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
ASGR2_chr17_7096326_7119822	7103829	G G	GTGCAGGT others(9): Show GTGCAGGTTTGTTACAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	432	0.0023	16	c.649 others(33): Show c.649-1649_649-1634dupATGTAACAAACCTGCA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	7/8			chr17	TogoVar
ASH1L_chr1_155330268_155567803	155332460	G G	GTATATAT others(9): Show GTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	182	0.0055	16	c.51 others(27): Show c.5199_*5200insTATATATATATATATA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding		2807		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155348911	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0173 a0011c0014t0002g0173	1	182	0.0055	16	c.755 others(33): Show c.7554+415_7554+416insGTGTGTGTGTGTGTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	19/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	182	0.0055	16	c.600 others(35): Show c.6008+4161_6008+4162insATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(9): Show AATAAATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18985.hp1 HG02258.hp1 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0115 a0002c0002t0001g0162 a0001c0001t0001g0115 a0002c0002t0001g0162	2	182	0.0110	16	c.600 others(35): Show c.6008+4157_6008+4158insATATATATTTATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(9): Show AATAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01978.hp2 HG04228.hp2 others(1): Show HG01952.hp1 HG01978.hp2 HG04228.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0046 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0181	4	182	0.0220	16	c.600 others(35): Show c.6008+4157_6008+4158insATATATATATATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	182	0.0055	16	c.600 others(35): Show c.6008+4142_6008+4157dupATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155489795	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18979.hp2 HG02970.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0105 a0001c0001t0001g0056 a0001c0001t0001g0105	2	182	0.0110	16	c.421 others(33): Show c.421-7362_421-7347dupATTTATTTATTTATTT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38131918	G G	GGCATACT others(9): Show GGCATACTGCAGCCTCT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0270 a0001c0002t0001g0270	1	330	0.0030	16	c.152 others(35): Show c.1528-1533_1528-1518dupATACTGCAGCCTCTGC	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(63): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02559.hp1 HG02683.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 NA18612.hp2 NA18939.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA18988.hp2 NA18998.hp2 NA19075.hp1 NA19080.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0004c0007	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 a0004c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(61): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0254 a0001c0001t0006g0020 a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0286 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0003t0001g0031 a0001c0003t0002g0260 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0010t0001g0017 a0004c0007t0001g0234	66	330	0.2000	16	c.34 others(27): Show c.3420_*3421insTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01071.hp2 others(11): Show HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01496.hp1 HG01517.hp1 HG02257.hp1 HG03471.hp1 HG03492.hp1 HG03942.hp1 HG04115.hp2 NA18947.hp1 NA18970.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0005t0006 a0002c0003t0001	a0001c0001t0003g0031 a0001c0001t0003g0043 a0001c0001t0003g0054 others(11): Show a0001c0001t0003g0031 a0001c0001t0003g0043 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0081 a0001c0001t0006g0057 a0001c0001t0007g0230 a0001c0001t0021g0028 a0001c0001t0024g0085 a0001c0002t0001g0124 a0001c0002t0002g0123 a0001c0002t0002g0138 a0001c0005t0006g0082 a0002c0003t0001g0176	14	240	0.0583	16	c.708 others(35): Show c.708+21779_708+21794dupAAGGAAGGAAGGAAGG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269732	C C	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG01109.hp1 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0015 a0001c0002t0012 a0001c0002t0015	a0001c0002t0012g0089 a0001c0002t0015g0090 a0001c0002t0012g0089 a0001c0002t0015g0090	2	240	0.0083	16	c.708 others(35): Show c.708+21660_708+21675dupAGGAAGGAAGGAAGGA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269751	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0006g0064 a0001c0001t0006g0065 a0002c0003t0001g0219 a0001c0001t0006g0064 a0001c0001t0006g0065 a0002c0003t0001g0219	3	240	0.0125	16	c.708 others(35): Show c.708+21641_708+21656dupGGAAGGAAGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269759	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 NA19240.hp2 HG01243.hp1 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013	a0001c0001t0004g0011 a0001c0001t0009g0012 a0001c0001t0013g0016 a0001c0001t0004g0011 a0001c0001t0009g0012 a0001c0001t0013g0016	3	240	0.0125	16	c.708 others(35): Show c.708+21633_708+21648dupAGAAGGAAGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34258688	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	306	0.0033	16	c.