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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARX_chrX_24998694_25020965	25018662	T T	TATATATA others(5): Show TATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03579.hp1 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	2	300	0.0067	12	c.-29 others(23): Show c.-2926_-2925insTTATATATATAT		ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding					2698		chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCAG others(5): Show TGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01261.hp1 HG02027.hp1 NA18974.hp1 others(2): Show HG01261.hp1 HG02027.hp1 NA18974.hp1 NA19005.hp1 NA19006.hp1	a0019 a0032 a0019 a0032	a0019c0018 a0032c0031 a0019c0018 a0032c0031	a0019c0018t0001 a0019c0018t0062 a0032c0031t0009 others(1): Show a0019c0018t0001 a0019c0018t0062 a0032c0031t0009 a0032c0031t0013	a0019c0018t0001g0017 a0019c0018t0001g0031 a0019c0018t0062g0106 others(2): Show a0019c0018t0001g0017 a0019c0018t0001g0031 a0019c0018t0062g0106 a0032c0031t0009g0049 a0032c0031t0013g0105	5	193	0.0259	12	c.228 others(19): Show c.228_239dupGCAGCAGCAGCA	p.Gln others(11): Show p.Gln77_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	T T	TGGCGGCG others(5): Show TGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG02055.hp1 HG02257.hp1 HG01081.hp2 HG02055.hp1 HG02257.hp1	a0044 a0048 a0056 a0044 a0048 a0056	a0044c0044 a0048c0053 a0056c0061 a0044c0044 a0048c0053 a0056c0061	a0044c0044t0007 a0048c0053t0007 a0056c0061t0010 a0044c0044t0007 a0048c0053t0007 a0056c0061t0010	a0044c0044t0007g0172 a0048c0053t0007g0171 a0056c0061t0010g0161 a0044c0044t0007g0172 a0048c0053t0007g0171 a0056c0061t0010g0161	3	193	0.0155	12	c.140 others(21): Show c.1409_1420dupGCGGCGGCGGCG	p.Gly others(13): Show p.Gly470_Gly473dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2547/10667	1421/2763	474/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67604198	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0044 a0044	a0044c0044 a0044c0044	a0044c0044t0007 a0044c0044t0007	a0044c0044t0007g0172 a0044c0044t0007g0172	1	193	0.0052	12	c.161 others(33): Show c.1617-39022_1617-39011dupGTGTGTGTGTGT		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTCTGTGT others(5): Show CTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02922.hp1 others(1): Show HG02451.hp2 HG02723.hp2 HG02922.hp1 HG03130.hp1	a0003 a0017 a0053 others(1): Show a0003 a0017 a0053 a0068	a0003c0004 a0017c0017 a0053c0060 others(1): Show a0003c0004 a0017c0017 a0053c0060 a0068c0083	a0003c0004t0036 a0017c0017t0006 a0053c0060t0039 others(1): Show a0003c0004t0036 a0017c0017t0006 a0053c0060t0039 a0068c0083t0037	a0003c0004t0036g0170 a0017c0017t0006g0151 a0053c0060t0039g0133 others(1): Show a0003c0004t0036g0170 a0017c0017t0006g0151 a0053c0060t0039g0133 a0068c0083t0037g0152	4	193	0.0207	12	c.260 others(29): Show c.2607+329_2607+330insCTGTGTGTGTGT		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0044 a0044	a0044c0044 a0044c0044	a0044c0044t0007 a0044c0044t0007	a0044c0044t0007g0172 a0044c0044t0007g0172	1	193	0.0052	12	c.260 others(29): Show c.2608-344_2608-333dupGTGTGTGTGTGT		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723520	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	193	0.0052	12	c.260 others(29): Show c.2608-157_2608-146dupACACACACACAC		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67728574	A A	AATATATA others(5): Show AATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG01169.hp1 others(7): Show HG00741.hp1 HG01099.hp1 HG01169.hp1 HG02735.hp1 HG02896.hp1 HG06807.hp1 NA18984.hp1 NA19005.hp1 NA19009.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 others(5): Show a0002 a0004 a0007 a0012 a0014 a0017 a0032 a0038	a0002c0002 a0004c0003 a0007c0006 others(5): Show a0002c0002 a0004c0003 a0007c0006 a0012c0011 a0014c0009 a0017c0017 a0032c0031 a0038c0038	a0002c0002t0009 a0004c0003t0009 a0007c0006t0009 others(5): Show a0002c0002t0009 a0004c0003t0009 a0007c0006t0009 a0012c0011t0019 a0014c0009t0009 a0017c0017t0019 a0032c0031t0009 a0038c0038t0047	a0002c0002t0009g0029 a0004c0003t0009g0080 a0007c0006t0009g0074 others(7): Show a0002c0002t0009g0029 a0004c0003t0009g0080 a0007c0006t0009g0074 a0007c0006t0009g0093 a0012c0011t0019g0126 a0014c0009t0009g0025 a0014c0009t0009g0038 a0017c0017t0019g0160 a0032c0031t0009g0049 a0038c0038t0047g0113	10	193	0.0518	12	c.47 others(23): Show c.4763_*4774dupTATATATATATA		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	8/8				4775	INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102871546	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03225.hp2 others(1): Show HG03041.hp1 HG03098.hp2 HG03225.