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
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp2 HG01071.hp1 others(17): Show HG00423.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01891.hp2 HG02486.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03834.hp2 HG03942.hp1 NA18991.hp1 NA18992.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 a0002c0002t0007	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0046 others(13): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0157 a0001c0001t0003g0036 a0001c0001t0003g0220 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0252 a0001c0001t0003g0262 a0001c0008t0001g0182 a0002c0002t0007g0034 a0002c0002t0007g0241 a0002c0002t0007g0242	20	336	0.0595	12	c.470 others(27): Show c.470-667_470-656dupCACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123597918	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02109.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0123 a0001c0002t0001g0112 a0001c0001t0002g0123 a0001c0002t0001g0112	2	380	0.0053	12	c.-42 others(23): Show c.-4241_-4240insTGTGTGTGTGTA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding		3902		chr7	TogoVar
ASB15_chr7_123596821_123644481	123621481	G G	GTTCTTGA others(5): Show GTTCTTGAATCTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0068 a0001c0001t0012g0068	1	380	0.0026	12	c.452 others(29): Show c.452-3086_452-3075dupTCTTGAATCTAT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0040 a0017c0015t0040	a0017c0015t0040g0145 a0017c0015t0040g0145	1	380	0.0026	12	c.90 others(21): Show c.908_*919dupAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB16_chr17_44165704_44184084	44171561	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG00741.hp2 others(22): Show HG00621.hp1 HG00735.hp2 HG00741.hp2 HG01243.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA18967.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA19009.hp2 NA19063.hp1 NA19079.hp2 NA19085.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0003c0003t0001g0061	25	362	0.0691	12	c.301 others(27): Show c.301+476_302-469dupAAAAAAAAAAAA	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASB18_chr2_236188459_236269406	236188826	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG03139.hp1 HG02451.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0022 a0001c0001t0001 a0001c0022t0022	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0022t0022g0034 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0022t0022g0034	3	250	0.0120	12	c.60 others(23): Show c.6045_*6046insAAAAAAAAAAAA	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding		4632		chr2	TogoVar
ASB18_chr2_236188459_236269406	236194068	T T	TATGAATG others(5): Show TATGAATGAATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02717.hp2 others(6): Show HG01884.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0004 a0001c0003t0005g0023 others(4): Show a0001c0003t0005g0002 a0001c0003t0005g0004 a0001c0003t0005g0023 a0001c0003t0005g0024 a0001c0003t0005g0027 a0001c0003t0005g0215 a0001c0003t0005g0216	9	250	0.0360	12	c.79 others(21): Show c.792_*803dupTCATTCATTCAT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	6/6	803		chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAATA others(5): Show AAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	250	0.0040	12	c.110 others(31): Show c.1102-6410_1102-6409insATATATATTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236238610	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0025 a0001c0008 a0001c0025	a0001c0008t0003 a0001c0025t0003 a0001c0008t0003 a0001c0025t0003	a0001c0008t0003g0077 a0001c0025t0003g0222 a0001c0008t0003g0077 a0001c0025t0003g0222	2	250	0.0080	12	c.329 others(27): Show c.329-666_329-655dupACACACACACAC	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	2/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236247304	C C	CTCATTCA others(5): Show CTCATTCATTCAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	250	0.0040	12	c.206 others(29): Show c.206-5914_206-5903dupATGAATGAATGA	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236252267	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03492.hp2 NA18993.hp2 HG02074.hp2 HG03492.hp2 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0074 a0001c0001t0001g0110 a0002c0002t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0110 a0002c0002t0001g0063	3	250	0.0120	12	c.206 others(31): Show c.206-10877_206-10866dupTGTGTGTGTGTG	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5			chr2	TogoVar
