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
ARRDC5_chr19_4885437_4907896	4886710	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG02300.hp1 others(3): Show HG00099.hp2 HG00735.hp2 HG02300.hp1 HG03239.hp2 NA18959.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0092 a0001c0001t0001g0110 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0246	6	412	0.0146	20	c.43 others(31): Show c.4335_*4336insAAAAAAAATATATATATATA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3726		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886710	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	412	0.0024	20	c.43 others(31): Show c.4335_*4336insAAAAAAAAAATATATATATA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3726		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4894510	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp2 HG02965.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0156	3	412	0.0073	20	c.459 others(37): Show c.459+2141_459+2160dupTTTTTTTTTTTTTTTTTTTT	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2			chr19	TogoVar
ARSB_chr5_78772209_78990310	78787091	C C	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0044 a0002c0002t0007g0044	1	360	0.0028	20	c.121 others(39): Show c.1214-5137_1214-5118dupAGATAGATAGATAGATAGAT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78972516	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02976.hp2 HG01109.hp2 HG01243.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0003t0012 a0001c0007t0068 a0001c0003t0002 a0001c0003t0012 a0001c0007t0068	a0001c0003t0002g0270 a0001c0003t0012g0166 a0001c0007t0068g0111 a0001c0003t0002g0270 a0001c0003t0012g0166 a0001c0007t0068g0111	3	360	0.0083	20	c.313 others(37): Show c.313-3344_313-3325dupGTGTGTGTGTGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980725	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0003 a0001c0005t0017g0003	1	360	0.0028	20	c.312 others(37): Show c.312+4211_312+4212insACACACACACACACACACAC	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSF_chrX_3036471_3117727	3055342	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0006 a0005c0006t0001g0005 a0005c0006t0001g0006	2	193	0.0104	20	c.-28 others(39): Show c.-28-12727_-28-12708dupAAAAAAAAAAAAAAAAAAAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSG_chr17_68286495_68425814	68331237	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19054.hp1 NA19054.hp2 others(1): Show HG00621.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0006c0008t0002 a0001c0001t0001 a0001c0001t0002 a0006c0008t0002	a0001c0001t0001g0030 a0001c0001t0001g0234 a0001c0001t0002g0086 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0234 a0001c0001t0002g0086 a0006c0008t0002g0102	4	304	0.0132	20	c.219 others(39): Show c.219-12348_219-12347insGTTTCTTTCTTTCTTTCTTT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68366673	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 HG02630.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0001 a0001c0013t0001 a0001c0003t0001 a0001c0013t0001	a0001c0003t0001g0058 a0001c0013t0001g0035 a0001c0003t0001g0058 a0001c0013t0001g0035	2	304	0.0066	20	c.705 others(37): Show c.705-1872_705-1871insGTGTGTGTGTGTGTGTGTGT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ART1_chr11_3640128_3669416	3663033	A A	ATCATCTC others(13): Show ATCATCTCATCTCATCTCATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18959.hp2 HG00099.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0277 a0001c0001t0001g0171 a0001c0001t0001g0277	2	394	0.0051	20	c.887 others(37): Show c.887-1033_887-1014dupTCATCTCATCTCATCTCATC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARVCF_chr22_19964896_20021823	19988612	T T	TGGTTCCC others(13): Show TGGTTCCCCAGCCTCAGCCCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0213 a0001c0001t0024g0213	1	374	0.0027	20	c.210 others(37): Show c.210+1953_210+1972dupGGGGCTGAGGCTGGGGAACC	ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding	3/19			chr22	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	300	0.0033	20	c.-29 others(31): Show c.-2903_-2902insTATATATATATATATATATA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2675		chrX	TogoVar
AR_chrX_67539021_67735619	67728574	A A	AATATATA others(13): Show AATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0077 a0003c0077	a0003c0077t0060 a0003c0077t0060	a0003c0077t0060g0100 a0003c0077t0060g0100	1	193	0.0052	20	c.47 others(31): Show c.4755_*4774dupTATATATATATATATATATA	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	8/8	4775	INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102871727	C C	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18973.hp1 NA19078.hp2 HG00673.hp2 NA18973.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0028 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0028	3	362	0.0083	20	c.171 others(35): Show c.171-708_171-689dupACAAAACAAAACAAAACAAA	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCC others(13): Show GCCTGCCCGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0176 a0001c0006t0006g0176	1	362	0.0028	20	c.886 others(35): Show c.886-927_886-926insGCCCGCCTTCCTTCCTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(13): Show GCCTGCCTGCCTGCCTGCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02083.hp1 HG02622.hp1 others(5): Show HG00099.hp1 HG02083.hp1 HG02622.hp1 NA18951.hp2 NA18974.hp2 NA19030.hp2 NA19077.