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0004 a0001c0002t0024 a0001c0001t0028 a0001c0002t0004 a0001c0002t0024	a0001c0001t0028g0087 a0001c0002t0004g0057 a0001c0002t0004g0058 others(1): Show a0001c0001t0028g0087 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0024g0056	4	362	0.0111	12	c.171 others(27): Show c.171-881_171-870dupAAAAAAAAAAAA		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889598	C C	CCTTGCCT others(5): Show CCTTGCCTGTCTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	362	0.0028	12	c.886 others(27): Show c.886-945_886-944insTTGCCTGTCTGC		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889607	T T	TCTGCCTG others(5): Show TCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0171 a0001c0001t0021g0171	1	362	0.0028	12	c.886 others(27): Show c.886-927_886-926insGCCTGCCTGCCT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTTCCT others(5): Show GCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01106.hp1 others(10): Show HG00408.hp1 HG00642.hp1 HG01106.hp1 HG01255.hp1 NA18954.hp1 NA18965.hp2 NA18973.hp2 NA18975.hp1 NA18991.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0001 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0013 a0001c0001t0001g0281 a0001c0001t0001g0311 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0281 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0335 a0001c0001t0010g0146 a0001c0001t0011g0310	13	362	0.0359	12	c.886 others(27): Show c.886-909_886-898dupCCTTCCTTCCTT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102894352	G G	GGTGGAGG others(5): Show GGTGGAGGTTGCA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0142 a0001c0001t0015g0142	1	362	0.0028	12	c.102 others(31): Show c.1020+3678_1020+3689dupGAGGTTGCAGTG		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187084	C C	CCTCTCTC others(5): Show CCTCTCTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp2 NA18948.hp2 HG02027.hp2 NA18948.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0039 a0003c0003t0039 a0002c0001t0039 a0003c0003t0039	a0002c0001t0039g0327 a0003c0003t0039g0149 a0002c0001t0039g0327 a0003c0003t0039g0149	2	408	0.0049	12	c.21 others(21): Show c.219_*230dupAGAGAGAGAGAG		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21				230		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187116	T T	TCACATAC others(5): Show TCACATACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0110 a0008c0023t0110	a0008c0023t0110g0361 a0008c0023t0110g0361	1	408	0.0025	12	c.19 others(21): Show c.198_*199insTGTGTGTATGTG		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21				198		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50206537	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01981.hp2 HG02698.hp2 others(2): Show HG01515.hp2 HG01981.hp2 HG02698.hp2 HG03239.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0001 a0001c0002 a0001c0005 a0002c0001	a0001c0002t0077 a0001c0005t0117 a0002c0001t0008 others(2): Show a0001c0002t0077 a0001c0005t0117 a0002c0001t0008 a0002c0001t0018 a0002c0001t0042	a0001c0002t0077g0109 a0001c0005t0117g0266 a0002c0001t0008g0319 others(2): Show a0001c0002t0077g0109 a0001c0005t0117g0266 a0002c0001t0008g0319 a0002c0001t0018g0202 a0002c0001t0042g0331	5	408	0.0123	12	c.141 others(29): Show c.1415-452_1415-441dupGTGTGTGTGTGT		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	12/20						chr10	TogoVar
ASAH2_chr10_50179861_50256516	50212182	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03098.hp1 HG03834.hp2 others(5): Show HG01123.hp1 HG03098.hp1 HG03834.hp2 NA18522.hp1 NA18942.hp1 NA18997.hp2 NA19079.hp2 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0013 a0001c0002 a0004c0013	a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 others(2): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0082 a0004c0013t0005	a0001c0002t0003g0014 a0001c0002t0003g0088 a0001c0002t0005g0267 others(4): Show a0001c0002t0003g0014 a0001c0002t0003g0088 a0001c0002t0005g0267 a0001c0002t0013g0103 a0001c0002t0082g0080 a0004c0013t0005g0067 a0004c0013t0005g0068	8	408	0.0196	12	c.122 others(29): Show c.1227+778_1227+789dupGTGTGTGTGTGT		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	10/20						chr10	TogoVar