ASB1_chr2_238421927_238457250	238438199	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03209.hp1 NA19082.hp2 HG02074.hp2 HG03209.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0011 a0001c0001t0019	a0001c0001t0011g0060 a0001c0001t0011g0090 a0001c0001t0019g0061 a0001c0001t0011g0060 a0001c0001t0011g0090 a0001c0001t0019g0061	3	416	0.0072	12	c.494 others(29): Show c.494+2193_494+2204dupTTTTTTTTTTTT	ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB2_chr14_93929166_93981570	93935423	G G	GTCATTCA others(5): Show GTCATTCATTCAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA19030.hp1 NA20752.hp2 HG01070.hp2 NA19030.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0065 a0001c0001t0001g0246 a0001c0001t0005g0019 a0001c0001t0001g0065 a0001c0001t0001g0246 a0001c0001t0005g0019	3	373	0.0080	12	c.177 others(29): Show c.1772-643_1772-632dupATGAATGAATGA	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	9/9			chr14	TogoVar
ASB2_chr14_93929166_93981570	93935778	A A	ACTGCCCT others(5): Show ACTGCCCTCTGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(155): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0009 a0012	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0010 a0002c0022 a0004c0006 a0006c0009 a0009c0012 a0012c0017	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(15): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0008t0002 a0002c0010t0004 a0002c0022t0003 a0004c0006t0003 a0006c0009t0003 a0009c0012t0002 a0012c0017t0003	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(144): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0335 a0001c0001t0006g0353 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0123 a0001c0002t0001g0132 a0001c0002t0001g0285 a0001c0002t0002g0005 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0135 a0001c0002t0002g0141 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0151 a0001c0002t0002g0154 a0001c0002t0002g0158 a0001c0002t0002g0162 a0001c0002t0002g0177 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0196 a0001c0002t0002g0201 a0001c0002t0002g0209 a0001c0002t0002g0212 a0001c0002t0002g0220 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0244 a0001c0002t0002g0273 a0001c0002t0002g0296 a0001c0002t0002g0300 a0001c0002t0002g0303 a0001c0002t0002g0307 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0340 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0003g0031 a0001c0002t0004g0301 a0001c0002t0004g0344 a0001c0003t0002g0098 a0001c0003t0002g0265 a0001c0005t0001g0040 a0001c0005t0002g0037 a0001c0005t0003g0297 a0001c0005t0004g0293 a0001c0008t0002g0116 a0001c0008t0002g0156 a0002c0010t0004g0347 a0002c0010t0004g0351 a0002c0022t0003g0219 a0004c0006t0003g0056 a0004c0006t0003g0186 a0006c0009t0003g0337 a0006c0009t0003g0338 a0009c0012t0002g0155 a0012c0017t0003g0291	158	373	0.4236	12	c.177 others(29): Show c.1772-998_1772-987dupCTCAGAGGGCAG	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	9/9			chr14	TogoVar
ASB2_chr14_93929166_93981570	93938233	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	373	0.0027	12	c.161 others(29): Show c.1618-394_1618-383dupAAAAAAAAAAAA	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	8/9			chr14	TogoVar
ASB2_chr14_93929166_93981570	93960950	G G	GATAAATA others(5): Show GATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00738.hp2 others(26): Show HG00544.hp2 HG00558.hp2 HG00738.hp2 HG01071.hp2 HG01168.hp1 HG01257.hp2 HG01261.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02886.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03831.hp2 NA18959.hp1 NA18959.hp2 NA18968.hp1 NA18995.hp2 NA19043.hp2 NA19058.hp2 NA19080.hp2 NA19084.hp1 NA19091.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0152 others(26): Show a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0218 a0001c0001t0001g0272 a0001c0001t0001g0286 a0001c0001t0001g0343 a0001c0001t0002g0193 a0001c0001t0002g0207 a0001c0002t0002g0151 a0001c0002t0002g0154 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0209 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0139 a0001c0003t0001g0195 a0001c0003t0001g0204 a0001c0003t0001g0289 a0001c0003t0001g0290 a0003c0004t0001g0190 a0003c0004t0001g0194	29	373	0.0778	12	c.206 others(29): Show c.206+3372_206+3383dupTTATTTATTTAT	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	2/9			chr14	TogoVar