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015	a0001c0001t0002g0119 a0001c0001t0002g0127 a0001c0001t0002g0128 others(5): Show a0001c0001t0002g0119 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0143 a0001c0001t0002g0161 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0015g0142	8	362	0.0221	20	c.886 others(35): Show c.886-927_886-926insGCCTGCCTGCCTGCCTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01071.hp2 HG02135.hp2 others(3): Show HG00609.hp1 HG01071.hp2 HG02135.hp2 HG03098.hp2 NA18941.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0004 a0001c0001t0003 a0001c0001t0005 a0001c0002t0004	a0001c0001t0003g0001 a0001c0001t0003g0063 a0001c0001t0003g0083 others(3): Show a0001c0001t0003g0001 a0001c0001t0003g0063 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0005g0092 a0001c0002t0004g0057	6	362	0.0166	20	c.55 others(31): Show c.5576_*5577insAAAAATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 NA18982.hp1 NA18994.hp1 HG02004.hp2 NA18982.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0009 a0001c0001t0002g0135 a0001c0001t0003g0064 a0001c0001t0002g0009 a0001c0001t0002g0135 a0001c0001t0003g0064	3	362	0.0083	20	c.55 others(31): Show c.5576_*5577insAAATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	362	0.0028	20	c.55 others(31): Show c.5576_*5577insATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049206	G G	GGGGGCAG others(13): Show GGGGGCAGAGGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	308	0.0033	20	c.55 others(31): Show c.5524_*5525insATGTGTTCCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2897		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049247	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0290 a0001c0001t0018g0290	1	308	0.0033	20	c.54 others(31): Show c.5483_*5484insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2856		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049249	G G	GGGCAGAG others(13): Show GGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	308	0.0033	20	c.54 others(31): Show c.5481_*5482insTCCATGTGTTCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2854		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049309	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	308	0.0033	20	c.54 others(31): Show c.5421_*5422insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2794		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049371	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	308	0.0033	20	c.53 others(31): Show c.5359_*5360insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2732		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049392	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp2 others(5): Show HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01361.hp2 HG03017.hp1 NA18950.hp2 NA18998.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0089 a0001c0001t0002g0149 a0001c0001t0002g0150 others(5): Show a0001c0001t0002g0089 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0179 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0160 a0002c0002t0002g0161	8	308	0.0260	20	c.53 others(31): Show c.5338_*5339insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2711		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049456	G G	GGGCAGAG others(13): Show GGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01516.hp1 HG04204.hp2 others(1): Show HG00735.hp2 HG01516.hp1 HG04204.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0188 a0001c0001t0002g0203 others(1): Show a0001c0001t0002g0154 a0001c0001t0002g0188 a0001c0001t0002g0203 a0001c0001t0002g0213	4	308	0.0130	20	c.52 others(31): Show c.5274_*5275insTCCATGTGTTCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2647		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049484	G G	GGAGAACA others(13): Show GGAGAACACATGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	308	0.0033	20	c.52 others(31): Show c.5246_*5247insTCTGCCCCCCATGTGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2619		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049487	G G	GAACACAT others(13): Show GAACACATGGAGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	308	0.0033	20	c.52 others(31): Show c.5243_*5244insTCCTCTGCCCTCCATGTGTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2616		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049487	G G	GAACACAT others(13): Show GAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	308	0.0033	20	c.52 others(31): Show c.5243_*5244insTCCTCTGCCCCCCATGTGTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2616		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049487	G G	GAATACAT others(13): Show GAATACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00323.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0266 a0002c0002t0001g0200 a0002c0002t0001g0266	2	308	0.0065	20	c.52 others(31): Show c.5243_*5244insTCCTCTGCCCCCCATGTATT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2616		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049525	A A	AGGAGAAC others(13): Show AGGAGAACACATGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18522.hp2 HG02257.