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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(9): Show ATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp1 HG02155.hp1 others(5): Show HG02071.hp2 HG02074.hp1 HG02155.hp1 NA18965.hp2 NA18975.hp2 NA18988.hp1 NA18998.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0216 a0001c0002t0001g0232 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0216 a0001c0002t0001g0232 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249	8	384	0.0208	16	c.375 others(33): Show c.375+2932_375+2933insAAAAAAAAAATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD6_chr1_180283230_180507577	180484999	G G	GGCGGGGG others(9): Show GGCGGGGGTTGCAGTGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01081.hp2 others(21): Show HG00323.hp1 HG01069.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01358.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 others(21): Show a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167	24	334	0.0719	16	c.384 others(33): Show c.384+7254_384+7269dupTCACTGCAACCCCCGC	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	3/7			chr1	TogoVar
ACCS_chr11_44061270_44089237	44072148	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(115): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp1 NA19078.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0009 a0011 a0012 a0013	a0001c0001 a0002c0003 a0002c0004 others(8): Show a0001c0001 a0002c0003 a0002c0004 a0003c0002 a0003c0008 a0004c0005 a0007c0009 a0009c0010 a0011c0014 a0012c0015 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0003t0001 a0002c0004t0001 a0003c0002t0001 a0003c0002t0007 a0003c0008t0002 a0004c0005t0001 a0004c0005t0002 a0007c0009t0001 a0009c0010t0001 a0011c0014t0001 a0012c0015t0001 a0013c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0276 a0001c0001t0002g0014 a0001c0001t0004g0171 a0002c0003t0001g0020 a0002c0003t0001g0039 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0139 a0002c0003t0001g0172 a0002c0004t0001g0089 a0002c0004t0001g0152 a0002c0004t0001g0244 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0007g0094 a0003c0002t0007g0095 a0003c0008t0002g0210 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0270 a0004c0005t0002g0233 a0007c0009t0001g0271 a0007c0009t0001g0272 a0007c0009t0001g0273 a0009c0010t0001g0064 a0011c0014t0001g0121 a0012c0015t0001g0151 a0013c0013t0001g0119	118	438	0.2694	16	c.348 others(31): Show c.348+846_348+861dupTTTATTTATTTATTTA	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER1_chr19_6301142_6338612	6324860	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19087.hp1 NA19090.hp1 HG03942.hp2 NA19087.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0239 a0001c0003t0001g0355 a0002c0002t0001g0299 a0001c0001t0001g0239 a0001c0003t0001g0355 a0002c0002t0001g0299	3	396	0.0076	16	c.93+ others(31): Show c.93+8583_93+8598dupCCTTCCTTCCTTCCTT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6324860	A A	AAAGGAAG others(9): Show AAAGGAAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp2 HG03579.hp1 others(1): Show HG02486.hp2 HG03195.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0146 a0001c0001t0001g0147 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148	4	396	0.0101	16	c.93+ others(31): Show c.93+8598_93+8599insCCTCCCTCCCTTCCTT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6324910	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	396	0.0025	16	c.93+ others(31): Show c.93+8548_93+8549insCTCCTTCCTTCCTTCC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER2_chr9_19404009_19457505	19439344	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0098 a0001c0003t0028g0098	1	358	0.0028	16	c.503 others(33): Show c.503+4273_503+4274insTTTTTTTTTTTTTTTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76859890	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01981.hp1 HG02486.hp2 others(4): Show HG01884.hp2 HG01981.hp1 HG02486.hp2 HG02717.hp1 HG03130.hp2 HG03225.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0022 a0001c0003t0027 a0001c0003t0131 others(4): Show a0001c0001t0022 a0001c0003t0027 a0001c0003t0131 a0001c0003t0149 a0002c0002t0044 a0002c0002t0110 a0002c0002t0117	a0001c0001t0022g0080 a0001c0003t0027g0119 a0001c0003t0131g0342 others(4): Show a0001c0001t0022g0080 a0001c0003t0027g0119 a0001c0003t0131g0342 a0001c0003t0149g0337 a0002c0002t0044g0260 a0002c0002t0110g0301 a0002c0002t0117g0216	7	346	0.0202	16	c.-10 others(27): Show c.-1087_-1086insTTTATTTATTTATTTA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding		1027		chr11	TogoVar