ASAP1_chr8_130047104_130448674	130064893	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	308	0.0033	12	c.270 others(31): Show c.2702-3836_2702-3825dupCACACACACACA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070902	A A	AGGGAGAG others(5): Show AGGGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02922.hp2 others(1): Show HG02280.hp2 HG02451.hp1 HG02922.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0006g0306 others(1): Show a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0307	4	308	0.0130	12	c.270 others(31): Show c.2701+5434_2701+5445dupCCTCTCTCTCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071009	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04184.hp2 HG06807.hp1 others(2): Show HG03831.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0032 a0001c0001t0001 a0001c0001t0013 a0001c0001t0032	a0001c0001t0001g0048 a0001c0001t0001g0243 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0013g0302 a0001c0001t0032g0297	5	308	0.0162	12	c.270 others(31): Show c.2701+5338_2701+5339insTCTCTCTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071011	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01123.hp2 HG02004.hp2 others(9): Show HG00609.hp2 HG01123.hp2 HG02004.hp2 HG02071.hp1 HG03710.hp1 NA18960.hp1 NA18963.hp1 NA18973.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0024	a0001c0001t0001g0056 a0001c0001t0001g0196 a0001c0001t0002g0044 others(9): Show a0001c0001t0001g0056 a0001c0001t0001g0196 a0001c0001t0002g0044 a0001c0001t0002g0162 a0001c0001t0002g0176 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0017g0198 a0001c0001t0024g0209	12	308	0.0390	12	c.270 others(31): Show c.2701+5325_2701+5336dupTCTCTCTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072791	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	308	0.0033	12	c.270 others(31): Show c.2701+3556_2701+3557insCACACACACACA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02897.hp2 HG02055.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0255 a0001c0001t0001g0159 a0001c0001t0001g0255	2	308	0.0065	12	c.270 others(31): Show c.2701+3523_2701+3524insGCACACACACAC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130074486	C C	CACACACA others(5): Show CACACACACAGAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	308	0.0033	12	c.270 others(31): Show c.2701+1861_2701+1862insCTCTGTGTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp2 HG02572.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0254 a0001c0001t0021g0263 a0001c0001t0001g0254 a0001c0001t0021g0263	2	308	0.0065	12	c.240 others(31): Show c.2402-9601_2402-9590dupAAAAAAAAAAAA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130131153	A A	AAAACAAA others(5): Show AAAACAAACAAAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	308	0.0033	12	c.121 others(31): Show c.1218-3075_1218-3064dupGTTTGTTTGTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	15/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256738	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01071.hp1 NA18945.hp2 HG00609.hp2 HG01071.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0211 a0001c0001t0002g0225 a0001c0001t0002g0183 a0001c0001t0002g0211 a0001c0001t0002g0225	3	308	0.0097	12	c.187 others(31): Show c.187-19745_187-19744insATATATATATAT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130268490	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19001.hp1 NA19003.hp2 others(1): Show NA18975.