ASB2_chr14_93929166_93981570	93960984	T T	TAAACAAA others(5): Show TAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03209.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0017 a0001c0002 a0012c0017	a0001c0002t0002 a0012c0017t0003 a0001c0002t0002 a0012c0017t0003	a0001c0002t0002g0015 a0012c0017t0003g0291 a0001c0002t0002g0015 a0012c0017t0003g0291	3	373	0.0080	12	c.206 others(29): Show c.206+3349_206+3350insGTTTGTTTGTTT	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	2/9			chr14	TogoVar
ASB2_chr14_93929166_93981570	93960984	T T	TAAATAAA others(5): Show TAAATAAACAAAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	373	0.0027	12	c.206 others(29): Show c.206+3349_206+3350insGTTTGTTTATTT	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	2/9			chr14	TogoVar
ASB2_chr14_93929166_93981570	93960984	T T	TAAATAAA others(5): Show TAAATAAATAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp2 HG02280.hp1 HG03453.hp2	a0001 a0010 a0001 a0010	a0001c0016 a0010c0019 a0001c0016 a0010c0019	a0001c0016t0001 a0010c0019t0001 a0001c0016t0001 a0010c0019t0001	a0001c0016t0001g0032 a0010c0019t0001g0034 a0001c0016t0001g0032 a0010c0019t0001g0034	2	373	0.0054	12	c.206 others(29): Show c.206+3349_206+3350insGTTTATTTATTT	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	2/9			chr14	TogoVar
ASB3_chr2_53664980_53791953	53671353	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp2 HG02559.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0274 a0001c0001t0004g0150 a0001c0001t0001g0274 a0001c0001t0004g0150	2	350	0.0057	12	c.137 others(29): Show c.1370-675_1370-664dupACACACACACAC	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	9/9			chr2	TogoVar
ASB4_chr7_95480943_95545233	95513293	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG03225.hp1 others(1): Show HG00639.hp2 HG01106.hp2 HG03225.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0003g0045 others(1): Show a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0003g0045 a0001c0001t0003g0377	4	388	0.0103	12	c.488 others(31): Show c.488-14492_488-14481dupGTGTGTGTGTGT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515167	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01952.hp1 HG02004.hp1 others(7): Show HG00639.hp2 HG01952.hp1 HG02004.hp1 HG02300.hp2 HG02602.hp2 HG03710.hp2 HG06807.hp2 NA18978.hp2 NA18992.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0246 others(7): Show a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0246 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0003g0206 a0001c0001t0008g0165	10	388	0.0258	12	c.488 others(31): Show c.488-12592_488-12581dupCTTTCTTTCTTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515231	T T	TTCTTTCT others(5): Show TTCTTTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0260 a0001c0001t0009g0260	1	388	0.0026	12	c.488 others(31): Show c.488-12581_488-12580insCTTTCTCTTTCT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515267	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02602.hp2 NA19054.hp2 HG01167.hp1 HG02602.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0335 a0001c0001t0008g0123 a0001c0001t0008g0165 a0001c0001t0001g0335 a0001c0001t0008g0123 a0001c0001t0008g0165	3	388	0.0077	12	c.488 others(31): Show c.488-12505_488-12494dupTCTTTCTTTCTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515316	T T	TCTTCCTT others(5): Show TCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00558.hp1 others(9): Show HG00140.hp1 HG00423.hp2 HG00558.hp1 HG00673.hp2 HG02080.hp2 HG03710.hp2 HG03831.hp2 NA18948.hp1 NA18978.hp2 NA19002.hp1 NA19060.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0023	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 others(9): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0298 a0001c0001t0003g0206 a0001c0001t0004g0093 a0001c0001t0023g0218	12	388	0.0309	12	c.488 others(31): Show c.488-12489_488-12478dupCCTTCCTTCCTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515316	T T	TCTTTCTT others(5): Show TCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	388	0.0026	12	c.488 others(31): Show c.488-12494_488-12493insTCTTCCTTCCTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515316	T T	TCTTTCTT others(5): Show TCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01361.hp1 HG01934.hp1 others(9): Show HG01070.hp2 HG01361.hp1 HG01934.hp1 HG01943.hp2 HG03490.