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0217 a0001c0001t0001g0218	2	308	0.0065	20	c.52 others(31): Show c.5205_*5206insCTCTGCCCCATGTGTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2578		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049539	G G	GGGCAGAG others(13): Show GGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	308	0.0033	20	c.51 others(31): Show c.5191_*5192insTCCATGTGTTCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2564		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049594	C C	CACATGGG others(13): Show CACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0265 a0002c0002t0002g0265	1	308	0.0033	20	c.51 others(31): Show c.5136_*5137insATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2509		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049620	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	308	0.0033	20	c.51 others(31): Show c.5110_*5111insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2483		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049622	G G	GGGCAGAG others(13): Show GGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02523.hp2 HG01975.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0195 a0001c0001t0002g0054 a0001c0001t0002g0195	2	308	0.0065	20	c.51 others(31): Show c.5108_*5109insTCCATGTGTTCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2481		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049653	A A	AGAACACA others(13): Show AGAACACATGGGGGCAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19074.hp1 NA19010.hp2 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0030 a0002c0003t0001g0028 a0002c0003t0001g0030	2	308	0.0065	20	c.50 others(31): Show c.5077_*5078insCCCTCTGCCCCCATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2450		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049702	T T	TGGGGGGC others(13): Show TGGGGGGCAGAGGGGAACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	308	0.0033	20	c.50 others(31): Show c.5028_*5029insCGTGTTCCCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2401		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049723	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	308	0.0033	20	c.50 others(31): Show c.5007_*5008insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2380		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049744	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA18966.hp1 HG02647.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0272 a0002c0002t0002g0265 a0001c0001t0001g0272 a0002c0002t0002g0265	2	308	0.0065	20	c.49 others(31): Show c.4986_*4987insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2359		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049785	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02738.hp1 HG01074.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0005 a0002c0002t0001 a0001c0006t0005 a0002c0002t0001	a0001c0006t0005g0293 a0002c0002t0001g0105 a0001c0006t0005g0293 a0002c0002t0001g0105	2	308	0.0065	20	c.49 others(31): Show c.4945_*4946insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2318		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049806	G G	GGAGGGCA others(13): Show GGAGGGCAGAGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	308	0.0033	20	c.49 others(31): Show c.4924_*4925insATGTGTTCCCCTCTGCCCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2297		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	G G	GAACACAT others(13): Show GAACACATGGAGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	308	0.0033	20	c.48 others(31): Show c.4850_*4851insTCCTCTGCCCTCCATGTGTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2223		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	G G	GAACACAT others(13): Show GAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02559.hp1 HG00558.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0202 a0001c0001t0008g0040 a0001c0001t0002g0202 a0001c0001t0008g0040	2	308	0.0065	20	c.48 others(31): Show c.4850_*4851insTCCTCTGCCCCCCATGTGTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2223		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	G G	GAATACAT others(13): Show GAATACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 homoSapiens_chm13v2.hp1 HG00099.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0104 a0002c0002t0001g0076 a0002c0002t0001g0104	2	308	0.0065	20	c.48 others(31): Show c.4850_*4851insTCCTCTGCCCCCCATGTATT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2223		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049992	G G	GGGGGCAG others(13): Show GGGGGCAGAGGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	308	0.0033	20	c.47 others(31): Show c.4738_*4739insATGTGTTCCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2111		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049992	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	308	0.0033	20	c.47 others(31): Show c.4738_*4739insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2111		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050070	C C	CACATGGG others(13): Show CACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	308	0.0033	20	c.46 others(31): Show c.4660_*4661insATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2033		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050075	G G	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	308	0.0033	20	c.46 others(31): Show c.4655_*4656insATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2028		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050091	C C	CACATGGG others(13): Show CACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0030	1	308	0.0033	20	c.46 others(31): Show c.4639_*4640insATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2012		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050112	C C	CACATGGG others(13): Show CACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	308	0.0033	20	c.46 others(31): Show c.4618_*4619insATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1991		chr8	TogoVar

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