-10 others(33): Show c.-10-1674_-10-1673insTATATATATATACATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASL_chr7_66070819_66098576	66097720	A A	ATAGGCTG others(9): Show ATAGGCTGGCGCGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	316	0.0032	16	c.48 others(27): Show c.4808_*4809insTAGGCTGGCGCGGTGG	ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding		4145		chr7	TogoVar
ASMTL_chrX_1398139_1457909	1428646	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG04184.hp2 HG02559.hp1 HG02970.hp2 HG04184.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0003c0002 a0002c0015 a0003c0002	a0002c0015t0001 a0003c0002t0001 a0002c0015t0001 a0003c0002t0001	a0002c0015t0001g0001 a0003c0002t0001g0064 a0002c0015t0001g0001 a0003c0002t0001g0064	3	185	0.0162	16	c.510 others(31): Show c.510-541_510-526dupATTTATTTATTTATTT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1613176	C C	CTTCTTTC others(9): Show CTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02165.hp2 HG02976.hp2 others(3): Show HG01891.hp2 HG02165.hp2 HG02976.hp2 HG04184.hp2 NA18963.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0110 a0001c0001t0001g0212 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0110 a0001c0001t0001g0212 a0001c0003t0001g0050 a0001c0003t0001g0051 a0002c0002t0001g0108	6	223	0.0269	16	c.-20 others(27): Show c.-2024_-2023insTTCTTTCTTTCTTTCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1882		chrX	TogoVar
ASMT_chrX_1610059_1648081	1626108	A A	AAAAAAGG others(9): Show AAAAAAGGAAGGAAAAG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0182 a0001c0003t0002g0182	1	223	0.0045	16	c.375 others(33): Show c.375-1594_375-1579dupAAAAAGGAAGGAAAAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASPA_chr17_3470997_3508405	3506988	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00597.hp1 others(63): Show HG00140.hp2 HG00280.hp1 HG00597.hp1 HG00639.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02155.hp1 HG02258.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp2 NA18944.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18972.hp2 NA18982.hp2 NA18987.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19006.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19077.hp1 NA19080.hp1 NA19091.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(12): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0001c0001t0043 a0001c0001t0044 a0001c0001t0052 a0001c0002t0005 a0001c0002t0007 a0001c0002t0017 a0001c0002t0033 a0002c0004t0007	a0001c0001t0005g0068 a0001c0001t0005g0110 a0001c0001t0005g0369 others(57): Show a0001c0001t0005g0068 a0001c0001t0005g0110 a0001c0001t0005g0369 a0001c0001t0007g0095 a0001c0001t0007g0186 a0001c0001t0007g0256 a0001c0001t0007g0314 a0001c0001t0009g0180 a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0210 a0001c0001t0009g0294 a0001c0001t0009g0330 a0001c0001t0009g0332 a0001c0001t0011g0027 a0001c0001t0011g0140 a0001c0001t0011g0213 a0001c0001t0011g0277 a0001c0001t0022g0089 a0001c0001t0022g0298 a0001c0001t0034g0278 a0001c0001t0035g0144 a0001c0001t0043g0224 a0001c0001t0044g0052 a0001c0001t0052g0146 a0001c0002t0005g0014 a0001c0002t0005g0019 a0001c0002t0005g0042 a0001c0002t0005g0046 a0001c0002t0005g0063 a0001c0002t0005g0074 a0001c0002t0005g0077 a0001c0002t0005g0078 a0001c0002t0005g0085 a0001c0002t0005g0096 a0001c0002t0005g0154 a0001c0002t0005g0163 a0001c0002t0005g0170 a0001c0002t0005g0183 a0001c0002t0005g0198 a0001c0002t0005g0216 a0001c0002t0005g0237 a0001c0002t0005g0262 a0001c0002t0005g0286 a0001c0002t0005g0331 a0001c0002t0005g0342 a0001c0002t0007g0014 a0001c0002t0007g0016 a0001c0002t0007g0046 a0001c0002t0007g0138 a0001c0002t0007g0200 a0001c0002t0007g0215 a0001c0002t0007g0281 a0001c0002t0007g0292 a0001c0002t0007g0307 a0001c0002t0007g0324 a0001c0002t0007g0345 a0001c0002t0017g0045 a0001c0002t0033g0238 a0002c0004t0007g0328	66	450	0.1467	16	c.79 others(27): Show c.7900_*7901insAGGAAGGAAGGGAGGG	ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding		3584		chr17	TogoVar