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0051 a0002c0002t0003g0247 a0002c0002t0003g0248 others(1): Show a0001c0001t0001g0051 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0252	4	308	0.0130	12	c.187 others(31): Show c.187-31508_187-31497dupGTGTGTGTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276687	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0255 a0001c0001t0001g0256	2	308	0.0065	12	c.187 others(31): Show c.187-39705_187-39694dupGTGTGTGTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACTC others(5): Show ACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18975.hp2 NA18998.hp1 others(1): Show HG01517.hp1 NA18975.hp2 NA18998.hp1 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0247 a0002c0002t0003g0248 others(1): Show a0002c0002t0003g0082 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0283	4	308	0.0130	12	c.187 others(31): Show c.187-39735_187-39734insAGAGAGAGTGTG		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(5): Show TCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0022	1	308	0.0033	12	c.187 others(31): Show c.187-39767_187-39766insGGAGAGAGAGAG		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130284842	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0232 a0001c0009t0001g0232	1	308	0.0033	12	c.187 others(31): Show c.187-47860_187-47849dupGTGTGTGTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300113	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18946.hp1 NA19090.hp1 HG03540.hp1 NA18946.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0179 a0001c0001t0002g0193 a0001c0005t0001g0166 a0001c0001t0002g0179 a0001c0001t0002g0193 a0001c0005t0001g0166	3	308	0.0097	12	c.186 others(31): Show c.186+57892_186+57903dupGTGTGTGTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300149	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	308	0.0033	12	c.186 others(31): Show c.186+57867_186+57868insCTCTCTCTCTCT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACAGA others(5): Show CACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02523.hp1 HG03654.hp2 others(5): Show HG00597.hp1 HG02523.hp1 HG03654.hp2 HG03704.hp2 HG04199.hp1 NA18969.hp2 NA19002.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0113 a0002c0002t0003g0117 a0002c0002t0003g0128 others(5): Show a0002c0002t0003g0113 a0002c0002t0003g0117 a0002c0002t0003g0128 a0002c0002t0003g0130 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0258 a0002c0002t0003g0284	8	308	0.0260	12	c.186 others(31): Show c.186+57863_186+57864insCTCTCTCTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACAGAGA others(5): Show CACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18948.hp1 HG01168.hp2 HG01169.hp2 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0275 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0003g0275 a0002c0002t0004g0230 a0002c0002t0004g0231	3	308	0.0097	12	c.186 others(31): Show c.186+57863_186+57864insCTCTCTCTCTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02293.hp1 NA18973.hp1 others(2): Show HG01934.hp2 HG02293.hp1 NA18973.hp1 NA18985.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0001c0001t0001 a0001c0001t0002 a0002c0002t0004	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0002g0044 a0002c0002t0004g0111	5	308	0.0162	12	c.186 others(31): Show c.186+57852_186+57863dupCTCTCTCTCTCT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130311761	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00642.hp1 others(40): Show HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01123.hp1 HG01255.hp1 HG01978.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp1 HG03139.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18940.hp2 NA18945.hp1 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18966.hp1 NA19010.hp1 NA19030.hp1 NA19063.hp2 NA19065.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0011	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0035 others(40): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0228 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0211 a0001c0001t0007g0004 a0001c0001t0021g0263 a0001c0001t0025g0279 a0001c0001t0028g0088 a0001c0009t0001g0232 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0234 a0002c0002t0001g0269 a0002c0002t0002g0033 a0002c0002t0002g0265 a0002c0002t0002g0270 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0002t0011g0235	43	308	0.1396	12	c.186 others(31): Show c.186+46244_186+46255dupTTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130311775	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18950.hp2 NA19074.hp1 HG02040.hp1 NA18950.