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
ASAP1_chr8_130047104_130448674	130049822	CACATGGG others(13): Show CACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG02109.hp1 others(6): Show HG01243.hp1 HG01261.hp2 HG02109.hp1 HG02630.hp1 HG02717.hp2 HG03130.hp2 HG03453.hp1 HG04199.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 a0001c0001t0001 a0001c0001t0013 a0002c0002t0001	a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0171 others(6): Show a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0201 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0013g0308 a0002c0002t0001g0069	9	308	0.0292	-20	c.48 others(31): Show c.4889_*4908delATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2281		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049868	GGGGGCAG others(13): Show GGGGGCAGAGGGGGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG02615.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0278 a0001c0001t0008g0011 a0001c0001t0001g0278 a0001c0001t0008g0011	2	308	0.0065	-20	c.48 others(31): Show c.4843_*4862delATGTGTTCCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2235		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049891	GGGCAGAG others(13): Show GGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02280.hp1 NA18944.hp1 HG00609.hp2 HG02280.hp1 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0002c0002t0003 a0002c0003t0001 a0001c0001t0002 a0002c0002t0003 a0002c0003t0001	a0001c0001t0002g0211 a0002c0002t0003g0119 a0002c0003t0001g0022 a0001c0001t0002g0211 a0002c0002t0003g0119 a0002c0003t0001g0022	3	308	0.0097	-20	c.48 others(31): Show c.4820_*4839delTCCATGTGTTCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2212		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049963	GAATACAT others(13): Show GAATACATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	308	0.0033	-20	c.47 others(31): Show c.4748_*4767delTCCTCTGCCCCCCATGTATT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2140		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050013	GGGGGGCA others(13): Show GGGGGGCAGAGGGGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	308	0.0033	-20	c.46 others(31): Show c.4698_*4717delATGTGTTCCCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2090		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050029	CACATGGG others(13): Show CACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	308	0.0033	-20	c.46 others(31): Show c.4682_*4701delATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2074		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050085	GGAGAACA others(13): Show GGAGAACACATGGGGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	308	0.0033	-20	c.46 others(31): Show c.4626_*4645delTCTGCCCCCCATGTGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2018		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050133	CACATGGG others(13): Show CACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0088 a0001c0001t0028g0088	1	308	0.0033	-20	c.45 others(31): Show c.4578_*4597delATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1970		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050158	GGGGGGCA others(13): Show GGGGGGCAGAGGAGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA19074.hp2 NA18950.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0128 a0002c0002t0003g0138 a0002c0002t0003g0128 a0002c0002t0003g0138	2	308	0.0065	-20	c.45 others(31): Show c.4553_*4572delATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1945		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070848	GGAGAGAG others(13): Show GGAGAGAGAGGGAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01256.hp2 others(2): Show HG00558.hp1 HG00558.hp2 HG01256.hp2 HG01258.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0005t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0005 a0002c0002t0003	a0001c0001t0001g0205 a0001c0001t0002g0202 a0001c0001t0002g0204 others(2): Show a0001c0001t0001g0205 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0005t0005g0285 a0002c0002t0003g0127	5	308	0.0162	-20	c.270 others(39): Show c.2701+5480_2701+5499delTCCCTCTCTCCCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130097126	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01167.hp1 HG01169.hp1 others(27): Show HG00099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02280.hp2 HG02451.hp1 HG02738.