ASPG_chr14_104080700_104120582	104117048	G G	GCGGCGCG others(9): Show GCGGCGCGGGCACATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03098.hp2 HG02572.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0002c0003t0010 a0001c0001t0010 a0002c0003t0010	a0001c0001t0010g0246 a0002c0003t0010g0159 a0001c0001t0010g0246 a0002c0003t0010g0159	2	368	0.0054	16	c.45 others(27): Show c.4504_*4505insCGGCGCGGGCACATTC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		1467		chr14	TogoVar
ASPH_chr8_61495556_61719592	61539697	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	258	0.0039	16	c.176 others(35): Show c.1764+8373_1764+8374insACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG02258.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0178 a0001c0001t0011g0250 a0001c0001t0001g0178 a0001c0001t0011g0250	2	258	0.0078	16	c.176 others(35): Show c.1764+8371_1764+8372insACACACACACACACCC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp2 HG01975.hp2 others(7): Show HG01261.hp2 HG01358.hp2 HG01975.hp2 HG02080.hp1 HG02083.hp1 HG03017.hp2 HG03098.hp1 HG04184.hp1 NA18980.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0028 a0001c0002t0020 a0001c0006t0014	a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0168 others(7): Show a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0168 a0001c0001t0004g0236 a0001c0001t0004g0246 a0001c0001t0013g0164 a0001c0001t0013g0165 a0001c0001t0028g0055 a0001c0002t0020g0011 a0001c0006t0014g0004	10	258	0.0388	16	c.176 others(35): Show c.1764+8356_1764+8371dupACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61561136	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG01346.hp1 HG02896.hp1 HG02897.hp1 NA19006.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0005 a0001c0001t0008 a0006c0010t0006 a0001c0001t0005 a0001c0001t0008 a0006c0010t0006	a0001c0001t0005g0090 a0001c0001t0005g0148 a0001c0001t0008g0244 others(1): Show a0001c0001t0005g0090 a0001c0001t0005g0148 a0001c0001t0008g0244 a0006c0010t0006g0081	4	258	0.0155	16	c.143 others(35): Show c.1437+1607_1437+1608insTCCTTCCTTCCTTCCT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61561136	G G	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	258	0.0039	16	c.143 others(35): Show c.1437+1607_1437+1608insTCCTTCCTTCCTCCCT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61562389	C C	CTCTGTGT others(9): Show CTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG04115.hp2 NA18942.hp2 HG01934.hp2 HG04115.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0048 a0001c0001t0001g0161 a0001c0001t0027g0044 a0001c0001t0001g0048 a0001c0001t0001g0161 a0001c0001t0027g0044	3	258	0.0116	16	c.143 others(33): Show c.1437+354_1437+355insCACACACACACACAGA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGAG others(9): Show AGAGAGAGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	258	0.0039	16	c.-49 others(27): Show c.-4924_-4923insACACACACACTCTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGTG others(9): Show AGAGAGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00621.hp1 others(73): Show HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18966.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp2 NA18999.hp1 NA19001.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19070.hp1 NA19074.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0003c0013 a0006c0010 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0001c0002t0002 a0001c0005t0001 a0003c0013t0001 a0006c0010t0006 a0007c0008t0002	a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0083 others(73): Show a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0122 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0003g0200 a0001c0001t0005g0076 a0001c0001t0005g0080 a0001c0001t0005g0090 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0148 a0001c0001t0005g0180 a0001c0001t0006g0097 a0001c0001t0006g0109 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0127 a0001c0001t0007g0184 a0001c0001t0009g0077 a0001c0001t0009g0142 a0001c0001t0009g0147 a0001c0001t0009g0149 a0001c0001t0013g0106 a0001c0001t0016g0099 a0001c0001t0021g0151 a0001c0001t0023g0137 a0001c0001t0029g0195 a0001c0002t0002g0069 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0104 a0001c0002t0002g0121 a0001c0002t0002g0144 a0001c0002t0002g0155 a0001c0002t0002g0158 a0001c0005t0001g0118 a0001c0005t0001g0157 a0003c0013t0001g0152 a0006c0010t0006g0081 a0007c0008t0002g0138	76	258	0.2946	16	c.-49 others(27): Show c.-4924_-4923insACACACACACACTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGTGTG others(9): Show AGAGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01074.hp2 others(25): Show HG00423.hp1 HG00621.hp2 HG01074.