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18942.hp2 NA19011.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0213 others(9): Show a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0247 a0001c0001t0001g0256 a0001c0001t0001g0303 a0001c0001t0001g0314 a0001c0001t0002g0148 a0001c0001t0003g0057 a0001c0001t0004g0146 a0001c0001t0017g0282	12	388	0.0309	12	c.488 others(31): Show c.488-12494_488-12493insTCTTTCTTCCTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176219575	G G	GATATATA others(5): Show GATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	410	0.0024	12	c.670 others(29): Show c.670+1579_670+1580insATTTTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219575	G G	GATATATA others(5): Show GATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp2 HG03139.hp2 HG02280.hp1 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0183 a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0183	3	410	0.0073	12	c.670 others(29): Show c.670+1579_670+1580insATATTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219575	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01433.hp2 NA19010.hp2 others(1): Show HG01256.hp2 HG01433.hp2 NA19010.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0115 a0001c0002t0002g0197 others(1): Show a0001c0002t0002g0104 a0001c0002t0002g0115 a0001c0002t0002g0197 a0001c0002t0002g0362	4	410	0.0098	12	c.670 others(29): Show c.670+1568_670+1579dupATATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251564	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04199.hp1 HG02071.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0225 a0001c0001t0001g0199 a0001c0001t0001g0225	2	410	0.0049	12	c.196 others(31): Show c.196+17337_196+17348dupTTTTTTTTTTTT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02809.hp2 HG02970.hp1 others(1): Show HG00738.hp1 HG02809.hp2 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0004t0008 a0001c0001t0001 a0001c0001t0010 a0001c0004t0008	a0001c0001t0001g0308 a0001c0001t0010g0021 a0001c0004t0008g0022 others(1): Show a0001c0001t0001g0308 a0001c0001t0010g0021 a0001c0004t0008g0022 a0001c0004t0008g0172	4	368	0.0109	12	c.-27 others(23): Show c.-2768_-2767insAAAAAAAAAAAA	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding		2037		chr15	TogoVar
ASB7_chr15_100597589_100656701	100611484	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0170 a0001c0001t0008g0170	1	368	0.0027	12	c.-51 others(27): Show c.-51-680_-51-669dupTTTTTTTTTTTT	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB8_chr12_48142789_48162515	48158545	T T	TTTATTAT others(5): Show TTTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00621.hp1 others(65): Show HG00408.hp1 HG00423.hp1 HG00621.hp1 HG00639.hp2 HG01106.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 NA18522.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18980.hp1 NA18981.hp1 NA18998.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19067.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0027 a0001c0001t0037 a0001c0001t0046	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0002g0001 a0001c0001t0003g0094 a0001c0001t0004g0014 a0001c0001t0004g0018 a0001c0001t0004g0023 a0001c0001t0004g0102 a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0177 a0001c0001t0005g0005 a0001c0001t0005g0036 a0001c0001t0005g0078 a0001c0001t0005g0203 a0001c0001t0006g0140 a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0009g0171 a0001c0001t0011g0038 a0001c0001t0013g0052 a0001c0001t0016g0097 a0001c0001t0027g0176 a0001c0001t0037g0110 a0001c0001t0046g0206	68	450	0.1511	12	c.-11 others(23): Show c.-1132_-1121dupTAATAATAATAA	ASB8	ENSG00000177981.11	transcript	ENST00000317697.8	protein_coding		1031		chr12	TogoVar
ASB9_chrX_15238987_15275083	15270081	T T	TACACACA others(5): Show TACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp1 HG02273.hp2 HG02976.hp2 others(3): Show HG00738.hp1 HG02273.hp2 HG02976.hp2 HG03209.hp1 NA18965.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0019 a0001c0001t0010 a0001c0001t0019	a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0262 others(3): Show a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0262 a0001c0001t0010g0263 a0001c0001t0010g0265 a0001c0001t0019g0264	6	336	0.0179	12	c.-21 others(21): Show c.-219_-208dupGTGTGTGTGTGT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/7	208		chrX	TogoVar