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03669.hp2 HG03710.hp2 NA18943.hp1 NA18946.hp2 NA18969.hp1 NA18984.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0002 a0001c0013 a0002c0002	a0001c0013t0001 a0002c0002t0001 a0002c0002t0005 others(5): Show a0001c0013t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0013 a0002c0002t0026 a0002c0002t0029	a0001c0013t0001g0156 a0002c0002t0001g0009 a0002c0002t0001g0066 others(27): Show a0001c0013t0001g0156 a0002c0002t0001g0009 a0002c0002t0001g0066 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0276 a0002c0002t0005g0291 a0002c0002t0006g0303 a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0002t0010g0050 a0002c0002t0013g0301 a0002c0002t0026g0062 a0002c0002t0029g0095	30	308	0.0974	-20	c.240 others(39): Show c.2402-5003_2402-4984delTTTTTTTTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130107515	AATGTATG others(13): Show AATGTATGTATGTATGTATGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp1 others(58): Show HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02738.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03669.hp1 HG03710.hp2 HG03942.hp2 HG04228.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18975.hp1 NA18984.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19063.hp2 NA19065.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0013 a0002c0002t0026 a0002c0002t0029 a0002c0011t0001	a0002c0002t0001g0009 a0002c0002t0001g0061 a0002c0002t0001g0063 others(58): Show a0002c0002t0001g0009 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0200 a0002c0002t0001g0234 a0002c0002t0001g0240 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0276 a0002c0002t0002g0033 a0002c0002t0002g0265 a0002c0002t0002g0270 a0002c0002t0005g0291 a0002c0002t0006g0303 a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0002t0010g0050 a0002c0002t0013g0301 a0002c0002t0026g0062 a0002c0002t0029g0095 a0002c0011t0001g0074	61	308	0.1981	-20	c.240 others(39): Show c.2401+4559_2401+4578delACATACATACATACATACAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130215975	AAAAGGAA others(13): Show AAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG02055.hp2 others(5): Show HG01074.hp2 HG01167.hp2 HG02055.hp2 HG02886.hp2 HG02970.hp1 HG03130.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0001 a0001c0005t0005 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0005	a0001c0001t0001g0016 a0001c0005t0001g0166 a0001c0005t0005g0285 others(5): Show a0001c0001t0001g0016 a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0293	8	308	0.0260	-20	c.260 others(37): Show c.260-1294_260-1275delCCTTTCCTTTCCTTTCCTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256739	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03669.hp1 HG02723.hp2 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0022 a0002c0002t0001 a0002c0002t0022	a0002c0002t0001g0146 a0002c0002t0022g0242 a0002c0002t0001g0146 a0002c0002t0022g0242	2	308	0.0065	-20	c.187 others(39): Show c.187-19765_187-19746delTATATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262412	AAAAAAGA others(13): Show AAAAAAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	308	0.0033	-20	c.187 others(39): Show c.187-25438_187-25419delCTCTCTCTCTCTCTCTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262416	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_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.187 others(39): Show c.187-25442_187-25423delCTCTCTCTCTCTCTCTCTCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASB13_chr10_5633867_5671595	5652021	AAAAACCA others(13): Show AAAAACCACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02055.hp2 others(2): Show HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02486.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0023 a0001c0002t0009g0384 a0001c0002t0009g0388 others(1): Show a0001c0002t0009g0023 a0001c0002t0009g0384 a0001c0002t0009g0388 a0001c0002t0009g0389	5	446	0.0112	-20	c.232 others(35): Show c.232-678_232-659delGTGTGTGTGTGTGTGGTTTT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	2/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5653657	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0416 a0001c0001t0027g0416	1	446	0.0022	-20	c.44- others(33): Show c.44-627_44-608delAAATAAATAAATAAATAAAT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	GGAGAAGA others(13): Show GGAGAAGAGAAGAGAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02300.hp2 HG02738.hp1 others(2): Show HG01070.hp2 HG02300.hp2 HG02738.hp1 NA18973.