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp1 HG01934.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp2 HG02683.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03579.hp1 HG03688.hp2 HG04204.hp2 NA18950.hp2 NA18959.hp1 NA18988.hp1 NA19001.hp1 NA19004.hp1 NA19012.hp2 NA19082.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0002t0002 a0001c0002t0022 a0001c0002t0026 a0001c0006t0014 a0001c0011t0001 a0001c0012t0017 a0005c0007t0002	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0035 others(25): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0001g0190 a0001c0001t0005g0030 a0001c0001t0005g0188 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0041 a0001c0001t0016g0024 a0001c0001t0017g0032 a0001c0001t0025g0189 a0001c0001t0027g0044 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0046 a0001c0002t0022g0060 a0001c0002t0026g0063 a0001c0006t0014g0003 a0001c0006t0014g0004 a0001c0011t0001g0042 a0001c0012t0017g0043 a0005c0007t0002g0045	28	258	0.1085	16	c.-49 others(27): Show c.-4924_-4923insACACACACACACACTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPM_chr1_197079127_197151669	197145845	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0004 a0006c0013t0004	a0006c0013t0004g0046 a0006c0013t0004g0046	1	296	0.0034	16	c.297 others(31): Show c.297+280_297+295dupATATATATATATATAT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	1/27			chr1	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp1 others(24): Show HG00140.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01192.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp2 HG02896.hp1 HG02896.hp2 HG03098.hp2 HG03209.hp2 HG03486.hp1 HG03704.hp1 HG03927.hp2 NA18960.hp1 NA18972.hp1 NA18973.hp1 NA19006.hp1 NA19010.hp2 NA19057.hp1 NA19072.hp2 NA19076.hp1 NA19088.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0013 a0021 a0029 a0031 a0032	a0001c0003 a0001c0022 a0001c0034 others(7): Show a0001c0003 a0001c0022 a0001c0034 a0002c0002 a0003c0005 a0013c0025 a0021c0049 a0029c0036 a0031c0035 a0032c0037	a0001c0003t0001 a0001c0003t0008 a0001c0022t0001 others(9): Show a0001c0003t0001 a0001c0003t0008 a0001c0022t0001 a0001c0034t0001 a0002c0002t0001 a0002c0002t0007 a0003c0005t0003 a0013c0025t0004 a0021c0049t0001 a0029c0036t0001 a0031c0035t0001 a0032c0037t0001	a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0034 others(20): Show a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0034 a0001c0003t0001g0187 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0201 a0001c0003t0001g0206 a0001c0003t0001g0210 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0008g0194 a0001c0022t0001g0173 a0001c0034t0001g0180 a0002c0002t0001g0029 a0002c0002t0007g0170 a0003c0005t0003g0040 a0003c0005t0003g0041 a0013c0025t0004g0022 a0021c0049t0001g0214 a0029c0036t0001g0196 a0031c0035t0001g0209 a0032c0037t0001g0197	27	296	0.0912	16	c.-18 others(27): Show c.-1897_-1896insTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASRGL1_chr11_62332448_62398412	62362470	T T	TATATAAA others(9): Show TATATAAAATATATATA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0059 a0001c0001t0013g0059	1	370	0.0027	16	c.491 others(33): Show c.491+5332_491+5347dupAAATATATATAATATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00639.hp2 others(33): Show HG00544.hp1 HG00597.hp2 HG00639.hp2 HG01074.hp1 HG01109.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02738.hp2 HG03041.hp1 HG03491.hp2 HG03492.hp1 HG03942.hp2 NA18612.hp1 NA18949.hp1 NA18953.hp2 NA18955.hp1 NA18969.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18989.hp1 NA18994.hp2 NA18998.hp1 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19072.hp2 NA19084.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0055 others(33): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0003g0123 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0149 a0001c0001t0003g0163 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0306 a0001c0001t0015g0135 a0001c0001t0016g0040 a0001c0001t0016g0310 a0001c0001t0017g0029 a0001c0001t0017g0037 a0001c0002t0003g0290 a0001c0002t0003g0293 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0309 a0001c0002t0003g0312 a0001c0003t0001g0114	36	370	0.0973	16	c.491 others(33): Show c.491+5685_491+5700dupCACACACACACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362843	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	370	0.0027	16	c.491 others(33): Show c.491+5700_491+5701insCACACACACACACATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62383602	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	370	0.0027	16	c.492 others(33): Show c.492-5520_492-5505dupAAAAAAAAAAAAAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130445222	G G	GCGGGGGC others(9): Show GCGGGGGCGCGAGTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	374	0.0027	16	c.