ACER3_chr11_76855918_77031797	76875107	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18522.hp1 NA19043.hp1 others(1): Show HG03098.hp2 NA18522.hp1 NA19043.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0021 a0002c0002t0045 a0002c0004t0089 a0002c0002t0021 a0002c0002t0045 a0002c0004t0089	a0002c0002t0021g0008 a0002c0002t0021g0012 a0002c0002t0045g0013 others(1): Show a0002c0002t0021g0008 a0002c0002t0021g0012 a0002c0002t0045g0013 a0002c0004t0089g0314	4	346	0.0116	16	c.103 others(35): Show c.103+14039_103+14054dupTTTTTTTTTTTTTTTT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76933173	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01099.hp1 HG01361.hp1 others(11): Show HG00597.hp1 HG01099.hp1 HG01361.hp1 HG03491.hp2 NA18612.hp2 NA18747.hp1 NA18947.hp2 NA18957.hp2 NA18968.hp1 NA18985.hp2 NA18991.hp2 NA19009.hp2 NA19062.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0023 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0023 a0001c0001t0035 a0001c0001t0048 a0001c0001t0049	a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0161 others(11): Show a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0012g0133 a0001c0001t0023g0063 a0001c0001t0035g0070 a0001c0001t0048g0188 a0001c0001t0049g0172	14	346	0.0405	16	c.214 others(33): Show c.214+6511_214+6526dupATATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77024272	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0086 a0001c0001t0080g0086	1	346	0.0029	16	c.39 others(27): Show c.3959_*3974dupAAAAAAAAAAAAAAAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	3975	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77025392	T T	TTATATAT others(9): Show TTATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0144 a0001c0003t0144	a0001c0003t0144g0338 a0001c0003t0144g0338	1	346	0.0029	16	c.50 others(27): Show c.5069_*5084dupATATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	5085	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR2_chr3_42804445_42872286	42822165	T T	TATAAATA others(9): Show TATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG01109.hp2 HG02895.hp1 HG02897.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0015 a0001c0001t0001 a0002c0003t0015	a0001c0001t0001g0024 a0001c0001t0001g0192 a0002c0003t0015g0183 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0192 a0002c0003t0015g0183 a0002c0003t0015g0184	4	342	0.0117	16	c.-38 others(33): Show c.-38+2472_-38+2487dupTAAATAAATAAATAAA	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACKR3_chr2_236564825_236587354	236566718	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00673.hp2 others(34): Show HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01358.hp2 HG01891.hp2 HG01934.hp2 HG02109.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18944.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19076.hp1 NA19077.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0035 a0001c0002t0001g0071 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0110 a0001c0002t0001g0115 a0001c0002t0002g0023 a0001c0002t0005g0087 a0001c0002t0006g0102	37	394	0.0939	16	c.-32 others(27): Show c.-3233_-3232insCCTTCCTTCCTTCCTT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3106		chr2	TogoVar
ACKR3_chr2_236564825_236587354	236577148	G G	GAGTGATG others(9): Show GAGTGATGATAGGTGGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0078 a0007c0014t0001g0078	1	394	0.0025	16	c.-26 others(33): Show c.-26-3291_-26-3276dupAGTGATGATAGGTGGC	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0254 a0001c0003t0001g0254	1	294	0.0034	16	c.226 others(33): Show c.2266-739_2266-724dupTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41882367	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19085.hp1 HG02818.hp2 NA19085.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0005 a0005c0008t0001g0065 a0001c0001t0001g0005 a0005c0008t0001g0065	2	294	0.0068	16	c.226 others(33): Show c.2265+739_2265+754dupTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41889524	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA19043.hp2 HG03492.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0002g0291 a0001c0001t0001g0025 a0001c0001t0002g0291	2	294	0.0068	16	c.177 others(35): Show c.1771-1837_1771-1822dupTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	16/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834771	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01978.hp2 HG02109.hp2 others(7): Show HG01081.hp2 HG01978.hp2 HG02109.hp2 HG02559.hp2 HG02602.hp2 HG02735.hp2 HG02922.hp2 HG03579.hp1 NA18987.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0083 others(7): Show a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0216 a0001c0009t0001g0169	10	382	0.0262	16	c.-39 others(27): Show c.-3912_-3911insGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3844		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834775	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA19000.hp1 NA19004.hp2 others(1): Show NA18983.hp1 NA19000.hp1 NA19004.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0069	4	382	0.0105	16	c.-39 others(27): Show c.-3908_-3907insGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3840		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 NA18957.hp2 NA19062.hp1 HG01952.hp2 NA18957.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0158 a0001c0001t0001g0004 a0001c0001t0001g0158	3	382	0.0079	16	c.-38 others(27): Show c.-3876_-3875insGGAAGGAAGGAAGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03831.hp1 HG02886.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0108 a0001c0001t0001g0114	2	382	0.0052	16	c.-38 others(27): Show c.-3876_-3875insGGAAGGAAGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(9): Show AGGAAGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	382	0.0026	16	c.-38 others(27): Show c.-3876_-3875insGGAAGGAGGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAAAGA others(9): Show GGGAAAGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	382	0.0026	16	c.-38 others(27): Show c.