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0003g0276 others(2): Show a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0003g0276 a0001c0001t0005g0277 a0001c0001t0005g0280	5	446	0.0112	-20	c.43+ others(35): Show c.43+3924_43+3943delTTCTCTTCTCTTCTCTTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB15_chr7_123596821_123644481	123620507	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18982.hp1 NA18988.hp1 HG00733.hp2 NA18982.hp1 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0002 a0001c0001t0005 a0002c0003t0002	a0001c0001t0005g0079 a0001c0001t0005g0083 a0002c0003t0002g0130 a0001c0001t0005g0079 a0001c0001t0005g0083 a0002c0003t0002g0130	3	380	0.0079	-20	c.451 others(37): Show c.451+2799_451+2818delATATATATATATATATATAT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620536	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0149 a0004c0004t0003g0149	1	380	0.0026	-20	c.451 others(37): Show c.451+2801_451+2820delATATATATATATATATATTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123623927	AAAGAAAA others(13): Show AAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0346 a0001c0001t0003g0346	1	380	0.0026	-20	c.452 others(35): Show c.452-639_452-620delGAAAAGAAAGAAAGAAAGAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123623931	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01261.hp1 others(11): Show HG00735.hp1 HG00738.hp1 HG01261.hp1 HG01978.hp1 HG02055.hp1 HG02451.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp2 NA19000.hp2 NA19012.hp2 NA20805.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0012	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0009c0013 a0012c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0027 a0001c0002t0002 a0002c0003t0002 a0009c0013t0004 a0012c0020t0009	a0001c0001t0003g0312 a0001c0001t0004g0160 a0001c0001t0005g0026 others(11): Show a0001c0001t0003g0312 a0001c0001t0004g0160 a0001c0001t0005g0026 a0001c0001t0005g0071 a0001c0001t0005g0156 a0001c0001t0005g0174 a0001c0001t0007g0091 a0001c0001t0011g0161 a0001c0001t0015g0238 a0001c0001t0027g0029 a0001c0002t0002g0284 a0002c0003t0002g0218 a0009c0013t0004g0164 a0012c0020t0009g0057	14	380	0.0368	-20	c.452 others(35): Show c.452-592_452-573delAAGAAAGAAAGAAAGAAAGA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB18_chr2_236188459_236269406	236252267	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02809.hp1 others(2): Show HG02257.hp1 HG02615.hp2 HG02809.hp1 HG03540.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0001 a0001c0003t0002 a0003c0004t0004 a0001c0003t0001 a0001c0003t0002 a0003c0004t0004	a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 others(2): Show a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0002g0231 a0003c0004t0004g0234	5	250	0.0200	-20	c.206 others(39): Show c.206-10885_206-10866delTGTGTGTGTGTGTGTGTGTG	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5			chr2	TogoVar
ASB4_chr7_95480943_95545233	95515267	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19009.hp1 NA19066.hp2 NA18975.hp2 NA19009.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0348 a0001c0001t0001g0361 a0001c0001t0001g0362	3	388	0.0077	-20	c.488 others(39): Show c.488-12513_488-12494delTCTTTCTTTCTTTCTTTCTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515304	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	388	0.0026	-20	c.488 others(39): Show c.488-12505_488-12486delTCTTTCTTTCTTCCTTCCTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176219575	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18995.hp2 HG03453.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0221 a0001c0001t0001g0081 a0001c0001t0001g0221	2	410	0.0049	-20	c.670 others(37): Show c.670+1560_670+1579delATATATATATATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72218161	AAAAAATA others(13): Show AAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00609.hp1 others(4): Show HG00140.hp1 HG00140.hp2 HG00609.hp1 NA18975.hp2 NA18977.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0002g0005 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0122	7	216	0.0324	-20	c.-20 others(31): Show c.-2008_-1989delATATATATATATATATTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1886		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218163	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01496.hp1 others(5): Show HG00735.hp2 HG01106.hp2 HG01496.hp1 HG01993.hp2 HG02273.hp2 HG02683.hp1 HG03017.