-6+ others(29): Show c.-6+248_-6+263dupGGCGCGAGTCCCCGGG	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495444	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG03540.hp1 HG02886.hp1 HG02895.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0018 a0001c0001t0001g0150 a0001c0001t0001g0165	3	374	0.0080	16	c.112 others(33): Show c.1127+423_1127+438dupTATATATATATATATA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495470	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02135.hp1 HG00408.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0223 a0001c0001t0001g0230	2	374	0.0054	16	c.112 others(33): Show c.1127+448_1127+449insCACACACACACACACA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176867919	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 NA18906.hp2 others(1): Show HG02109.hp1 HG02257.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0077 others(1): Show a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0005t0004g0085	4	112	0.0357	16	c.364 others(33): Show c.3647+909_3647+924dupGGAAGGAAGGAAGGAA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	22/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942820	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0043 a0003c0010t0006g0043	1	112	0.0089	16	c.237 others(35): Show c.2377+1070_2377+1071insTATATATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942820	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	112	0.0089	16	c.237 others(35): Show c.2377+1070_2377+1071insTATATATATATATACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942866	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02145.hp2 HG03239.hp1 others(2): Show HG01192.hp2 HG02145.hp2 HG03239.hp1 HG03834.hp2 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0003t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0008 a0002c0004t0003	a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0002t0002g0068 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0002t0002g0068 a0001c0003t0008g0104 a0002c0004t0003g0042	5	112	0.0446	16	c.237 others(35): Show c.2377+1024_2377+1025insAATATATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176994025	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	112	0.0089	16	c.152 others(37): Show c.1523+20765_1523+20766insTACACACACACACACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116432933	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19065.hp2 NA20300.hp2 HG03239.hp1 NA19065.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0008 a0001c0002t0008 a0001c0009t0008 a0001c0001t0008 a0001c0002t0008 a0001c0009t0008	a0001c0001t0008g0008 a0001c0002t0008g0024 a0001c0009t0008g0088 a0001c0001t0008g0008 a0001c0002t0008g0024 a0001c0009t0008g0088	3	102	0.0294	16	c.378 others(35): Show c.3783-6861_3783-6846dupTCTTCCTTCCTTCCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	22/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116432949	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	102	0.0098	16	c.378 others(35): Show c.3783-6862_3783-6861insCCTTCCTTCCTTCCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	22/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116439194	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	102	0.0098	16	c.378 others(35): Show c.3782+1399_3782+1414dupAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	22/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116446260	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01891.hp1 HG00099.hp2 HG01081.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0016 a0001c0002t0004 a0001c0001t0004 a0001c0001t0016 a0001c0002t0004	a0001c0001t0004g0060 a0001c0001t0016g0075 a0001c0002t0004g0062 a0001c0001t0004g0060 a0001c0001t0016g0075 a0001c0002t0004g0062	3	102	0.0294	16	c.349 others(35): Show c.3498-3708_3498-3707insATCTCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116446272	T T	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0023 a0001c0002t0002g0053	2	102	0.0196	16	c.349 others(35): Show c.3498-3735_3498-3720dupCTCTCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116453593	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	102	0.0098	16	c.349 others(37): Show c.3498-11056_3498-11041dupTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar

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