-3832_-3831insGGAAAGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	382	0.0026	16	c.-38 others(27): Show c.-3832_-3831insGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(9): Show GGGAGGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02080.hp2 HG02698.hp1 others(5): Show HG00597.hp1 HG02080.hp2 HG02698.hp1 NA18965.hp1 NA18992.hp1 NA19002.hp2 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0149 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0149 a0001c0001t0001g0176 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0335 a0001c0001t0001g0336	8	382	0.0209	16	c.-38 others(27): Show c.-3832_-3831insGGAGGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(9): Show GGGAGGGAGGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01361.hp2 HG03704.hp1 HG01099.hp2 HG01361.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0082 a0001c0001t0001g0112 a0001c0001t0001g0113	3	382	0.0079	16	c.-38 others(27): Show c.-3832_-3831insGGAGGGAGGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834902	A A	AAGGCAGG others(9): Show AAGGCAGGCAGGCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02451.hp2 others(12): Show HG02109.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0105 a0001c0001t0001g0148 a0001c0001t0001g0236 a0001c0001t0001g0308 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0358 a0001c0004t0001g0147 a0001c0004t0001g0190 a0001c0004t0001g0191 a0002c0002t0001g0183	15	382	0.0393	16	c.-37 others(27): Show c.-3781_-3780insAGGCAGGCAGGCAGGC	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3713		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00738.hp2 others(11): Show HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG03490.hp2 NA18963.hp1 NA18982.hp2 NA18985.hp1 NA18991.hp1 NA18992.hp1 NA19000.hp1 NA19007.hp1 NA19011.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(11): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050	14	382	0.0367	16	c.57+ others(31): Show c.57+1439_57+1454dupAAAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840184	A A	AAAAAAAA others(9): Show AAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	382	0.0026	16	c.57+ others(31): Show c.57+1454_57+1455insACAAAACAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134845509	G G	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18975.hp1 HG00738.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0045 a0001c0001t0001g0061	2	382	0.0052	16	c.102 others(31): Show c.102+263_102+278dupTCTCTCTCTCTCTCTC	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134847397	C C	CAGATAGA others(9): Show CAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03540.hp1 others(3): Show HG03098.hp2 HG03453.hp2 HG03540.hp1 NA18954.hp1 NA19007.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 others(3): Show a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0320	6	382	0.0157	16	c.102 others(33): Show c.102+2158_102+2173dupGATAGATAGATAGATA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134871682	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	382	0.0026	16	c.676 others(31): Show c.676+638_676+653dupCACACACACACACACA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02486.hp2 others(5): Show HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02922.hp2 HG03209.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0005t0001g0015	8	434	0.0184	16	c.-43 others(27): Show c.-4302_-4301insAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT11_chr1_54543228_54615329	54571061	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02895.hp2 HG02897.hp2 HG01255.hp1 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0003 a0002c0009t0007 a0002c0002t0003 a0002c0009t0007	a0002c0002t0003g0062 a0002c0009t0007g0067 a0002c0009t0007g0068 a0002c0002t0003g0062 a0002c0009t0007g0067 a0002c0009t0007g0068	3	388	0.0077	16	c.34- others(33): Show c.34-13583_34-13582insCTCTCTCTCTCTCTCT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599175	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0097 a0002c0002t0004g0097	1	388	0.0026	16	c.765 others(31): Show c.765-120_765-119insTATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599179	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0255 a0002c0002t0009g0255	1	388	0.0026	16	c.765 others(31): Show c.765-116_765-115insTATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599181	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0152 a0002c0002t0004g0152	1	388	0.0026	16	c.765 others(29): Show c.765-87_765-72dupTATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6333711	A A	ACCCCCAA others(9): Show ACCCCCAAGCCCCCAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	240	0.0042	16	c.419 others(31): Show c.419-159_419-144dupCTTGGGGGCTTGGGGG	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	3/8			chr1	TogoVar