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0060 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0163 a0001c0001t0002g0054 a0001c0001t0002g0055	8	216	0.0370	-20	c.-20 others(31): Show c.-2010_-1991delATATATATATATATATATTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1888		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218165	AATATATA others(13): Show AATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02615.hp2 HG02818.hp1 others(11): Show HG01081.hp1 HG02615.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 NA18522.hp2 NA18959.hp1 NA19043.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0006c0006t0002 a0001c0001t0001 a0001c0001t0002 a0006c0006t0002	a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0081 others(11): Show a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0002g0031 a0001c0001t0002g0124 a0001c0001t0002g0129 a0006c0006t0002g0043	14	216	0.0648	-20	c.-20 others(31): Show c.-2012_-1993delATATATATATATATATATAT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1890		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02717.hp1 HG03098.hp2 HG00741.hp1 HG02717.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0015g0349 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0015g0349	3	372	0.0081	-20	c.542 others(37): Show c.542-2350_542-2331delGTGTGTGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100793733	GAAAGGTT others(13): Show GAAAGGTTAAGTAACTTGCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0015 a0016 a0017 a0019 a0021 a0022	a0001c0001 a0001c0002 a0001c0011 others(25): Show a0001c0001 a0001c0002 a0001c0011 a0001c0015 a0001c0019 a0001c0020 a0001c0029 a0001c0034 a0002c0003 a0003c0004 a0003c0005 a0003c0026 a0004c0008 a0004c0013 a0005c0007 a0005c0022 a0006c0009 a0006c0027 a0008c0010 a0009c0036 a0010c0035 a0011c0028 a0015c0030 a0016c0017 a0017c0031 a0019c0016 a0021c0014 a0022c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0011t0001 a0001c0011t0002 a0001c0015t0001 a0001c0019t0012 a0001c0020t0003 a0001c0029t0001 a0001c0034t0001 a0002c0003t0002 a0002c0003t0018 a0003c0004t0004 a0003c0005t0002 a0003c0026t0001 a0004c0008t0002 a0004c0008t0003 a0004c0013t0003 a0005c0007t0001 a0005c0007t0008 a0005c0022t0003 a0006c0009t0001 a0006c0009t0002 a0006c0009t0004 a0006c0027t0001 a0008c0010t0003 a0008c0010t0007 a0009c0036t0002 a0010c0035t0002 a0011c0028t0002 a0015c0030t0001 a0016c0017t0003 a0017c0031t0003 a0019c0016t0002 a0021c0014t0014 a0022c0037t0002	a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(284): Show a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0004g0188 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0010g0001 a0001c0001t0015g0300 a0001c0001t0016g0230 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 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 a0001c0002t0011g0003 a0001c0002t0013g0121 a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 a0001c0015t0001g0281 a0001c0019t0012g0120 a0001c0020t0003g0134 a0001c0029t0001g0303 a0001c0034t0001g0257 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0064 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0018g0311 a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0004t0004g0177 a0003c0004t0004g0178 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0182 a0003c0004t0004g0184 a0003c0004t0004g0185 a0003c0004t0004g0187 a0003c0004t0004g0189 a0003c0004t0004g0190 a0003c0004t0004g0191 a0003c0004t0004g0193 a0003c0004t0004g0194 a0003c0004t0004g0195 a0003c0004t0004g0199 a0003c0004t0004g0200 a0003c0005t0002g0131 a0003c0005t0002g0147 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152 a0003c0005t0002g0154 a0003c0005t0002g0155 a0003c0005t0002g0156 a0003c0026t0001g0259 a0004c0008t0002g0018 a0004c0008t0002g0020 a0004c0008t0003g0055 a0004c0008t0003g0057 a0004c0008t0003g0063 a0004c0013t0003g0040 a0004c0013t0003g0065 a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 a0005c0007t0008g0309 a0005c0007t0008g0310 a0005c0022t0003g0098 a0006c0009t0001g0307 a0006c0009t0002g0111 a0006c0009t0004g0192 a0006c0027t0001g0305 a0008c0010t0003g0092 a0008c0010t0007g0002 a0008c0010t0007g0004 a0009c0036t0002g0049 a0010c0035t0002g0044 a0011c0028t0002g0074 a0015c0030t0001g0233 a0016c0017t0003g0133 a0017c0031t0003g0110 a0019c0016t0002g0160 