ASCC1_chr10_72091032_72221276	72093633	A A	ATTATTTA others(5): Show ATTATTTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02976.hp1 NA18522.hp2 others(1): Show HG00735.hp2 HG02976.hp1 NA18522.hp2 NA18971.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0006c0006t0002 a0001c0001t0001 a0002c0002t0001 a0006c0006t0002	a0001c0001t0001g0003 a0001c0001t0001g0007 a0002c0002t0001g0165 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0002c0002t0001g0165 a0006c0006t0002g0043	4	216	0.0185	12	c.37 others(23): Show c.3700_*3701insATAAATAAATAA	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		2398		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72131439	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02818.hp2 others(8): Show HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 NA19003.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0149 others(8): Show a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0149 a0001c0001t0002g0143 a0001c0001t0008g0053 a0002c0002t0001g0166 a0002c0002t0001g0180 a0002c0002t0001g0188 a0002c0002t0001g0193 a0002c0002t0001g0204 a0002c0002t0001g0216	11	216	0.0509	12	c.871 others(29): Show c.871+1606_871+1617dupGTGTGTGTGTGT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	8/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72141036	T T	TATAGACA others(5): Show TATAGACAGATAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0197 a0008c0007t0001g0197	1	216	0.0046	12	c.747 others(29): Show c.747-7856_747-7855insCTATCTGTCTAT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	7/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72141036	T T	TATAGATA others(5): Show TATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01978.hp1 HG02630.hp1 others(5): Show HG01884.hp2 HG01978.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 NA19085.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0046 a0001c0001t0002g0064 a0001c0001t0002g0120 others(5): Show a0001c0001t0001g0046 a0001c0001t0002g0064 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0154 a0002c0002t0001g0182 a0002c0002t0001g0192	8	216	0.0370	12	c.747 others(29): Show c.747-7867_747-7856dupCTATCTATCTAT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	7/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72162942	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG06807.hp2 HG03540.hp1 HG06807.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0002 a0009c0009t0007 a0001c0001t0002 a0009c0009t0007	a0001c0001t0002g0152 a0009c0009t0007g0160 a0001c0001t0002g0152 a0009c0009t0007g0160	2	216	0.0093	12	c.490 others(29): Show c.490-1269_490-1268insTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	5/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72197906	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01069.hp1 others(53): Show HG00438.hp2 HG00609.hp2 HG01069.hp1 HG01433.hp2 HG02040.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18951.hp2 NA18959.hp2 NA18971.hp2 NA18975.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0003c0003t0002 a0004c0005t0005 a0005c0004t0005 a0008c0007t0001	a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0158 others(53): Show a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0002c0002t0001g0004 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0216 a0002c0002t0002g0175 a0002c0002t0004g0172 a0002c0002t0004g0199 a0002c0002t0004g0201 a0002c0002t0004g0205 a0002c0002t0006g0170 a0002c0002t0006g0174 a0002c0002t0006g0191 a0002c0002t0007g0203 a0003c0003t0002g0144 a0003c0003t0002g0153 a0003c0003t0002g0156 a0004c0005t0005g0023 a0005c0004t0005g0189 a0005c0004t0005g0198 a0008c0007t0001g0197	56	216	0.2593	12	c.311 others(27): Show c.311-929_311-918dupATTTATTTATTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72213131	C C	CCTACAAT others(5): Show CCTACAATACACA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	216	0.0046	12	c.112 others(25): Show c.112+44_112+55dupTGTGTATTGTAG	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	2/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72220325	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02572.hp1 HG02723.hp2 others(5): Show HG01433.hp2 HG02572.hp1 HG02723.hp2 HG02895.hp2 HG03453.hp2 HG03471.hp1 HG06807.