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0160 a0002c0003t0001g0030 a0002c0003t0001g0032 a0002c0002t0001g0160 a0002c0003t0001g0030 a0002c0003t0001g0032	3	308	0.0097	12	c.186 others(31): Show c.186+46241_186+46242insGTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP2_chr2_9201812_9410678	9202482	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0053 a0002c0001t0001g0053	1	210	0.0048	12	c.-46 others(23): Show c.-4623_-4622insAAAAAAAAAAAC		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					4329		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0210 a0001c0003t0001g0210	1	210	0.0048	12	c.127 others(31): Show c.127-25080_127-25079insAAAAAATATATA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9286447	A A	AAAATATA others(5): Show AAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0108 a0002c0008t0001g0108	1	210	0.0048	12	c.199 others(29): Show c.199+7059_199+7060insAATATATATATA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9361974	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG01175.hp1 others(4): Show HG00280.hp1 HG01106.hp2 HG01175.hp1 HG01496.hp1 HG01934.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0001g0181 others(4): Show a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0001g0181 a0001c0002t0002g0096 a0001c0002t0002g0129 a0001c0002t0002g0162 a0001c0002t0002g0187	7	210	0.0333	12	c.146 others(31): Show c.1461+3112_1461+3123dupGTGTGTGTGTGT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	15/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9387213	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01884.hp2 others(10): Show HG00639.hp1 HG00738.hp1 HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0003t0007 a0001c0004t0005 a0001c0003t0004 a0001c0003t0007 a0001c0004t0005	a0001c0003t0004g0200 a0001c0003t0007g0170 a0001c0004t0005g0010 others(10): Show a0001c0003t0004g0200 a0001c0003t0007g0170 a0001c0004t0005g0010 a0001c0004t0005g0021 a0001c0004t0005g0034 a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0004t0005g0185 a0001c0004t0005g0192 a0001c0004t0005g0194 a0001c0004t0005g0195 a0001c0004t0005g0196 a0001c0004t0005g0201	13	210	0.0619	12	c.213 others(31): Show c.2131-1078_2131-1067dupAAAAAAAAAAAA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397727	G G	GAGATATA others(5): Show GAGATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0028 a0001c0004t0005g0028	1	210	0.0048	12	c.268 others(31): Show c.2685-2295_2685-2294insGATATATATATA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0176 a0001c0004t0005g0176	1	210	0.0048	12	c.268 others(31): Show c.2685-2272_2685-2271insATATATATTTTT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23467173	C C	CATTATTA others(5): Show CATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	346	0.0029	12	c.130 others(31): Show c.130-10991_130-10980dupAATAATAATAAT		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24						chr1	TogoVar
ASB11_chrX_15276697_15320640	15305597	T T	TTAGATAG others(5): Show TTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03834.hp1 NA18946.hp1 HG03704.hp2 HG03834.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0157 a0001c0001t0001g0224 a0001c0001t0001g0225	3	306	0.0098	12	c.182 others(29): Show c.182-2802_182-2791dupTCTATCTATCTA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6						chrX	TogoVar
ASB13_chr10_5633867_5671595	5652023	A A	ACCACACA others(5): Show ACCACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18998.hp1 NA19070.hp1 others(1): Show NA18944.hp2 NA18998.hp1 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0201 a0001c0001t0005g0191 a0001c0001t0005g0233 others(1): Show a0001c0001t0001g0201 a0001c0001t0005g0191 a0001c0001t0005g0233 a0001c0001t0005g0236	4	446	0.0090	12	c.232 others(27): Show c.232-661_232-660insGTGTGTGTGTGG		ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	2/5						chr10	TogoVar
ASB14_chr3_57263342_57297685	57284088	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02886.hp2 HG02129.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0003g0101 a0001c0001t0001g0051 a0001c0001t0003g0101	2	336	0.0060	12	c.470 others(27): Show c.470-650_470-649insCACACACACACA		ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10						chr3	TogoVar

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