a0021c0014t0014g0242 a0022c0037t0002g0056	287	314	0.9140	-20	c.139 others(39): Show c.1395+4960_1395+4979delAGGCAAGTTACTTAACCTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	8/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100801031	CTAAAGCA others(13): Show CTAAAGCAAATAAAGCAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03516.hp1 others(1): Show HG02615.hp1 HG02809.hp2 HG03516.hp1 HG03579.hp2	a0007 a0018 a0007 a0018	a0007c0012 a0007c0025 a0018c0032 a0007c0012 a0007c0025 a0018c0032	a0007c0012t0009 a0007c0025t0017 a0018c0032t0019 a0007c0012t0009 a0007c0025t0017 a0018c0032t0019	a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 others(1): Show a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 a0018c0032t0019g0314	4	314	0.0127	-20	c.923 others(35): Show c.923-547_923-528delCTTTTGCTTTATTTGCTTTA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	5/41			chr6	TogoVar
ASDURF_chr2_189656459_189671401	189665598	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG02257.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	340	0.0059	-20	c.220 others(35): Show c.220+177_220+196delATATATATATATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASGR2_chr17_7096326_7119822	7118481	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG02559.hp2 HG03471.hp1 others(5): Show HG01258.hp1 HG02559.hp2 HG03471.hp1 NA18949.hp2 NA19000.hp2 NA19030.hp2 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0161 a0001c0001t0002g0057 a0001c0001t0002g0064 others(5): Show a0001c0001t0001g0161 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0006g0005 a0001c0001t0006g0116	8	432	0.0185	-20	c.-39 others(31): Show c.-3957_-3938delTCCTTCCTTCCTTCCTTCCT	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3660		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155332458	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0044 a0001c0001t0009g0043 a0001c0001t0009g0044	2	182	0.0110	-20	c.51 others(31): Show c.5182_*5201delTATATATATATATATATACA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding		2809		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19002.hp2 HG02723.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0104 a0001c0001t0001g0066 a0001c0001t0001g0104	2	182	0.0110	-20	c.600 others(39): Show c.6008+4138_6008+4157delATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASIC2_chr17_33008087_33298295	33192384	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00733.hp2 others(80): Show HG00280.hp1 HG00423.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18968.hp1 NA18985.hp2 NA18990.hp1 NA18993.hp1 NA19000.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19081.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(28): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0010 a0001c0004t0016 a0001c0005t0006 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0010 a0002c0003t0030 a0002c0003t0031	a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0032 others(80): Show a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0054 a0001c0001t0003g0066 a0001c0001t0003g0079 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0029 a0001c0001t0004g0039 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0067 a0001c0001t0006g0025 a0001c0001t0006g0045 a0001c0001t0007g0227 a0001c0001t0007g0230 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0007g0236 a0001c0001t0007g0237 a0001c0001t0007g0239 a0001c0001t0009g0012 a0001c0001t0009g0061 a0001c0001t0013g0016 a0001c0001t0014g0046 a0001c0001t0014g0047 a0001c0001t0022g0072 a0001c0001t0023g0084 a0001c0001t0026g0092 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0002g0095 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0125 a0001c0002t0002g0133 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0005g0101 a0001c0002t0005g0108 a0001c0002t0008g0106 a0001c0002t0010g0134 a0001c0002t0012g0089 a0001c0002t0015g0087 a0001c0004t0001g0141 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0165 a0001c0004t0001g0168 a0001c0004t0002g0142 a0001c0004t0002g0150 a0001c0004t0002g0155 a0001c0004t0002g0161 a0001c0004t0004g0008 a0001c0004t0008g0154 a0001c0004t0008g0171 a0001c0004t0010g0151 a0001c0004t0016g0148 a0001c0005t0006g0082 a0001c0005t0006g0083 a0002c0003t0001g0181 a0002c0003t0001g0195 a0002c0003t0001g0197 a0002c0003t0001g0202 a0002c0003t0001g0208 a0002c0003t0001g0212 a0002c0003t0001g0216 a0002c0003t0001g0219 a0002c0003t0002g0180 a0002c0003t0002g0193 a0002c0003t0002g0214 a0002c0003t0005g0184 a0002c0003t0005g0205 a0002c0003t0005g0210 a0002c0003t0010g0207 a0002c0003t0030g0220 a0002c0003t0031g0222	83	240	0.3458	-20	c.709 others(39): Show c.709-80337_709-80318delGTTTTGTTTTGTTTTGTTTT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33232406	AATGGTAT others(13): Show AATGGTATGGTATGGTATGGT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18943.hp2 HG02027.