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0045 others(5): Show a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0045 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0003c0003t0002g0153 a0003c0003t0002g0156	8	216	0.0370	12	c.-41 others(23): Show c.-4164_-4153dupTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		4050		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0289 a0001c0001t0006g0289	1	372	0.0027	12	c.542 others(29): Show c.542-2342_542-2331dupGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19			chr22	TogoVar
ASCC2_chr22_29783611_29843274	29827756	C C	CAACACAC others(5): Show CAACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	372	0.0027	12	c.82- others(27): Show c.82-1977_82-1976insTGTGTGTGTGTT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	2/19			chr22	TogoVar
ASCC2_chr22_29783611_29843274	29827757	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18945.hp1 NA18998.hp2 HG02559.hp2 NA18945.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0002 a0001c0001t0011 a0002c0002t0002	a0001c0001t0011g0286 a0002c0002t0002g0099 a0002c0002t0002g0100 a0001c0001t0011g0286 a0002c0002t0002g0099 a0002c0002t0002g0100	3	372	0.0081	12	c.82- others(27): Show c.82-1989_82-1978dupGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	2/19			chr22	TogoVar
ASCC2_chr22_29783611_29843274	29838203	T T	TGCCGCCG others(5): Show TGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02683.hp1 NA19084.hp2 NA19086.hp2 HG02683.hp1 NA19084.hp2 NA19086.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0044 a0004c0004t0008g0045 a0004c0004t0008g0046 a0004c0004t0008g0044 a0004c0004t0008g0045 a0004c0004t0008g0046	3	372	0.0081	12	c.-55 others(19): Show c.-55_-44dupGGCGGCGGCGGC	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	1/20	5879		chr22	TogoVar
ASCC3_chr6_100503194_100886329	100560748	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01993.hp2 HG01496.hp1 HG01993.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0022 a0001c0002 a0005c0022	a0001c0002t0003 a0005c0022t0003 a0001c0002t0003 a0005c0022t0003	a0001c0002t0003g0099 a0005c0022t0003g0098 a0001c0002t0003g0099 a0005c0022t0003g0098	2	314	0.0064	12	c.555 others(33): Show c.5551-20373_5551-20362dupGTGTGTGTGTGT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	36/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100585660	T T	TTTTTATC others(5): Show TTTTTATCTCTGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp1 others(70): Show HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01099.hp1 HG01175.hp1 HG01192.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02129.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03490.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18946.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0017	a0001c0002 a0001c0019 a0001c0020 others(4): Show a0001c0002 a0001c0019 a0001c0020 a0004c0008 a0005c0022 a0008c0010 a0017c0031	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0013 a0001c0019t0012 a0001c0020t0003 a0004c0008t0002 a0004c0008t0003 a0005c0022t0003 a0008c0010t0003 a0017c0031t0003	a0001c0002t0001g0290 a0001c0002t0002g0083 a0001c0002t0002g0084 others(70): Show a0001c0002t0001g0290 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0142 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0137 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0153 a0001c0002t0006g0181 a0001c0002t0006g0183 a0001c0002t0006g0186 a0001c0002t0013g0121 a0001c0019t0012g0120 a0001c0020t0003g0134 a0004c0008t0002g0018 a0004c0008t0002g0020 a0004c0008t0003g0055 a0004c0008t0003g0057 a0004c0008t0003g0063 a0005c0022t0003g0098 a0008c0010t0003g0092 a0017c0031t0003g0110	73	314	0.2325	12	c.555 others(31): Show c.5550+3973_5550+3974insGCAGAGATAAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	36/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0285 a0003c0005t0001g0285	1	314	0.0032	12	c.478 others(31): Show c.4786-1655_4786-1644dupTATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar

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