-8570dupATATATATAT	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1D_chr20_4215630_4254287	4231064	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0321 a0002c0002t0008g0321	1	452	0.0022	10	c.111 others(29): Show c.1112-8935_1112-8934insGAAAGAAAGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4231066	C C	CTTTCTTT others(3): Show CTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18990.hp2 HG03486.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0006g0364 a0002c0002t0002g0273 a0001c0001t0006g0364 a0002c0002t0002g0273	2	452	0.0044	10	c.111 others(29): Show c.1112-8937_1112-8936insAAGAAAGAAA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRB1_chr10_114038866_114051904	114039460	T T	TTTTTCTT others(3): Show TTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02647.hp1 others(4): Show HG01109.hp1 HG02451.hp1 HG02647.hp1 HG02723.hp2 HG03834.hp1 HG04199.hp2 NA19083.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0003 a0003c0003t0008 a0002c0002t0002 a0002c0002t0003 a0003c0003t0008	a0002c0002t0002g0000 a0002c0002t0003g0000 a0003c0003t0008g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0003c0003t0008g0000	7	394	0.0178	10	c.-46 others(21): Show c.-4673_-4672insTTTTCTTTTC	ADRB1	ENSG00000043591.6	transcript	ENST00000369295.4	protein_coding		4405		chr10	TogoVar
ADSL_chr22_40341500_40374367	40345588	A A	AAAAAAAA others(3): Show AAAAAAAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	302	0.0033	10	c.-97 others(19): Show c.-971_-970insAAAAAAAGGG	ADSL	ENSG00000239900.14	transcript	ENST00000623063.3	protein_coding		911		chr22	TogoVar
ADSS1_chr14_104719229_104752310	104736881	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp1 HG01106.hp2 others(14): Show HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01496.hp1 HG02602.hp1 HG02976.hp1 NA18939.hp1 NA18942.hp1 NA18947.hp2 NA19004.hp1 NA19007.hp2 NA19043.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0061 others(11): Show a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0087 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0259 a0001c0003t0001g0042 a0001c0003t0001g0103 a0001c0003t0001g0251 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0281	17	402	0.0423	10	c.296 others(27): Show c.296-1472_296-1463dupATATATATAT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADSS2_chr1_244403494_244456909	244435194	A A	AAAAAAAA others(3): Show AAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	408	0.0025	10	c.355 others(27): Show c.355+1630_355+1631insGTTTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	3/12			chr1	TogoVar
ADSS2_chr1_244403494_244456909	244444514	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp2 HG01433.hp2 others(2): Show HG00733.hp1 HG01167.hp2 HG01433.hp2 HG02717.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252	5	408	0.0123	10	c.184 others(27): Show c.184-6756_184-6747dupTTTTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	1/12			chr1	TogoVar
ADTRP_chr6_11708523_11783803	11716719	C C	CTTTTTCT others(3): Show CTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02886.hp2 HG01975.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0142 a0001c0001t0001g0068 a0001c0001t0001g0142	2	410	0.0049	10	c.659 others(27): Show c.659-2208_659-2207insAAAAGAAAAA	ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	5/5			chr6	TogoVar
ADTRP_chr6_11708523_11783803	11725899	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18980.hp1 HG01361.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0361 a0001c0001t0002g0016 a0001c0001t0002g0361	2	410	0.0049	10	c.507 others(27): Show c.507-2409_507-2400dupTTTTTTTTTT	ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	4/5			chr6	TogoVar
AEBP2_chr12_19434492_19527227	19446100	A A	AATGGCTA others(3): Show AATGGCTATGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(107): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(16): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0046 a0001c0001t0048 a0001c0005t0023 a0001c0006t0033	a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0311 others(106): Show a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0350 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0361 a0001c0001t0003g0363 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0003g0370 a0001c0001t0003g0371 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0003g0375 a0001c0001t0003g0376 a0001c0001t0003g0378 a0001c0001t0003g0379 a0001c0001t0003g0380 a0001c0001t0003g0381 a0001c0001t0003g0383 a0001c0001t0003g0390 a0001c0001t0003g0397 a0001c0001t0003g0398 a0001c0001t0003g0399 a0001c0001t0004g0306 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0320 a0001c0001t0004g0385 a0001c0001t0004g0388 a0001c0001t0004g0396 a0001c0001t0007g0003 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0001t0007g0348 a0001c0001t0007g0386 a0001c0001t0007g0387 a0001c0001t0007g0389 a0001c0001t0007g0391 a0001c0001t0007g0392 a0001c0001t0007g0393 a0001c0001t0007g0394 a0001c0001t0007g0395 a0001c0001t0007g0400 a0001c0001t0008g0325 a0001c0001t0008g0327 a0001c0001t0008g0331 a0001c0001t0008g0332 a0001c0001t0008g0351 a0001c0001t0008g0360 a0001c0001t0008g0367 a0001c0001t0008g0372 a0001c0001t0008g0382 a0001c0001t0008g0384 a0001c0001t0011g0319 a0001c0001t0012g0324 a0001c0001t0012g0333 a0001c0001t0012g0335 a0001c0001t0012g0337 a0001c0001t0012g0362 a0001c0001t0012g0366 a0001c0001t0016g0035 a0001c0001t0016g0036 a0001c0001t0016g0038 a0001c0001t0016g0039 a0001c0001t0017g0042 a0001c0001t0017g0043 a0001c0001t0017g0044 a0001c0001t0019g0034 a0001c0001t0019g0037 a0001c0001t0019g0040 a0001c0001t0023g0309 a0001c0001t0026g0344 a0001c0001t0027g0352 a0001c0001t0028g0308 a0001c0001t0029g0326 a0001c0001t0030g0349 a0001c0001t0046g0032 a0001c0001t0048g0377 a0001c0005t0023g0033 a0001c0006t0033g0041	110	404	0.2723	10	c.671 others(27): Show c.671+5735_671+5736insTATGCATGGC	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AEBP2_chr12_19434492_19527227	19468126	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp1 HG01981.hp1 others(13): Show HG01106.hp2 HG01891.hp1 HG01981.hp1 HG02109.hp1 HG02145.