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0003 a0001c0001t0026	a0001c0001t0003g0020 a0001c0001t0026g0092 a0001c0001t0003g0020 a0001c0001t0026g0092	2	240	0.0083	-20	c.708 others(39): Show c.708+58982_708+59001delACCATACCATACCATACCAT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33232426	TATGGTAT others(13): Show TATGGTATGGTATGGTATGGA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0051 a0001c0001t0013g0051	1	240	0.0042	-20	c.708 others(39): Show c.708+58962_708+58981delTCCATACCATACCATACCAT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33232446	AATGGTAT others(13): Show AATGGTATGGTATGGTATGGT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0011g0003 a0001c0001t0011g0004	2	240	0.0083	-20	c.708 others(39): Show c.708+58942_708+58961delACCATACCATACCATACCAT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC4_chr2_219509482_219543772	219534764	GCCATCCA others(13): Show GCCATCCATCCATCCATCCAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(176): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0007 a0011	a0001c0001 a0001c0002 a0001c0015 others(9): Show a0001c0001 a0001c0002 a0001c0015 a0001c0022 a0001c0024 a0001c0029 a0003c0004 a0003c0027 a0004c0028 a0005c0013 a0007c0030 a0011c0036	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0015t0001 a0001c0022t0001 a0001c0024t0001 a0001c0029t0001 a0003c0004t0001 a0003c0027t0001 a0004c0028t0001 a0005c0013t0001 a0007c0030t0001 a0011c0036t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(104): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0128 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0187 a0001c0002t0004g0001 a0001c0015t0001g0158 a0001c0022t0001g0218 a0001c0024t0001g0159 a0001c0029t0001g0122 a0003c0004t0001g0023 a0003c0027t0001g0132 a0004c0028t0001g0001 a0005c0013t0001g0046 a0007c0030t0001g0120 a0011c0036t0001g0001	179	372	0.4812	-20	c.107 others(37): Show c.1076-378_1076-359delCCATCCATCCATCCATCCAT	ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASMTL_chrX_1398139_1457909	1417755	CATGCTCC others(13): Show CATGCTCCATGTCACAGGTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(117): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0006 a0008 a0009 a0011 a0012 a0013 a0015 a0019 a0020 a0021 a0022	a0001c0001 a0001c0008 a0001c0035 others(20): Show a0001c0001 a0001c0008 a0001c0035 a0002c0004 a0002c0009 a0002c0012 a0002c0015 a0002c0034 a0003c0002 a0003c0005 a0003c0029 a0003c0044 a0006c0016 a0008c0018 a0009c0020 a0011c0023 a0012c0024 a0013c0036 a0015c0026 a0019c0021 a0020c0045 a0021c0019 a0022c0046	a0001c0001t0001 a0001c0008t0001 a0001c0035t0001 others(22): Show a0001c0001t0001 a0001c0008t0001 a0001c0035t0001 a0002c0004t0001 a0002c0009t0001 a0002c0012t0001 a0002c0015t0001 a0002c0034t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0005t0001 a0003c0029t0001 a0003c0044t0001 a0006c0016t0001 a0008c0018t0001 a0009c0020t0001 a0011c0023t0001 a0012c0024t0001 a0013c0036t0001 a0015c0026t0001 a0019c0021t0001 a0020c0045t0001 a0021c0019t0001 a0022c0046t0004	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(116): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0008t0001g0004 a0001c0008t0001g0032 a0001c0008t0001g0045 a0001c0008t0001g0088 a0001c0008t0001g0094 a0001c0008t0001g0127 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0035t0001g0122 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0004t0001g0096 a0002c0004t0001g0124 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0009t0001g0008 a0002c0012t0001g0074 a0002c0012t0001g0095 a0002c0012t0001g0103 a0002c0015t0001g0001 a0002c0034t0001g0136 a0003c0002t0001g0003 a0003c0002t0001g0012 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0071 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0130 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0001g0150 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0163 a0003c0002t0001g0165 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0002g0183 