ACOT9_chrX_23696055_23748276	23742209	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01192.hp1 others(15): Show HG00099.hp1 HG00423.hp1 HG01192.hp1 HG02004.hp1 HG02148.hp2 HG02523.hp1 HG02976.hp1 HG03239.hp2 HG03831.hp2 NA18948.hp1 NA18954.hp2 NA18973.hp2 NA18975.hp2 NA19007.hp1 NA19056.hp1 NA19070.hp1 NA19081.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0025 a0001c0001t0045 a0001c0002t0029 a0001c0002t0049	a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0126 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0003g0006 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0005g0031 a0001c0001t0012g0030 a0001c0001t0025g0029 a0001c0001t0045g0125 a0001c0002t0029g0028 a0001c0002t0049g0123	18	309	0.0583	16	c.20+ others(29): Show c.20+915_20+916insTCTCTCTCTCTCTCTC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742213	T T	TGAGTGAG others(9): Show TGAGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	309	0.0032	16	c.20+ others(29): Show c.20+911_20+912insTCTCTCTCTCTCACTC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742256	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA21309.hp2 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0080 a0001c0001t0014g0081 a0001c0001t0008g0080 a0001c0001t0014g0081	2	309	0.0065	16	c.20+ others(29): Show c.20+868_20+869insATCTCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742256	G G	GAGAGAGA others(9): Show GAGAGAGAGAGATAGAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0014 a0001c0002t0017g0014	1	309	0.0032	16	c.20+ others(29): Show c.20+868_20+869insATCTATCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75970184	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01515.hp1 HG01517.hp1 others(8): Show HG01106.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG03098.hp1 HG03209.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0004t0008 a0001c0004t0053	a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0112 others(8): Show a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0003g0058 a0001c0001t0003g0155 a0001c0001t0019g0113 a0001c0004t0008g0116 a0001c0004t0008g0132 a0001c0004t0053g0131	11	344	0.0320	16	c.269 others(33): Show c.269+8334_269+8349dupTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75978082	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02273.hp1 NA18954.hp1 others(13): Show HG02132.hp2 HG02273.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18972.hp1 NA18980.hp2 NA18992.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19065.hp2 NA19067.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0004 a0001c0001t0015 a0001c0001t0035 others(3): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0035 a0001c0001t0041 a0001c0008t0004 a0002c0002t0001	a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 others(13): Show a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0015g0331 a0001c0001t0035g0325 a0001c0001t0041g0330 a0001c0008t0004g0319 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0334	16	344	0.0465	16	c.269 others(31): Show c.269+436_269+451dupTAAATAAATAAATAAA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58541624	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01261.hp2 HG01943.hp1 others(13): Show HG00738.hp2 HG01261.hp2 HG01943.hp1 HG02055.hp2 HG02148.hp1 HG02630.hp1 HG02886.hp2 HG03098.hp2 HG03491.hp1 HG03540.hp2 NA18941.hp1 NA18994.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0116 a0001c0001t0001g0150 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0101	16	364	0.0440	16	c.-45 others(27): Show c.-4598_-4597insCACACACACACACACA	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding		4435		chr3	TogoVar
ACOXL_chr2_110727573_111123548	110768513	T T	TGTGTGTG others(9): Show TGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0139 a0002c0002t0003g0139	1	150	0.0067	16	c.75+ others(27): Show c.75+50_75+51insTGTGTGAGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110768513	T T	TGTGTGTG others(9): Show TGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00673.hp1 others(2): Show HG00423.hp1 HG00438.hp1 HG00673.hp1 HG01981.hp1 NA18612.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0007 a0002c0002 a0003c0004 a0005c0007	a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 others(2): Show a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0003c0004t0004 a0005c0007t0004	a0002c0002t0003g0142 a0002c0002t0004g0141 a0003c0004t0003g0143 others(2): Show a0002c0002t0003g0142 a0002c0002t0004g0141 a0003c0004t0003g0143 a0003c0004t0004g0140 a0005c0007t0004g0144	5	150	0.0333	16	c.75+ others(27): Show c.75+50_75+51insTGTGTGTGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110769226	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02280.hp1 others(1): Show HG02109.hp1 HG02145.hp2 HG02280.hp1 HG03195.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0001c0001t0006 a0008c0008t0001 a0001c0001t0001 a0001c0001t0006 a0008c0008t0001	a0001c0001t0001g0145 a0001c0001t0006g0017 a0008c0008t0001g0015 others(1): Show a0001c0001t0001g0145 a0001c0001t0006g0017 a0008c0008t0001g0015 a0008c0008t0001g0016	4	150	0.0267	16	c.75+ others(29): Show c.75+786_75+801dupGAAAGAAAGAAAGAAA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110811730	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01346.hp1 others(6): Show HG00140.hp1 HG01081.hp1 HG01346.hp1 HG01517.hp2 HG02080.hp1 NA18998.hp1 NA18998.hp2 NA19011.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0019	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0019t0001	a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0097 others(6): Show a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0002g0078 a0001c0003t0001g0075 a0002c0002t0001g0023 a0002c0002t0001g0066 a0002c0019t0001g0095	9	150	0.0600	16	c.753 others(33): Show c.753+6376_753+6391dupACACACACACACACAC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)