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp2 HG03834.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18968.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0035	a0001c0001t0003g0312 a0001c0001t0003g0328 a0001c0001t0003g0341 others(13): Show a0001c0001t0003g0312 a0001c0001t0003g0328 a0001c0001t0003g0341 a0001c0001t0004g0274 a0001c0001t0004g0388 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0006g0005 a0001c0001t0007g0387 a0001c0001t0008g0384 a0001c0001t0013g0156 a0001c0001t0013g0158 a0001c0001t0013g0160 a0001c0001t0013g0161 a0001c0001t0035g0159	16	404	0.0396	10	c.880 others(27): Show c.880-5100_880-5091dupGTGTGTGTGT	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AEBP2_chr12_19434492_19527227	19475464	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show NA18953.hp2 NA18972.hp1 NA18982.hp1 NA18998.hp1 NA19004.hp2 NA19054.hp2 NA19066.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0046 a0001c0001t0016 a0001c0001t0019 a0001c0001t0046	a0001c0001t0016g0035 a0001c0001t0016g0036 a0001c0001t0016g0038 others(5): Show a0001c0001t0016g0035 a0001c0001t0016g0036 a0001c0001t0016g0038 a0001c0001t0016g0039 a0001c0001t0019g0034 a0001c0001t0019g0037 a0001c0001t0019g0040 a0001c0001t0046g0032	8	404	0.0198	10	c.987 others(27): Show c.987+2110_987+2111insGTATATATAT	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AEBP2_chr12_19434492_19527227	19495547	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0041 a0001c0006t0033g0041	1	404	0.0025	10	c.117 others(29): Show c.1174+1566_1174+1575dupTTTTTTTTTT	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AEBP2_chr12_19434492_19527227	19497328	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0283 a0001c0001t0004g0283	1	404	0.0025	10	c.117 others(29): Show c.1175-2754_1175-2745dupTTTTTTTTTT	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AEBP2_chr12_19434492_19527227	19510865	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp2 HG01106.hp1 others(42): Show HG00609.hp2 HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03927.hp1 NA18906.hp2 NA18942.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18966.hp1 NA18978.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18998.hp2 NA19006.hp1 NA19006.hp2 NA19056.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0035 a0001c0001t0041 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0044	a0001c0001t0001g0095 a0001c0001t0001g0244 a0001c0001t0001g0248 others(42): Show a0001c0001t0001g0095 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0133 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0141 a0001c0001t0005g0148 a0001c0001t0005g0150 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0236 a0001c0001t0005g0257 a0001c0001t0006g0022 a0001c0001t0013g0156 a0001c0001t0013g0157 a0001c0001t0013g0158 a0001c0001t0013g0160 a0001c0001t0013g0161 a0001c0001t0015g0234 a0001c0001t0015g0235 a0001c0001t0017g0042 a0001c0001t0017g0043 a0001c0001t0022g0128 a0001c0001t0022g0237 a0001c0001t0035g0159 a0001c0001t0041g0251 a0001c0001t0047g0123 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0065 a0001c0002t0001g0069 a0001c0002t0001g0111 a0001c0002t0002g0057 a0001c0002t0002g0066 a0001c0002t0002g0144 a0001c0003t0001g0250 a0001c0003t0001g0252 a0001c0003t0044g0249	45	404	0.1114	10	c.130 others(29): Show c.1300-1525_1300-1516dupTTTTTTTTTT	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AEBP2_chr12_19434492_19527227	19514191	G G	GGGTTTCA others(3): Show GGGTTTCACCA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0178 a0001c0001t0032g0178	1	404	0.0025	10	c.136 others(27): Show c.1368-479_1368-478insGTTTCACCAG	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AEN_chr15_88616340_88637281	88622619	A A	AAACAGAA others(3): Show AAACAGAACAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG03579.hp2 HG02257.hp2 HG02809.hp1 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0017 a0003c0004t0017	a0003c0004t0017g0017 a0003c0004t0017g0017	3	440	0.0068	10	c.-65 others(27): Show c.-65+1247_-65+1256dupGAACAGAACA	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
AFAP1L1_chr5_149266859_149348637	149305878	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02723.hp2 HG02922.hp1 HG00438.hp2 HG02723.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0039 a0001c0001t0003g0062 a0001c0001t0005g0186 a0001c0001t0003g0039 a0001c0001t0003g0062 a0001c0001t0005g0186	3	286	0.0105	10	c.437 others(25): Show c.437-394_437-385dupACACACACAC	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr5	TogoVar

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