a0003c0002t0003g0100 a0003c0005t0001g0010 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0005t0001g0090 a0003c0005t0001g0097 a0003c0005t0001g0132 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0003c0029t0001g0151 a0003c0044t0001g0011 a0006c0016t0001g0166 a0006c0016t0001g0169 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0011c0023t0001g0155 a0012c0024t0001g0054 a0013c0036t0001g0147 a0015c0026t0001g0114 a0019c0021t0001g0101 a0020c0045t0001g0046 a0021c0019t0001g0067 a0022c0046t0004g0184	120	185	0.6487	-20	c.152 others(37): Show c.1522+198_1522+217delATACCTGTGACATGGAGCAT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1423597	CATCCACC others(13): Show CATCCACCCACCCATCTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02615.hp1 HG02896.hp2 others(3): Show HG00741.hp1 HG02615.hp1 HG02896.hp2 HG03195.hp2 HG03540.hp2 NA18906.hp2	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0043 a0001c0011 a0001c0042 others(1): Show a0000c0043 a0001c0011 a0001c0042 a0002c0033	a0000c0043t0001 a0001c0011t0001 a0001c0042t0001 others(1): Show a0000c0043t0001 a0001c0011t0001 a0001c0042t0001 a0002c0033t0001	a0000c0043t0001g0069 a0001c0011t0001g0014 a0001c0011t0001g0174 others(3): Show a0000c0043t0001g0069 a0001c0011t0001g0014 a0001c0011t0001g0174 a0001c0011t0001g0178 a0001c0042t0001g0005 a0002c0033t0001g0171	6	185	0.0324	-20	c.106 others(39): Show c.1061-1775_1061-1756delCAGCAGATGGGTGGGTGGAT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	8/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1646609	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03041.hp2 HG06807.hp2 HG02818.hp2 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0121 a0001c0001t0002g0145 a0001c0001t0003g0090 a0001c0001t0001g0121 a0001c0001t0002g0145 a0001c0001t0003g0090	3	223	0.0135	-20	c.35 others(31): Show c.3596_*3615delCCTTCCTTCCTTCCTTCCCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		3529		chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665598	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG02257.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	340	0.0059	-20	c.-93 others(35): Show c.-93+177_-93+196delATATATATATATATATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASNS_chr7_97846677_97877408	97861198	GAGACGGG others(13): Show GAGACGGGGTTTCACTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	436	0.0023	-20	c.488 others(37): Show c.488-1820_488-1801delAACACAGTGAAACCCCGTCT	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	4/12			chr7	TogoVar
ASPDH_chr19_50506603_50518913	50509952	CTGAGGCA others(13): Show CTGAGGCAGGAGAATGGCATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0024 a0008c0010t0001g0024	1	372	0.0027	-20	c.17 others(31): Show c.1758_*1777delCATGCCATTCTCCTGCCTCA	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding		1650		chr19	TogoVar
ASPHD2_chr22_26424260_26450015	26435710	TAAAAGAA others(13): Show TAAAAGAAAAGAAAAGAAAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(212): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0002t0034 a0001c0004t0001 a0001c0005t0001 a0001c0008t0005 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0212 a0001c0001t0003g0015 a0001c0001t0003g0148 a0001c0001t0005g0168 a0001c0001t0007g0013 a0001c0001t0007g0023 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0007g0152 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0022 a0001c0001t0012g0020 a0001c0001t0013g0015 a0001c0001t0015g0002 a0001c0001t0015g0021 a0001c0001t0017g0001 a0001c0001t0019g0023 a0001c0001t0020g0128 a0001c0001t0027g0140 a0001c0001t0029g0013 a0001c0001t0033g0031 a0001c0001t0039g0086 a0001c0001t0040g0122 a0001c0001t0042g0003 a0001c0001t0043g0078 a0001c0002t0034g0088 a0001c0004t0001g0011 a0001c0004t0001g0123 a0001c0005t0001g0002 a0001c0008t0005g0169 a0004c0007t0001g0062	215	428	0.5023	-20	c.886 others(37): Show c.886+1244_886+1263delGAAAAGAAAAGAAAAGAAAA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26438562	TATACACA others(13): Show TATACACATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01496.hp2 HG01978.hp2 others(2): Show HG00544.hp2 HG01496.hp2 HG01978.hp2 NA18964.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0019 a0001c0001t0001g0094	5	428	0.0117	-20	c.887 others(37): Show c.887-3891_887-3872delCATACATATATATACATACA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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